Published in J Biol Chem on March 29, 2006
The mechanism of double-strand DNA break repair by the nonhomologous DNA end-joining pathway. Annu Rev Biochem (2010) 9.80
Eukaryotic DNA ligases: structural and functional insights. Annu Rev Biochem (2008) 2.44
Role for DNA repair factor XRCC4 in immunoglobulin class switch recombination. J Exp Med (2007) 2.05
Ku recruits XLF to DNA double-strand breaks. EMBO Rep (2007) 2.00
Lymphocyte-specific compensation for XLF/cernunnos end-joining functions in V(D)J recombination. Mol Cell (2008) 1.91
XRCC4:DNA ligase IV can ligate incompatible DNA ends and can ligate across gaps. EMBO J (2007) 1.80
Defective DNA repair and increased genomic instability in Cernunnos-XLF-deficient murine ES cells. Proc Natl Acad Sci U S A (2007) 1.69
Crystal structure of human XLF/Cernunnos reveals unexpected differences from XRCC4 with implications for NHEJ. EMBO J (2007) 1.66
Single-stranded DNA ligation and XLF-stimulated incompatible DNA end ligation by the XRCC4-DNA ligase IV complex: influence of terminal DNA sequence. Nucleic Acids Res (2007) 1.56
XLF-Cernunnos promotes DNA ligase IV-XRCC4 re-adenylation following ligation. Nucleic Acids Res (2008) 1.44
XLF regulates filament architecture of the XRCC4·ligase IV complex. Structure (2010) 1.33
Modes of interaction among yeast Nej1, Lif1 and Dnl4 proteins and comparison to human XLF, XRCC4 and Lig4. DNA Repair (Amst) (2007) 1.29
Positive selection of yeast nonhomologous end-joining genes and a retrotransposon conflict hypothesis. Proc Natl Acad Sci U S A (2006) 1.26
Structural characterization of filaments formed by human Xrcc4-Cernunnos/XLF complex involved in nonhomologous DNA end-joining. Proc Natl Acad Sci U S A (2011) 1.18
Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome. Proc Natl Acad Sci U S A (2010) 1.12
Recruitment of Saccharomyces cerevisiae Dnl4-Lif1 complex to a double-strand break requires interactions with Yku80 and the Xrs2 FHA domain. Genetics (2008) 1.12
Delineation of the Xrcc4-interacting region in the globular head domain of cernunnos/XLF. J Biol Chem (2010) 1.09
Untangling the relationships between DNA repair pathways by silencing more than 20 DNA repair genes in human stable clones. Nucleic Acids Res (2007) 1.08
Ku heterodimer-independent end joining in Trypanosoma brucei cell extracts relies upon sequence microhomology. Eukaryot Cell (2007) 1.06
The non-homologous end-joining protein Nej1p is a target of the DNA damage checkpoint. DNA Repair (Amst) (2006) 1.04
Cernunnos deficiency reduces thymocyte life span and alters the T cell repertoire in mice and humans. Mol Cell Biol (2012) 1.04
The dynamics of Ku70/80 and DNA-PKcs at DSBs induced by ionizing radiation is dependent on the complexity of damage. Nucleic Acids Res (2012) 1.01
Evidence for Ku70/Ku80 association with full-length RAG1. Nucleic Acids Res (2008) 1.00
Requirement for XLF/Cernunnos in alignment-based gap filling by DNA polymerases lambda and mu for nonhomologous end joining in human whole-cell extracts. Nucleic Acids Res (2009) 0.99
A generalized analysis of hydrophobic and loop clusters within globular protein sequences. BMC Struct Biol (2007) 0.96
Highly precise and developmentally programmed genome assembly in Paramecium requires ligase IV-dependent end joining. PLoS Genet (2011) 0.96
The C-terminal domain of Cernunnos/XLF is dispensable for DNA repair in vivo. Mol Cell Biol (2008) 0.93
Dicentric breakage at telomere fusions. Genes Dev (2010) 0.92
Cernunnos influences human immunoglobulin class switch recombination and may be associated with B cell lymphomagenesis. J Exp Med (2012) 0.91
Positive selection on the nonhomologous end-joining factor Cernunnos-XLF in the human lineage. Biol Direct (2006) 0.87
The role of nonhomologous end-joining components in telomere metabolism in Kluyveromyces lactis. Genetics (2007) 0.87
RAG2 and XLF/Cernunnos interplay reveals a novel role for the RAG complex in DNA repair. Nat Commun (2016) 0.86
Specific Roles of XRCC4 Paralogs PAXX and XLF during V(D)J Recombination. Cell Rep (2016) 0.85
Xlf1 is required for DNA repair by nonhomologous end joining in Schizosaccharomyces pombe. Genetics (2006) 0.84
A role for XLF in DNA repair and recombination in human somatic cells. DNA Repair (Amst) (2014) 0.83
Comprehensive repertoire of foldable regions within whole genomes. PLoS Comput Biol (2013) 0.82
Defective signal joint recombination in fanconi anemia fibroblasts reveals a role for Rad50 in V(D)J recombination. J Mol Biol (2007) 0.81
