The SR protein SC35 is responsible for aberrant splicing of the E1alpha pyruvate dehydrogenase mRNA in a case of mental retardation with lactic acidosis.
about
Dissection of epistasis in oligogenic Bardet-Biedl syndromeGeneral and specific functions of exonic splicing silencers in splicing controlDistribution of SR protein exonic splicing enhancer motifs in human protein-coding genes.Asyn-anticonformational difference allows SRSF2 to recognize guanines and cytosines equally wellPIN1 gene variants in Alzheimer's disease.SIRT1 undergoes alternative splicing in a novel auto-regulatory loop with p53.Selective modification of alternative splicing by indole derivatives that target serine-arginine-rich protein splicing factors.A SNP in intron 8 of CD46 causes a novel transcript associated with mastitis in HolsteinsShuttling SR proteins: more than splicing factors.Cryptic splice site usage in exon 7 of the human fibrinogen Bbeta-chain gene is regulated by a naturally silent SF2/ASF binding site within this exonThe RNAissance family: SR proteins as multifaceted regulators of gene expressionInterpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.Human Papillomavirus 16 Oncoprotein Expression Is Controlled by the Cellular Splicing Factor SRSF2 (SC35).Alternative Splicing of a Novel Inducible Exon Diversifies the CASK Guanylate Kinase Domain.Alternative splicing and RNA selection pressure--evolutionary consequences for eukaryotic genomes.Defective splicing, disease and therapy: searching for master checkpoints in exon definition.Pick one, but be quick: 5' splice sites and the problems of too many choices.Multifactorial interplay controls the splicing profile of Alu-derived exonsNovel mutations in calcium/calmodulin-dependent protein kinase IV (CAMK4) gene in infertile men.Succession of splicing regulatory elements determines cryptic 5΄ss functionality.Common variants in genes of the postsynaptic FMRP signalling pathway are risk factors for autism spectrum disorders.A role for SC35 and hnRNPA1 in the determination of amyloid precursor protein isoforms.Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene.Cryptic splicing sites are differentially utilized in vivo.The exon 29 c.3535A>T in the alpha-2-macroglobulin gene causing aberrant splice variants is associated with mastitis in dairy cattle.An RNA Splicing Enhancer that Does Not Act by Looping
P2860
Q24297989-FA546E60-EAE6-4681-B869-0AABF6F09AF3Q24673220-CEA9F8DC-078E-4701-A747-AB34D166128DQ24812666-9221EFC7-B612-4835-9A95-EB953185D7E0Q27675089-B1A74327-9363-406C-914B-F7F00EE48ED1Q30883650-F1E6824C-625B-4958-9D7E-491A00937E1AQ33727892-934FA207-042C-494E-8DA7-C1D662EC8285Q33853846-7EA12E85-CC80-434A-8F98-05FB2189703DQ34012066-E8AA34D7-4669-4983-A1CE-67A753F07FA6Q34203982-CC602D5A-0019-4D5D-A80C-33374E305CE8Q34625741-A7C5C1E2-4A14-4CB5-AAFF-5A59C53F77B1Q34717851-1D66CE92-094A-439B-8970-62D8156D82CAQ35086962-ED8B739E-8149-4FD7-AAF6-1D1AE8C1B76DQ35641431-A66939C1-F71C-4FA6-A078-032D5164A833Q36248511-30A5E3F5-5FE7-4942-93C1-04847369D6D0Q36504877-08CD04C0-0610-48A4-840C-F8CCBD1E2356Q36541361-F58EB6F7-3255-433C-8C16-19AA0BB0A9AAQ38076663-AF97CBD4-077C-4C7C-9B9A-BFCB530A2EBCQ38292802-F2FFBBF0-456F-4EEE-8076-1FC0467B856AQ38322581-3FFC1296-1942-4EF6-A3CB-8677DA663CDEQ39048716-0CBADD50-61A4-464A-82D4-88C347DAF6EEQ39268882-52982A00-333B-4D59-8D78-07C6D297C290Q40160117-1261A3CE-0A4B-4631-B8DC-229D70210222Q41936967-BA530DA4-1CA6-4CF6-B913-0D98A06398C0Q42645159-CCF380CE-5CB4-4663-9C62-FF7BE60D7292Q54295137-32764C90-688B-4AFA-A407-8B4982E63752Q58830805-840D1188-8D73-4C38-BE6A-CE43BB5A7351
P2860
The SR protein SC35 is responsible for aberrant splicing of the E1alpha pyruvate dehydrogenase mRNA in a case of mental retardation with lactic acidosis.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
2005年论文
@zh
2005年论文
@zh-cn
name
The SR protein SC35 is respons ...... ardation with lactic acidosis.
@en
The SR protein SC35 is respons ...... ardation with lactic acidosis.
@nl
type
label
The SR protein SC35 is respons ...... ardation with lactic acidosis.
@en
The SR protein SC35 is respons ...... ardation with lactic acidosis.
@nl
prefLabel
The SR protein SC35 is respons ...... ardation with lactic acidosis.
@en
The SR protein SC35 is respons ...... ardation with lactic acidosis.
@nl
P2093
P2860
P50
P1476
The SR protein SC35 is respons ...... ardation with lactic acidosis.
@en
P2093
Cécile Marsac
Johann Soret
Michèle Brivet
P2860
P304
P356
10.1128/MCB.25.8.3286-3294.2005
P407
P577
2005-04-01T00:00:00Z