Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?
about
Gemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gemsIntragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.The survival motor neuron protein forms soluble glycine zipper oligomersHeterogeneity of subcellular localization and electrophoretic mobility of survival motor neuron (SMN) protein in mammalian neural cells and tissuesSMN and symmetric arginine dimethylation of RNA polymerase II C-terminal domain control terminationA degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severitySMN in spinal muscular atrophy and snRNP biogenesisA single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophyDiagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysisTranslational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivoSubtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7.Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?Specific sequences of the Sm and Sm-like (Lsm) proteins mediate their interaction with the spinal muscular atrophy disease gene product (SMN).Invertebrate models of spinal muscular atrophy: insights into mechanisms and potential therapeutics.Maternal mosaicism for a second mutational event in a type I spinal muscular atrophy family.Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counselingDe novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counselingSmall nucleolar RNAs: versatile trans-acting molecules of ancient evolutionary origin.Spinal muscular atrophy: recent advances and future prospects.Enhancement of SMN protein levels in a mouse model of spinal muscular atrophy using novel drug-like compoundsAdvances in therapeutic development for spinal muscular atrophy.Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy numberIdentification of a novel cyclic AMP-response element (CRE-II) and the role of CREB-1 in the cAMP-induced expression of the survival motor neuron (SMN) gene.Spinal muscular atrophy: molecular genetics and diagnostics.SMN mutants of spinal muscular atrophy patients are defective in binding to snRNP proteins.A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy.Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects.Developmental regulation of SMN expression: pathophysiological implications and perspectives for therapy development in spinal muscular atrophy.Molecular basis of genetic heterogeneity: role of the clinical neurologist.Spinal muscular atrophy: untangling the knot?Cell-specific survival motor neuron gene expression during human development of the central nervous system: implications for the pathogenesis of spinal muscular atrophy.When is a deletion not a deletion? When it is converted.Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype.A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene.Disruption of SMN function by ectopic expression of the human SMN gene in Drosophila.SMN regulation in SMA and in response to stress: new paradigms and therapeutic possibilities.
P2860
Q22010941-CDFB03AA-F152-4DDB-A239-81540C5AD04CQ24539804-DE19DF8E-1C9E-40ED-BD7B-893E30DFF109Q24600623-D92750C6-AB32-43BE-A109-0C4B3B5643DAQ24651106-69697597-C0E8-4B3E-91E7-073BEFC71F0DQ28115292-A2091B7A-2F84-47F0-A2AE-2E50549B3097Q28274685-E5F88CC3-5DE5-43A6-BEE4-7D8AB7C2A63FQ29013847-B5085620-916A-4540-8C42-21964E6CA65BQ29617367-F7F22C3E-AC39-4DA6-B53E-E4489F4B80E7Q30443030-F705A764-44F3-4579-A76E-E55CFCD129F4Q30486481-81A0E66C-71D1-4607-91DA-FD56421C5E3DQ31096071-BD2D84DC-AF82-4D30-BCFD-5936712E1BC8Q33785933-0A0F6AAD-6337-4734-B751-7D05FC4D0E88Q33905442-F2458BDA-7E5C-4DD8-A7E7-E1A62DEE5801Q34051166-8CF9309E-FE95-4D13-B5BC-E8212F12ABD6Q34386159-3B240B2A-1525-4ACE-B748-04BE2D23BB02Q34389556-5B045A01-9071-40BF-8FEB-8ACB2F9EC2A0Q34443974-C97AD7C1-63F0-4840-A0CF-F9ECB912A33BQ34546169-6BEE6A05-B21A-49CA-9F68-F55525CA0FD5Q34737033-96D228BB-954F-4961-B1C6-27F83A73C08AQ34760255-ECD8CC0B-C2E5-4371-AA26-431DD433F651Q35167319-660E33B9-4690-4953-82A7-5CA32DF87415Q35250646-2233B1C1-77C1-40E6-9832-4DDB3ACBF86BQ35567374-255F83EC-987D-49F6-8702-428F1B58F377Q35623349-A1E6EEF3-9505-4747-AA16-1E38E85B177FQ35641208-27863FC2-BB40-4708-9D10-834207590265Q36323111-838C88ED-2D67-46A0-AAC3-386D35976627Q37342966-93EBE90A-35F6-44A1-9845-F6B066A6EC7DQ39337972-692E3D5B-255D-4E90-87AD-7E07E5FF2BA5Q41735698-77A42BA4-29A2-4D2B-B4A3-DDB6E0C087FEQ42057739-AC750CD7-3D03-464E-81BC-8DB8CA1BBF0BQ42850962-EE7BB272-3CEF-446D-B21E-2AC851A11076Q43105061-7EB81B1B-6EA5-414E-A752-8EF8377A82BAQ43105089-F30934EB-8B84-437C-953F-79C77279205BQ44519563-07933C61-11C6-44CD-A878-AC8D8990A1DEQ47808364-BD6699B8-9B42-48AE-8FA4-F1CCA2E6A843Q47885235-6167F6C1-7BC5-455E-98F0-20A1C96902BE
P2860
Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?
description
1997 nî lūn-bûn
@nan
1997 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի մարտին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Missense mutation clustering i ...... the protein in RNA metabolism?
@ast
Missense mutation clustering i ...... the protein in RNA metabolism?
@en
Missense mutation clustering i ...... the protein in RNA metabolism?
@nl
type
label
Missense mutation clustering i ...... the protein in RNA metabolism?
@ast
Missense mutation clustering i ...... the protein in RNA metabolism?
@en
Missense mutation clustering i ...... the protein in RNA metabolism?
@nl
prefLabel
Missense mutation clustering i ...... the protein in RNA metabolism?
@ast
Missense mutation clustering i ...... the protein in RNA metabolism?
@en
Missense mutation clustering i ...... the protein in RNA metabolism?
@nl
P2093
P356
P1476
Missense mutation clustering i ...... the protein in RNA metabolism?
@en
P2093
Mountford R
Rodrigues NR
Theodosiou AM
P304
P356
10.1093/HMG/6.3.497
P577
1997-03-01T00:00:00Z