"Silent" nucleotide substitution in a beta+-thalassemia globin gene activates splice site in coding sequence RNA.
about
A 5' splice-region G----C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemiaA silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS).Mechanism for cryptic splice site activation during pre-mRNA splicing.Genomic features defining exonic variants that modulate splicing.The two intervening sequences of human beta- and gamma-globin pre-mRNAs are excised in a preferred temporal order in vitro.Mutations in the conserved loop of human U5 snRNA generate use of novel cryptic 5' splice sites in vivoThe molecular basis of β-thalassemia.Genetic variation in rates of antipyrine metabolite formation: a study in uninduced twinsA beta-thalassemia lesion abolishes the same Mst II site as the sickle mutationBeta-thalassemia resulting from a single nucleotide substitution in an acceptor splice sitebeta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site.A beta-globin gene, inactive in the K562 leukemic cell, functions normally in a heterologous expression systemThe functional relevance of somatic synonymous mutations in melanoma and other cancers.Virus deletion mutants that affect a 3' splice site in the E3 transcription unit of adenovirus 25' Nucleotide sequences influence serum-modulated expression of a human dihydrofolate reductase minigene.The curation of genetic variants: difficulties and possible solutions.The rare codon 24 (T>A) (beta+) mutation in association with the common codon 39 (C> T) (beta0) mutation causes transfusion-dependent beta-thalassemia in a Moroccan patient.Silent beta-thalassemia associated with Hb Knossos beta 27 (B9) Ala replaced by Ser in Algeria.Thalassemic hemoglobinopathies.Mutational Profile of Homozygous β-Thalassemia in Rio de Janeiro, Brazil.Subcellular localization of RNAs in transfected cells: role of sequences at the 5' terminus.Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay.Regulated production of an influenza virus spliced mRNA mediated by virus-specific products.Molecular characterization of seven beta-thalassemia mutations in Asian Indians.Characterization of beta-thalassemia mutations among the Japanese.Jamaican Sbeta+-thalassaemia: mutations and haematology.The beta- and delta-thalassemia repository.Is the poly A (T>C) mutation a causative factor for misdiagnosis in second trimester prenatal diagnosis of β-thalassemia by fetal blood analysis on high performance liquid chromatography?Occurrence of the Codon 24 (A > T) Mutation in the Mauritanian Population.A novel algorithm for identification of activated cryptic 5' splice sites.The ratio of the G gamma and A gamma chains: variations due to anomalies at the molecular level.
P2860
Q24625493-7470B4F2-C76A-4589-9C92-11723348399AQ33680815-7245920F-4BFC-4652-8361-25CAD051E59DQ33746053-23BA0D99-B234-4F3E-A001-E293ED3DF437Q33861632-9C6DE0EA-FDC0-4DFE-8034-71BB0BFC1ECDQ33931615-80BBE1CC-C90E-4506-BBEC-E33A28360C23Q34065235-2DC1A87C-1610-443C-B565-7489FC644A4AQ34342424-EF9676BB-19FD-4B8A-8825-D017E3D8AFFFQ35469675-F49A6D26-83D4-4DC4-8D54-5F7F96D5B864Q35692432-C3798A49-6C27-4DC0-82AF-D2B04BE01420Q36135011-9126C639-6905-4CE2-9CE3-F95E53C430E8Q36249573-BF3090CF-35FA-4600-A4E3-6E3042F2AB8CQ36273088-439DE490-C126-4DA7-ABFD-4DCD07C855EDQ36805023-97DAF575-5483-4902-A210-429BF68BC75EQ36893457-B9016365-C5DE-4C66-9B96-21A5773DAAD9Q36911027-220D94D5-1DBC-4556-B937-0EAB127228D4Q38073929-08D8F2CA-4994-426A-AE78-7DFE01B8DFB2Q38862456-81EBD59D-6AF0-4A96-AE47-9B19D2CAB12AQ39411075-A4B51BF8-AD1B-4F6E-9E56-EB7720D2A262Q40165274-ABD4C0B6-7F32-470B-8F18-E0321411BDCFQ40263525-95301270-5906-41A0-9B2B-48B802239BCAQ40462858-61404B2A-A6BA-4F21-A33E-F0D759C1388FQ40552071-50DE561E-5A58-4D81-B185-229985521E7BQ41414697-D01E6749-F39B-45E7-A457-D6F14C63FF9DQ41565091-6EF00E00-61E9-46F0-8FFE-E5004CEB229CQ44193496-7900B827-DC06-45A6-9FF1-270741738D00Q44512011-54DD0983-5CAB-4544-BED5-7165C4D97774Q44534771-3729033A-20BF-4670-94F4-9ADC11DBBA59Q46152100-768A21AD-E5CF-44DF-AB25-E18963284696Q46183210-5C73E242-EB2A-4091-A199-255E03D3A4B1Q51433900-C7DA034A-3E79-4B9E-A325-A8DF7B112A97Q53906133-93CF8453-29C6-4C42-910B-892645F432A5
P2860
"Silent" nucleotide substitution in a beta+-thalassemia globin gene activates splice site in coding sequence RNA.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on April 1983
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
"Silent" nucleotide substituti ...... e site in coding sequence RNA.
@en
"Silent" nucleotide substituti ...... e site in coding sequence RNA.
@nl
type
label
"Silent" nucleotide substituti ...... e site in coding sequence RNA.
@en
"Silent" nucleotide substituti ...... e site in coding sequence RNA.
@nl
prefLabel
"Silent" nucleotide substituti ...... e site in coding sequence RNA.
@en
"Silent" nucleotide substituti ...... e site in coding sequence RNA.
@nl
P2093
P2860
P356
P1476
"Silent" nucleotide substituti ...... e site in coding sequence RNA.
@en
P2093
P2860
P304
P356
10.1073/PNAS.80.8.2318
P407
P577
1983-04-01T00:00:00Z