Varaico: Literature-Extracted Genetic Variants

Gene:MRE11
Variant:p.N117S
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MRE11

NM_005591.4:p.N117S

Associated Papers

Risk of lymphoid malignancy associated with cancer predisposition genes.

Boddicker NJ et al.

Blood Cancer Journal, 2025

40253392 (PubMed )
Supplement: 41408_2025_1283_MOESM1_ESM.xlsx › Table_S15

Prevalence of germline variants in Brazilian pancreatic carcinoma patients.

Rodrigues LM et al.

Scientific Reports, 2024

Reduced levels of MRE11 cause disease phenotypes distinct from ataxia telangiectasia-like disorder.

Hartlerode AJ et al.

Human Molecular 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

High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics.

Thomas Q et al.

Journal of Medical Genetics, 2022

Poly-ADP-ribosylation drives loss of protein homeostasis in ATM and Mre11 deficiency.

Lee JH et al.

Molecular Cell, 2021

A Survey of Reported Disease-Related Mutations in the MRE11-RAD50-NBS1 Complex.

Rahman S et al.

Cells, 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

Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.

Girard E et al.

International Journal of Cancer, 2019

30303537 (PubMed )
Supplement: IJC-144-1962-s006.pdf

Structure-function relationships of the Mre11 protein in the control of DNA end bridging and processing.

Marsella A et al.

Current Genetics, 2019

Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant.

Sedghi M et al.

Neurology. Genetics, 2018

Reversible mislocalization of a disease-associated MRE11 splice variant product.

Hartlerode AJ et al.

Scientific Reports, 2018

Germline Mutation Status, Pathological Complete Response, and Disease-Free Survival in Triple-Negative Breast Cancer: Secondary Analysis of the GeparSixto Randomized Clinical Trial.

Hahnen E et al.

Jama Oncology, 2017

MRE11 stability is regulated by CK2-dependent interaction with R2TP complex.

von Morgen P et al.

Oncogene, 2017

Disease-associated MRE11 mutants impact ATM/ATR DNA damage signaling by distinct mechanisms.

Regal JA et al.

Human Molecular Genetics, 2013

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.

Németh AH et al.

Brain : a Journal of Neurology, 2013

Mre11 ATLD17/18 mutation retains Tel1/ATM activity but blocks DNA double-strand break repair.

Limbo O et al.

Nucleic Acids Research, 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

Mre11 modulates the fidelity of fusion between short telomeres in human cells.

Tankimanova M et al.

Nucleic Acids Research, 2012

Crystal structure of human Mre11: understanding tumorigenic mutations.

Park YB et al.

Structure (london, England : 1993), 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

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

Bartkova J et al.

Molecular Oncology, 2008

Mre11 dimers coordinate DNA end bridging and nuclease processing in double-strand-break repair.

Williams RS et al.

Cell, 2008

A mutant allele of MRE11 found in mismatch repair-deficient tumor cells suppresses the cellular response to DNA replication fork stress in a dominant negative manner.

Wen Q et al.

Molecular Biology of the Cell, 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

The Mre11 complex and ATM: a two-way functional interaction in recognising and signaling DNA double strand breaks.

Lavin MF

Dna Repair, 2004

MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder.

Delia D et al.

Human Molecular Genetics, 2004

Delineation of the role of the Mre11 complex in class switch recombination.

Lähdesmäki A et al.

The Journal of Biological Chemistry, 2004

Regulation of Mre11/Rad50 by Nbs1: effects on nucleotide-dependent DNA binding and association with ataxia-telangiectasia-like disorder mutant complexes.

Lee JH et al.

The Journal of Biological Chemistry, 2003

The Mre11 complex: at the crossroads of dna repair and checkpoint signalling.

D'Amours D et al.

Nature Reviews. Molecular Cell Biology, 2002

Ataxia without telangiectasia revisited: update on genetic findings in two brothers with an ataxia-telangiectasia-like disorder.

Klein C et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2001

Structural biochemistry and interaction architecture of the DNA double-strand break repair Mre11 nuclease and Rad50-ATPase.

Hopfner KP et al.

Cell, 2001

[Ataxia telangiectasia, immunity disorders, terminal lymphosarcomatosis in 2 brothers].

Castaigne P et al.

La Presse Medicale, 1969

The Mre11 complex and the metabolism of chromosome breaks: the importance of communicating and holding things together.

Stracker TH et al.

Dna Repair, 0

Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis.

Taylor AM et al.

Dna Repair, 0

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