Growth arrest by the LKB1 tumor suppressor: induction of p21^W^A^F^1^/^C^I^P^1 (English)

In: HUMAN MOLECULAR GENETICS   ;  11 ;  1497-1504  ;  2002
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Table of contents – Volume 11

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The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.

1
Depletion of extracellular signal-regulated kinase 1 in mice with cardiomyopathy caused by lamin A/C gene mutation partially prevents pathology before isoenzyme activation
Wu, Wei / Iwata, Shinichi / Homma, Shunichi / Worman, Howard J. / Muchir, Antoine | 2014
1
Mitochondrial ferritin limits oxidative damage regulating mitochondrial iron availability: hypothesis for a protective role in Friedreich ataxia
Campanella, Alessandro / Rovelli, Elisabetta / Santambrogio, Paolo / Cozzi, Anna / Taroni, Franco / Levi, Sonia | 2009
1
IGF1 and IGFBP3 tagging polymorphisms are associated with circulating levels of IGF1, IGFBP3 and risk of breast cancer
Al-Zahrani, Ali / Sandhu, Manjinder S. / Luben, Robert N. / Thompson, Deborah / Baynes, Caroline / Pooley, Karen A. / Luccarini, Craig / Munday, Hannah / Perkins, Barbara / Smith, Paula et al. | 2006
1
Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes
Duchatelet, S. / Ostergaard, E. / Cortes, D. / Lemainque, A. / Julier, C. | 2005
1
Insight into the specificity and severity of pathogenic mechanisms associated with missense mutations through experimental and structural perturbation analyses
Medina-Carmona, Encarnación / Betancor-Fernández, Isabel / Santos, Jaime / Mesa-Torres, Noel / Grottelli, Silvia / Batlle, Cristina / Naganathan, Athi N / Oppici, Elisa / Cellini, Barbara / Ventura, Salvador et al. | 2018
1
The IL-9 Receptor Gene, Located in the Xq/Yq Pseudoautosomal Region, Has an Autosomal Origin, Escapes X Inactivation and Is Expressed from the Y
Vermeesch, Joris Robert / Petit, Paul / Kermouni, Abdenaïm / Renauld, Jean-Christophe / Van Den Berghe, Herman / Marynen, Peter | 1997
1
Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression
De Angelis, E. / Watkins, A. / Schafer, M. / Brummendorf, T. / Kenwrick, S. | 2002
1
A murine model of Denys-Drash syndrome reveals novel transcriptional targets of WT1 in podocytes
Ratelade, Julien / Arrondel, Christelle / Hamard, Ghislaine / Garbay, Serge / Harvey, Scott / Biebuyck, Nathalie / Schulz, Herbert / Hastie, Nick / Pontoglio, Marco / Gubler, Marie-Claire et al. | 2010
1
Editorial
| 1994
1
Manipulations of mouse embryos prior to implantation result in aberrant expression of imprinted genes on day 9.5 of development
Rivera, Rocío M. / Stein, Paula / Weaver, Jamie R. / Mager, Jesse / Schultz, Richard M. / Bartolomei, Marisa S. | 2008
1
Dramatically Different Phenotypes in Mouse Models of Human Tay-Sachs and Sandhoff Diseases
Phaneuf, Daniel / Wakamatsu, Nobuaki / Huang, Jing-Qi / Borowski, Anita / Peterson, Alan C. / Fortunato, Sheila R. / Ritter, Gerd / Igdoura, Suleiman A. / Morales, Carlos R. / Benoit, Guylaine et al. | 1996
1
A murine model of neurofibromatosis type 2 that accurately phenocopies human schwannoma formation
Gehlhausen, Jeffrey R. / Park, Su-Jung / Hickox, Ann E. / Shew, Matthew / Staser, Karl / Rhodes, Steven D. / Menon, Keshav / Lajiness, Jacquelyn D. / Mwanthi, Muithi / Yang, Xianlin et al. | 2015
1
Hemoglobin C is associated with reduced Plasmodium falciparum parasitemia and low risk of mild malaria attack
Rihet, P. / Flori, L. / Tall, F. / Traore, A. S. / Fumoux, F. | 2004
1
Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax^1^N^e^u +/- mutant mice
Porteous, S. / Torban, E. / Cho, N. P. / Cunliffe, H. / Chua, L. / McNoe, L. / Ward, T. / Souza, C. / Gus, P. / Giugliani, R. | 2000
1
Cell death triggered by polyglutamine-expanded huntingin in a neuronal cell line is associated with degradation of CREB-binding protein
Jiang, H. / Nucifora, F. C. / Ross, C. A. / DeFranco, D. B. | 2003
1
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen
Schwarze, Ulrike / Cundy, Tim / Pyott, Shawna M. / Christiansen, Helena E. / Hegde, Madhuri R. / Bank, Ruud A. / Pals, Gerard / Ankala, Arunkanth / Conneely, Karen / Seaver, Laurie et al. | 2013
1
Reconstructing hominid Y evolution: X-homologous block, created by X-Y transposition, was disrupted by Yp inversion through LINE--LINE recombination
Schwartz, Amy / Chan, David C. / Brown, Laura G. / Alagappan, Raaji / Pettay, Dorothy / Disteche, Christine / McGillivray, Barbara / de la Chapelle, Albert / Page, David C. | 1998
1
cDNA sequence and localization of polymorphic human cytosolic phosphoenolpyruvate carboxykinase gene (PCK1) to chromosome 20, band q13.31: PCK1 is not tightly linked to maturity-onset diabetes of the young
Stoffel, Markus / Xiang, Kun-san / Espinosa, Rafael / Cox, Nancy J. / Le Beau, Michelle M. / Bell, Graeme I. | 1993
1
ALS mutations in FUS cause neuronal dysfunction and death in Caenorhabditis elegans by a dominant gain-of-function mechanism
Murakami, Tetsuro / Yang, Seung-Pil / Xie, Lin / Kawano, Taizo / Fu, Donald / Mukai, Asuka / Bohm, Christopher / Chen, Fusheng / Robertson, Janice / Suzuki, Hiroshi et al. | 2012
1
The murine nephrin gene is specifically expressed in kidney, brain and pancreas: inactivation of the gene leads to massive proteinuria and neonatal death
Putaala, H. / Soininen, R. / Kilpelainen, P. / Wartiovaara, J. / Tryggvason, K. | 2001
1
Targeted Inactivation of Dp71, the Major Non-Muscle Product of the DMD Gene: Differential Activity of the Dp71 Promoter during Development
Sarig, Rachel / Mezger-Lallemand, Valerie / Gitelman, Inna / Davis, Clay / Fuchs, Ora / Yaffe, David / Nudel, Uri | 1999
1
Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals
Simon-Sanchez, Javier / Scholz, Sonja / Fung, Hon-Chung / Matarin, Mar / Hernandez, Dena / Gibbs, J. Raphael / Britton, Angela / de Vrieze, Fabienne Wavrant / Peckham, Elizabeth / Gwinn-Hardy, Katrina et al. | 2007
1
Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax21Neu +/- mutant mice
Porteous, Sarah / Torban, Elena / Cho, Nam-Pyo / Cunliffe, Heather / Chua, Lin / McNoe, Les / Ward, Teresa / Souza, Carolina / Gus, Patricia / Giugliani, Roberto et al. | 2000
1
Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses
Monckton, Darren G. / Wong, Lee-Jun C. / Ashizawa, Tetsuo / Caskey, C. Thomas | 1995
1
Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues
López Castel, Arturo / Nakamori, Masayuki / Tomé, Stephanie / Chitayat, David / Gourdon, Geneviève / Thornton, Charles A. / Pearson, Christopher E. | 2011
1
An essential role for UBE2A/HR6A in learning and memory and mGLUR-dependent long-term depression
Bruinsma, Caroline F. / Savelberg, Sanne M. C. / Kool, Martijn J. / Jolfaei, Mehrnoush Aghadavoud / Van Woerden, Geeske M. / Baarends, Willy M. / Elgersma, Ype | 2016
1-a
COMMENTARY: Myotonic dystrophy reviewed: back to the future?
Wieringa, Bé | 1994
3-a
Beginning or end? Telomere structure, genetics and biology
Kipling, David / Cooke, Howard J. | 1992
5
Determination of the organisation of coding sequences within the iduronate sulphate sulphatase (IDS) gene
Flomen, Rachel H. / Green, Elizabeth P. / Green, Peter M. / Bentley, David R. / Giannelli, Francesco | 1993
7
Expression of cardiac myosin-binding protein-C (cMyBP-C) in Drosophila as a model for the study of human cardiomyopathies
Manh, T. P. / Mokrane, M. / Georgenthum, E. / Flavigny, J. / Carrier, L. / Semeriva, M. / Piovant, M. / Roder, L. | 2005
7
A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter
Heutink, Peter / Mey, Andel G. L. van der / Sandkuijl, Lodewijk A. / Gils, Ad P. G. van / Bardoel, Alfons / Breedveld, Guido J. / Vliet, Margreethe van / Ommen, Gert-Jan B. van / Cornelisse, Cees J. / Oostra, Ben A. et al. | 1992
7
Specific isoforms of protein kinase C are essential for prevention of folate-resistant neural tube defects by inositol
Cogram, P. / Hynes, A. / Dunlevy, L. P. E. / Greene, N. D. E. / Copp, A. J. | 2004
9
The kyphoscoliosis (ky) mouse is deficient in hypertrophic responses and is caused by a mutation in a novel muscle-specific protein
Blanco, G. / Coulton, G. R. / Biggin, A. / Grainge, C. / Moss, J. / Barrett, M. / Berquin, A. / Marechal, G. / Skynner, M. / van Mier, P. | 2001
9
Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15
Carmi, Rivka / Rokhlina, Tatiana / Kwitek-Black, Anne E. / Elbedour, Khalil / Nishimura, Darryl / Stone, Edwin M. / Sheffield, Val C. | 1995
9
TDP-43 loss of cellular function through aggregation requires additional structural determinants beyond its C-terminal Q/N prion-like domain
Budini, Mauricio / Romano, Valentina / Quadri, Zainuddin / Buratti, Emanuele / Baralle, Francisco E. | 2015
9
Emergence and Scattering of Multiple Neurofibromatosis (NF1)-Related Sequences During Hominoid Evolution Suggest a Process of Pericentromeric Interchromosomal Transposition
Régnier, Vinciane / Meddeb, Mounira / Lecointre, Guillaume / Richard, Florence / Duverger, Annette / Van Cong, Nguyen / Dutrillaux, Bernard / Bernheim, Alain / Danglot, Gisèle | 1997
9
Multikinase activity of fibroblast growth factor receptor (FGFR) inhibitors SU5402, PD173074, AZD1480, AZD4547 and BGJ398 compromises the use of small chemicals targeting FGFR catalytic activity for therapy of short-stature syndromes
Gudernova, Iva / Vesela, Iva / Balek, Lukas / Buchtova, Marcela / Dosedelova, Hana / Kunova, Michaela / Pivnicka, Jakub / Jelinkova, Iva / Roubalova, Lucie / Kozubik, Alois et al. | 2016
9
COMMENTARY: Recombination model for generation of a submicroscopic deletion in familial Angelman syndrome
Nicholls, Robert D. | 1994
10
The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases
