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Title
DNA ligase IV syndrome; a review
Authors
Keywords
DNA Ligase 4, Severe combined immunodeficiency, Primordial dwarfism, Radiosensitive, Lymphoid malignancy
Journal
Orphanet Journal of Rare Diseases
Volume 11, Issue 1, Pages -
Publisher
Springer Nature
Online
2016-10-07
DOI
10.1186/s13023-016-0520-1
References
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Related references
Note: Only part of the references are listed.- Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals
- (2016) Kerstin Felgentreff et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Oxidative DNA damage in the in utero initiation of postnatal neurodevelopmental deficits by normal fetal and ethanol-enhanced oxidative stress in oxoguanine glycosylase 1 knockout mice
- (2015) Lutfiya Miller-Pinsler et al. FREE RADICAL BIOLOGY AND MEDICINE
- Radiation-sensitive severe combined immunodeficiency: The arguments for and against conditioning before hematopoietic cell transplantation—what to do?
- (2015) Morton J. Cowan et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- 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
- Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options – a Retrospective Analysis
- (2015) Beata Wolska-Kuśnierz et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Diversity and clonal selection in the human T-cell repertoire
- (2014) Q. Qi et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- The fidelity of the ligation step determines how ends are resolved during nonhomologous end joining
- (2014) Crystal A. Waters et al. Nature Communications
- A human iPSC model of Ligase IV deficiency reveals an important role for NHEJ-mediated-DSB repair in the survival and genomic stability of induced pluripotent stem cells and emerging haematopoietic progenitors
- (2013) K Tilgner et al. CELL DEATH AND DIFFERENTIATION
- Clinical Spectrum of LIG4 Deficiency Is Broadened with Severe Dysmaturity, Primordial Dwarfism, and Neurological Abnormalities
- (2013) Hanna IJspeert et al. HUMAN MUTATION
- Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency
- (2013) Jennie E. Murray et al. HUMAN MUTATION
- Epstein-Barr virus–independent diffuse large B-cell lymphoma in DNA ligase 4 deficiency
- (2012) Chris M. Bacon et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Polymerases in Nonhomologous End Joining: Building a Bridge over Broken Chromosomes
- (2010) Dale A. Ramsden ANTIOXIDANTS & REDOX SIGNALING
- Primary immunodeficiencies associated with DNA-repair disorders
- (2010) Mary A. Slatter et al. EXPERT REVIEWS IN MOLECULAR MEDICINE
- Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome
- (2010) F. Rucci et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Learning to be tolerant: how T cells keep out of trouble
- (2009) G. A. Holländer et al. JOURNAL OF INTERNAL MEDICINE
- Haemopoietic stem-cell transplantation with antibody-based minimal-intensity conditioning: a phase 1/2 study
- (2009) Karin C Straathof et al. LANCET
- A novel mutation in a family with DNA ligase IV deficiency syndrome
- (2009) Sule Unal et al. PEDIATRIC BLOOD & CANCER
- Omenn syndrome is associated with mutations in DNA ligase IV
- (2008) Eyal Grunebaum et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- End-bridging is required for pol μ to efficiently promote repair of noncomplementary ends by nonhomologous end joining
- (2008) Bryan J. Davis et al. NUCLEIC ACIDS RESEARCH
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