Hematopoietic stem cell dysfunction underlies the progressive lymphocytopenia in XLF/Cernunnos deficiency
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XRCC4/XLF Interaction Is Variably Required for DNA Repair and Is Not Required for Ligase IV StimulationA nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly.PAXX promotes KU accumulation at DNA breaks and is essential for end-joining in XLF-deficient mice.Genome instability of ageing stem cells--Induction and defence mechanismsLoss of NHEJ1 Protein Due to a Novel Splice Site Mutation in a Family Presenting with Combined Immunodeficiency, Microcephaly, and Growth Retardation and Literature Review.Recent advances in the study of immunodeficiency and DNA damage response.XLF deficiency results in reduced N-nucleotide addition during V(D)J recombination.Mutations in XLF/NHEJ1/Cernunnos gene results in downregulation of telomerase genes expression and telomere shortening.
P2860
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P2860
Hematopoietic stem cell dysfunction underlies the progressive lymphocytopenia in XLF/Cernunnos deficiency
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2014 nî lūn-bûn
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2014 թուականի Յուլիսին հրատարակուած գիտական յօդուած
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2014 թվականի հուլիսին հրատարակված գիտական հոդված
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2014年の論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年论文
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Hematopoietic stem cell dysfun ...... ia in XLF/Cernunnos deficiency
@ast
Hematopoietic stem cell dysfun ...... ia in XLF/Cernunnos deficiency
@en
Hematopoietic stem cell dysfun ...... ia in XLF/Cernunnos deficiency
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type
label
Hematopoietic stem cell dysfun ...... ia in XLF/Cernunnos deficiency
@ast
Hematopoietic stem cell dysfun ...... ia in XLF/Cernunnos deficiency
@en
Hematopoietic stem cell dysfun ...... ia in XLF/Cernunnos deficiency
@nl
prefLabel
Hematopoietic stem cell dysfun ...... ia in XLF/Cernunnos deficiency
@ast
Hematopoietic stem cell dysfun ...... ia in XLF/Cernunnos deficiency
@en
Hematopoietic stem cell dysfun ...... ia in XLF/Cernunnos deficiency
@nl
P2093
P2860
P1433
P1476
Hematopoietic stem cell dysfun ...... ia in XLF/Cernunnos deficiency
@en
P2093
Brian J Lee
Jennifer L Crowe
Kenta Yamamoto
Serine Avagyan
Siddhartha Mukherjee
Tian Zheng
P2860
P304
P356
10.1182/BLOOD-2014-05-574863
P407
P577
2014-07-29T00:00:00Z