Chiesa, Nicoletta / De Crescenzo, Agostina / Mishra, Kankadeb / Perone, Lucia / Carella, Massimo / Palumbo, Orazio / Mussa, Alessandro / Sparago, Angela / Cerrato, Flavia / Russo, Silvia et al. | 2012
11
Loss of polycystin-1 or polycystin-2 results in dysregulated apolipoprotein expression in murine tissues via alterations in nuclear hormone receptors
Allen, Erica / Piontek, Klaus B. / Garrett-Mayer, Elizabeth / Garcia-Gonzalez, Miguel / Gorelick, Kerry Lee / Germino, Gregory G. | 2006
11
Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation
Jones, Cheryl T. / Mclntosh, lain / Keston, Marion / Ferguson, Anne / Brock, David J. H. | 1992
11
EYA4, a Novel Vertebrate Gene Related to Drosophila Eyes Absent
Borsani, Giuseppe / DeGrandi, Alessandro / Ballabio, Andrea / Bulfone, Alessandro / Bernard, Loris / Banfi, Sandro / Gattuso, Claudio / Mariani, Margherita / Dixon, Michael / Donnai, Dian et al. | 1999
11
Analyis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients
Naylor, J.A. / Green, P.M. / Rizza, C.R. / Giannelli, F. | 1993
12
Epigenetic regulation of the RHOX homeobox gene cluster and its association with human male infertility
Richardson, Marcy E. / Bleiziffer, Andreas / Tüttelmann, Frank / Gromoll, Jörg / Wilkinson, Miles F. | 2014
12
Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice
Viscomi, Carlo / Spinazzola, Antonella / Maggioni, Marco / Fernandez-Vizarra, Erika / Massa, Valeria / Pagano, Claudio / Vettor, Roberto / Mora, Marina / Zeviani, Massimo | 2009
13
Members of the olfactory receptor gene family are contained in large blocks of DNA duplicated polymorphically near the ends of human chromosomes
Trask, Barbara J. / Friedman, Cynthia / Martin-Gallardo, Antonia / Rowen, Lee / Akinbami, Carolyn / Blankenship, John / Collins, Colin / Giorgi, Dominique / Iadonato, Shawn / Johnson, Forrester et al. | 1998
13
Expanded polyglutamine peptides alone are intrinsically cytotoxic and cause neurodegeneration in Drosophila
Marsh, J. Lawrence / Walker, Heli / Theisen, Heidi / Zhu, Ya-Zhen / Fielder, Tom / Purcell, Judy / Thompson, Leslie M. | 2000
13
Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy
Sciacco, Monica / Bonilla, Eduardo / Schon, Eric A. / DiMauro, Salvatore / Moraes, Carlos T. | 1994
13
Chromosome-wide assessment of replication timing for human chromosomes 11q and 21q: disease-related genes in timing-switch regions
Watanabe, Y. / Fujiyama, A. / Ichiba, Y. / Hattori, M. / Yada, T. / Sakaki, Y. / Ikemura, T. | 2002
13
Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential
Teubner, B. / Michel, V. / Pesch, J. / Lautermann, J. / Cohen-Salmon, M. / Sohl, G. / Jahnke, K. / Winterhager, E. / Herberhold, C. / Hardelin, J.-P. | 2003
15
Coordinated diurnal regulation of genes from the Dlk1 Dio3 imprinted domain: implications for regulation of clusters of non-paralogous genes
Labialle, Stéphane / Yang, Lanjian / Ruan, Xuan / Villemain, Aude / Schmidt, Jennifer V. / Hernandez, Arturo / Wiltshire, Tim / Cermakian, Nicolas / Naumova, Anna K. | 2008
15
Expression of the mutant allele of IT-15 (the HD gene) in striatum and cortex of Huntington's disease patients
Stine, O. Colin / Li, Shi-Hua / Pleasant, Nicole / Wagster, Molly V. / Hedreen, John C. / Ross, Christopher A. | 1995
15
In Vivo Amplification of the PAX3-FKHR and PAX7-FKHR Fusion Genes in Alveolar Rhabdomyosarcoma
Barr, Frederic G. / Nauta, Lauren E. / Davis, Richard J. / Schafer, Beat W. / Nycum, Lynn M. / Biegel, Jaclyn A. | 1996
15
The DYRK1A gene, encoded in chromosome 21 Down syndrome critical region, bridges between {beta}-amyloid production and tau phosphorylation in Alzheimer disease
Kimura, Ryo / Kamino, Kouzin / Yamamoto, Mitsuko / Nuripa, Aidaralieva / Kida, Tomoyuki / Kazui, Hiroaki / Hashimoto, Ryota / Tanaka, Toshihisa / Kudo, Takashi / Yamagata, Hidehisa et al. | 2007
15
The DYRK1A gene, encoded in chromosome 21 Down syndrome critical region, bridges between b-amyloid production and tau phosphorylation in Alzheimer disease
Kimura, R. / Kamino, K. / Yamamoto, M. / Nuripa, A. / Kida, T. / Kazui, H. / Hashimoto, R. / Tanaka, T. / Kudo, T. / Yamagata, H. | 2007
15
Reduced histone biotinylation in multiple carboxylase deficiency patients: a nuclear role for holocarboxylase synthetase
Narang, M. A. / Dumas, R. / Ayer, L. M. / Gravel, R. A. | 2004
16
Polycystin-1 regulates bone development through an interaction with the transcriptional coactivator TAZ
Merrick, David / Mistry, Kavita / Wu, Jingshing / Gresko, Nikolay / Baggs, Julie E / Hogenesch, John B / Sun, Zhaoxia / Caplan, Michael J | 2018
16
PRKCSH/80K-H, the protein mutated in polycystic liver disease, protects polycystin-2/TRPP2 against HERP-mediated degradation
Gao, Hongyu / Wang, Yan / Wegierski, Tomasz / Skouloudaki, Kassiani / Pütz, Michael / Fu, Xiao / Engel, Christina / Boehlke, Christopher / Peng, Hongquan / Kuehn, E. Wolfgang et al. | 2010
16
Molecular chaperone-mediated rescue of mitophagy by a Parkin RING1 domain mutant
Rose, Johanna M. / Novoselov, Sergey S. / Robinson, Philip A. / Cheetham, Michael E. | 2011
17
Mutations in the Gene Encoding the Inwardly-Rectifying Renal Potassium Channel, ROMK, Cause the Antenatal Variant of Bartter Syndrome: Evidence for Genetic Heterogeneity
Károlyi, Lothar / Konrad, Martin / Köckerling, Arnold / Ziegler, Andreas / Zimmermann, Dorthe K. / Roth, Bernd / Wieg, Christian / Grzeschik, Karl-Heinz / Koch, Manuela C. / Seyberth, Hannsjörg W. et al. | 1997
17
Quantification and sequencing of somatic deleted mtDNA in single cells: evidence for partially duplicated mtDNA in aged human tissues
Bodyak, N. D. / Nekhaeva, E. / Wei, J. Y. / Khrapko, K. | 2001
18
A fully humanized transgenic mouse model of Huntington disease
Southwell, Amber L. / Warby, Simon C. / Carroll, Jeffrey B. / Doty, Crystal N. / Skotte, Niels H. / Zhang, Weining / Villanueva, Erika B. / Kovalik, Vlad / Xie, Yuanyun / Pouladi, Mahmoud A. et al. | 2013
19
Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations
Verderio, Elisabetta / Cavadini, Patrizia / Montermini, Laura / Wang, Haowei / Lamantea, Eleonora / Finocchiaro, Gaetano / DiDonato, Stefano / Gellera, Cinzia / Taroni, Franco | 1995
19
The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B
Reid, E. / Connell, J. / Edwards, T. L. / Duley, S. / Brown, S. E. / Sanderson, C. M. | 2005
19
Reconstruction of the 204 Mb human DMD-gene bhy homologous YAC recombination
Dunnen, J.T.Den / Grootscholten, P.M. / Dauwerse, J.G. / Walker, A.P. / Monaco, A.P. / Butler, R. / Anand, R. / Coffey, A.J. / Bentley, D.R. / Steensma, H.Y. et al. | 1992
19
A missense mutation in the proteolipid protein gene responsible for Pelizaeus--Merzbacher disease in a Japanese family
Iwaki, Akiko / Muramoto, Tamaki / Iwaki, Toru / Furumi, Hiroyasu / Dario-deLeon, Maria L. / Tateishi, Jun / Fukumaki, Yasuyuki | 1993
21
Mitochondrial defects and neuromuscular degeneration caused by altered expression of Drosophila Gdap1: implications for the Charcot-Marie-Tooth neuropathy
López Del Amo, Víctor / Seco-Cervera, Marta / García-Giménez, José Luís / Whitworth, Alexander J. / Pallardó, Federico V. / Galindo, Máximo Ibo | 2015
21
Complete androgen insensitivity due to mutations in the probable {alpha}-helical segments of the DNA-binding domain in the human androgen receptor
Beitel, Lenore K. / Prior, Lynn / Vaslliou, D. Marle / Gottlleb, Bruce / Kaufman, Morris / Lumbroso, Rose / Alvarado, Carlos / McGillivray, Barbara / Triflro, Mark / Pinsky, Leonard | 1994
23
Trehalose reduces aggregate formation and delays pathology in a transgenic mouse model of oculopharyngeal muscular dystrophy
Davies, Janet E. / Sarkar, Sovan / Rubinsztein, David C. | 2006
23
Human Pseudoautosomal Boundary-like Sequences: Expression and Involvement in Evolutionary Formation of the Present-day Pseudoautosomal Boundary of Human Sex Chromosomes
Fukagawa, Tatsuo / Nakamura, Yasukazu / Okumura, Katsuzumi / Nogami, Masahiro / Ando, Asako / Inoko, Hidetoshi / Saitou, Naruya / Ikemura, Toshimichi | 1996
23
Results of a high-resolution genome screen of 437 Alzheimer's Disease families
Blacker, D. / Bertram, L. / Saunders, A. J. / Moscarillo, T. J. / Albert, M. S. / Wiener, H. / Perry, R. T. / Collins, J. S. / Harrell, L. E. / Go, R. C. P. | 2003
23
Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form
Poulton, Jo / Deadman, Mary E. / Bindoff, Lawrence / Morten, Karl / Land, John / Brown, Garry | 1993
23
The molecular basis of dichromatic color vision in males with multiple red and green visual pigment genes
Jagla, W. M. / Jagle, H. / Hayashi, T. / Sharpe, L. T. / Deeb, S. S. | 2002
23
Human pseudoautosomai boundary-like sequences: expression and involvement in evolutionary formation of the present-day pseudoautosomal boundary of human sex chromosomes
Fukagawa, T. / Nakamura, Y. / Okumura, K. / Nogami, M. / Ando, A. / Inoko, H. / Saitou, N. / Ikemura, T. | 1996
24
Combinatorial therapeutic activation with heparin and AICAR stimulates additive effects on utrophin A expression in dystrophic muscles
Péladeau, Christine / Ahmed, Aatika / Amirouche, Adel / Crawford Parks, Tara E. / Bronicki, Lucas M. / Ljubicic, Vladimir / Renaud, Jean-Marc / Jasmin, Bernard J. | 2016
24
Novel genes identified in a high-density genome wide association study for nicotine dependence
Bierut, Laura Jean / Madden, Pamela A.F. / Breslau, Naomi / Johnson, Eric O. / Hatsukami, Dorothy / Pomerleau, Ovide F. / Swan, Gary E. / Rutter, Joni / Bertelsen, Sarah / Fox, Louis et al. | 2007
24
Elevated FGF21 secretion, PGC-1{alpha} and ketogenic enzyme expression are hallmarks of iron-sulfur cluster depletion in human skeletal muscle
Crooks, Daniel R. / Natarajan, Thanemozhi G. / Jeong, Suh Young / Chen, Chuming / Park, Sun Young / Huang, Hongzhan / Ghosh, Manik C. / Tong, Wing-Hang / Haller, Ronald G. / Wu, Cathy et al. | 2014