Genome-wide screens for sensitivity to ionizing radiation identify the fission yeast nonhomologous end joining factor Xrc4. G3 (Bethesda) (2014) 0.78
Restricting the ligation step of non-homologous end-joining. DNA Repair (Amst) (2007) 0.76
Integration of DNA damage and repair with murine double-minute 2 (Mdm2) in tumorigenesis. Int J Mol Sci (2012) 0.76
Role of the yeast DNA repair protein Nej1 in end processing during the repair of DNA double strand breaks by non-homologous end joining. DNA Repair (Amst) (2015) 0.75
The Expression Levels of XLF and Mutant P53 Are Inversely Correlated in Head and Neck Cancer Cells. J Cancer (2016) 0.75
How do telomeres and NHEJ coexist? Mol Cell Oncol (2014) 0.75
Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1. J Clin Invest (2008) 9.42
Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy. Science (2009) 8.80
A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency. N Engl J Med (2003) 8.59
Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia. Nature (2010) 6.95
Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy. N Engl J Med (2002) 6.25
Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. Cell (2006) 5.33
Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). Cell (2003) 4.94
Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet (2002) 4.84
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. J Exp Med (2010) 3.98
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J Exp Med (2008) 3.85
Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination. Nat Immunol (2003) 3.81
Primary immunodeficiencies: 2009 update. J Allergy Clin Immunol (2009) 3.70
AID mutant analyses indicate requirement for class-switch-specific cofactors. Nat Immunol (2003) 3.69
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med (2011) 3.63
Efficacy of gene therapy for X-linked severe combined immunodeficiency. N Engl J Med (2010) 3.54
Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968-99. Lancet (2003) 3.44
Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage. Science (2013) 3.33
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature (2006) 3.30
Vector integration is nonrandom and clustered and influences the fate of lymphopoiesis in SCID-X1 gene therapy. J Clin Invest (2007) 3.28
Inflammasome activation in NADPH oxidase defective mononuclear phagocytes from patients with chronic granulomatous disease. Blood (2010) 3.23
Allogeneic bone marrow transplantation in mevalonic aciduria. N Engl J Med (2007) 3.18
Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol (2011) 3.05
Chronic granulomatous disease: the European experience. PLoS One (2009) 3.04
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol (2007) 2.98
Metallo-beta-lactamase fold within nucleic acids processing enzymes: the beta-CASP family. Nucleic Acids Res (2002) 2.76
STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity. N Engl J Med (2009) 2.72
Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product. J Exp Med (2005) 2.66
Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group. Haematologica (2005) 2.66
DNA bar coding and pyrosequencing to analyze adverse events in therapeutic gene transfer. Nucleic Acids Res (2008) 2.64
Long-term results of related myeloablative stem-cell transplantation to cure sickle cell disease. Blood (2007) 2.36
Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: entering a new century, do we do better? J Allergy Clin Immunol (2010) 2.35
Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries. Medicine (Baltimore) (2010) 2.33
Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4. Nat Immunol (2007) 2.28
Autoimmune lymphoproliferative syndrome with somatic Fas mutations. N Engl J Med (2004) 2.25
Immune reconstitution without graft-versus-host disease after haemopoietic stem-cell transplantation: a phase 1/2 study. Lancet (2002) 2.21
Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications. J Exp Med (2003) 2.19
Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU. Blood (2003) 2.11
ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia. J Allergy Clin Immunol (2009) 2.09
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. J Clin Invest (2009) 2.08
Role for DNA repair factor XRCC4 in immunoglobulin class switch recombination. J Exp Med (2007) 2.05
Dynamics of gene-modified progenitor cells analyzed by tracking retroviral integration sites in a human SCID-X1 gene therapy trial. Blood (2010) 2.05
Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency. Blood (2009) 2.03
