Genotype-phenotype relationships in ataxia-telangiectasia and variants.
about
Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34Molecular pathology of ataxia telangiectasiaPathogenesis of ataxia-telangiectasia: the next generation of ATM functionsAtaxia telangiectasia: a reviewCarboxyl-terminal region conserved among phosphoinositide-kinase-related kinases is indispensable for mTOR function in vivo and in vitroNovel mutations and defective protein kinase C activation of T-lymphocytes in ataxia telangiectasiaEvolutionary genomics of human intellectual disabilityFunctional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.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.Autosomal recessive cerebellar ataxias.Novel mutations in ataxia telangiectasia and AOA2 associated with prolonged survivalSingle nucleotide polymorphism in ATM gene, cooking oil fumes and lung adenocarcinoma susceptibility in Chinese female non-smokers: a case-control study.Ataxia-telangiectasia, cancer and the pathobiology of the ATM gene.Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case reportPast, present and future therapeutics for cerebellar ataxias.Immunodeficiency associated with DNA repair defects.New mutations in the ATM gene and clinical data of 25 AT patients.ATM-heterozygous germline mutations contribute to breast cancer-susceptibilityA randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia.Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.ATM activation in the presence of oxidative stress.Abnormal development of Purkinje cells and lymphocytes in Atm mutant micePharmacogenomics and breast cancer.Correction of prototypic ATM splicing mutations and aberrant ATM function with antisense morpholino oligonucleotides.All stressed out without ATM kinaseDisease severity in a mouse model of ataxia telangiectasia is modulated by the DNA damage checkpoint gene Hus1Requirement of the FATC domain of protein kinase Tel1 for localization to DNA ends and target protein recognitionMolecular basis of ataxia telangiectasia and related diseases.ATM protein and p53-serine 15 phosphorylation in ataxia-telangiectasia (AT) patients and at heterozygotes.Identification of ATM mutations in Korean siblings with ataxia-telangiectasiaRecent advances in genetics of choreaImmunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene.Microcephalin regulates BRCA2 and Rad51-associated DNA double-strand break repair.Therapeutic potential of splice-switching oligonucleotides.Nonaminoglycoside compounds induce readthrough of nonsense mutations.Ataxia-telangiectasia - A historical review and a proposal for a new designation: ATM syndrome.The ATM protein kinase and cellular redox signaling: beyond the DNA damage response.ATM-deficient human neural stem cells as an in vitro model system to study neurodegeneration.Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO).Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays.
P2860
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P2860
Genotype-phenotype relationships in ataxia-telangiectasia and variants.
description
1998 nî lūn-bûn
@nan
1998 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի մարտին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Genotype-phenotype relationships in ataxia-telangiectasia and variants.
@ast
Genotype-phenotype relationships in ataxia-telangiectasia and variants.
@en
Genotype-phenotype relationships in ataxia-telangiectasia and variants.
@nl
type
label
Genotype-phenotype relationships in ataxia-telangiectasia and variants.
@ast
Genotype-phenotype relationships in ataxia-telangiectasia and variants.
@en
Genotype-phenotype relationships in ataxia-telangiectasia and variants.
@nl
prefLabel
Genotype-phenotype relationships in ataxia-telangiectasia and variants.
@ast
Genotype-phenotype relationships in ataxia-telangiectasia and variants.
@en
Genotype-phenotype relationships in ataxia-telangiectasia and variants.
@nl
P2093
P2860
P356
P1476
Genotype-phenotype relationships in ataxia-telangiectasia and variants
@en
P2093
A Bar-Shira
R Khosravi
T J Jorgensen
P2860
P304
P356
10.1086/301755
P407
P577
1998-03-01T00:00:00Z