24
Elevated FGF21 secretion, PGC-1α and ketogenic enzyme expression are hallmarks of iron–sulfur cluster depletion in human skeletal muscle
Crooks, D. R. / Natarajan, T. G. / Jeong, S. Y. / Chen, C. / Park, S. Y. / Huang, H. / Ghosh, M. C. / Tong, W. H. / Haller, R. G. / Wu, C. | 2014
25
In Vitro Evidence for Both the Nucleus and Cytoplasm as Subcellular Sites of Pathogenesis in Huntington's Disease
Hackam, Abigail S. / Singaraja, Roshni / Zhang, Taiqi / Gan, Lu / Hayden, Michael R. | 1999
25
Extent of linkage disequilibrium in a Sardinian sub-isolate: sampling and methodological considerations
Tenesa, A. / Wright, A. F. / Knott, S. A. / Carothers, A. D. / Hayward, C. / Angius, A. / Persico, I. / Maestrale, G. / Hastie, N. D. / Pirastu, M. | 2004
25
Alteration of the unfolded protein response modifies neurodegeneration in a mouse model of Marinesco-Sjogren syndrome
Zhao, Lihong / Rosales, Christine / Seburn, Kevin / Ron, David / Ackerman, Susan L. | 2010
25
The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract
Yue, S. / Serra, H. G. / Zoghbi, H. Y. / Orr, H. T. | 2001
26
Cardiovascular defects in a mouse model of HOXA1 syndrome
Makki, Nadja / Capecchi, Mario R. | 2012
27
Mitochondrial abnormalities in spinal and bulbar muscular atrophy
Ranganathan, Srikanth / Harmison, George G. / Meyertholen, Kristin / Pennuto, Maria / Burnett, Barrington G. / Fischbeck, Kenneth H. | 2009
27
A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration
Maw, Marion A. / Corbeil, Denis / Koch, Julia / Hellwig, Andrea / Wilson-Wheeler, Jane C. / Bridges, Robyn J. / Kumaramanickavel, Govindasamy / John, Sheila / Nancarrow, Derek / Röper, Katja et al. | 2000
27
Extensive contribution of embryonic stem cells to the development of an evolutionarily divergent host
Xiang, Andy Peng / Mao, Frank Fuxiang / Li, Wei-Qiang / Park, Donghyun / Ma, Bao-Feng / Wang, Tao / Vallender, Tammy W. / Vallender, Eric J. / Zhang, Li / Lee, Jaehyun et al. | 2008
27
A genome scan for loci influencing total serum immunoglobulin levels: possible linkage of IgA to the chromosome 13 atopy locus
Wiltshire, Steven / Bhattacharyya, Sumit / Faux, Jennie A. / Leaves, Nicholas I. / Daniels, Susan E. / Moffatt, Miriam F. / James, Alan / Musk, A. William / Cookson, William O. C. M. | 1998
27
A Newly Identified Locus for Usher Syndrome Type I, USH1E, Maps to Chromosome 21q21
Chaïb, Hassan / Kaplan, Josseline / Gerber, Sylvie / Vincent, Christophe / Ayadi, Hammadi / Slim, Rima / Munnich, Arnold / Weissenbach, Jean / Petit, Christine | 1997
28
The connexin26 S17F mouse mutant represents a model for the human hereditary keratitis-ichthyosis-deafness syndrome
Schütz, Melanie / Auth, Tanja / Gehrt, Anna / Bosen, Felicitas / Körber, Inken / Strenzke, Nicola / Moser, Tobias / Willecke, Klaus | 2011
29
Towards the molecular localisation of the AZF locus: mapping of microdeletions in azoospermic men within 14 subintervals of interval 6 of the human Y chromosome
Ma, K. / Sharkey, A. / Kirsch, S. / Vogt, P. / Keil, R. / Hargreave, T. B. / McBeath, S. / Chandley, A. C. | 1992
29
Mutations in the connexin 32 gene in X-linked dominant Charcot- Marie - Tooth disease (CMTX1)
Fairweather, Nicholas / Bell, Christine / Cochrane, Susan / Chelly, Jamel / Wang, Suping / L.Mostacciuolo, Marie / P.Monaco, Anthony / E.Haites, Neva | 1994
31
Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer--Giedion syndrome
Lüdecke, Hermann-Josef / J.Wagner, Michael / Nardmann, Judith / Pillo, Biagio La / E.Parrish, Julia / J.Willems, Patrick / A.Haan, Eric / Frydman, Moshe / J.H.Hamers, Guus / E.Weils, Dan et al. | 1995
31
Methylation profiles of DXPas34 during the onset of X-inactivation
Prissette, M. / El-Maarri, O. / Arnaud, D. / Walter, J. / Avner, P. | 2001
31
IIlegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria
Abadie, V. / Jaruzelska, J. / Lyonnet, S. / Millasseau, P. / Berthelon, M. / Rey, F. / Munnich, A. / Rey, J. | 1993
31
Nuclear localization and phosphorylation modulate pathological effects of alpha-synuclein
Pinho, Raquel / Paiva, Isabel / Jerčić, Kristina Gotovac / Fonseca-Ornelas, Luis / Gerhardt, Ellen / Fahlbusch, Christiane / Garcia-Esparcia, Paula / Kerimoglu, Cemil / Pavlou, Maria A S / Villar-Piqué, Anna et al. | 2018
32
Modeling abnormal early development with induced pluripotent stem cells from aneuploid syndromes
Li, Wen / Wang, Xianming / Fan, Wenxia / Zhao, Ping / Chan, Yau-Chi / Chen, Shen / Zhang, Shiqiang / Guo, Xiangpeng / Zhang, Ya / Li, Yanhua et al. | 2012
33
Translation Initiation Factor eIF-4gamma is Encoded by an Amplified Gene and Induces an Immune Response in Squamous Cell Lung Carcinoma
Brass, Nicole / Heckel, Dirk / Sahin, Ugor / Pfreundschuh, Michael / Sybrecht, Gerhard W. / Meese, Eckart | 1997
33
Recombination hotspots rather than population history dominate linkage disequilibrium in the MHC class II region
Kauppi, L. / Sajantila, A. / Jeffreys, A. J. | 2003
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Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma
Jamieson, R. V. / Perveen, R. / Kerr, B. / Carette, M. / Yardley, J. / Heon, E. / Wirth, M. G. / van Heyningen, V. / Donnai, D. / Munier, F. | 2002
33
Proteasome impairment does not contribute to pathogenesis in R6/2 Huntington's disease mice: exclusion of proteasome activator REG{gamma} as a therapeutic target
Bett, John S. / Goellner, Geoffrey M. / Woodman, Ben / Pratt, Gregory / Rechsteiner, Martin / Bates, Gillian P. | 2006
33
Exhaustive Scanning Approach to Screen All the Mitochondrial tRNA Genes for Mutations and Its Application to the Investigation of 35 Independent Patients with Mitochondrial Disorders
Sternberg, Damien / Danan, Claude / Lombès, Anne / Laforêt, Pascal / Girodon, Emmanuelle / Goossens, Michel / Amselem, Serge | 1998
33
Cloning and Developmental Expression Analysis of the Murine Homolog of the Spinocerebellar Ataxia Type 1 Gene (Sea1)
Banfi, Sandro / Servadio, Antonio / Chung, Ming-yi / Capozzoli, Fiorentino / Duvick, Lisa A. / Elde, Robert / Zoghbi, Huda Y. / Orr, Harry T. | 1996
33
Proteasome impairment does not contribute to pathogenesis in R6/2 Huntingtons disease mice: exclusion of proteasome activator REGg as a therapeutic target
Bett, J. S. / Goellner, G. M. / Woodman, B. / Pratt, G. / Rechsteiner, M. / Bates, G. P. | 2006
33
Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Sca1)
Banfi, S. / Servadio, A. / Chung, M.-Y. / Capozzoli, F. / Duvick, L. A. / Elde, R. / Zoghbi, H. Y. / Orr, H. T. | 1996
35
The gene for Darier's disease maps between D12S78 and D12S79
Parfitt, E. / Burge, S. / Craddock, N. / Roberts, E. / McLean, W.H.I. / Weissenbach, J. / McGuffln, P. / Owen, M. | 1994
35
Loss of CRB2 in the mouse retina mimics human retinitis pigmentosa due to mutations in the CRB1 gene
Alves, Celso Henrique / Sanz Sanz, Alicia / Park, Bokyung / Pellissier, Lucie P. / Tanimoto, Naoyuki / Beck, Susanne C. / Huber, Gesine / Murtaza, Mariyam / Richard, Fabrice / Sridevi Gurubaran, Iswariyaraja et al. | 2013
35
Characterisation of the exon structure of the Fanconi anaemia group C gene by vectorette PCR
Gibson, Rachel A. / Buchwald, Manuel / Roberts, Roland G. / Mathew, Christopher G. | 1993
35
NF1 microdeletion breakpoints are clustered at flanking repetitive sequences
Dorschner, Michael O. / Sybert, Virginia P. / Weaver, Molly / Pletcher, Beth A. / Stephens, Karen | 2000
35
A Lys644Glu Substitution in Fibroblast Growth Factor Receptor 3 (FGFR3) Causes Dwarfism in Mice by Activation of STATs and Ink4 Cell Cycle Inhibitors
Li, Cuiling / Chen, Lin / Iwata, Tomoko / Kitagawa, Motoo / Fu, Xin-Yuan / Deng, Chu-Xia | 1999
35
Human dystrophin expression corrects the myopathic phenotype in transgenic mdx mice
J.Wells, Dominic / E.Wells, Kim / S.Walsh, Frank / E.Davies, Kay / Goldspink, Geoffrey / R.Love, Donald / Chan-Thomas, Penny / G.Dunckley, Matthew / Piper, Tony / Dickson, George | 1992
35
Functional annotation of a novel NFKB1 promoter polymorphism that increases risk for ulcerative colitis
Karban, A. S. / Okazaki, T. / Panhuysen, C. I. M. / Gallegos, T. / Potter, J. J. / Bailey-Wilson, J. E. / Silverberg, M. S. / Duerr, R. H. / Cho, J. H. / Gregerson, P. K. | 2004
36
Cholinergic nicotinic receptor genes implicated in a nicotine dependence association study targeting 348 candidate genes with 3713 SNPs
Saccone, Scott F. / Hinrichs, Anthony L. / Saccone, Nancy L. / Chase, Gary A. / Konvicka, Karel / Madden, Pamela A.F. / Breslau, Naomi / Johnson, Eric O. / Hatsukami, Dorothy / Pomerleau, Ovide et al. | 2007
36
Dual effects of superovulation: loss of maternal and paternal imprinted methylation in a dose-dependent manner
Market-Velker, Brenna A. / Zhang, Liyue / Magri, Lauren S. / Bonvissuto, Anne C. / Mann, Mellissa R.W. | 2010
37
Absence of plastin 1 causes abnormal maintenance of hair cell stereocilia and a moderate form of hearing loss in mice
Taylor, Ruth / Bullen, Anwen / Johnson, Stuart L. / Grimm-Günter, Eva-Maria / Rivero, Francisco / Marcotti, Walter / Forge, Andrew / Daudet, Nicolas | 2015
37
Analysis of 2166 clones from a human colorectal cancer cDNA library by partial sequencing
Frigerio, Jean-Marc / Berthézène, Patrice / Garrido, Patricia / Barthellemy, Emilia Ortiz Sandrine / Vasseur, Sophie / Sastre, Bernard / Seleznieff, Igor / Dagorn, Jean-Charles / lovanna, Juan Lucio | 1995
38
Smoking and alcoholism target genes associated with plasticity and glutamate transmission in the human ventral tegmental area
Flatscher-Bader, T. / Zuvela, N. / Landis, N. / Wilce, P.A. | 2008
39
Is the maintainance of the C-terminus domain of dystrophin enough to ensure a milder Becker muscular dystrophy phenotype?
