Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder (English)

In: HUMAN MOLECULAR GENETICS   ;  25 ,  3  ;  546-557  ;  2016
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Table of contents – Volume 25, Issue 3

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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.

419
Large-scale probabilistic 3D organization of human chromosome territories
Sehgal, Nitasha / Fritz, Andrew J. / Vecerova, Jaromira / Ding, Hu / Chen, Zihe / Stojkovic, Branislav / Bhattacharya, Sambit / Xu, Jinhui / Berezney, Ronald | 2016
437
Urogenital development in Pallister-Hall syndrome is disrupted in a cell-lineage-specific manner by constitutive expression of GLI3 repressor
Blake, Joshua / Hu, Di / Cain, Jason E. / Rosenblum, Norman D. | 2016
448
Disruption of polycystin-L causes hippocampal and thalamocortical hyperexcitability
Yao, Gang / Luo, Chong / Harvey, Michael / Wu, Maoqing / Schreiber, Taylor H. / Du, Yanjun / Basora, Nuria / Su, Xuefeng / Contreras, Diego / Zhou, Jing | 2016
459
Mitochondrial defects and neurodegeneration in mice overexpressing wild-type or G399S mutant HtrA2
Casadei, Nicolas / Sood, Poonam / Ulrich, Thomas / Fallier-Becker, Petra / Kieper, Nicole / Helling, Stefan / May, Caroline / Glaab, Enrico / Chen, Jing / Nuber, Silke et al. | 2016
472
Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD
Sobrier, Marie-Laure / Tsai, Yu-Cheng / Pérez, Christelle / Leheup, Bruno / Bouceba, Tahar / Duquesnoy, Philippe / Copin, Bruno / Sizova, Daria / Penzo, Alfredo / Stanger, Ben Z. et al. | 2016
484
Fine mapping of meiotic NAHR-associated crossovers causing large NF1 deletions
Hillmer, Morten / Wagner, David / Summerer, Anna / Daiber, Michaela / Mautner, Victor-Felix / Messiaen, Ludwine / Cooper, David N. / Kehrer-Sawatzki, Hildegard | 2016
497
OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome
Chevrier, Véronique / Bruel, Ange-Line / Van Dam, Teunis J. P. / Franco, Brunella / Lo Scalzo, Melissa / Lembo, Frédérique / Audebert, Stéphane / Baudelet, Emilie / Isnardon, Daniel / Bole, Angélique et al. | 2016
514
SMN deficiency does not induce oxidative stress in SMA iPSC-derived astrocytes or motor neurons
Patitucci, Teresa N. / Ebert, Allison D. | 2016
524
Impact of the Usher syndrome on olfaction
Jansen, Fabian / Kalbe, Benjamin / Scholz, Paul / Mikosz, Marta / Wunderlich, Kirsten A. / Kurtenbach, Stefan / Nagel-Wolfrum, Kerstin / Wolfrum, Uwe / Hatt, Hanns / Osterloh, Sabrina | 2016
534
TDP-43 functions within a network of hnRNP proteins to inhibit the production of a truncated human SORT1 receptor
Mohagheghi, Fatemeh / Prudencio, Mercedes / Stuani, Cristiana / Cook, Casey / Jansen-West, Karen / Dickson, Dennis W. / Petrucelli, Leonard / Buratti, Emanuele | 2016
546
Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder
Sollis, Elliot / Graham, Sarah A. / Vino, Arianna / Froehlich, Henning / Vreeburg, Maaike / Dimitropoulou, Danai / Gilissen, Christian / Pfundt, Rolph / Rappold, Gudrun A. / Brunner, Han G. et al. | 2016
558
The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome
Brown, Kyla / Selfridge, Jim / Lagger, Sabine / Connelly, John / De Sousa, Dina / Kerr, Alastair / Webb, Shaun / Guy, Jacky / Merusi, Cara / Koerner, Martha V. et al. | 2016
571
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
Halim, Danny / Hofstra, Robert M.W. / Signorile, Luca / Verdijk, Rob M. / van der Werf, Christine S. / Sribudiani, Yunia / Brouwer, Rutger W. W. / van IJcken, Wilfred F.J. / Dahl, Niklas / Verheij, Joke B.G.M. et al. | 2016
584
The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation
Jiang, Pingping / Jin, Xiaofen / Peng, Yanyan / Wang, Meng / Liu, Hao / Liu, Xiaoling / Zhang, Zengjun / Ji, Yanchun / Zhang, Juanjuan / Liang, Min et al. | 2016
597
De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome
Srivastava, Anshika / Ritesh, K.C. / Tsan, Yao-Chang / Liao, Rosy / Su, Fengyun / Cao, Xuhong / Hannibal, Mark C. / Keegan, Catherine E. / Chinnaiyan, Arul M. / Martin, Donna M. et al. | 2016
609
Epigenome-wide association study identifies TXNIP gene associated with type 2 diabetes mellitus and sustained hyperglycemia
Soriano-Tárraga, Carolina / Jiménez-Conde, Jordi / Giralt-Steinhauer, Eva / Mola-Caminal, Marina / Vivanco-Hidalgo, Rosa M. / Ois, Angel / Rodríguez-Campello, Ana / Cuadrado-Godia, Elisa / Sayols-Baixeras, Sergi / Elosua, Roberto et al. | 2016
620
Meta-analysis of genome-wide association studies identifies multiple lung cancer susceptibility loci in never-smoking Asian women
Wang, Zhaoming / Seow, Wei Jie / Shiraishi, Kouya / Hsiung, Chao A. / Matsuo, Keitaro / Liu, Jie / Chen, Kexin / Yamji, Taiki / Yang, Yang / Chang, I-Shou et al. | 2016
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