Efficacy and safety of rituximab in B-cell post-transplantation lymphoproliferative disorders: results of a prospective multicenter phase 2 study. Blood (2005) 1.99
Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). J Clin Invest (2003) 1.93
Molecular mechanisms of biogenesis and exocytosis of cytotoxic granules. Nat Rev Immunol (2010) 1.93
A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. J Clin Invest (2003) 1.92
Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients. Pediatrics (2003) 1.91
Outcomes of transplantation using various hematopoietic cell sources in children with Hurler syndrome after myeloablative conditioning. Blood (2013) 1.91
Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency. Blood (2012) 1.80
The Hedgehog-inducible ubiquitin ligase subunit WSB-1 modulates thyroid hormone activation and PTHrP secretion in the developing growth plate. Nat Cell Biol (2005) 1.78
JAK2 stimulates homologous recombination and genetic instability: potential implication in the heterogeneity of myeloproliferative disorders. Blood (2008) 1.77
A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection. J Clin Invest (2005) 1.77
A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency. Blood (2013) 1.74
A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans. J Immunol (2002) 1.69
SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID. Blood (2013) 1.68
The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy. Structure (2002) 1.64
Impaired induction of DNA lesions during immunoglobulin class-switch recombination in humans influences end-joining repair. Proc Natl Acad Sci U S A (2010) 1.62
Immunotherapy of familial hemophagocytic lymphohistiocytosis with antithymocyte globulins: a single-center retrospective report of 38 patients. Pediatrics (2007) 1.60
Gene therapy: X-SCID transgene leukaemogenicity. Nature (2006) 1.57
Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome. Blood (2012) 1.56
Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). Blood (2010) 1.55
Inherited and somatic CD3zeta mutations in a patient with T-cell deficiency. N Engl J Med (2006) 1.54
Prediction of the general transcription factors associated with RNA polymerase II in Plasmodium falciparum: conserved features and differences relative to other eukaryotes. BMC Genomics (2005) 1.53
Primary hemophagocytic syndromes point to a direct link between lymphocyte cytotoxicity and homeostasis. Immunol Rev (2005) 1.52
X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options. Blood (2010) 1.51
Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency. Clin Immunol (2004) 1.51
Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations. J Clin Invest (2014) 1.50
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005. J Allergy Clin Immunol (2006) 1.46
Regulation of natural cytotoxicity by the adaptor SAP and the Src-related kinase Fyn. J Exp Med (2005) 1.46
Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV. Eur J Immunol (2006) 1.45
Neutralization of IFNgamma defeats haemophagocytosis in LCMV-infected perforin- and Rab27a-deficient mice. EMBO Mol Med (2009) 1.44
Defective IL10 signaling defining a subgroup of patients with inflammatory bowel disease. Am J Gastroenterol (2011) 1.43
The block in immunoglobulin class switch recombination caused by activation-induced cytidine deaminase deficiency occurs prior to the generation of DNA double strand breaks in switch mu region. J Immunol (2003) 1.43
A human immunodeficiency caused by mutations in the PIK3R1 gene. J Clin Invest (2014) 1.42
Gene therapy for severe combined immunodeficiency: are we there yet? J Clin Invest (2007) 1.42
A modified γ-retrovirus vector for X-linked severe combined immunodeficiency. N Engl J Med (2014) 1.42
Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients. Immunol Rev (2005) 1.42
Propionibacterium acnes chest infections in patients with chronic granulomatous disease: case reports. Clin Infect Dis (2002) 1.41
X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease. Blood (2010) 1.40
Hematopoietic stem cell transplantation in hemophagocytic lymphohistiocytosis: a single-center report of 48 patients. Pediatrics (2006) 1.39
Immunodeficiency due to mutations in ORAI1 and STIM1. Clin Immunol (2010) 1.39
Severe combined immunodeficiency. A model disease for molecular immunology and therapy. Immunol Rev (2005) 1.39
Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis. J Clin Invest (2003) 1.36
A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation. Blood (2011) 1.36
AIRE deficiency in thymus of 2 patients with Omenn syndrome. J Clin Invest (2005) 1.35