Vainzof, M. / Takata, R.I. / Passos-Bueno, M.R. / Pavanello, R.C.M. / Zatz, M. | 1993
39
Orexin loss in Huntingtons disease
Petersen, A. / Gil, J. / Maat-Schieman, M. L. / Bjorkqvist, M. / Tanila, H. / Araujo, I. M. / Smith, R. / Popovic, N. / Wierup, N. / Norlen, P. | 2005
39
Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia
Thomas, P. Q. / Datttani, M. T. / Brickman, J. M. / McNay, D. / Warne, G. / Zacharin, M. / Cameron, F. / Hurst, J. / Woods, K. / Dunger, D. | 2001
39
Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3
Gecz, J. / Pollaord, H. / Consalez, G. / Villard, L. / Stayton, C. / Millasseau, P. / Khrestchatisky, M. / Fontes, M. | 1994
40
DJ-1 acts in parallel to the PINK1/parkin pathway to control mitochondrial function and autophagy
Thomas, Kelly Jean / McCoy, Melissa K. / Blackinton, Jeff / Beilina, Alexandra / van der Brug, Marcel / Sandebring, Anna / Miller, David / Maric, Dragan / Cedazo-Minguez, Angel / Cookson, Mark R. | 2011
40
BBS mutations modify phenotypic expression of CEP290-related ciliopathies
Zhang, Yan / Seo, Seongjin / Bhattarai, Sajag / Bugge, Kevin / Searby, Charles C. / Zhang, Qihong / Drack, Arlene V. / Stone, Edwin M. / Sheffield, Val C. | 2014
41
Cloning and Characterization of a Murine Brain Specific Gene Bpx and Its Human Homologue Lying within the Xic Candidate Region
Rougeulle, Claire / Avner, Philip | 1996
41
Lack of Founding Amerindian Mitochondrial DNA Lineages in Extinct Aborigines from Tierra del Fuego-Patagonia
Lalueza, Carles / Pérez-Pérez, Alejandro / Prats, Eva / Cornudella, Lluís / Turbón, Daniel | 1997
41
A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis piamentosa
Inglehearn, Chris F. / Keen, T. Jeffrey / Bashir, Rumaisa / Jay, Marcelle / Fitzke, Fred / C.Bird, Alan / Crombie, Alex / Bhattacharya, Shomi | 1992
41
Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in trasgenic mice
Libby, R. T. / Monckton, D. G. / Fu, Y.-H. / Martinez, R. A. / McAbney, J. P. / Lau, R. / Einum, D. D. / Nichol, K. / Ware, C. B. / Ptacek, L. J. | 2003
43
Hearing loss in a mouse model of Muenke syndrome
Mansour, Suzanne L. / Twigg, Stephen R.F. / Freeland, Rowena M. / Wall, Steven A. / Li, Chaoying / Wilkie, Andrew O.M. | 2009
43
Estimation of the Genetic Contribution of Presenilin-1 and -2 Mutations in a Population-Based Study of Presenile Alzheimer Disease
Cruts, Marc / van Duijn, Cornelia M. / Backhovens, Hubert / Van den Broeck, Marleen / Wehnert, Anita / Serneels, Sally / Sherrington, Robin / Hutton, Michael / Hardy, John / St George-Hyslop, Peter H. et al. | 1998
43
Acute regression of advanced and retardation of early aortic atheroma in immunocompetent apolipoprotein-E (apoE) deficient mice by administration of a second generation [E1^-, E3^-, polymerase^-] adenovirus vector expressing human apoE
Harris, J. D. / Graham, I. R. / Schepelmann, S. / Stannard, A. K. / Roberts, M. L. / Hodges, B. L. / Hill, V. J. / Amalfitano, A. / Hassall, D. G. / Owen, J. S. | 2002
43
Diagnosis of Down syndrome and other aneuploidies using quantitative polymerase chain reaction and small tandem repeat polymorphisms
Mansfield, Elaine S. | 1993
44
Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis
DeLuca, Adam P. / Whitmore, S. Scott / Barnes, Jenna / Sharma, Tasneem P. / Westfall, Trudi A. / Scott, C. Anthony / Weed, Matthew C. / Wiley, Jill S. / Wiley, Luke A. / Johnston, Rebecca M. et al. | 2016
45
Telomere instability in the male germline
Baird, Duncan M. / Britt-Compton, Bethan / Rowson, Jan / Amso, Nazar N. / Gregory, Linda / Kipling, David | 2006
45
Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients
Graaff, Esther de / Rouillard, Patricia / J.Willems, Patrick / P.T.Smits, Arie / Rousseau, Francois / A.Oostra, Ben | 1995
45
Mutations and Impaired Function of LKB1 in Familial and Non-Familial Peutz-Jeghers Syndrome and a Sporadic Testicular Cancer
Ylikorkala, Antti / Avizienyte, Egle / Tomlinson, Ian P. M. / Tiainen, Marianne / Roth, Stina / Loukola, Anu / Hemminki, Akseli / Johansson, Marie / Sistonen, Pertti / Markie, David et al. | 1999
45
High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation
E.Neville, Catherine / S.Mahadeva, Manl / M.Barceló, Juana / Korneluk, Robert | 1994
46
What are the determinants of gene expression levels and breadths in the human genome?
Park, Jungsun / Xu, Ke / Park, Taesung / Yi, Soojin V. | 2012
47
Isolation of a new gene from the distal short arm of the human X chromosome that escapes X-inactivation
H.Yen, Pauline / Ellison, Jay / Salido, Eduardo C. / Mohandas, Thuluvancheri / Shapiro, Larry | 1992
47
A Locus for Autosomal Dominant Posterior Polar Cataract on Chromosome 1p
Ionides, Alexander C. W. / Berry, Vanita / Mackay, Donna S. / Moore, Anthony T. / Bhattacharya, Shomi S. / Shiels, Alan | 1997
47
Glucocorticoid-related genetic susceptibility for Alzheimer's disease
de Quervain, D. J.-F. / Poirier, R. / Wollmer, M. A. / Grimaldi, L. M. E. / Tsolaki, M. / Streffer, J. R. / Hock, C. / Nitsch, R. M. / Mohajeri, M. H. / Papassotiropoulos, A. | 2004
47
The destabilization of human GCAP1 by a proline to leucine mutation might cause cone-rod dystrophy
Newbold, R. J. / Deery, E. C. / Walker, C. E. / Wilkie, S. E. / Srinivasan, N. / Hunt, D. M. / Bhattacharya, S. S. / Warren, M. J. | 2001
47
Subcellular localization and axonal transport of the survival motor neuron (SMN) protein in the developing rat spinal cord
Pagliardini, Silvia / Giavazzi, Alessio / Setola, Veronica / Lizier, Carlotta / Di Luca, Monica / DeBiasi, Silvia / Battaglia, Giorgio | 2000
49
Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia
Kuo, Y. M. / Duncan, J. L. / Westaway, S. K. / Yang, H. / Nune, G. / Xu, E. Y. / Hayflick, S. J. / Gitschier, J. | 2005
50
Genomic analysis of fibrolamellar hepatocellular carcinoma
Xu, Lei / Hazard, Florette K. / Zmoos, Anne-Flore / Jahchan, Nadine / Chaib, Hassan / Garfin, Phillip M. / Rangaswami, Arun / Snyder, Michael P. / Sage, Julien | 2015
50
Pael receptor induces death of dopaminergic neurons in the substantia nigra via endoplasmic reticulum stress and dopamine toxicity, which is enhanced under condition of parkin inactivation
Kitao, Yasuko / Imai, Yuzuru / Ozawa, Kentaro / Kataoka, Ayane / Ikeda, Toshio / Soda, Mariko / Nakimawa, Kazuhiko / Kiyama, Hiroshi / Stern, David M. / Hori, Osamu et al. | 2007
51
DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia
VoRechovsky, Igor / Vihinen, Mauno / de Saint Basile, Geneviève / Honsová, Stanislava / Hammarström, Lennart / Müller, Susanne / Nilsson, Lennart / Fischer, Alain / Smith, C.I.Edvard | 1995
51
Cordycepin activates autophagy through AMPK phosphorylation to reduce abnormalities in Machado–Joseph disease models
Marcelo, Adriana / Brito, Filipa / Carmo-Silva, Sara / Matos, Carlos A / Alves-Cruzeiro, João / Vasconcelos-Ferreira, Ana / Koppenol, Rebekah / Mendonça, Liliana / de Almeida, Luís Pereira / Nóbrega, Clévio | 2018
51
Drosophila FMRP regulates microtubule network formation and axonal transport of mitochondria
Yao, Aiyu / Jin, Shan / Li, Xinhai / Liu, Zhihua / Ma, Xuehua / Tang, Jing / Zhang, Yong Q. | 2011
51
Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein
van Wijk, Erwin / Kersten, Ferry F.J. / Kartono, Aileen / Mans, Dorus A. / Brandwijk, Kim / Letteboer, Stef J.F. / Peters, Theo A. / Märker, Tina / Yan, Xiumin / Cremers, Cor W.R.J. et al. | 2009
51
Expression of wild-type human superoxide dismutase-1 in mice causes amyotrophic lateral sclerosis
Graffmo, Karin S. / Forsberg, Karin / Bergh, Johan / Birve, Anna / Zetterström, Per / Andersen, Peter M. / Marklund, Stefan L. / Brännström, Thomas | 2013
51
Identification of 12 novel mutations in the CFTR gene
Audrézet, M.P. / Mercier, B. / Guillermit, H. / Quéré, I. / Verlingue, C. / Rault, G. / Férec, C. | 1993
51
An Animal Model for Norrie Disease (ND): Gene Targeting of the Mouse Nd Gene
Berger, Wolfgang / van de Pol, Dorien / Bächner, Dietmar / Oerlemans, Frank / Winkens, Huub / Hameister, Horst / Wieringa, Bé / Hendriks, Wiljan / Ropers, Hans-Hilger | 1996
51
The interval of linkage disequilibrium (LD) detected with microsatellite and SNP markers in chromosomes of Finnish populations with different histories
Varilo, T. / Paunio, T. / Parker, A. / Perola, M. / Meyer, J. / Terwilliger, J. D. / Peltonen, L. | 2003
52
Protein phosphatase 1 binds to the RNA recognition motif of several splicing factors and regulates alternative pre-mRNA processing
Novoyatleva, Tatyana / Heinrich, Bettina / Tang, Yesheng / Benderska, Natalya / Butchbach, Matthew E.R. / Lorson, Christian L. / Lorson, Monique A. / Ben-Dov, Claudia / Fehlbaum, Pascale / Bracco, Laurent et al. | 2008
52
Mouse genetics and proteomic analyses demonstrate a critical role for complement in a model of DHRD/ML, an inherited macular degeneration
Garland, Donita L. / Fernandez-Godino, Rosario / Kaur, Inderjeet / Speicher, Kaye D. / Harnly, James M. / Lambris, John D. / Speicher, David W. / Pierce, Eric A. | 2014
52
A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia
Piróg, Katarzyna A. / Jaka, Oihane / Katakura, Yoshihisa / Meadows, Roger S. / Kadler, Karl E. / Boot-Handford, Raymond P. / Briggs, Michael D. | 2010
53
Regionally clustered APC mutations are associated with a severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coli
Gayther, Simon A. / Wells, Dagan / SenGupta, Sioban B. / Chapman, Pamela / Neale, Kay / Tsioupra, Katia / A.Delhanty, Joy D. | 1994
53
Gene targeting for somatic cell manipulation: rapid analysis of reduced chromosome hybrids by Alu-PCR fingerprinting and chromosome painting
Dorin, Julia R. / Emslie, Elizabeth / Hanratty, Diane / Farrall, Martin / Gosden, John / J.Porteous, David | 1992
53
The BRC Repeats are Conserved in Mammalian BRCA2 Proteins
Bignell, Graham / Micklem, Gos / Stratton, Michael R. / Ashworth, Alan / Wooster, Richard | 1997
53
Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease
Bijvoet, Agnes G.A. / van de Kamp, Esther H.M. / Kroos, Marian A. / Ding, Jia-Huan / Yang, Bing Z. / Visser, Pim / Bakker, Cathy E. / Verbeet, Martin Ph. / Oostra, Ben A. / Reuser, Arnold J.J. et al. | 1998
53
Cardiac Elav-type RNA-binding Protein (ETR-3) Binds to RNA CUG Repeats Expanded in Myotonic Dystrophy
Lu, Xiaohui / Timchenko, Nikolai A. / Timchenko, Lubov T. | 1999
53
Intracerebral adeno-associated virus-mediated gene transfer in rapidly progressive forms of metachromatic leukodystrophy
