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Hairpin Opening and Overhang Processing by an Artemis/DNA-Dependent Protein Kinase Complex in Nonhomologous End Joining and V(D)J Recombination
Mutations in the Artemis protein in humans result in hypersensitivity to DNA double-strand break-inducing agents and absence of B and T lymphocytes (radiosensitive severe combined immune deficiencyExpand
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Regulated expression of nuclear receptor RORγt confers distinct functional fates to NK cell receptor-expressing RORγt(+) innate lymphocytes.
Whether the recently identified innate lymphocyte population coexpressing natural killer cell receptors (NKRs) and the nuclear receptor RORγt is part of the NK or lymphoid tissue inducer (LTi) cellExpand
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Mechanism and regulation of human non-homologous DNA end-joining
Non-homologous DNA end-joining (NHEJ) — the main pathway for repairing double-stranded DNA breaks — functions throughout the cell cycle to repair such lesions. Defects in NHEJ result in markedExpand
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The DNA-dependent Protein Kinase Catalytic Subunit Phosphorylation Sites in Human Artemis*
Artemis protein has irreplaceable functions in V(D)J recombination and nonhomologous end joining (NHEJ) as a hairpin and 5′ and 3′ overhang endonuclease. The kinase activity of the DNA-dependentExpand
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RAG Mutations in Human B Cell-Negative SCID
Patients with human severe combined immunodeficiency (SCID) can be divided into those with B lymphocytes (B+ SCID) and those without (B− SCID). Although several genetic causes are known for B+ SCID,Expand
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Functional and biochemical dissection of the structure‐specific nuclease ARTEMIS
During V(D)J recombination, the RAG1 and RAG2 proteins form a complex and initiate the process of rearrangement by cleaving between the coding and signal segments and generating hairpins at theExpand
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Omenn syndrome due to ARTEMIS mutations.
Omenn syndrome (OS) is characterized by severe combined immunodeficiency (SCID) associated with erythrodermia, hepatosplenomegaly, lymphadenopathy, and alopecia. In patients with OS, B cells areExpand
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Length-dependent Binding of Human XLF to DNA and Stimulation of XRCC4·DNA Ligase IV Activity*
An XRCC4-like factor, called XLF or Cernunnos, was recently identified as another important factor in the non-homologous DNA end joining (NHEJ) process. NHEJ is the major pathway for the repair ofExpand
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The Polarization Defect of Wiskott-Aldrich Syndrome Macrophages Is Linked to Dislocalization of the Arp2/3 Complex1
Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder originally characterized by the clinical triad eczema, thrombocytopenia, and severe immunodeficieny, with recurrent bacterial andExpand
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Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II
Congenital dyserythropoietic anemias (CDAs) are phenotypically and genotypically heterogeneous diseases. CDA type II (CDAII) is the most frequent CDA. It is characterized by ineffectiveExpand
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