Condition: Ataxia-Telangiectasisa-Like Disorder 1


rs137852759 in MRE11 gene and Ataxia-Telangiectasisa-Like Disorder 1 PMID 10612394 1999 The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder.

PMID 22863007 2012 Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.

PMID 14690604 2003 Checkpoint failure and chromosomal instability without lymphomagenesis in Mre11(ATLD1/ATLD1) mice.

PMID 8445618 1993 A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23.

PMID 25040471 2015 Ataxia telangiectasia: more variation at clinical and cellular levels.

PMID 19383352 2008 Aberrations of the MRE11-RAD50-NBS1 DNA damage sensor complex in human breast cancer: MRE11 as a candidate familial cancer-predisposing gene.

PMID 29170652 2017 Characteristic Eye Movements in Ataxia-Telangiectasia-Like Disorder: An Explanatory Hypothesis.

PMID 15269180 2004 Interestingly, the 1714C-->T mutation is the same as previously identified in an unrelated English ATLD family (probands ATLD3 and ATLD4), suggesting an important role for NMD in saving potentially lethal mutations.

PMID 11371508 2001 hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay.

PMID 21227757 2011 Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly.

rs371077728 in MRE11;MIR548L gene and Ataxia-Telangiectasisa-Like Disorder 1 PMID 25503501 2015 Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.

PMID 28559769 2017 Next-Generation Sequencing Reveals a Nonsense Mutation (p.Arg364Ter) in MRE11A Gene in an Indian Patient with Familial Breast Cancer.

PMID 24763289 2014 Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.