Primary immunodeficiencies associated with DNA-repair disorders

Genomic Instability Resulting from Blm Deficiency Compromises Development, Maintenance, and Function of the B Cell Lineage

(2014) H. Babbe et al.   JOURNAL OF IMMUNOLOGY

DNA ligase I and Nbs1 proteins associate in a complex and colocalize at replication factories

(2011) Riccardo Vago et al.   CELL CYCLE

Ataxia-telangiectasia patients presenting with hyper-IgM syndrome

(2009) J G Noordzij et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Histone H2AX participates the DNA damage-induced ATM activation through interaction with NBS1

(2009) Junya Kobayashi et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Reduced immunoglobulin class switch recombination in the absence of Artemis

(2009) P. Rivera-Munoz et al.   BLOOD

Genetic variation in the NBS1, MRE11, RAD50 and BLM genes and susceptibility to non-Hodgkin lymphoma

(2009) Johanna M Schuetz et al.   BMC Medical Genetics

The RIDDLE Syndrome Protein Mediates a Ubiquitin-Dependent Signaling Cascade at Sites of DNA Damage

(2009) Grant S. Stewart et al.   CELL

Sequence Variant Discovery in DNA Repair Genes from Radiosensitive and Radiotolerant Prostate Brachytherapy Patients

(2009) T. J. Pugh et al.   CLINICAL CANCER RESEARCH

Impaired lymphocyte development and antibody class switching and increased malignancy in a murine model of DNA ligase IV syndrome

(2009) Anastasia Nijnik et al.   JOURNAL OF CLINICAL INVESTIGATION

Parp1 facilitates alternative NHEJ, whereas Parp2 suppresses IgH/c-myc translocations during immunoglobulin class switch recombination

(2009) Isabelle Robert et al.   JOURNAL OF EXPERIMENTAL MEDICINE

MRN complex function in the repair of chromosomal Rag-mediated DNA double-strand breaks

(2009) Beth A. Helmink et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Two Brothers with Ataxia-Telangiectasia-like Disorder with Lung Adenocarcinoma

(2009) Naoki Uchisaka et al.   JOURNAL OF PEDIATRICS

DNA Ligase I Deficiency Leads to Replication-Dependent DNA Damage and Impacts Cell Morphology without Blocking Cell Cycle Progression

(2009) S. Soza et al.   MOLECULAR AND CELLULAR BIOLOGY

A novel mutation in a family with DNA ligase IV deficiency syndrome

(2009) Sule Unal et al.   PEDIATRIC BLOOD & CANCER

Interference of mismatch and base excision repair during the processing of adjacent U/G mispairs may play a key role in somatic hypermutation

(2009) S. Schanz et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic Susceptibility to Renal Cell Carcinoma: The Role of DNA Double-Strand Break Repair Pathway

(2008) V. Margulis et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene

(2008) E. R. Staples et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Single-Nucleotide Polymorphisms of DNA Damage Response Genes Are Associated with Overall Survival in Patients with Pancreatic Cancer

(2008) T. Okazaki et al.   CLINICAL CANCER RESEARCH

Omenn syndrome is associated with mutations in DNA ligase IV

(2008) Eyal Grunebaum et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

DNA-PKcs and Artemis function in the end-joining phase of immunoglobulin heavy chain class switch recombination

(2008) Sonia Franco et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Involvement of Artemis in nonhomologous end-joining during immunoglobulin class switch recombination

(2008) Likun Du et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination

(2008) Sophie Péron et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Lymphocyte-Specific Compensation for XLF/Cernunnos End-Joining Functions in V(D)J Recombination

(2008) Gang Li et al.   MOLECULAR CELL

Stable and Functional Lymphoid Reconstitution in Artemis-deficient Mice Following Lentiviral Artemis Gene Transfer Into Hematopoietic Stem Cells

(2008) Fatine Benjelloun et al.   MOLECULAR THERAPY

53BP1 facilitates long-range DNA end-joining during V(D)J recombination

(2008) Simone Difilippantonio et al.   NATURE

An Immunodeficiency Disease withRAGMutations and Granulomas

(2008) Catharina Schuetz et al.   NEW ENGLAND JOURNAL OF MEDICINE

Human DNA ligases I and III, but not ligase IV, are required for microhomology-mediated end joining of DNA double-strand breaks

(2008) L. Liang et al.   NUCLEIC ACIDS RESEARCH

Non-Hodgkin lymphoma (NHL) in children with Nijmegen Breakage syndrome (NBS)

(2008) Bozenna Dembowska-Baginska et al.   PEDIATRIC BLOOD & CANCER

Unrelated hematopoietic stem cell transplantation for Cernunnos-XLF deficiency

(2008) Maura Faraci et al.   PEDIATRIC TRANSPLANTATION

Immunoglobulin class switch recombination: study through human natural mutants

(2008) A. Durandy   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Molecular mechanism for generation of antibody memory

(2008) V. Shivarov et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Ophthalmic features of ataxia telangiectasia–like disorder

(2007) Arif O. Khan et al.   JOURNAL OF AAPOS