Characterization of the Schizosaccharomyces pombe orthologue of the human survival motor neuron (SMN) protein (English)
- New search for: Owen, Nicholas
- New search for: Doe, Claudette L.
- New search for: Mellor, Jane
- New search for: Davies, Kay E.
- New search for: Owen, Nicholas
- New search for: Doe, Claudette L.
- New search for: Mellor, Jane
- New search for: Davies, Kay E.
In:
Human molecular genetics
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9
, 5
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675-
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2000
- Article (Journal) / Electronic Resource
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Title:Characterization of the Schizosaccharomyces pombe orthologue of the human survival motor neuron (SMN) protein
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Contributors:Owen, Nicholas ( author ) / Doe, Claudette L. ( author ) / Mellor, Jane ( author ) / Davies, Kay E. ( author )
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Published in:Human molecular genetics ; 9, 5 ; 675-
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Publisher:
- New search for: Oxford University Press
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Publication date:2000-03-22
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ISSN:
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DOI:
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Type of media:Article (Journal)
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Type of material:Electronic Resource
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Language:English
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Source:
Table of contents – Volume 9, Issue 5
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.
- 663
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The Schizosaccharomyces pombe protein Yab8p and a novel factor, Yip1p, share structural and functional similarity with the spinal muscular atrophy-associated proteins SMN and SIP1Hannus, Stefan / Bühler, Dirk / Romano, Marta / Seraphin, Bertrand / Fischer, Utz et al. | 2000
- 675
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Characterization of the Schizosaccharomyces pombe orthologue of the human survival motor neuron (SMN) proteinOwen, Nicholas / Doe, Claudette L. / Mellor, Jane / Davies, Kay E. et al. | 2000
- 685
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RBMY, a probable human spermatogenesis factor, and other hnRNP G proteins interact with Tra2{beta} and affect splicingVenables, J.P. / Elliott, D.J. / Makarova, O.V. / Makarov, E.M. / Cooke, H.J. / Eperon, I.C. et al. | 2000
- 695
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The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndromeClement-Jones, Mark / Schiller, Simone / Rao, Ercole / Blaschke, Rüdiger J. / Zuniga, Aimee / Zeller, Rolf / Robson, Stephen C. / Binder, Gerhard / Glass, Ian / Strachan, Tom et al. | 2000
- 703
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Doublecortin mutations cluster in evolutionarily conserved functional domainsSapir, Tamar / Horesh, David / Caspi, Michal / Atlas, Roee / Burgess, Harold A. / Wolf, Sharon Grayer / Francis, Fiona / Chelly, Jamel / Elbaum, Michael / Pietrokovski, Shmuel et al. | 2000
- 713
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Allele diversity and germline mutation at the insulin minisatelliteStead, John D.H. / Jeffreys, Alec J. et al. | 2000
- 725
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High resolution analysis of haplotype diversity and meiotic crossover in the human TAP2 recombination hotspotJeffreys, Alec J. / Ritchie, Alistair / Neumann, Rita et al. | 2000
- 735
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Batten disease: evaluation of CLN3 mutations on protein localization and functionHaskell, Ronald E. / Carr, Carrie J. / Pearce, David A. / Bennett, Michael J. / Davidson, Beverly L. et al. | 2000
- 745
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Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanismsLux, Andreas / Gallione, Carol J. / Marchuk, Douglas A. et al. | 2000
- 757
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Retention of imprinting of the human apoptosis-related gene TSSC3 in human brain tumorsMüller, Sabine / van den Boom, Dirk / Zirkel, Dorothea / Köster, Hubert / Berthold, Frank / Schwab, Manfred / Westphal, Manfred / Zumkeller, Walter et al. | 2000
- 765
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Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosisZhou, Xiao-Ping / Marsh, Debbie J. / Hampel, Heather / Mulliken, John B. / Gimm, Oliver / Eng, Charis et al. | 2000
- 769
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Germline and somatic loss of function of the mouse cpk gene causes biliary ductal pathology that is genetically modulatedGuay-Woodford, Lisa M. / Green, William J. / Lindsey, J. Russell / Beier, David R. et al. | 2000
- 779
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Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locusLorenzetti, Diego / Watase, Kei / Xu, Bisong / Matzuk, Martin M. / Orr, Harry T. / Zoghbi, Huda Y. et al. | 2000
- 787
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Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31Coffeen, Christin M. / McKenna, Catherine E. / Koeppen, Arnulf H. / Plaster, Nikki M. / Maragakis, Nicholas / Mihalopoulos, Jason / Schwankhaus, John D. / Flanigan, Kevin M. / Gregg, Ronald G. / Ptácek, Louis J. et al. | 2000
- 795
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Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiencyJaksch, Michaela / Ogilvie, Isla / Yao, Jianbo / Kortenhaus, Gisela / Bresser, Hans-Georg / Gerbitz, Klaus-Dieter / Shoubridge, Eric A. et al. | 2000
- 803
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Increased motoneuron survival and improved neuromuscular function in transgenic ALS mice after intraspinal injection of an adeno-associated virus encoding Bcl-2Azzouz, Mimoun / Hottinger, Andreas / Paterna, Jean-Charles / Zurn, Anne D. / Aebischer, Patrick / Büeler, Hansruedi et al. | 2000
- 813
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Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear locationEl Ghouzzi, Vincent / Legeai-Mallet, Laurence / Aresta, Sandra / Benoist, Catherine / Munnich, Arnold / Gunzburg, Jean de / Bonaventure, Jacky et al. | 2000
- 821
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The mouse neurological mutant flailer expresses a novel hybrid gene derived by exon shuffling between Gnb5 and Myo5aJones, Julie M. / Huang, Jian-Dong / Mermall, Valerie / Hamilton, Bruce A. / Mooseker, Mark S. / Escayg, Andrew / Copeland, Neal G. / Jenkins, Nancy A. / Meisler, Miriam H. et al. | 2000
- 829
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Longer polyglutamine tracts in the androgen receptor are associated with moderate to severe undermasculinized genitalia in XY malesLim, H.N. / Chen, H. / McBride, S. / Dunning, A.M. / Nixon, R.M. / Hughes, I.A. / Hawkins, J.R. et al. | 2000
- 835
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An imprinted antisense transcript at the human GNAS1 locusHayward, Bruce E. / Bonthron, David T. et al. | 2000
- 843
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Family-based association mapping provides evidence for a gene for reading disability on chromosome 15qMorris, Derek W. / Robinson, Lucie / Turic, Darko / Duke, Mary / Webb, Victoria / Milham, Charis / Hopkin, Elizabeth / Pound, Kirsty / Fernando, Shamira / Easton, Martha et al. | 2000
- 849
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Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophyFrugier, Tony / Tiziano, Francesco D. / Cifuentes-Diaz, Carmen / Miniou, Pierre / Roblot, Natacha / Dierich, Andrée / Le Meur, Marianne / Melki, Judith et al. | 2000