A new chromosomal instability disorder: the Nijmegen breakage syndrome
about
Nijmegen breakage syndrome (NBS)Chk2 activation dependence on Nbs1 after DNA damageForkhead-associated domain of yeast Xrs2, a homolog of human Nbs1, promotes nonhomologous end joining through interaction with a ligase IV partner protein, Lif1Neurology and the skin.Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study GroupThe molecular pathology of primary immunodeficienciesPhenotypes and genotypes of the chromosomal instability syndromesFunctional Role of NBS1 in Radiation Damage Response and Translesion DNA SynthesisChemotherapeutic compounds targeting the DNA double-strand break repair pathways: the good, the bad, and the promisingStructure of a Second BRCT Domain Identified in the Nijmegen Breakage Syndrome Protein Nbs1 and its Function in an MDC1-Dependent Localization of Nbs1 to DNA Damage SitesInteraction of FANCD2 and NBS1 in the DNA damage responseNBN phosphorylation regulates the accumulation of MRN and ATM at sites of DNA double-strand breaksVariant forms of ataxia telangiectasia.Nijmegen breakage syndrome.Ovarian differentiation and gonadal failure.Positional cloning and functional analysis of the gene responsible for Nijmegen breakage syndrome, NBS1.Immunodeficiency associated with DNA repair defects.Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder haplotype.Educational paper: syndromic forms of primary immunodeficiencySevere microcephaly with normal intellectual development: the Nijmegen breakage syndromeNijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs)ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome.T-lymphocytes with 7;14 translocations: frequency of occurrence, breakpoints, and clinical and biological significance.Patients with an inherited syndrome characterized by immunodeficiency, microcephaly, and chromosomal instability: genetic relationship to ataxia telangiectasia.Genetic variation in the NBS1 gene is associated with hepatic cancer risk in a Chinese population.NBS1 and multiple regulations of DNA damage response.Occupational solvent exposure, genetic variation of DNA repair genes, and the risk of non-Hodgkin's lymphoma.Identification of a novel NBN truncating mutation in a family with hereditary prostate cancerNijmegen breakage syndrome cells fail to induce the p53-mediated DNA damage response following exposure to ionizing radiationThe involvement of DNA-damage and -repair defects in neurological dysfunctionPrevalence of Café-au-Lait Spots in children with solid tumors.Atypical strain of Toxoplasma gondii causing fatal reactivation after hematopoietic stem cell transplantion in a patient with an underlying immunological deficiency.Genetic predispositions to childhood leukemia.DNA strand breaks, neurodegeneration and aging in the brain.NBS1 Heterozygosity and Cancer Risk.Nijmegen breakage syndrome and chronic polyarthritis.DNA repair deficiency and neurological disease.NBN Gene Polymorphisms and Cancer Susceptibility: A Systemic Review.Cellular radiosensitivity: how much better do we understand it?Primary immunodeficiencies associated with DNA-repair disorders.
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P2860
A new chromosomal instability disorder: the Nijmegen breakage syndrome
description
1981 nî lūn-bûn
@nan
1981 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1981 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1981年の論文
@ja
1981年論文
@yue
1981年論文
@zh-hant
1981年論文
@zh-hk
1981年論文
@zh-mo
1981年論文
@zh-tw
1981年论文
@wuu
name
A new chromosomal instability disorder: the Nijmegen breakage syndrome
@ast
A new chromosomal instability disorder: the Nijmegen breakage syndrome
@en
A new chromosomal instability disorder: the Nijmegen breakage syndrome
@nl
type
label
A new chromosomal instability disorder: the Nijmegen breakage syndrome
@ast
A new chromosomal instability disorder: the Nijmegen breakage syndrome
@en
A new chromosomal instability disorder: the Nijmegen breakage syndrome
@nl
prefLabel
A new chromosomal instability disorder: the Nijmegen breakage syndrome
@ast
A new chromosomal instability disorder: the Nijmegen breakage syndrome
@en
A new chromosomal instability disorder: the Nijmegen breakage syndrome
@nl
P2093
P2860
P3181
P1476
A new chromosomal instability disorder: the Nijmegen breakage syndrome
@en
P2093
C M Weemaes
J A Bakkeren
J M Scheres
P J van Munster
R D Taalman
T W Hustinx
P2860
P304
P3181
P356
10.1111/J.1651-2227.1981.TB05740.X
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P577
1981-07-01T00:00:00Z