Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow.
about
The hSNM1 protein is a DNA 5'-exonucleaseRole of human Pso4 in mammalian DNA repair and association with terminal deoxynucleotidyl transferaseAtaxia-telangiectasia-mutated dependent phosphorylation of Artemis in response to DNA damage.DNA-PKcs dependence of Artemis endonucleolytic activity, differences between hairpins and 5' or 3' overhangs.ARTEMIS stabilizes the genome and modulates proliferative responses in multipotent mesenchymal cellsRadiosensitive severe combined immunodeficiency disease.A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.DNA double-strand break signaling and human disorders.Novel spontaneous deletion of artemis exons 10 and 11 in mice leads to T- and B-cell deficiencyFunctional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiencyThe role of the non-homologous end-joining pathway in lymphocyte development.Artemis sheds new light on V(D)J recombination.Preferential integration of adeno-associated virus type 2 into a polypyrimidine/polypurine-rich region within AAVS1.VDJ recombination: Artemis and its in vivo role in hairpin openingArtemis and p53 cooperate to suppress oncogenic N-myc amplification in progenitor B cells.The genetic basis of severe combined immunodeficiency and its variants.A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining.A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination.DNA double-strand break repair, immunodeficiency and the RIDDLE syndrome.Educational paper. The expanding clinical and immunological spectrum of severe combined immunodeficiency.DNA repair: the link between primary immunodeficiency and cancer.The spatial organization of non-homologous end joining: from bridging to end joining.Immunodeficiency in a Child with Rapadilino Syndrome: A Case Report and Review of the Literature.Severe combined immunodeficiency--an update.Mammalian SNM1 is required for genome stability.Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements.Significant changes in the composition of the precursor B-cell compartment in children less than 2 years old.Analysis of telomere length and function in radiosensitive mouse and human cells in response to DNA-PKcs inhibition.Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalities.Involvement of Artemis in nonhomologous end-joining during immunoglobulin class switch recombinationA hypomorphic Artemis human disease allele causes aberrant chromosomal rearrangements and tumorigenesis.Artemis splice defects cause atypical SCID and can be restored in vitro by an antisense oligonucleotide.DNA recombination defects in Kuwait: Clinical, immunologic and genetic profile.Autoinhibition of the Nuclease ARTEMIS Is Mediated by a Physical Interaction between Its Catalytic and C-terminal Domains.
P2860
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P2860
Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow.
description
2002 nî lūn-bûn
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2002 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2002年の論文
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2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
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name
Radiosensitive SCID patients w ...... tor checkpoint in bone marrow.
@ast
Radiosensitive SCID patients w ...... tor checkpoint in bone marrow.
@en
Radiosensitive SCID patients w ...... tor checkpoint in bone marrow.
@nl
type
label
Radiosensitive SCID patients w ...... tor checkpoint in bone marrow.
@ast
Radiosensitive SCID patients w ...... tor checkpoint in bone marrow.
@en
Radiosensitive SCID patients w ...... tor checkpoint in bone marrow.
@nl
prefLabel
Radiosensitive SCID patients w ...... tor checkpoint in bone marrow.
@ast
Radiosensitive SCID patients w ...... tor checkpoint in bone marrow.
@en
Radiosensitive SCID patients w ...... tor checkpoint in bone marrow.
@nl
P2093
P1433
P1476
Radiosensitive SCID patients w ...... ptor checkpoint in bone marrow
@en
P2093
Corry M R Weemaes
Dik C van Gent
Jaak M J J Vossen
Lieneke R van Veelen
Malgorzata Z Zdzienicka
Mirjam van der Burg
Nicole S Verkaik
Ronald de Groot
Sandra de Bruin-Versteeg
Wouter Wiegant
P304
P356
10.1182/BLOOD-2002-01-0187
P407
P577
2002-10-24T00:00:00Z