Sevin, Caroline / Benraiss, Abdellatif / Van Dam, Debby / Bonnin, Delphine / Nagels, Guy / Verot, Lucie / Laurendeau, Ingrid / Vidaud, Michel / Gieselmann, Volkmar / Vanier, Marie et al. | 2006
53
Interference of Crx-dependent transcription by ataxin-7 involves interaction between the glutamine regions and requires the ataxin-7 carboxyl-terminal region for nuclear localization
Chen, S. / Peng, G.-H. / Wang, X. / Smith, A. C. / Grote, S. K. / Sopher, B. L. / La Spada, A. R. | 2004
55
Localization of seven new genes around the HLA-A locus
Kahloun, Abdel El / Chauvel, Bruno / Mauvieux, Valérie / Dorval, Ian / Jouanolle, Anne-Marie / Gicquel, Isabelle / Le Gall, Jean-Yves / David, Véronique | 1993
55
A germline deletion of p14^A^R^F but not CDKN2A in a melanoma-neural system tumour syndrome family
Randerson-Moor, J. A. / Harland, M. / Williams, S. / Cuthbert-Heavens, D. / Shcridan, E. / Aveyard, J. / Sibley, K. / Whitaker, L. / Knowles, M. / Bishop, J. N. | 2001
57
Independent association of an APOE gene promoter polymorphism with increased risk of myocardial infarction and decreased APOE plasma concentrations--the ECTIM Study
Lambert, Jean-Charles / Brousseau, Thierry / Defosse, Véronique / Evans, Alun / Arveiler, Dominique / Ruidavets, Jean-Bernard / Haas, Bernadette / Cambou, Jean-Pierre / Luc, Gérald / Ducimetière, Pierre et al. | 2000
57
Retrotransposon activation contributes to fragile X premutation rCGG-mediated neurodegeneration
Tan, Huiping / Qurashi, Abrar / Poidevin, Mickael / Nelson, David L. / Li, He / Jin, Peng | 2012
57
Differential effects on {beta}-cell mass by disruption of Bardet-Biedl syndrome or Alstrom syndrome genes
Lodh, Sukanya / Hostelley, Timothy L. / Leitch, Carmen C. / O'Hare, Elizabeth A. / Zaghloul, Norann A. | 2016
59
Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genes
Bhangale, T. R. / Rieder, M. J. / Livingston, R. J. / Nickerson, D. A. | 2005
59
Integration of physical, breakpoint and genetic maps of chromosome 22. Localization of 587 yeast artificial chromosomes with 238 mapped markers
J.Bell, Callum / L.Budarf, Marcia / W.Nieuwenhuijsen, Bart / L.Barnoski, Barry / H.Buetow, Kenneth / Campbell, Keely / M.E.Colbert, Angela / Collins, Joelle / Daly, Mark / R.Desjardins, Philippe et al. | 1995
59
Distinct subcellular expression of endogenous polycystin-2 in the plasma membrane and Golgi apparatus of MDCK cells
Scheffers, M. S. / Le, H. / van der Bent, P. / Leonhard, W. / Prins, F. / Spruit, L. / Breuning, M. H. / de Heer, E. / Peters, D. J. M. | 2002
59
Functional Human CFTR Produced by Stable Chinese Hamster Ovary Cell Lines Derived Using Yeast Artificial Chromosomes
Mogayzel, Peter J. / Henning, Karla A. / Bittner, Michael L. / Novotny, Elizabeth A. / Schwiebert, Erik M. / Guggino, William B. / Jiang, Yuan / Rosenfeld, Melissa A. | 1997
61
Identification of a new nonsense mutation in the von Willebrand factor gene in patients with von Willebrand disease type III
Zhang, Z.P. / Falk, G. / Blombäck, M. / Egberg, N. / Anvret, M. | 1992
61
The first 17 amino acids of Huntingtin modulate its sub-cellular localization, aggregation and effects on calcium homeostasis
Rockabrand, Erica / Slepko, Natalia / Pantalone, Antonello / Nukala, Vidya N. / Kazantsev, Aleksey / Marsh, J. Lawrence / Sullivan, Patrick G. / Steffan, Joan S. / Sensi, Stefano L. / Thompson, Leslie Michels | 2007
61
A Novel Pseudoautosomal Human Gene Encodes A Putative Protein Similar to Ac-like Transposases
Esposito, Teresa / Gianfrancesco, Fernando / Ciccodicola, Alfredo / Montanini, Luisa / Mumm, Steven / Forabosco, Antonino | 1999
61
Structural Analysis of the Minisatellite Present at the 3' end of the Human Apolipoprotein B Gene: New Definition of the Alleles and Evolutionary Implications
Buresi, Catherine / Desmarais, Eric / Vigneron, Suzanne / Lamarti, Hatim / Smaoui, Nizar / Cambien, François / Roizes, Gérard | 1996
61
NPC1 defect results in abnormal platelet formation and function: studies in Niemann-Pick disease type C1 patients and zebrafish
Louwette, Sophie / Régal, Luc / Wittevrongel, Christine / Thys, Chantal / Vandeweeghde, Gwenny / Decuyper, Elisa / Leemans, Peter / De Vos, Rita / Van Geet, Chris / Jaeken, Jaak et al. | 2013
61
Ten novel mutations in the HEXA gene in non-Jewish Tay -- Sachs patients
Akli, Said / Chomel, Jean-Claude / Lacorte, Jean-Marc / Bachner, Lucien / Axel, / Poenaru, Livia | 1993
61
Genes encoding general initiation factors for RNA polymerase II transcription are dispersed in the human genome
Heng, Henry H. Q. / Xiao, Hua / Shi, Xiao-Mei / Greenblatt, Jack / Tsui, Lap-Chee | 1994
61
Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huet anomaly
Shultz, L. D. / Lyons, B. L. / Burzenski, L. M. / Gott, B. / Samuels, R. / Schweitzer, P. A. / Dreger, C. / Herrmann, H. / Kalscheuer, V. / Olins, A. L. | 2003
63
Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest
Johnson, Eric W. / Dubovsky, Jan / Rich, Stephen S. / O'Donovan, Cormac A. / Orr, Harry T. / Anderson, V. Elving / Gil-Nagel, Antonio / Ahmann, Peter / Dokken, Charles G. / Schneider, Derek T. et al. | 1998
63
CEB 15 detects a VNTR locus (Het: 92%) on chromosome 1p
Lauthier, V. / Mariat, D. / Vergnaud, G. | 1992
63
Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss
Liu, Xue-Zhong / Xia, Xia Juan / Xu, Li Rong / Pandya, Arti / Liang, Chuan Yu / Blanton, Susan H. / Brown, Steve D.M. / Steel, Karen P. / Nance, Walter E. | 2000
63
Autosomal dominant transmission of GLUT1 deficiency
Klepper, J. / Willemsen, M. / Verrips, A. / Guertsen, E. / Herrmann, R. / Kutzick, C. / Florcken, A. / Voit, T. | 2001
63-a
CEB 29 detects a VNTR locus (Het: 80%) on chromosome XY
Lauthier, V. / Buard, J. / Delattre, O. / Zucman, J. / Vergnaud, G. | 1992
64
CEB 13 detects a VNTR locus (Het: 93%) on chromosome 7q
Lauthier, V. / Vergnaud, G. | 1992
64
Modeling Cornelia de Lange syndrome in vitro and in vivo reveals a role for cohesin complex in neuronal survival and differentiation
Bottai, Daniele / Spreafico, Marco / Pistocchi, Anna / Fazio, Grazia / Adami, Raffaella / Grazioli, Paolo / Canu, Adriana / Bragato, Cinzia / Rigamonti, Silvia / Parodi, Chiara et al. | 2018
64
Synergic prodegradative activity of Bicalutamide and trehalose on the mutant androgen receptor responsible for spinal and bulbar muscular atrophy
Giorgetti, Elisa / Rusmini, Paola / Crippa, Valeria / Cristofani, Riccardo / Boncoraglio, Alessandra / Cicardi, Maria E. / Galbiati, Mariarita / Poletti, Angelo | 2015
64
Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development
Cunningham, Christopher L. / Martínez Cerdeño, Verónica / Navarro Porras, Eliecer / Prakash, Anish N. / Angelastro, James M. / Willemsen, Rob / Hagerman, Paul J. / Pessah, Isaac N. / Berman, Robert F. / Noctor, Stephen C. | 2011
64a
Dinucleotide repeat polymorphism at the human gene for cardiac beta- myosin heavy chain (MYH6)
Fougerousse, F / Dufour, C / Roudaut, C / Beckmann, JS | 1992
65
The conserved translocase Tim17 prevents mitochondrial DNA loss
Iacovino, Michelina / Granycome, Caroline / Sembongi, Hiroshi / Bokori-Brown, Monika / Butow, Ronald A. / Holt, Ian J. / Bateman, Joseph M. | 2009
65
Temporal and parental-specific expression of imprinted genes in a newly derived Chinese human embryonic stem cell line and embryoid bodies
Sun, Bo Wen / Yang, A. Cong / Feng, Yun / Sun, Yi Juan / Zhu, Yu fei / Zhang, Yi / Jiang, Hua / Li, Chun Liang / Gao, Fu Rong / Zhang, Zhi Hong et al. | 2006
65
A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing
Andrew, Susan E. / Goldberg, Y. Paul / Theilmann, Jane / Zeisler, Jutta / Hayden, Michael R. | 1994
65
Identical oligomeric and fibrillar structures captured from the brains of R6/2 and knock-in mouse models of Huntington's disease
Sathasivam, Kirupa / Lane, Amin / Legleiter, Justin / Warley, Alice / Woodman, Ben / Finkbeiner, Steve / Paganetti, Paolo / Muchowski, Paul J. / Wilson, Stuart / Bates, Gillian P. | 2010
65
Dinucleotide repeat polymorphism at the human c-myc oncogene locus (MYC)
Polymeropoulos, Mihael H. / Xiao, Hong / Merril, Carl R. | 1992
65-a
A polymorphic microsatellite repeat is located close to the promotor region of the c-fgr proto-oncogene (FGR) at chromosome 1p36.2-p36.1
Patel, Mukesh S. / Mankoo, Baljinder S / Brickell, Paul M. | 1992
65b
A polymorphic microsatellite repeat is located close to the promoter region of the c-fgr proto-oncogene (FGR) at chromosome 1p36.2-p36.1
Patel, MS / Mankoo, BS / Brickell, PM | 1992
66
Dinucleotide repeat polymorphism at the D6S223 locus
Bowcock, Anne / Osborne-Lawrence, Sherri / Barnes, Robert / Weiss, Leslie / Dunn, George | 1992
66
Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions
Tyynismaa, Henna / Sun, Ren / Ahola-Erkkilä, Sofia / Almusa, Henrikki / Pöyhönen, Rosanna / Korpela, Mari / Honkaniemi, Jari / Isohanni, Pirjo / Paetau, Anders / Wang, Liya et al. | 2012
66-a
Dinucleotide repeat polymorphism in the THRA1 gene
Futreal, P.A. / Barrett, J.C. / Wiseman, R.W. | 1992
67
Dinucleotide repeat polymorphism at the GABAA receptor {beta}3 (GABRB3) locus in the Angelman/Prader-- Willi region (AS/PWS) of chromosome 15
Mutirangura, Apiwat / Ledbetter, Susan A. / Kuwano, Akira / Chinault, A.Craig / Ledbetter, David H. | 1992
67-a
Tetranucleotide repeat polymorphism at the D21S11 locus
Sharma, V. / Litt, M. | 1992
69
Palmitoyl protein thioesterase (PPT) localizes into synaptosomes and synaptic vesicles in neurons: implications for infantile neuronal ceroid lipofuscinosis (INCL)
Lehtovirta, M. / Kyttala, A. / Eskelinen, E.-L. / Hess, M. / Heinonen, O. / Jalanko, A. | 2001
69
Comparison of the Human and Mouse Genes Encoding the Telomeric Protein, TRF1: Chromosomal Localization, Expression and Conserved Protein Domains
Broccoli, Dominique / Chong, Laura / Oelmann, Stefan / Fernald, Anthony A. / Marziliano, Nicola / van Steensel, Bas / Kipling, David / Le Beau, Michelle M. / de Lange, Titia | 1997
69
Transduction of wild-type merlin into human schwannoma cells decreases schwannoma cell growth and induces apoptosis
Schulze, K. M. M. / Hanemann, C. O. / Muller, H. W. / Hanenberg, H. | 2002
69
Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I
St-Louis, Maryse / Leclerc, Barbara / Laine, Jarmo / K.Salo, Matti / Holmberg, Chrlster / Tanguay, Robert M. | 1994
69
Author index
| 1992
69
