ArticleAmerican journal of human genetics1997
The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
29 citing papers in PubMed, 106 citations in OpenAlex.
- Article
- Mechanisms of DNA-protein crosslink repair.Nature reviews. Molecular cell biology · 2017Review
- T-lymphoblastic leukemia/lymphoma in macedonian patients with Nijmegen breakage syndrome.Balkan journal of medical genetics : BJMG · 2016Article
- The role of the DNA damage response kinase ataxia telangiectasia mutated in neuroprotection.The Yale journal of biology and medicine · 2012Review
- DNA repair deficiency and neurological disease.Nature reviews. Neuroscience · 2009Review
- Importin KPNA2, NBS1, DNA repair and tumorigenesis.Journal of molecular histology · 2006Review
- Heterozygous carriers of Nijmegen Breakage Syndrome have a distinct gene expression phenotype.Genome research · 2006Article
- Ataxia-telangiectasia and related diseases.Neuromolecular medicine · 2006Review
- Nbs1 is required for ATR-dependent phosphorylation events.The EMBO journal · 2005Article
- Nijmegen breakage syndrome gene, NBS1, and molecular links to factors for genome stability.Oncogene · 2002Review
- Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36.American journal of human genetics · 2002Article
- G2-phase radiation response in lymphoblastoid cell lines from Nijmegen breakage syndrome.Cell proliferation · 2002Article
- Chk2 activation dependence on Nbs1 after DNA damage.Molecular and cellular biology · 2001Article
- Role of Nijmegen breakage syndrome protein in specific T-lymphocyte activation pathways.Clinical and diagnostic laboratory immunology · 2001Article
- Distinct functional domains of nibrin mediate Mre11 binding, focus formation, and nuclear localization.Molecular and cellular biology · 2001Article
- The pathogenesis of ataxia-telangiectasia. Learning from a Rosetta Stone.Clinical reviews in allergy & immunology · 2001Review
- Splitting schizophrenia: periodic catatonia-susceptibility locus on chromosome 15q15.American journal of human genetics · 2000Article
- Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group.Archives of disease in childhood · 2000Review
- Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree.American journal of human genetics · 2000Article
- Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form Is linked to chromosome 11q13-q21.American journal of human genetics · 1999Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Nijmegen breakage syndrome (NBS; Seemanová II syndrome) and Berlin breakage syndrome (BBS), also known as ataxia-telangiectasia variants, are two clinically indistinguishable autosomal recessive familial cancer syndromes that share with ataxia-telangiectasia similar cellular, immunological, and chromosomal but not clinical findings. Classification in NBS and BBS was based on complementation of their hypersensitivity to ionizing radiation in cell-fusion experiments. Recent investigations have questioned the former classification into two different disease entities, suggesting that NBS/BBS is caused by mutations in a single radiosensitivity gene. We now have performed a whole-genome screen in 14 NBS/BBS families and have localized the gene for NBS/BBS to a 1-cM interval on chromosome 8q21, between markers D8S271 and D8S270, with a peak LOD score of 6.86 at D8S1811. This marker also shows strong allelic association to both Slavic NBS and German BBS patients, suggesting the existence of one major mutation of Slavic origin. Since the same allele is seen in both former complementation groups, genetic homogeneity of NBS/BBS can be considered as proved.
Indexed as
Identifiers
9042920PMC1712504W1588888865What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.