Associated Papers
Reduced levels of MRE11 cause disease phenotypes distinct from ataxia telangiectasia-like disorder.
Hartlerode AJ et al.
Human Molecular Genetics, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
An in-silico analysis to identify structural, functional and regulatory role of SNPs in hMRE11.
Tarapara B et al.
Journal of Biomolecular Structure & Dynamics, 2023
Importance of Germline and Somatic Alterations in Human MRE11, RAD50, and NBN Genes Coding for MRN Complex.
Otahalova B et al.
International Journal of Molecular Sciences, 2023
Cervical dystonia and no oculomotor apraxia as new manifestation of ataxia-telangiectasia-like disorder 1 - case report and review of the literature.
Bajek A et al.
Frontiers in Neurology, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Diagnostic Yield of Whole Exome Sequencing for Adults with Ataxia: a Brazilian Perspective.
da Graça FF et al.
Cerebellum (london, England), 2022
A Survey of Reported Disease-Related Mutations in the MRE11-RAD50-NBS1 Complex.
Rahman S et al.
Cells, 2020
Ataxia telangiectasia like disorder: Another dopa-responsive disorder look-alike?
Ser MH et al.
Parkinsonism & Related Disorders, 2020
Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant.
Sedghi M et al.
Neurology. Genetics, 2018
MRE11 stability is regulated by CK2-dependent interaction with R2TP complex.
von Morgen P et al.
Oncogene, 2017
Characteristic Eye Movements in Ataxia-Telangiectasia-Like Disorder: An Explanatory Hypothesis.
Federighi P et al.
Frontiers in Neurology, 2017
Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study.
Damiola F et al.
Breast Cancer Research : Bcr, 2014
Clinical course of two Italian siblings with ataxia-telangiectasia-like disorder.
Palmeri S et al.
Cerebellum (london, England), 2013
Genetic variations in DNA repair genes, radiosensitivity to cancer and susceptibility to acute tissue reactions in radiotherapy-treated cancer patients.
Chistiakov DA et al.
Acta Oncologica (stockholm, Sweden), 2008
MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder.
Delia D et al.
Human Molecular Genetics, 2004