Expansions of CAG Repeat Tracts are Frequent in a Yeast Mutant Defective in Okazaki Fragment Maturation
Schweitzer, Jill Kuglin / Livingston, Dennis M. | 1998
69
Cell cycle arrest enhances the in vitro cellular toxicity of the truncated Machado-Joseph disease gene product with an expanded polyglutamine stretch
Yoshizawa, Toshihiro / Yamagishi, Yasuaki / Koseki, Naoteru / Goto, Jun / Yoshida, Hideaki / Shibasaki, Futoshi / Shoji, Shin’ichi / Kanazawa, Ichiro | 2000
69
Characterization of ATM Gene Mutations in 66 Ataxia Telangiectasia Families
Sandoval, Natalia / Platzer, Matthias / Rosenthal, André / Dörk, Thilo / Bendix, Regina / Skawran, Britta / Stuhrmann, Manfred / Wegner, Rolf-Dieter / Sperling, Karl / Banin, Sharon et al. | 1999
69
Whole-genome bisulfite sequencing maps from multiple human tissues reveal novel CpG islands associated with tissue-specific regulation
Mendizabal, Isabel / Yi, Soojin V. | 2016
69
Selective inhibition of caspases in skeletal muscle reverses the apoptotic synaptic degeneration in slow-channel myasthenic syndrome
Zhu, Haipeng / Pytel, Peter / Gomez, Christopher M. | 2014
69
Molecular cloning and characteristics of a new apolipoprotein C-II mutant identified in three unrelated individuals with hypercholesterolemia and hypertriglyceridemia
Pullinger, Clive R. / Zysow, Bernice R. / Hennessy, Lori K. / Frost, Philip H. / Malloy, Mary J. / Kane, John P. | 1993
69
Isolation of a Testis-Specific cDNA on Chromosome 17q from a Region Adjacent to the Breakpoint of t(12, 17) Observed in a Patient with Acampomelic Campomelic Dysplasia and Sex Reversal
Ninomiya, Shinsuke / Isomura, Minoru / Narahara, Kouji / Seino, Yoshiki / Nakamura, Yusuke | 1996
69
Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity
Ibrahimi, O. A. / Zhang, F. / Eliseenkova, A. V. / Linhardt, R. J. / Mohammadi, M. | 2004
71
A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells
Maerker, Tina / van Wijk, Erwin / Overlack, Nora / Kersten, Ferry F.J. / McGee, JoAnn / Goldmann, Tobias / Sehn, Elisabeth / Roepman, Ronald / Walsh, Edward J. / Kremer, Hannie et al. | 2008
71
Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus
Charvin, D. / Cifuentes-Diaz, C. / Fonknechten, N. / Joshi, V. / Hazan, J. / Melki, J. / Betuing, S. | 2003
71
Association of DJ-1 and parkin mediated by pathogenic DJ-1 mutations and oxidative stress
Moore, D. J. / Zhang, L. / Troncoso, J. / Lee, M. K. / Hattori, N. / Mizuno, Y. / Dawson, T. M. / Dawson, V. L. | 2005
71
An autosomal homologue of the choroideremia gene colocalizes with the usher syndrome type II locus on the distal part of chromosome 1q
Cremers, Frans P.M. / Molloy, Catherine M. / van de Pol, Dorien J.R. / Hurk, José A.J.M.van den / Bach, Irene / Kessel, Ad H.M.Geurts van / Ropers, Hans-Hilger | 1992
71
Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion in one family
Mundlos, S. / Mulliken, J.B. / Abramsom, D.L. / Warman, M.L. / Knoll, J.H.M. / Olsen, B.R. | 1995
73
A Point Mutation in the 5' Splice Site of the Dystrophin Gene First Intron Responsible for X-Linked Dilated Cardiomyopathy
Milasin, Jelena / Muntoni, Francesco / Maria Severini, Giovanni / Bartoloni, Lucia / Vatta, Matteo / Krajinovic, Maja / Mateddu, Anna / Angelini, Corrado / Camerini, Fulvio / Falaschi, Arturo et al. | 1996
73
Distribution of trinucleotide repeat sequences across a 2 Mbp region containing the Huntington's disease gene
Hummerich, Holger / Baxendale, Sarah / Mott, Richard / F.Kirby, Susan / E.MacDonald, Marcy / Gusella, James / Lehrach, Hans / P.Bates, Gillian | 1994
74
C-type natriuretic peptide improves growth retardation in a mouse model of cardio-facio-cutaneous syndrome
Inoue, Shin-ichi / Morozumi, Naomi / Yoshikiyo, Kazunori / Maeda, Hiroaki / Aoki, Yoko | 2018
74
Control of epigenetic states by WT1 via regulation of de novo DNA methyltransferase 3A
Szemes, Marianna / Dallosso, Anthony R. / Melegh, Zsombor / Curry, Thomas / Li, Yifan / Rivers, Caroline / Uney, James / Mägdefrau, Ann-Sophie / Schwiderski, Karolin / Park, Ji H. et al. | 2013
75
PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity
Monnier, Carine / Dodé, Catherine / Fabre, Ludovic / Teixeira, Luis / Labesse, Gilles / Pin, Jean-Philippe / Hardelin, Jean-Pierre / Rondard, Philippe | 2009
75
Point mutation in a Becker muscular dystrophy patient
Roberts, Roland G. / Passos-Bueno, Maria Rita / Bobrow, Martin / Vainzof, Mariz / Zatz, Mayana | 1993
75
Human {beta}-Mannosidase cDNA Characterization and First Identification of a Mutation Associated with Human {beta}-Mannosidosis
Alkhayat, Aisha H. / Kraemer, Stacey A. / Leipprandt, Jeffrey R. / Macek, Milan / Kleijer, Wim J. / Friderici, Karen H. | 1998
75
Human �-mannosidase cDNA characterization and first identification of a mutation associated with human �-mannosidosis
Alkhayat, A. H. / Kraemer, S. A. / Leipprandt, J. R. / Macek, M. / Kleijer, W. J. / Friderici, K. H. | 1998
76
Protein interacting with C kinase (PICK1) is a suppressor of spinocerebellar ataxia 3-associated neurodegeneration in Drosophila
McGurk, Leeanne / Bonini, Nancy M. | 2012
76
Mutant huntingtin alters Tau phosphorylation and subcellular distribution
Blum, David / Herrera, Federico / Francelle, Laetitia / Mendes, Tiago / Basquin, Marie / Obriot, Hélène / Demeyer, Dominique / Sergeant, Nicolas / Gerhardt, Ellen / Brouillet, Emmanuel et al. | 2015
77
Polymorphisms in the PON gene cluster are associated with Alzheimer disease
Erlich, Porat M. / Lunetta, Kathryn L. / Cupples, L. Adrienne / Huyck, Matthew / Green, Robert C. / Baldwin, Clinton T. / Farrer, Lindsay A. / for the MIRAGE Study Group, | 2006
77
X chromosome-specific cDNA arrays: identification of genes that escape from X-inactivation and other applications
Sudbrak, R. / Wieczorek, G. / Nuber, U. A. / Mann, W. / Kirchner, R. / Erdogan, F. / Brown, C. J. / Wohrle, D. / Sterk, P. / Kalscheuer, V. M. | 2001
77
Trinucleotide Repeats in the Human Genome: Size Distributions for All Possible Triplets and Detection of Expanded Disease Alleles in a Group of Huntington Disease Individuals by the Repeat Expansion Detection Method
Hofferbert, Sigrun / Schanen, N. Carolyn / Chehab, Farid / Francke, Uta | 1997
77
Identification and developmental expression of the Xenopus laevis cystic fibrosis transmembrane conductance regulator gene
Tucker, Stephen J. / Tannahill, David / Higgins, Christopher F. | 1992
77
Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease
Hendrickx, Jan / Coucke, Paul / Dams, Erna / Lee, Philip / Odièvre, Michel / Corbeel, Lucien / Fernandes, John F. / Willems, Patrick J. | 1995
77
Epigenetic analysis of the Dlk1-Gtl2 imprinted domain on mouse chromosome 12: implications for imprinting control from comparison with Igf2-H19
Takada, S. / Paulsen, M. / Tevendale, M. / Tsai, C.-E. / Kelsey, G. / Cattanach, B. M. / Ferguson-Smith, A. C. | 2002
78
Tbx1 regulates brain vascularization
Cioffi, Sara / Martucciello, Stefania / Fulcoli, Filomena Gabriella / Bilio, Marchesa / Ferrentino, Rosa / Nusco, Edoardo / Illingworth, Elizabeth | 2014
78
APC mutations in FAP-associated desmoid tumours are non-random but not 'just right'
Latchford, Andrew / Volikos, Emmanouil / Johnson, Victoria / Rogers, Pauline / Suraweera, Nirosha / Tomlinson, Ian / Phillips, Robin / Silver, Andrew | 2007
79
Mutations in NOTCH3 cause the formation and retention of aggregates in the endoplasmic reticulum, leading to impaired cell proliferation
Takahashi, Keikichi / Adachi, Kayo / Yoshizaki, Kaichi / Kunimoto, Shohko / Kalaria, Raj N. / Watanabe, Atsushi | 2010
79
Association between Parkinson's disease and polymorphisms in the nNOS and iNOS genes in a community-based case-control study
Levecque, C. / Elbaz, A. / Clavel, J. / Richard, F. / Vidal, J.-S. / Amouyel, P. / Tzourio, C. / Alperovitch, A. / Chartier-Harlin, M.-C. | 2003
79
The sex-linked fidget mutation abolishes Brn4/Pou3f4 gene expression in the embryonic inner ear
Phippard, Deborah / Boyd, Yvonne / Reed, Vivienne / Fisher, Graham / Masson, Walter K. / Evans, Edward P. / Saunders, James C. / Crenshaw III, E. Bryan | 2000
79
Developmentally-programmed FMRP expression in oligodendrocytes: a potential role of FMRP in regulating translation in oligodendroglia progenitors
Wang, H. / Ku, L. / Osterhout, D. J. / Li, W. / Ahmadian, A. / Liang, Z. / Feng, Y. | 2004
79
A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype
Nunes, V. / Chillón, M. / Dörk, T. / Tümmler, B. / Casals, T. / Estivill, X. | 1993
79
Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis
Bradley, Linda A. D. / Sweatman, Angela K. / Lovering, Ruth C. / Jones, Alison M. / Morgan, Gareth / Levinsky, Roland J. / Kinnon, Christine | 1994
80
Naturally occurring germline and tumor-associated mutations within the ATP-binding motifs of PTEN lead to oxidative damage of DNA associated with decreased nuclear p53
He, Xin / Ni, Ying / Wang, Yu / Romigh, Todd / Eng, Charis | 2011
81
G6PD Aures: a new mutation (48 lle -> Thr) causing mild G6PD deficiency is associated with favism
Nafa, Khedoudja / Reghis, Abderrezak / Osmani, Naima / Baghli, Lamia / Benabadji, Mohamed / Kaplan, Jean-Claude / Vulliamy, Thomas J. / Luzzatto, Lucio | 1993
81
A Chromosome 4P Haplotype Segregating with Parkinson's Disease and Postural Tremor
Farrer, Matt / Gwinn-Hardy, Katrina / Muenter, Manfred / DeVrieze, Fabienne Wavrant / Crook, Richard / Perez-Tur, Jordi / Lincoln, Sarah / Maraganore, Demetrius / Adler, Charles / Newman, Stephanie et al. | 1999
81
Characterization of a Nonsense Mutation in the Ceruloplasmin Gene Resulting in Diabetes and Neurodegenerative Disease
Takahashi, Yoshitomo / Miyajima, Hiroaki / Shirabe, Susumu / Nagataki, Shigenobu / Suenaga, Akihito / Gitlin, Jonathan D. | 1996
82
Functional alterations of the ubiquitin-proteasome system in motor neurons of a mouse model of familial amyotrophic lateral sclerosis
Cheroni, Cristina / Marino, Marianna / Tortarolo, Massimo / Veglianese, Pietro / De Biasi, Silvia / Fontana, Elena / Zuccarello, Laura Vitellaro / Maynard, Christa J. / Dantuma, Nico P. / Bendotti, Caterina | 2009
82
Functional alterations of the ubiquitin-proteasome system in motor neurons of a mouse model of familial amyotrophic lateral sclerosisdagger
Cheroni, C. / Marino, M. / Tortarolo, M. / Veglianese, P. / De Biasi, S. / Fontana, E. / Zuccarello, L. V. / Maynard, C. J. / Dantuma, N. P. / Bendotti, C. | 2009
83
The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3
