标题
Mutations in XRCC4 cause primordial dwarfism without causing immunodeficiency
作者
关键词
-
出版物
JOURNAL OF HUMAN GENETICS
Volume 61, Issue 8, Pages 679-685
出版商
Springer Nature
发表日期
2016-05-12
DOI
10.1038/jhg.2016.46
参考文献
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。- Mutations in the NHEJ Component XRCC4 Cause Primordial Dwarfism
- (2015) Jennie E. Murray et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Lysine 271 but not lysine 210 of XRCC4 is required for the nuclear localization of XRCC4 and DNA ligase IV
- (2015) Mikoto Fukuchi et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy
- (2015) L. Bee et al. EMBO Molecular Medicine
- When natural mutants do not fit our expectations: the intriguing case of patients with XRCC4 mutations revealed by whole-exome sequencing
- (2015) J.-P. de Villartay EMBO Molecular Medicine
- XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency
- (2015) Chaowan Guo et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- AnXRCC4Splice Mutation Associated With Severe Short Stature, Gonadal Failure, and Early-Onset Metabolic Syndrome
- (2015) Christiaan de Bruin et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Organization and dynamics of the nonhomologous end-joining machinery during DNA double-strand break repair
- (2015) Dylan A. Reid et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- PAXX, a paralog of XRCC4 and XLF, interacts with Ku to promote DNA double-strand break repair
- (2015) T. Ochi et al. SCIENCE
- Interactome analysis identifies a new paralogue of XRCC4 in non-homologous end joining DNA repair pathway
- (2015) Mengtan Xing et al. Nature Communications
- DNA Ligase IV regulates XRCC4 nuclear localization
- (2014) Dailia B. Francis et al. DNA REPAIR
- The clinical impact of deficiency in DNA non-homologous end-joining
- (2014) Lisa Woodbine et al. DNA REPAIR
- Genomic analysis of primordial dwarfism reveals novel disease genes
- (2014) R. Shaheen et al. GENOME RESEARCH
- Canonical Non-Homologous End Joining in Mitosis Induces Genome Instability and Is Suppressed by M-phase-Specific Phosphorylation of XRCC4
- (2014) Masahiro Terasawa et al. PLoS Genetics
- DNA Double Strand Break Repair in Mitosis Is Suppressed by Phosphorylation of XRCC4
- (2014) Susan P. Lees-Miller PLoS Genetics
- DNA DSB repair pathway choice: an orchestrated handover mechanism
- (2013) A Kakarougkas et al. BRITISH JOURNAL OF RADIOLOGY
- Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency
- (2013) Jennie E. Murray et al. HUMAN MUTATION
- PRKDC mutations in a SCID patient with profound neurological abnormalities
- (2013) Lisa Woodbine et al. JOURNAL OF CLINICAL INVESTIGATION
- XRCC4 and XLF form long helical protein filaments suitable for DNA end protection and alignment to facilitate DNA double strand break repair
- (2012) Brandi L. Mahaney et al. Biochemistry and Cell Biology
- Cernunnos Deficiency Reduces Thymocyte Life Span and Alters the T Cell Repertoire in Mice and Humans
- (2012) G. Vera et al. MOLECULAR AND CELLULAR BIOLOGY
- The Mechanism of Double-Strand DNA Break Repair by the Nonhomologous DNA End-Joining Pathway
- (2010) Michael R. Lieber Annual Review of Biochemistry
- Functions and Regulation of Artemis: A Goddess in the Maintenance of Genome Integrity
- (2010) Aya KUROSAWA et al. JOURNAL OF RADIATION RESEARCH
- Ancient and Recent Adaptive Evolution of Primate Non-Homologous End Joining Genes
- (2010) Ann Demogines et al. PLoS Genetics
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