相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics
Laura V. Vandervore et al.
BRAIN (2019)
Three new cases of ataxia-telangiectasia-like disorder: No impairment of the ATM pathway, but S-phase checkpoint defect
Alice Fievet et al.
HUMAN MUTATION (2019)
Mixoploidy combined with aneuploidy in a 13 year-old patient with severe multiple congenital abnormalities and intellectual disability
Laura J. C. M. van Zutven et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)
Mechanisms of DNA Damage, Repair, and Mutagenesis
Nimrat Chatterjee et al.
ENVIRONMENTAL AND MOLECULAR MUTAGENESIS (2017)
Mechanisms of DNA-protein crosslink repair
Julian Stingele et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2017)
Clinical and Biological Manifestation of RNF168 Deficiency in Two Polish Siblings
Barbara Pietrucha et al.
FRONTIERS IN IMMUNOLOGY (2017)
Mre11 Is Essential for the Removal of Lethal Topoisomerase 2 Covalent Cleavage Complexes (vol 64, pg 580, 2016)
Nguyen Ngoc Hoa et al.
MOLECULAR CELL (2016)
DNA ligase IV syndrome; a review
Thomas Altmann et al.
ORPHANET JOURNAL OF RARE DISEASES (2016)
RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome
Nina Boegershausen et al.
JOURNAL OF CLINICAL INVESTIGATION (2015)
ATM-Dependent Phosphorylation of All Three Members of the MRN Complex: From Sensor to Adaptor
Martin F. Lavin et al.
BIOMOLECULES (2015)
DNA double-strand break repair pathway choice and cancer
Tomas Aparicio et al.
DNA REPAIR (2014)
Protective role of RAD50 on chromatin bridges during abnormal cytokinesis
Bianca Schroeder-Heurich et al.
FASEB JOURNAL (2014)
Sources of DNA Double-Strand Breaks and Models of Recombinational DNA Repair
Anuja Mehta et al.
COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2014)
Clinical Course of Two Italian Siblings with Ataxia-Telangiectasia-Like Disorder
Silvia Palmeri et al.
CEREBELLUM (2013)
Two unrelated patients with MRE1 1A mutations and Nijmegen breakage syndrome-like severe microcephaly
Yoshiyuki Matsumoto et al.
DNA REPAIR (2011)
Mre11-Rad50-Nbs1 conformations and the control of sensing, signaling, and effector responses at DNA double-strand breaks
Gareth J. Williams et al.
DNA REPAIR (2010)
Clinical Variability and Novel Mutations in the NHEJ1 Gene in Patients With a Nijmegen Breakage Syndrome-like Phenotype
Veronique Dutrannoy et al.
HUMAN MUTATION (2010)
Human RAD50 Deficiency in a Nijmegen Breakage Syndrome-like Disorder
Regina Waltes et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Conditional deletion of Nbs1 in murine cells reveals its role in branching repair pathways of DNA double-strand breaks
Yun-Gui Yang et al.
EMBO JOURNAL (2006)
Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder
M Fernet et al.
HUMAN MOLECULAR GENETICS (2005)
MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder
D Delia et al.
HUMAN MOLECULAR GENETICS (2004)
NBS1 and its functional role in the DNA damage response
J Kobayashi et al.
DNA REPAIR (2004)
Targeted disruption of the Nijmegen breakage syndrome gene NBS1 leads to early embryonic lethality in mice
J Zhu et al.
CURRENT BIOLOGY (2001)