Partial V(D)J recombination activity leads to Omenn syndrome (Q24336454)

GOA release 2020-03-11

immune response

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GOA release 2020-03-11

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F Bozzi

3

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Anna Villa

object named as

A Villa

1

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author name string

S Santagata

2

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S Giliani

4

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A Frattini

5

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L Imberti

6

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L B Gatta

7

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H D Ochs

8

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K Schwarz

9

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L D Notarangelo

10

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P Vezzoni

11

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E Spanopoulou

RAG1 and RAG2 form a stable postcleavage synaptic complex with DNA containing signal ends in V(D)J recombination

12

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language of work or name

English

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publication date

29 May 1998

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published in

Cell

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volume

93

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issue

5

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page(s)

885-96

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cites work

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Primordial emergence of the recombination activating gene 1 (RAG1): sequence of the complete shark gene indicates homology to microbial integrases

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Analysis of amplified T cell receptor V beta transcripts by a non-isotopic immunoassay

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Mechanism of V(D)J recombination

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V(D)J recombination in Ku86-deficient mice: distinct effects on coding, signal, and hybrid joint formation

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In vitro cell death of activated lymphocytes in Omenn's syndrome

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Increased radiosensitivity of granulocyte macrophage colony-forming units and skin fibroblasts in human autosomal recessive severe combined immunodeficiency

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CD30 cell expression and abnormal soluble CD30 serum accumulation in Omenn's syndrome: evidence for a T helper 2-mediated condition

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In vitro V(D)J recombination: signal joint formation

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Analysis of regions of RAG-2 important for V(D)J recombination

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Rescue of T cell-specific V(D)J recombination in SCID mice by DNA-damaging agents

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Restricted heterogeneity of T lymphocytes in combined immunodeficiency with hypereosinophilia (Omenn's syndrome).

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RAG1 mediates signal sequence recognition and recruitment of RAG2 in V(D)J recombination

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Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor

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Treatment of Omenn syndrome by bone marrow transplantation

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Activity of DNA ligase IV stimulated by complex formation with XRCC4 protein in mammalian cells

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Growth retardation and leaky SCID phenotype of Ku70-deficient mice.

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Development of CD4+CD8+ thymocytes in RAG-deficient mice through a T cell receptor beta chain-independent pathway

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V(D)J recombination activates a p53-dependent DNA damage checkpoint in scid lymphocyte precursors.

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Oligoclonal expansion of CD45RO+ T lymphocytes in Omenn syndrome

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A stable RAG1-RAG2-DNA complex that is active in V(D)J cleavage

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The effect of antigen dose on CD4+ T helper cell phenotype development in a T cell receptor-alpha beta-transgenic model

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Development of TH1 CD4+ T cells through IL-12 produced by Listeria-induced macrophages

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DNA double-strand break repair and V(D)J recombination: involvement of DNA-PK.

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Coding joint formation in a cell-free V(D)J recombination system

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The mechanism of V(D)J joining: lessons from molecular, immunological, and comparative analyses

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The defect in murine severe combined immune deficiency: joining of signal sequences but not coding segments in V(D)J recombination.

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Transient restoration of gene rearrangement at multiple T cell receptor loci in gamma-irradiated scid mice

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Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)

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Familial hemophagocytic lymphohistiocytosis associated with disseminated T-cell lymphoma: a report of two siblings

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Cleavage at a V(D)J recombination signal requires only RAG1 and RAG2 proteins and occurs in two steps.

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RAG-1-deficient mice have no mature B and T lymphocytes

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Genetic interaction between PARP and DNA-PK in V(D)J recombination and tumorigenesis

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Mutations in the p53 and SCID genes cooperate in tumorigenesis.

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Footprint analysis of the RAG protein recombination signal sequence complex for V(D)J type recombination.

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Requirement for Ku80 in growth and immunoglobulin V(D)J recombination

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RAG-1 and RAG-2, adjacent genes that synergistically activate V(D)J recombination

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Familial Reticuloendotheliosis with Eosinophilia

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Conservation of sequence in recombination signal sequence spacers

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Cell-free V(D)J recombination

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Genetic evidence that the RAG1 protein directly participates in V(D)J recombination through substrate recognition

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V(D)J recombination: broken DNA molecules with covalently sealed (hairpin) coding ends in scid mouse thymocytes

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Expression and V(D)J recombination activity of mutated RAG-1 proteins

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Definition of a core region of RAG-2 that is functional in V(D)J recombination

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T helper type 2-like cells and therapeutic effects of interferon-gamma in combined immunodeficiency with hypereosinophilia (Omenn's syndrome)

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The V(D)J recombination activating gene, RAG-1.

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RAG mutations in human B cell-negative SCID.

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RAG-2-deficient mice lack mature lymphocytes owing to inability to initiate V(D)J rearrangement

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Dispensable sequence motifs in the RAG-1 and RAG-2 genes for plasmid V(D)J recombination

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Assessment of T-cell receptor beta-chain diversity by heteroduplex analysis

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Localization, interaction, and RNA binding properties of the V(D)J recombination-activating proteins RAG1 and RAG2.

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The homeodomain region of Rag-1 reveals the parallel mechanisms of bacterial and V(D)J recombination

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Somatic generation of antibody diversity

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Initiation of V(D)J recombination in a cell-free system.

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V(D)J recombination: in vitro coding joint formation

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High resolution crystal structure of a paired (Pax) class cooperative homeodomain dimer on DNA

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Role of NK1.1+ T cells in a TH2 response and in immunoglobulin E production

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Ku86-deficient mice exhibit severe combined immunodeficiency and defective processing of V(D)J recombination intermediates

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Identifiers

DOI

1 reference

Consolidated OpenCitations Corpus – April 2017

1404390

1404390

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference