PRKDC mutations in a SCID patient with profound neurological abnormalities. - Test2 - elhamkhani - TriplyDB

PRKDC mutations in a SCID patient with profound neurological abnormalities.

PRKDC mutations in a SCID patient with profound neurological abnormalities.

http://www.wikidata.org/entity/Q38955848

about

Newly recognized Mendelian disorders with rheumatic manifestations Mutations in the NHEJ component XRCC4 cause primordial dwarfism Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability Evaluation of Severe Combined Immunodeficiency and Combined Immunodeficiency Pediatric Patients on the Basis of Cellular Radiosensitivity.Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.Differential role of nonhomologous end joining factors in the generation, DNA damage response, and myeloid differentiation of human induced pluripotent stem cells.Non-homologous end joining: emerging themes and unanswered questions.Maintaining genome stability in the nervous system.Non-homologous end joining: Common interaction sites and exchange of multiple factors in the DNA repair process.The catalytic subunit of DNA-dependent protein kinase is required for cellular resistance to oxidative stress independent of DNA double-strand break repair.PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity.Radiation-sensitive severe combined immunodeficiency: The arguments for and against conditioning before hematopoietic cell transplantation--what to do?Restoration of ATM Expression in DNA-PKcs-Deficient Cells Inhibits Signal End Joining.A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.DNA-PKcs, ATM, and ATR Interplay Maintains Genome Integrity during Neurogenesis.DNA-PKcs is required to maintain stability of Chk1 and Claspin for optimal replication stress response Kruppel-associated box (KRAB) proteins in the adaptive immune system.Congenital defects in V(D)J recombination.Severe combined immunodeficiency--an update.Programmed DNA breaks in lymphoid cells: repair mechanisms and consequences in human disease Personalised Medicine: Genome Maintenance Lessons Learned from Studies in Yeast as a Model Organism.The Role of the Core Non-Homologous End Joining Factors in Carcinogenesis and Cancer.Mutations in XRCC4 cause primordial dwarfism without causing immunodeficiency.Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders.XLF deficiency results in reduced N-nucleotide addition during V(D)J recombination.Unraveling the complexities of DNA-dependent protein kinase autophosphorylation.A rapid, comprehensive system for assaying DNA repair activity and cytotoxic effects of DNA-damaging reagents.DNA-dependent protein kinase inhibition blocks asthma in mice and modulates human endothelial and CD4⁺ T-cell function without causing severe combined immunodeficiency.Lymphopoiesis in transgenic mice over-expressing Artemis.Regulation of the DNA Damage Response by DNA-PKcs Inhibitory Phosphorylation of ATM.Molecular Evidence of Genome Editing in a Mouse Model of Immunodeficiency.Oxidative damage and DNA damage in lungs of an ovalbumin-induced asthmatic murine model

P2860

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P2860

PRKDC mutations in a SCID patient with profound neurological abnormalities.

http://www.wikidata.org/entity/Q38955848

description

2013 nî lūn-bûn

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2013年の論文

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2013年論文

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2013年論文

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2013年論文

@zh-hk

2013年論文

@zh-mo

2013年論文

@zh-tw

2013年论文

@wuu

2013年论文

@zh

2013年论文

@zh-cn

name

PRKDC mutations in a SCID patient with profound neurological abnormalities.

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type

label

PRKDC mutations in a SCID patient with profound neurological abnormalities.

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prefLabel

PRKDC mutations in a SCID patient with profound neurological abnormalities.

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P1433

Journal of Clinical Investigation

P1476

PRKDC mutations in a SCID patient with profound neurological abnormalities.

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P2093

E Graham Davies

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Helen Coleman

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Jessica A Neal

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Karen Deem

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Katheryn Meek

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Lisa Woodbine

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Mayuko Shimada

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Penny A Jeggo

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P2860

Hairpin opening and overhang processing by an Artemis/DNA-dependent protein kinase complex in nonhomologous end joining and V(D)J recombination

Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly

DNA-dependent protein kinase catalytic subunit: a relative of phosphatidylinositol 3-kinase and the ataxia telangiectasia gene product

Nonhomologous end joining and V(D)J recombination require an additional factor

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

XLF-Cernunnos promotes DNA ligase IV-XRCC4 re-adenylation following ligation

Lymphocyte-specific compensation for XLF/cernunnos end-joining functions in V(D)J recombination

Autophosphorylation of the catalytic subunit of the DNA-dependent protein kinase is required for efficient end processing during DNA double-strand break repair.

A pathway of double-strand break rejoining dependent upon ATM, Artemis, and proteins locating to gamma-H2AX foci.

The catalytic subunit of DNA-dependent protein kinase regulates proliferation, telomere length, and genomic stability in human somatic cells

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2969-2980

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10.1172/JCI67349

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7

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123

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William B. Dobyns

Nanda-Kumar Sasi

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2013-06-03T00:00:00Z

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23722905

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3999051

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