A human severe combined immunodeficiency (SCID) condition with increased sensitivity to ionizing radiations and impaired V(D)J rearrangements defines a new DNA recombination/repair deficiency.
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Nonhomologous end joining and V(D)J recombination require an additional factorPartial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in ArtemisDNA cross-link repair protein SNM1A interacts with PIAS1 in nuclear focus formationArtemis is a phosphorylation target of ATM and ATR and is involved in the G2/M DNA damage checkpoint responseThe metallo-beta-lactamase/beta-CASP domain of Artemis constitutes the catalytic core for V(D)J recombinationHuman adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafnessPhosphorylation of Artemis following irradiation-induced DNA damage.Processing and joining of DNA ends coordinated by interactions among Dnl4/Lif1, Pol4, and FEN-1.Human RAG mutations: biochemistry and clinical implicationsSingle nucleotide polymorphisms in DNA repair genes and prostate cancer riskDefective DNA repair and increased genomic instability in Artemis-deficient murine cellsImmunodeficiency associated with DNA repair defects.The multifunctional SNM1 gene family: not just nucleasesRadiosensitive severe combined immunodeficiency disease.Snm1-deficient mice exhibit accelerated tumorigenesis and susceptibility to infection.A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.Mechanisms of double-strand break repair in somatic mammalian cells.The role of DNA breaks in genomic instability and tumorigenesis.V(D)J recombination.The role of the non-homologous end-joining pathway in lymphocyte development.Artemis sheds new light on V(D)J recombination.A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair.VDJ recombination: Artemis and its in vivo role in hairpin openingThe genetic basis of severe combined immunodeficiency and its variants.V(D)J and immunoglobulin class switch recombinations: a paradigm to study the regulation of DNA end-joining.Different DNA End Configurations Dictate Which NHEJ Components Are Most Important for Joining Efficiency.Cellular radiosensitivity: how much better do we understand it?Resolution of complex ends by Nonhomologous end joining - better to be lucky than good?Congenital defects in V(D)J recombination.Artemis links ATM to G2/M checkpoint recovery via regulation of Cdk1-cyclin B.Primary immunodeficiency diseases: dissectors of the immune system.Complete arrest from pro- to pre-B cells in a case of B cell-negative severe combined immunodeficiency (SCID) without recombinase activating gene (RAG) mutations.Three-dimensional clustering of human RAG2 gene mutations in severe combined immune deficiency.The RAG recombinase dictates functional heterogeneity and cellular fitness in natural killer cells.Bone marrow transplantation for T-B- severe combined immunodeficiency disease in Athabascan-speaking native Americans.The PARP-1 inhibitor Olaparib suppresses BRCA1 protein levels, increases apoptosis and causes radiation hypersensitivity in BRCA1+/- lymphoblastoid cells.Breaking the seal
P2860
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P2860
A human severe combined immunodeficiency (SCID) condition with increased sensitivity to ionizing radiations and impaired V(D)J rearrangements defines a new DNA recombination/repair deficiency.
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年学术文章
@wuu
1998年学术文章
@zh-cn
1998年学术文章
@zh-hans
1998年学术文章
@zh-my
1998年学术文章
@zh-sg
1998年學術文章
@yue
1998年學術文章
@zh
1998年學術文章
@zh-hant
name
A human severe combined immuno ...... combination/repair deficiency.
@ast
A human severe combined immuno ...... combination/repair deficiency.
@en
type
label
A human severe combined immuno ...... combination/repair deficiency.
@ast
A human severe combined immuno ...... combination/repair deficiency.
@en
prefLabel
A human severe combined immuno ...... combination/repair deficiency.
@ast
A human severe combined immuno ...... combination/repair deficiency.
@en
P2093
P2860
P50
P356
P1476
A human severe combined immuno ...... combination/repair deficiency.
@en
P2093
D Papadopoulo
F Le Deist
J P de Villartay
R de Chasseval
P2860
P304
P356
10.1084/JEM.188.4.627
P407
P577
1998-08-01T00:00:00Z