Ataxia–telangiectasia-like disorder (ATLDNijmegen breakage syndrome-like disorder (NBSLDATMMRE11NBS1MicrocephalyMRE11 and NBS1 function together as components of a MRE11/RAD50/NBS1 protein complex, however deficiency of either protein does not result in the same clinical features. Mutations in the...
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
Hypomorphic mutations in NBN (previously known as NBS1) and MRE11A give rise to the autosomal-recessive diseases Nijmegen breakage syndrome (NBS) and ataxia-telangiectasia-like disorder (ATLD), respectively. To date, no disease due to RAD50 deficiency has been described. Here, we report on a...
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disease, characterized by microcephaly, growth retardation, immunodeficiency, chromosome instability, radiation sensitivity, and a strong predisposition to lymphoid malignancy. The gene responsible for the development of this syndrome (NBS1) was...
Ataxia-telangiectasia-like disorder (ATLD)—its clinical presentation and molecular basis ataxia-telangiectasia-like disease (ATLD), a result of deficiency of the human Mre11 protein; and the Nijmegen breakage syndrome (NBS), which represents... A.M.R. Taylor and A. Groom and P.J. Byrd -...
Cutaneous sarcoid-like granulomas in a child known with Nijmegen breakage syndrome. Iran J Pediatr (2013) 23(1):100-4. AL Rachisan,G Dan,N Miu - 《Iranian Journal of Pediatrics》 被引量: 2发表: 2013年 Nijmegen Breakage Syndrome Complicated With Primary Pulmonary Granulomas. This is the...
Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. Am. J. Hum. Genet. 84 (5), 605-616.Waltes, R. et al. Human RAD50 Deficiency in a Nijmegen Breakage Syndrome-like Disorder. Am. J. Hum. Genet. 84, 605-616 (2009)....
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 ...
Ataxia-telangiectasia (A-T) and Nijmegen breakage syndrome (NBS) are well-known single-gene disorders, which have similar cellular phenotypes, including chromosome instability, radioresistant DNA synthesis, and hypersensitivity to radiation. Such phenotypic similarity implies direct physical association and/...