NBS1 (Nijmegen breakage syndrome 1)
نویسندگان
چکیده
منابع مشابه
Nijmegen breakage syndrome (NBS)
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 NBN gene (c.657_661del5) the disease is encountered most frequently among Slavic populations. The principal clinical manifestations of the syndro...
متن کاملMutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL).
The Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive disorder associated with immune deficiency, chromosome fragility, and increased susceptibility to lymphoid malignancies. The aim of the present study was to elucidate the potential role of the gene mutated in NBS (NBS1) in the pathogenesis and disease progression of childhood acute lymphoblastic leukemia (ALL). Samples from 47 c...
متن کاملSyndrome of the month Nijmegen breakage syndrome
Nijmegen breakage syndrome (NBS), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variants VI and V2, is characterised by microcephaly, typical facies, short stature, immunodeficiency, and chromosomal instability. We report the clinical, immunological, chromosomal, and cell biological findings in 42 patients who are included in the NBS Registry in Nijmegen. The imm...
متن کاملTargeted disruption of the Nijmegen breakage syndrome gene NBS1 leads to early embryonic lethality in mice
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive human disease whose clinical features include growth retardation, immunodeficiency, and increased susceptibility to lymphoid malignancies. Cells from NBS patients exhibit gamma-irradiation sensitivity, S-phase checkpoint defects, and genomic instability. Recently, it was demonstrated that this chromosomal breakage syndrome is caused...
متن کاملNijmegen breakage syndrome in a Dutch patient not resulting from a defect in NBS1.
EDITOR—Nijmegen breakage syndrome (NBS) is a rare autosomal recessive chromosomal instability disorder characterised by microcephaly, immunodeficiency, x ray hypersensitivity, and predisposition to malignancy. The gene responsible for NBS, NBS1, is located on chromosome 8q21 and encodes a protein called nibrin. This protein is a component of the hMre11/hRad50 protein complex, suggesting defecti...
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ژورنال
عنوان ژورنال: Atlas of Genetics and Cytogenetics in Oncology and Haematology
سال: 2011
ISSN: 1768-3262
DOI: 10.4267/2042/37551