Sims, K.B. / Lebo, R.V. / Benson, G. / Shalish, C. / Schuback, D. / Chen, Z.Y. / Bruns, G. / Craig, I.W. / Golbus, M.S. / Breakefield, X.O. | 1992
83
Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome
Raux, Grégory / Bumsel, Emilie / Hecketsweiler, Bernadette / van Amelsvoort, Therese / Zinkstok, Janneke / Manouvrier-Hanu, Sylvie / Fantini, Carole / Brévière, Georges-Marie M. / Di Rosa, Gabriella / Pustorino, Giuseppina et al. | 2007
83
A novel cystic fibrosis mutation: deletion of seventeen nucleotides at the exon 10-intron 10 boundary of the CFTR gene, in a Sardinian patient
Leoni, G.B. / Rosatelli, M.C. / Cossu, G. / Pischedda, M.C. / De Virgiliis, S. / Cao, A. | 1993
83
Folliculin, a tumor suppressor associated with Birt-Hogg-Dube (BHD) syndrome, is a novel modifier of TDP-43 cytoplasmic translocation and aggregation
Xia, Qin / Wang, Guanghui / Wang, Hongfeng / Hu, Qingsong / Ying, Zheng | 2016
84
Epigenetic changes in preterm birth placenta suggest a role for ADAMTS genes in spontaneous preterm birth
Mani, Sneha / Ghosh, Jayashri / Lan, Yemin / Senapati, Suneeta / Ord, Teri / Sapienza, Carmen / Coutifaris, Christos / Mainigi, Monica | 2018
84
Loss of WNK2 expression by promoter gene methylation occurs in adult gliomas and triggers Rac1-mediated tumour cell invasiveness
Moniz, Sónia / Martinho, Olga / Pinto, Filipe / Sousa, Bárbara / Loureiro, Cláudia / Oliveira, Maria José / Moita, Luís Ferreira / Honavar, Mrinalini / Pinheiro, Célia / Pires, Manuel et al. | 2013
85
Developmental Expression of the Fac Gene Correlates with Congenital Defects in Fanconi Anemia Patients
Krasnoshtein, Flora / Buchwald, Manuel | 1996
85
Biosynthesis and Intracellular Targeting of the CLN3 Protein Defective in Batten Disease
Järvelä, Irma / Sainio, Markku / Rantamäki, Terhi / Olkkonen, Vesa M. / Carpén, Olli / Peltonen, Leena / Jalanko, Anu | 1998
85
Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNAIle mutation causing hypertrophic cardiomyopathy
Perli, Elena / Giordano, Carla / Tuppen, Helen A.L. / Montopoli, Monica / Montanari, Arianna / Orlandi, Maurizia / Pisano, Annalinda / Catanzaro, Daniela / Caparrotta, Laura / Musumeci, Beatrice et al. | 2012
85
Dinucleotide repeat polymorphism at the CRH gene
Gu, Jessie / Sadler, Lori / Daiger, Stephen / Wells, Dan / Wagner, Michael | 1993
85
Sequence of the murine Huntington dusease gene: evidence for conservation, and polymorphism in a triplet (CCG) repeat alternate splicing
Lin, Biaoyand / Nasir, Jamal / MacDonald, Helen / Hutchinson, Gordon / Graham, Rona K. / Rommesns, Johanna M. / Hayden, Michael R. | 1994
85
Increased Proportion of Exon 9 Alternatively Spliced CFTR Transcripts in vas Deferens Compared with Nasal Epithelial Cells
Teng, Hui / Jorissen, Mark / Van Poppe, Hein / Legius, Eric / Cassiman, Jean-Jacques / Cuppens, Harry | 1997
85
Variable and hierarchical size distribution of L1-retroelement-enriched CENP-A clusters within a functional human neocentromere
Chueh, A. C. / Wong, L. H. / Wong, N. / Choo, K. H. | 2005
85
Analysis of short tandem repeat (STR) allele frequency distributions in a Balinese population
Morell, Robert / Liang, Yong / Asher, James H. / Weber, James L. / Hinnant, John T. / Winata, Sunaryana / Arhya, I. Nyomen / Friedman, Thomas B. | 1995
86
Tau hyperphosphorylation and deregulation of calcineurin in mouse models of Huntington's disease
Gratuze, Maud / Noël, Anastasia / Julien, Carl / Cisbani, Giulia / Milot-Rousseau, Philippe / Morin, Françoise / Dickler, Maya / Goupil, Claudia / Bezeau, François / Poitras, Isabelle et al. | 2015
86
Dinucleotide repeat polymorphisms at the D13S192 and D13S193 loci
Hong, Hee-Kyung / Giorda, Roberto / Trucco, Massimo / Chakravarti, Aravinda | 1993
87
Three dinucleotide microsatellite polymorphisms on human chromosome 13
Hennies, Hans-Christian / Reis, André | 1993
87
Significant evidence for linkage of febrile seizures to chromosome 5q14-q15
Nakayama, Junko / Hamano, Kenzo / Iwasaki, Nobuaki / Nakahara, Satoko / Horigome, Yumi / Saitoh, Hisako / Aoki, Takeshi / Maki, Takako / Kikuchi, Masahiro / Migita, Takuo et al. | 2000
87
An 18q- Syndrome Breakpoint Resides between the Duplicated Serpins SCCA1 and SCCA2 and Arises Via a Cryptic Rearrangement With Satellite III DNA
Katz, Samuel G. / Schneider, Sandra S. / Bartuski, Allison / Trask, Barbara J. / Massa, Hillary / Overhauser, Joan / Lalande, Marc / Lansdorp, Peter M. / Silverman, Gary A. | 1999
87
Brain-specific tryptophan hydroxylase 2 (TPH2): a functional Pro206Ser substitution and variation in the 5'-region are associated with bipolar affective disorder
Cichon, Sven / Winge, Ingeborg / Mattheisen, Manuel / Georgi, Alexander / Karpushova, Anna / Freudenberg, Jan / Freudenberg-Hua, Yun / Babadjanova, Gulia / Van Den Bogaert, Ann / Abramova, Lilia I. et al. | 2008
87
Identification and characterization of the methyl arginines in the fragile X mental retardation protein Fmrp
Stetler, April / Winograd, Claudia / Sayegh, Joyce / Cheever, Anne / Patton, Erin / Zhang, Xing / Clarke, Steven / Ceman, Stephanie | 2006
87
Brain-specific tryptophan hydroxylase 2 (TPH2): a functional Pro206Ser substitution and variation in the 5prime-region are associated with bipolar affective disorder
Cichon, S. / Winge, I. / Mattheisen, M. / Georgi, A. / Karpushova, A. / Freudenberg, J. / Freudenberg-Hua, Y. / Babadjanova, G. / Van Den Bogaert, A. / Abramova, L. I. | 2008
87
Disruption of scribble (Scrb1) causes severe neural tube defects in the circletail mouse
Murdoch, J. N. / Henderson, D. J. / Doudney, K. / Gaston-Massuet, C. / Phillips, H. M. / Paternotte, C. / Arkell, R. / Stanier, P. / Copp, A. J. | 2003
87
Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa
Chakarova, C. F. / Hims, M. M. / Bolz, H. / Abu-Safieh, L. / Patel, R. J. / Papaioannou, M. G. / Inglehearn, C. F. / Keen, T. J. / Willis, C. / Moore, A. T. | 2002
88
A highly informative dinucleotide repeat polymorphism at the D2S211 locus linked to ALPP, FN1 and TNP1
Barber, Thomas D. / Morell, Robert / Johnson, Daniel H. / Asher, James H. / Friedman, Thomas B. | 1993
89
Tetranucleotide repeat polymorphism at the D11S488 locus
Browne, D. / Gen, M. / Evans, G.A. / Clark, S.P. / Litt, M. | 1993
89-a
A polymorphic dinucleotide repeat probe on chromosome 3p: LIB 44-36ca (D3S769)
Schmidt, Laura / Li, Hua / Wei, Ming-Hui / Lerman, Michael I. / Zbar, Berton / Tory, Kalman | 1993
90
Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development
Ghosh, Amiya K. / Murga-Zamalloa, Carlos A. / Chan, Lansze / Hitchcock, Peter F. / Swaroop, Anand / Khanna, Hemant | 2010
90
A short tandem repeat polymorphism at the endothelin 1 (EDN1) locus
Pages, J.-C. / Drieu, C. / Blanché, H. / Beckmann, J. / Cann, H.M. | 1993
90
SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth
Corradi, Anna / Fadda, Manuela / Piton, Amélie / Patry, Lysanne / Marte, Antonella / Rossi, Pia / Cadieux-Dion, Maxime / Gauthier, Julie / Lapointe, Line / Mottron, Laurent et al. | 2014
90
The {beta}1 subunit of the Na,K-ATPase pump interacts with megalencephalic leucoencephalopathy with subcortical cysts protein 1 (MLC1) in brain astrocytes: new insights into MLC pathogenesis
Brignone, Maria S. / Lanciotti, Angela / Macioce, Pompeo / Macchia, Gianfranco / Gaetani, Matteo / Aloisi, Francesca / Petrucci, Tamara C. / Ambrosini, Elena | 2011
90-a
Dinucleotide repeat polymorphism at the D5S178 locus
Szubryt, S.R. / Neuman, W.L. / Westbrook, C.A. | 1993
91
Mouse models for the Wolf-Hirschhorn deletion syndrome
Naf, D. / Wilson, L. A. / Bergstrom, R. A. / Smith, R. S. / Goodwin, N. C. / Verkerk, A. / van Ommen, G. J. / Ackerman, S. L. / Frankel, W. N. / Schimenti, J. C. | 2001
91
Mutational Analysis of the SOX9 Gene in Campomelic Dysplasia and Autosomal Sex Reversal: Lack of Genotype/Phenotype Correlations
Meyer, Jobst / Südbeck, Peter / Held, Marika / Wagner, Thomas / Schmitz, M. Lienhard / Dagna Bricarelli, Franca / Eggermont, Ephrem / Friedrich, Ursula / Haas, Oskar A. / Kobelt, Albrecht et al. | 1997
91
A Mspl polymorphism and linkage mapping of the human proteintyrosine phosphatase G (PTPRG) gene
Latif, F. / Tory, K. / Modi, W. / Geil, L. / LaForgia, S. / Huebner, K. / Zbar, B. / Lerman, M.I. | 1993
91
Isolation and characterization of a novel gene with differential expression in benign and malignant human breast tumours
Adams, S.M. / Helps, N.R. / Sharp, M.G.F. / Brammar, W.J. / Walker, R.A. / Varley, J.M. | 1992
91
The mouse H19 locus mediates a transition between imprinted and non-imprinted DNA replication patterns
Greally, John M. / Starr, Diana J. / Hwang, Steven / Song, Liqun / Jaarola, Maarit / Zemel, Sharon | 1998
91
ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy
Nishigaki, Y. / Marti, R. / Hirano, M. | 2004
91a
A MspI polymorphism and linkage mapping of the human protein-tyrosine phosphatase G (PTPRG) gene
Latif, F / Tory, K / Modi, W / Geil, L / LaForgia, S / Huebner, K / Zbar, B / Lerman, MI | 1993
91-a
Dinucleotide repeat polymorphism at the D18S99 locus
Erdmann, Jeanette / Nöthen, Markus M. | 1993
92
Polymorphism of the protein C inhibitor (PCI) gene on chromosome 14
Ashbourne, Katherine J. / Byth, Barbara C. / Meijers, Joost C.M. / Cox, Diane W. | 1993
92
The mixed-lineage leukemia fusion partner AF4 stimulates RNA polymerase II transcriptional elongation and mediates coordinated chromatin remodeling
Bitoun, Emmanuelle / Oliver, Peter L. / Davies, Kay E. | 2007
92-a
Dinucleotide repeat polymorphism at the DXS573 locus
Roustan, P. / Curtis, A.R.J. / Kamakari, S. / Thiselton, D. / Lindsay, S. / Bhattacharya, S.S. | 1993
93
Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease
Novelletto, Andrea / Persichetti, Francesca / Sabbadin, Guglielmo / Mandich, Paola / Bellone, Emilia / Ajmar, Franco / Pergola, Mariano / Senno, Laura Del / E.MacDonald, Marcy / F.Gusella, James et al. | 1994
93
CGG/CCG repeats exhibit orientation-dependent instability and orientation-independent fragility in Saccharomyces cerevisiae
Balakumaran, Bala S. / Freudenreich, Catherine H. / Zakian, Virginia A. | 2000
93
Genetic control of the circulating concentration of transforming growth factor type �1
Grainger, D. J. / Heathcote, K. / Chiano, M. / Snieder, H. / Kemp, P. R. / Metcalfe, J. C. / Carter, N. D. / Spector, T. D. | 1999
93
Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons?
