以"Nijmegen breakage syndrome-like disorder"为检索词,检索Web of Science及PubMed,共检索到4篇9例有关Nijmegen断裂综合征样病的报道,其中2例为Rad50基因突变,2例为MRE11基因突变,5例为NHEJ1基因突变[ 2 , 3 , 4 , 5 ]。 展开阅读 文献性别诊断年龄突变基因突变位点面部畸形小头畸形反复感染肿瘤国籍 宋...
We report on pediatric patient with Nijmegen breakage syndrome (NBS), a rare DNA repair disorder characterized by microcephaly, immunodeficiency and predisposition to malignant lymphomas, who developed juvenile idiopathic arthritis (JIA)-like polyarthritis. In patients with primary immunodeficiencies (PID)...
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, combined immunodeficiency and predisposition to malignancies. Due to a founder mutation in the underlyingNBNgene (c.657_661del5) the disease is encountered mos...
1.The MRN complex constitutes of MRE11,NBS1 and RAD50,and the deficiency of MRE11 and NBS1 caused disorder named ataxia-telangiectasia-like disease(ATLD) and Nijmegen breakage syndrome(NBS),respectively.MRN复合物包括MRE11、NBS1、RAD50,此复合物中的MRE11或NBS1缺失或突变会导致人的共济失调-毛细...
repair mechanisms leads to genome instability disorders, like ataxia telangiectasia (A-T), A-T-like disorder (ATLD) and Nijmegen breakage syndrome (NBS)... K Czornak,S Chughtai,KH Chrzanowska - 《Journal of Applied Genetics》 被引量: 169发表: 2008年 DNA Repair by the MRN Complex: Break...
Human RAD50 Deficiency in a Nijmegen Breakage Syndrome-like Disorder These cells were also impaired in G1/S cell-cycle-checkpoint activation and displayed radioresistant DNA synthesis and G2-phase accumulation. The defective... Regina Waltes and Reinhard Kalb and Magtouf Gatei and Amanda W. ...
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, combined immunodeficiency and predisposition to malignancies. Due to a founder mutation in the underlying NB
NBS‐likeNijmegen breakage syndromeNijmegen breakage syndrome (NBS) is a rare, autosomal-recessive chromosome instability disorder characterized by growth and developmental defects, immunodeficiency, high susceptibility to lymphoid malignancies, hypersensitivity to ionizing radiation and aberrant cell-cycle ...
Nijmegen Breakage syndromeNBS1 genenibrinNijmegen Breakage syndrome is a rare, autosomal recessive disorder characterized by severe, combined immunodeficiency, recurrent sinopulmonary infections, chromosomal instability, radiosensitivity, predisposition to malignancy, a "bird-like" facial appearance, progressive ...
A new chromosomal instability disorder: the Nijmegen Breakage Syndrome. Acta Paediatr Scand 1981;70:557-64.A new chromosomal instability disorder: the Nijmegen breakage syndrome. Weemaes,CMR,Hustinx,TWJ,Scheres,JMJC,Van,Munster,PJJ,Bakkeren,JAJM,Taalman,RDFM. Acta Paediatrica Scandinavica . 1981...