Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene
about
The human splicing factors ASF/SF2 and SC35 possess distinct, functionally significant RNA binding specificitiesDiverse mutations in patients with Menkes disease often lead to exon skippingA C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome familyBiased exon/intron distribution of cryptic and de novo 3' splice sitesDecoding mechanisms by which silent codon changes influence protein biogenesis and functionMolecular analysis of acid ceramidase deficiency in patients with Farber diseaseDirect selection for mutations affecting specific splice sites in a hamster dihydrofolate reductase minigeneMolecular genetic dissection of mouse unconventional myosin-VA: tail region mutationsIdentification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromesPresence of negative and positive cis-acting RNA splicing elements within and flanking the first tat coding exon of human immunodeficiency virus type 1Splicing mutants and their second-site suppressors at the dihydrofolate reductase locus in Chinese hamster ovary cellsNucleotide frequency variation across human genes.Frame-disrupting mutations elicit pre-mRNA accumulation independently of frame disruptionGenomic features defining exonic variants that modulate splicing.Identification of a novel exonic mutation at -13 from 5' splice site causing exon skipping in a girl with mitochondrial acetoacetyl-coenzyme A thiolase deficiencyModulation of in vitro splicing of the upstream intron by modifying an intra-exon sequence which is deleted from the dystrophin gene in dystrophin Kobe.A novel mobile element inserted in the alpha spectrin gene: spectrin dayton. A truncated alpha spectrin associated with hereditary elliptocytosis.Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.Regulation of alternative RNA splicing by exon definition and exon sequences in viral and mammalian gene expressionCharacterization of in vivo somatic mutations at the hypoxanthine phosphoribosyltransferase gene of a human control population.The regulation of splice-site selection, and its role in human diseaseMutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.Selection of the bovine papillomavirus type 1 nucleotide 3225 3' splice site is regulated through an exonic splicing enhancer and its juxtaposed exonic splicing suppressorMechanisms of oncogenesis in patients with familial retinoblastoma.Functional copies of a human gene can be directly isolated by transformation-associated recombination cloning with a small 3' end target sequence.Polypurine sequences within a downstream exon function as a splicing enhancer.Large exon size does not limit splicing in vivoNonsense but not missense mutations can decrease the abundance of nuclear mRNA for the mouse major urinary protein, while both types of mutations can facilitate exon skipping.The cardiac troponin T alternative exon contains a novel purine-rich positive splicing elementMolecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity.Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection.Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy.Aberrant 3' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene.Molecular and biochemical characterization of xrs mutants defective in Ku80.A sequence compilation and comparison of exons that are alternatively spliced in neuronsAberrant HS1 molecule in a patient with systemic lupus erythematosus.Role of mammalian RAD51L2 (RAD51C) in recombination and genetic stability.Purine-rich enhancers function in the AT-AC pre-mRNA splicing pathway and do so independently of intact U1 snRNP.Acute intermittent porphyria caused by defective splicing of porphobilinogen deaminase RNA: a synonymous codon mutation at -22 bp from the 5' splice site causes skipping of exon 3.
P2860
Q24598907-EA27351F-FB56-4E78-AE66-C97832D171C7Q24672720-1A9B3E41-6E23-4215-B28F-B1EB4B0AB76DQ24678781-8792DDD6-3E96-4D86-A168-B7B99DAFC44BQ24817064-637DD486-854D-4635-82FD-18455F84179CQ26821951-71CC6E1B-FE0E-462F-B006-DCCCF660C370Q28204074-6371AF06-F8FC-4B87-B36C-6E321202D94CQ28378652-A6975418-5195-4014-A3C3-8A5A22B62E2CQ28507012-C2B5D494-DF72-4615-9AEA-7D4436FF885EQ28609285-C9717F8D-29FD-4C1B-81C3-D21F3AFCB64BQ30450216-A4F00208-A3AD-456D-AFB7-6CAEF6BA61D6Q30450263-6DC27020-E92A-40B7-A176-DF3D1333513DQ33683753-94D76258-A8D0-4F46-8592-C0B488EECBD7Q33719359-A8F647EE-5F64-4352-B6C8-EE2EFBD87617Q33861632-F11877F3-EA00-4431-83D1-D81190917AF4Q34131561-08AC5A89-9603-4656-8F9A-E7D7EF01FF55Q34199543-7E30F8EF-9C0E-46CE-BF6B-C223C86D7637Q34228966-817DE9AA-4EBC-482E-AE5E-33D1783C620AQ34389747-969A4A1E-25AB-4B23-A1A1-2E0902101FE4Q34546893-10C30946-19C7-426C-A8A6-2B52AEBFABB0Q34844726-4D3DBFA4-576C-46DF-B608-47743F7D60B8Q35249099-77114F20-26D8-40C8-B806-7E40F7097202Q35643208-F03A964E-2537-4E50-A5E2-D4C3CF6E7601Q35864749-A9B824BB-33FB-4FFC-B6C2-1A746CE74C0FQ35977782-AE744068-7224-4817-80C0-28DCE7F4227EQ36475196-2C9D3AEC-85E4-4D04-833D-A6E057B35A86Q36646770-96ED649E-246D-4AAD-9F6A-602F4419C64DQ36648912-7DDB43FC-F7B0-4299-8301-C18B96B7B1A6Q36666083-9E597A55-6C04-43B1-A77A-A805142C5D55Q36686833-9DE9363A-9909-4935-B9C6-29671991D8AEQ37358027-2972337D-4D26-45A1-AE66-45833BF1348AQ37360713-15C9344D-A912-4D93-966C-FDAA2EB21E90Q37374213-94C77F71-E18A-4E7A-AE9D-8F61CD122DECQ39113625-415EDAFE-D3E2-4EF1-BBF3-EC40B6F39F5EQ39812803-9ADE8780-F6AC-49F9-8F3B-5B5DAD9C9F73Q40021061-75A6E5D0-FAA3-437E-80EE-A3199536826BQ40399515-DD146202-DF05-43B8-975E-CB1E3DA39B3DQ40666395-87DCD5E4-8BFA-45E7-A32D-804330F4037AQ40742586-8C056BB7-8E23-4F2A-861D-2BD9990C25C2Q41886845-A7B2BAD3-1631-4777-A651-7C657241CF80Q42082379-47DB3DE5-EAF5-4DDF-8C7B-9E1E8BEBE68D
P2860
Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene
description
1992 nî lūn-bûn
@nan
1992 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի մարտին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Mutations which alter splicing ...... phosphoribosyltransferase gene
@ast
Mutations which alter splicing ...... phosphoribosyltransferase gene
@en
type
label
Mutations which alter splicing ...... phosphoribosyltransferase gene
@ast
Mutations which alter splicing ...... phosphoribosyltransferase gene
@en
prefLabel
Mutations which alter splicing ...... phosphoribosyltransferase gene
@ast
Mutations which alter splicing ...... phosphoribosyltransferase gene
@en
P2093
P2860
P356
P1476
Mutations which alter splicing ...... phosphoribosyltransferase gene
@en
P2093
Lehmann AR
Steingrimsdottir H
P2860
P304
P356
10.1093/NAR/20.6.1201
P407
P577
1992-03-01T00:00:00Z