Translation to near the distal end of the penultimate exon is required for normal levels of spliced triosephosphate isomerase mRNA.
about
COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome IIMutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosaSuccinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patientp68 RNA helicase: identification of a nucleolar form and cloning of related genes containing a conserved intron in yeastsPRB3 null mutations result in absence of the proline-rich glycoprotein Gl and abolish Fusobacterium nucleatum interactions with saliva in vitroHuman triosephosphate isomerase deficiency resulting from mutation of Phe-240PRBI gene variants coding for length and null polymorphisms among human salivary Ps, PmF, PmS, and Pe proline-rich proteins (PRPs)Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenesThe molecular basis of HEXA mRNA deficiency caused by the most common Tay-Sachs disease mutationCompound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentitionThe mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codonA GFP-based reporter system to monitor nonsense-mediated mRNA decayThe majority of yeast UPF1 co-localizes with polyribosomes in the cytoplasm.The protein family of RNA helicasesE210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosaA mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humansOccipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locusmRNA stability in mammalian cellsAt least one intron is required for the nonsense-mediated decay of triosephosphate isomerase mRNA: a possible link between nuclear splicing and cytoplasmic translation.Nuclear history of a pre-mRNA determines the translational activity of cytoplasmic mRNA.Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta.Analysis of autoregulation at the level of pre-mRNA splicing of the suppressor-of-white-apricot gene in DrosophilaThe Y14 protein communicates to the cytoplasm the position of exon-exon junctionsT-cell receptor sequences that elicit strong down-regulation of premature termination codon-bearing transcripts.Identification of a novel exonic mutation at -13 from 5' splice site causing exon skipping in a girl with mitochondrial acetoacetyl-coenzyme A thiolase deficiencyExpression of a mutant human fibrillin allele upon a normal human or murine genetic background recapitulates a Marfan cellular phenotype.Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis.Identification of two novel mutations in non-Jewish factor XI deficiency.Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations.Intron function in the nonsense-mediated decay of beta-globin mRNA: indications that pre-mRNA splicing in the nucleus can influence mRNA translation in the cytoplasm.Nonsense-containing mRNAs that accumulate in the absence of a functional nonsense-mediated mRNA decay pathway are destabilized rapidly upon its restitutionWhen cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.Constant splice-isoform ratios in human lymphoblastoid cells support the concept of a splico-statMolecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area.The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland.Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic ampliconsPremature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strainsA compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.A splicing-dependent regulatory mechanism that detects translation signals.Evidence to implicate translation by ribosomes in the mechanism by which nonsense codons reduce the nuclear level of human triosephosphate isomerase mRNA.
P2860
Q24291045-FDE8B7D4-CE07-4A85-B61C-8A0D9C8FFC59Q24308020-76EEEE46-97B2-4EB4-85DB-409089483C7DQ24315007-B2AC3547-17F2-4500-9675-C8E22CE8C519Q24335997-A143E99D-8112-4B9D-A253-2B1471230EE3Q24657462-04E3E0B2-1329-4785-890C-46B3846D59A5Q24671223-5FDEA130-CDFA-45B5-BC17-DD690F05BB36Q24671654-A6EB57EF-83D5-46CF-BB4D-DCF17FC3D3A0Q24671806-98204D12-56BD-4D17-9ACF-40A20A09AA1FQ24673000-C814E9E0-BF48-4EB3-AB29-3497B217C4DFQ24675846-EB54F025-2C75-43A9-A032-8DB61B4D82A8Q24680298-43A140D0-70D4-4B46-868F-DB2B77FB3D3EQ24805903-478A76DA-2396-4819-8070-1B49269BF510Q27938663-7CF08B3F-BD0A-4748-97EE-EF8002A4C080Q28283208-3C3FE518-E079-4A34-97C6-D197AE615925Q28285044-4A9F9E0F-16F5-4759-A869-305E571F8B7CQ28287958-940D33C0-AEB6-4E61-8A39-FFB879E63113Q28306597-3E1C7A08-2EC0-4CCB-923D-93F88C3540ACQ29616374-4B044F22-6E76-4FAA-8177-157D56EC2826Q33778146-F7CF0908-41FD-4468-A1BE-36C87562741CQ33888637-40E3FD6F-B41C-4BBA-A322-B56A6F6DD7F1Q33905897-D87DBE08-B76C-4EB7-AEEC-95E662426CFBQ33962851-42FDC780-5E95-4451-BBC3-9CEB600C6FE7Q34077558-650CB754-6474-41B4-B71B-DDA8DDC9BFDAQ34085459-AA0E17CB-BE9A-439B-B3F3-46A61D0FC71EQ34131561-2367D4A9-92D8-4D50-9583-813AFDC2D5A8Q34203531-D6B55651-E5EE-4323-B5D5-DBE9F4CBA645Q34213495-069E730D-E26A-42C0-BFC3-03610CEAA95FQ34304901-1228AD4F-4BE8-44ED-873C-2A280384D4FEQ34324968-73E72C86-F372-49C8-8B28-118AADE7EAFAQ34361461-3870A7ED-893F-40F7-AB19-762A04418437Q34463425-0A2CDB70-9C4E-42BE-97E4-DE574F0E9471Q34693550-AC224E75-6A11-465E-ABDE-92D0F71B21D3Q34714948-74BAF9C4-BD13-4F20-8981-D77192869340Q35194898-C32EF83B-B46A-4CD0-B3D7-502A175698E6Q35604030-C747244C-4BF8-47B6-AB45-A06524DECB5FQ35643503-EBA55378-1F9D-4576-A729-BACE638F5553Q35882074-5DEC43C4-F934-4C6E-B5E5-565A45F12912Q35889756-AE6D2052-3FAF-47CB-A822-E53CB24A6A06Q35913215-8BC0FE9D-E938-46D5-9C3F-2522DCB4F36AQ36056866-4DBD2456-F858-42E5-A4FB-37A171F9B6CA
P2860
Translation to near the distal end of the penultimate exon is required for normal levels of spliced triosephosphate isomerase mRNA.
description
1990 nî lūn-bûn
@nan
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
1990年论文
@zh
1990年论文
@zh-cn
name
Translation to near the distal ...... riosephosphate isomerase mRNA.
@ast
Translation to near the distal ...... riosephosphate isomerase mRNA.
@en
type
label
Translation to near the distal ...... riosephosphate isomerase mRNA.
@ast
Translation to near the distal ...... riosephosphate isomerase mRNA.
@en
prefLabel
Translation to near the distal ...... riosephosphate isomerase mRNA.
@ast
Translation to near the distal ...... riosephosphate isomerase mRNA.
@en
P2093
P2860
P356
P1476
Translation to near the distal ...... riosephosphate isomerase mRNA.
@en
P2093
L E Maquat
M Fogel-Petrovic
P2860
P304
P356
10.1128/MCB.10.10.5215
P407
P577
1990-10-01T00:00:00Z