Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.
about
Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution.Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing proteinSplicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcriptsAberrant caspase-activated DNase (CAD) transcripts in human hepatoma cellsMolecular pathology of ataxia telangiectasiaSplicing in action: assessing disease causing sequence changesAntisense-mediated exon skipping: a versatile tool with therapeutic and research applicationsRare mutations predisposing to familial adenomatous polyposis in Greek FAP patientsFunctional studies on the ATM intronic splicing processing elementBiased exon/intron distribution of cryptic and de novo 3' splice sitesProgress toward therapy with antisense-mediated splicing modulationAtaxia telangiectasia presenting as dopa-responsive cervical dystonia.A novel mouse model for ataxia-telangiectasia with a N-terminal mutation displays a behavioral defect and a low incidence of lymphoma but no increased oxidative burden.Single nucleotide polymorphism in ATM gene, cooking oil fumes and lung adenocarcinoma susceptibility in Chinese female non-smokers: a case-control study.Prediction and assessment of splicing alterations: implications for clinical testing.A synonymous mutation in the CFTR gene causes aberrant splicing in an italian patient affected by a mild form of cystic fibrosis.Genomic features defining exonic variants that modulate splicing.Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutationsAre splicing mutations the most frequent cause of hereditary disease?The dual effect of the lupus-associated polymorphism rs10516487 on BANK1 gene expression and protein localization.Low levels of ATM in breast cancer patients with clinical radiosensitivity.New mutations in the ATM gene and clinical data of 25 AT patients.Allele-specific recognition of the 3' splice site of INS intron 1ATM-heterozygous germline mutations contribute to breast cancer-susceptibilityA unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.Genetic suppression of intronic +1G mutations by compensatory U1 snRNA changes in Caenorhabditis elegans.Norepinephrine deficiency is caused by combined abnormal mRNA processing and defective protein trafficking of dopamine beta-hydroxylase.Synaptic signaling and aberrant RNA splicing in autism spectrum disordersUntangling the phenotypic heterogeneity of Diamond Blackfan anemia.Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping.Ten new ATM alterations in Polish patients with ataxia-telangiectasia.Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.Pharmacogenomics and breast cancer.Syndromic immunodeficiencies: genetic syndromes associated with immune abnormalities.ATM gene alterations in chronic lymphocytic leukemia patients induce a distinct gene expression profile and predict disease progressionFunctional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.Correction of prototypic ATM splicing mutations and aberrant ATM function with antisense morpholino oligonucleotides.Genomic variants in exons and introns: identifying the splicing spoilers.A novel long-range PCR sequencing method for genetic analysis of the entire PKD1 gene.Functional analysis of synonymous substitutions predicted to affect splicing of the CFTR gene.
P2860
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P2860
Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.
description
1999 nî lūn-bûn
@nan
1999 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Splicing defects in the ataxia ...... ng mutations and consequences.
@ast
Splicing defects in the ataxia ...... ng mutations and consequences.
@en
Splicing defects in the ataxia ...... ng mutations and consequences.
@nl
type
label
Splicing defects in the ataxia ...... ng mutations and consequences.
@ast
Splicing defects in the ataxia ...... ng mutations and consequences.
@en
Splicing defects in the ataxia ...... ng mutations and consequences.
@nl
prefLabel
Splicing defects in the ataxia ...... ng mutations and consequences.
@ast
Splicing defects in the ataxia ...... ng mutations and consequences.
@en
Splicing defects in the ataxia ...... ng mutations and consequences.
@nl
P2093
P2860
P356
P1476
Splicing defects in the ataxia ...... ng mutations and consequences.
@en
P2093
S Becker-Catania
S N Teraoka
P2860
P304
P356
10.1086/302418
P407
P577
1999-06-01T00:00:00Z