Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
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
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Alfares A et al.
Bmc Medical Genomics, 2020
A Survey of Reported Disease-Related Mutations in the MRE11-RAD50-NBS1 Complex.
Rahman S et al.
Cells, 2020
RAD50 regulates mitotic progression independent of DNA repair functions.
Völkening L et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020
Three new cases of ataxia-telangiectasia-like disorder: No impairment of the ATM pathway, but S-phase checkpoint defect.
Fiévet A et al.
Human Mutation, 2019
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
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
RPA Mediates Recruitment of MRX to Forks and Double-Strand Breaks to Hold Sister Chromatids Together.
Seeber A et al.
Molecular Cell, 2016
Mre11 ATLD17/18 mutation retains Tel1/ATM activity but blocks DNA double-strand break repair.
Limbo O et al.
Nucleic Acids Research, 2012
Map of autosomal recessive genetic disorders in Saudi Arabia: concepts and future directions.
Al-Owain M et al.
American Journal of Medical Genetics. Part A, 2012
Structure of Mre11-Nbs1 complex yields insights into ataxia-telangiectasia-like disease mutations and DNA damage signaling.
Schiller CB et al.
Nature Structural & Molecular Biology, 2012
Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia.
Bohlega SA et al.
Bmc Medical Genetics, 2011
Mre11-Rad50-Nbs1 conformations and the control of sensing, signaling, and effector responses at DNA double-strand breaks.
Williams GJ et al.
Dna Repair, 2010
Mre11 dimers coordinate DNA end bridging and nuclease processing in double-strand-break repair.
Williams RS et al.
Cell, 2008
Ophthalmic features of ataxia telangiectasia-like disorder.
Khan AO et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2008
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
Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder.
Fernet M et al.
Human Molecular Genetics, 2005