Literature DB >> 19732584

Two brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma.

Naoki Uchisaka1, Naomi Takahashi, Masaki Sato, Akira Kikuchi, Shinji Mochizuki, Kohsuke Imai, Shigeaki Nonoyama, Osamu Ohara, Fumiaki Watanabe, Shuki Mizutani, Ryoji Hanada, Tomohiro Morio.   

Abstract

We report on 2 brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma. They both had ataxia with cerebellar atrophy and mental retardation. They had the same mutation of the MRE11 gene, which has not been reported previously (c.727T>C and g.24994G>A).

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Year:  2009        PMID: 19732584     DOI: 10.1016/j.jpeds.2009.02.037

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


  24 in total

Review 1.  The MRE11-RAD50-NBS1 Complex Conducts the Orchestration of Damage Signaling and Outcomes to Stress in DNA Replication and Repair.

Authors:  Aleem Syed; John A Tainer
Journal:  Annu Rev Biochem       Date:  2018-04-25       Impact factor: 23.643

2.  Clinical course of two Italian siblings with ataxia-telangiectasia-like disorder.

Authors:  Silvia Palmeri; Alessandra Rufa; Barbara Pucci; Emiliano Santarnecchi; Alessandro Malandrini; Maria Laura Stromillo; Marco Mandalà; Francesca Rosini; Nicola De Stefano; Antonio Federico
Journal:  Cerebellum       Date:  2013-08       Impact factor: 3.847

Review 3.  Recent advances in the study of immunodeficiency and DNA damage response.

Authors:  Tomohiro Morio
Journal:  Int J Hematol       Date:  2017-05-26       Impact factor: 2.490

Review 4.  Structural studies of DNA end detection and resection in homologous recombination.

Authors:  Christian Bernd Schiller; Florian Ulrich Seifert; Christian Linke-Winnebeck; Karl-Peter Hopfner
Journal:  Cold Spring Harb Perspect Biol       Date:  2014-07-31       Impact factor: 10.005

5.  Copy number deletion of RAD50 as predictive marker of BRCAness and PARP inhibitor response in BRCA wild type ovarian cancer.

Authors:  Min Zhang; Guoyan Liu; Fengxia Xue; Robert Edwards; Anil K Sood; Wei Zhang; Da Yang
Journal:  Gynecol Oncol       Date:  2016-04       Impact factor: 5.482

6.  MRE11 Promotes Tumorigenesis by Facilitating Resistance to Oncogene-Induced Replication Stress.

Authors:  Elizabeth Spehalski; Kayla M Capper; Cheryl J Smith; Mary J Morgan; Maria Dinkelmann; Jeffrey Buis; JoAnn M Sekiguchi; David O Ferguson
Journal:  Cancer Res       Date:  2017-08-17       Impact factor: 12.701

Review 7.  The MRE11 complex: starting from the ends.

Authors:  Travis H Stracker; John H J Petrini
Journal:  Nat Rev Mol Cell Biol       Date:  2011-02       Impact factor: 94.444

8.  DNA repair genes implicated in triple negative familial non-BRCA1/2 breast cancer predisposition.

Authors:  Marie Ollier; Nina Radosevic-Robin; Fabrice Kwiatkowski; Flora Ponelle; Sandrine Viala; Maud Privat; Nancy Uhrhammer; Dominique Bernard-Gallon; Frédérique Penault-Llorca; Yves-Jean Bignon; Yannick Bidet
Journal:  Am J Cancer Res       Date:  2015-06-15       Impact factor: 6.166

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

Authors:  Joshua A Regal; Todd A Festerling; Jeffrey M Buis; David O Ferguson
Journal:  Hum Mol Genet       Date:  2013-08-02       Impact factor: 6.150

Review 10.  XCIND as a genetic disease of X-irradiation hypersensitivity and cancer susceptibility.

Authors:  Shuki Mizutani; Masatoshi Takagi
Journal:  Int J Hematol       Date:  2012-12-25       Impact factor: 2.490

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