Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals

T-cell receptor repertoire variation may be associated with type 2 diabetes mellitus in humans

(2016) Joseph A. Frankl et al.   DIABETES-METABOLISM RESEARCH AND REVIEWS

Mutations in the NHEJ Component XRCC4 Cause Primordial Dwarfism

(2015) Jennie E. Murray et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency

(2015) Shinobu Tamura et al.   CLINICAL IMMUNOLOGY

The short and long telomere syndromes: paired paradigms for molecular medicine

(2015) Susan E Stanley et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

DCLRE1C(ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency

(2015) Timo Volk et al.   HUMAN MOLECULAR GENETICS

Radiation Sensitivity and Radiation Necrosis in the Short Telomere Syndromes

(2015) Susan E. Stanley et al.   INTERNATIONAL JOURNAL OF RADIATION ONCOLOGY BIOLOGY PHYSICS

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

The clinical impact of deficiency in DNA non-homologous end-joining

(2014) Lisa Woodbine et al.   DNA REPAIR

Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes

(2014) Hanna IJspeert et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Human syndromes of immunodeficiency and dysregulation are characterized by distinct defects in T-cell receptor repertoire development

(2014) Xiaomin Yu et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Differential role of nonhomologous end joining factors in the generation, DNA damage response, and myeloid differentiation of human induced pluripotent stem cells

(2014) K. Felgentreff et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Escape from Telomere-Driven Crisis Is DNA Ligase III Dependent

(2014) Rhiannon E. Jones et al.   Cell Reports

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

Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: The Primary Immune Deficiency Treatment Consortium experience

(2013) William T. Shearer et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Expansion of Autoreactive Unresponsive CD21−/lowB Cells in Sjögren's Syndrome-Associated Lymphoproliferation

(2012) D. Saadoun et al.   ARTHRITIS AND RHEUMATISM

Immunoglobulin Analysis Tool: A Novel Tool for the Analysis of Human and Mouse Heavy and Light Chain Transcripts

(2012) Tobias Rogosch et al.   Frontiers in Immunology

Requirement for DNA Ligase IV during Embryonic Neuronal Development

(2011) S. A. Gatz et al.   JOURNAL OF NEUROSCIENCE

DNA Ligase III Promotes Alternative Nonhomologous End-Joining during Chromosomal Translocation Formation

(2011) Deniz Simsek et al.   PLoS Genetics

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

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

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

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