Rossoll, W. / Kroning, A.-K. / Ohndorf, U.-M. / Steegborn, C. / Jablonka, S. / Sendtner, M. | 2002
93
Genetic Control of the Circulating Concentration of Transforming Growth Factor Type {beta}1
Grainger, David J. / Heathcote, Kirsten / Chiano, Mathias / Snieder, Harold / Kemp, Paul R. / Metcalfe, James C. / Carter, Nicholas D. / Specter, Tim D. | 1999
93
Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q
Sankila, Eeva-Marja / Pakarinen, Leenamaija / Kääriäinen, Helena / Aittomäki, Kristiina / Karjalainen, Seppo / Sistonen, Pertti / de la Chapelle, Albert | 1995
95
Cloning of the X-linked glycerol kinase gene
Willard, Huntington F. | 1993
95
Alternative Splicing of Exon 14 Determines Nuclear or Cytoplasmic Localisation of FMR1 Protein Isoforms
Sittler, Annie / Devys, Didier / Weber, Chantal / Mandel, Jean-Louis | 1996
95
Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB
Liu, J. / Nealon, J. G. / Weinstein, L. S. | 2005
96
GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay
Rumping, Lynne / Tessadori, Federico / Pouwels, Petra J W / Vringer, Esmee / Wijnen, Jannie P / Bhogal, Alex A / Savelberg, Sanne M C / Duran, Karen J / Bakkers, Mark J G / Ramos, Rúben J J et al. | 2018
96
Female Mecp2+/- mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies
Samaco, Rodney C. / McGraw, Christopher M. / Ward, Christopher S. / Sun, Yaling / Neul, Jeffrey L. / Zoghbi, Huda Y. | 2013
97
Dlx5 and Dlx6 control uterine adenogenesis during post-natal maturation: possible consequences for endometriosis
Bellessort, Brice / Le Cardinal, Marine / Bachelot, Anne / Narboux-Nême, Nicolas / Garagnani, Paolo / Pirazzini, Chiara / Barbieri, Ottavia / Mastracci, Luca / Jonchere, Vincent / Duvernois-Berthet, Evelyne et al. | 2016
97
Deletion of smn-1, the Caenorhabditis elegans ortholog of the spinal muscular atrophy gene, results in locomotor dysfunction and reduced lifespan
Briese, Michael / Esmaeili, Behrooz / Fraboulet, Sandrine / Burt, Emma C. / Christodoulou, Stefanos / Towers, Paula R. / Davies, Kay E. / Sattelle, David B. | 2009
97
Distinct expression profile in fumarate-hydratase-deficient uterine fibroids
Vanharanta, Sakari / Pollard, Patrick J. / Lehtonen, Heli J. / Laiho, Päivi / Sjöberg, Jari / Leminen, Arto / Aittomäki, Kristiina / Arola, Johanna / Kruhoffer, Mogens / Ørntoft, Torben F. et al. | 2006
97
Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxrb interval of the mouse Y chromosome of the Dffry gene
Brown, Graeme M. / Furlong, Robert A. / Sargent, Carole A. / Erickson, Robert P. / Longepied, Guy / Mitchell, Michael / Jones, Michael H. / Hargreave, Timothy B. / Cooke, Howard J. / Affara, Nabeel A. | 1998
97
Cloning of the X-linked glycerol kinase deficiency gene and its identification by sequence comparison to the Bacillus subtilis homologue
Sargent, Carole A. / Affara, NabeelA. / Bentley, Elizabeth / Pelmear, Adele / Bailey, David M.D. / Davey, Phillip / Dow, David / Leversha, Margaret / Aplin, Helen / Besley, Guy T.N. et al. | 1993
97
The gene encoding the palmitoylated erythrocyte membrane protein, p55, originates at the CpG island 3' to the factor VIII gene
Metzenberg, Aïda B. / Gitschier, Jane | 1992
98
Glutamine tract length of human androgen receptors affects hormone-dependent and -independent prostate cancer in mice
Albertelli, Megan A. / O'Mahony, Orla A. / Brogley, Michele / Tosoian, Jeffrey / Steinkamp, Mara / Daignault, Stephanie / Wojno, Kirk / Robins, Diane M. | 2008
99
Impaired replication dynamics at the FRA3B common fragile site
Palakodeti, Aparna / Lucas, Isabelle / Jiang, Yanwen / Young, David J. / Fernald, Anthony A. / Karrison, Theodore / Le Beau, Michelle M. | 2010
99
Construction of a YAC contig and a STS map spanning at least seven megabasepairs in chromosome 5q34-35
Lu-Kuo, Jennifer M. / Pasller, Denis Le / Welssenbach, Jean / Chumakov, llya / Cohen, Danlel / Ward, David C. | 1994
99
Quantification, by Solid-Phase Minisequencing, of the Telomeric and Centromeric Copies of the Survival Motor Neuron Gene in Families with Spinal Muscular Atrophy
Schwartz, Marianne / Sørensen, Nicolina / Hansen, Flemming Juul / Hertz, Jens Michael / Nørby, Søren / Tranebjærg, Lisbeth / Skovby, Flemming | 1997
99
Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability
Medghalchi, S. M. / Frischmeyer, P. A. / Mendell, J. T. / Kelly, A. G. / Lawler, A. M. / Dietz, H. C. | 2001
99
Nonsense mediated decay downregulates conserved alternatively spliced ABCC4 transcripts bearing nonsense codons
Lamba, J. K. / Adachi, M. / Sun, D. / Tammur, J. / Schuetz, E. G. / Allikmets, R. / Schuetz, J. D. | 2003
99
Transgenic Mice Harboring a Full-Length Human Mutant DRPLA Gene Exhibit Age-Dependent Intergenerational and Somatic Instabilities of CAG repeats Comparable with Those in DRPLA patients
Sato, Toshiya / Oyake, Mutsuo / Nakamura, Kenji / Nakao, Kazuki / Fukusima, Yoshimitsu / Onodera, Osamu / Igarashi, Shuichi / Takano, Hiroki / Kikugawa, Koki / Ishida, Yoshinori et al. | 1999
99
Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those of DRPLA patients
Sato, T. / Oyake, M. / Nakamura, K. / Nakao, K. / Fukusima, Y. / Onodera, O. / Igarashi, S. / Takano, H. / Kikugawa, K. / Ishida, Y. | 1999
99
Deletions of both {alpha}5(IV) and {alpha}6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours
Heidet, Laurence / Dahan, Karin / Zhou, Jing / Xu, Zhang / Cochat, Pierre / Gould, James D.M. / Leppig, Kathleen A. / Proesmans, Willy / Guyot, Claude / Guillot, Marcel et al. | 1995
100
Dominant negative effect of polyglutamine expansion perturbs normal function of ataxin-3 in neuronal cells
Neves-Carvalho, Andreia / Logarinho, Elsa / Freitas, Ana / Duarte-Silva, Sara / Costa, Maria do Carmo / Silva-Fernandes, Anabela / Martins, Margarida / Serra, Sofia Cravino / Lopes, André T. / Paulson, Henry L. et al. | 2015
101
IRE1 plays an essential role in ER stress-mediated aggregation of mutant huntingtin via the inhibition of autophagy flux
Lee, Huikyong / Noh, Jee-Yeon / Oh, Yumin / Kim, Youngdoo / Chang, Jae-Woong / Chung, Chul-Woong / Lee, Soon-Tae / Kim, Manho / Ryu, Hoon / Jung, Yong-Keun | 2012
101
Profound obesity associated with a balanced translocation that disrupts the SIM1 gene
Holder, J. Lloyd / Butte, Nancy F. / Zinn, Andrew R. | 2000
103
Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans
Zheng, Q. Y. / Yan, D. / Ouyang, X. M. / Du, L. L. / Yu, H. / Chang, B. / Johnson, K. R. / Liu, X. Z. | 2005
103
A de Novo Case of Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) of Maternal Origin: A New Mechanism for Deletion in 17p11.2?
LeGuern, Eric / Gouider, Riadh / Ravisé, Nicole / Lopes, Judith / Tardieu, Sandrine / Gugenheim, Michel / Abbas, Nacer / Bouche, Pierre / Agid, Yves / Brice, Alexis | 1996
103
Characterization of a 4.8kb transcript from the Duchenne muscular dystrophy locus expressed in Schwannoma cells
Blake, Derek J. / Love, Donald R. / Tinsley, Jonathon / Morris, Glenn E. / Turley, Helen / Gatter, Kevin / Dickson, George / Edwards, Yvonne H. / Davies, Kay E. | 1992
103
A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2
Gotter, A. L. / Shaikh, T. H. / Budarf, M. L. / Rhodes, C. H. / Emanuel, B. S. | 2004
104
Acetylation of the KXGS motifs in tau is a critical determinant in modulation of tau aggregation and clearance
Cook, Casey / Carlomagno, Yari / Gendron, Tania F. / Dunmore, Judy / Scheffel, Kristyn / Stetler, Caroline / Davis, Mary / Dickson, Dennis / Jarpe, Matthew / DeTure, Michael et al. | 2014
104
The KRAB-containing zinc-finger transcriptional regulator ZBRK1 activates SCA2 gene transcription through direct interaction with its gene product, ataxin-2
Hallen, Linda / Klein, Holger / Stoschek, Carola / Wehrmeyer, Silke / Nonhoff, Ute / Ralser, Markus / Wilde, Jeannine / Röhr, Christina / Schweiger, Michal R. / Zatloukal, Kurt et al. | 2011
105
Prevention of oculopharyngeal muscular dystrophy-associated aggregation of nuclear poly(A)-binding protein with a single-domain intracellular antibody
Verheesen, Peter / de Kluijver, Anna / van Koningsbruggen, Silvana / de Brij, Marjolein / de Haard, Hans J. / van Ommen, Gert-Jan B. / van der Maarel, Silvère M. / Verrips, C. Theo | 2006
105
Loss of CRB2 in Müller glial cells modifies a CRB1-associated retinitis pigmentosa phenotype into a Leber congenital amaurosis phenotype
Quinn, Peter M / Mulder, Aat A / Henrique Alves, C / Desrosiers, Mélissa / de Vries, Sharon I / Klooster, Jan / Dalkara, Deniz / Koster, Abraham J / Jost, Carolina R / Wijnholds, Jan | 2018
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