Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome
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A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF).Lsh/HELLS regulates self-renewal/proliferation of neural stem/progenitor cells.The LSH/HELLS homolog Irc5 contributes to cohesin association with chromatin in yeastLateral cortical Cdca7 expression levels are regulated by Pax6 and influence the production of intermediate progenitorsThe SNF2 family ATPase LSH promotes cell-autonomous de novo DNA methylation in somatic cells.Downregulation of ZBTB24 hampers the G0/1- to S-phase cell-cycle transition via upregulating the expression of IRF-4 in human B cells.Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2.Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey.Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndromeConverging disease genes in ICF syndrome: ZBTB24 controls expression of CDCA7 in mammals.HELLS and CDCA7 comprise a bipartite nucleosome remodeling complex defective in ICF syndrome.Baicalin hydrate inhibits cancer progression in nasopharyngeal carcinoma by affecting genome instability and splicing.The DNA methyltransferase family: a versatile toolkit for epigenetic regulation.Novel ZBTB24 Mutation Associated with Immunodeficiency, Centromere Instability, and Facial Anomalies Type-2 Syndrome Identified in a Patient with Very Early Onset Inflammatory Bowel Disease.Tethering of Lsh at the Oct4 locus promotes gene repression associated with epigenetic changes.Contrasting epigenetic states of heterochromatin in the different types of mouse pluripotent stem cells.Vesicourethral reflux-induced renal failure in a patient with ICF syndrome due to a novel DNMT3B mutation.The dark side of centromeres: types, causes and consequences of structural abnormalities implicating centromeric DNACDCA7 is a critical mediator of lymphomagenesis that selectively regulates anchorage-independent growth
P2860
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P2860
Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome
description
2015 nî lūn-bûn
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年论文
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2015年论文
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2015年论文
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name
Mutations in CDCA7 and HELLS c ...... lity-facial anomalies syndrome
@ast
Mutations in CDCA7 and HELLS c ...... lity-facial anomalies syndrome
@en
type
label
Mutations in CDCA7 and HELLS c ...... lity-facial anomalies syndrome
@ast
Mutations in CDCA7 and HELLS c ...... lity-facial anomalies syndrome
@en
prefLabel
Mutations in CDCA7 and HELLS c ...... lity-facial anomalies syndrome
@ast
Mutations in CDCA7 and HELLS c ...... lity-facial anomalies syndrome
@en
P2093
P2860
P50
P356
P1476
Mutations in CDCA7 and HELLS c ...... lity-facial anomalies syndrome
@en
P2093
Andrew Gennery
Barbara Kloeckener-Gruissem
Bertrand Roquelaure
Corry Weemaes
Giacomo Grillo
Guillaume Velasco
Hirohisa Nitta
Hiroyuki Sasaki
Ikuko Kondo
Ismail Reisli
P2860
P2888
P356
10.1038/NCOMMS8870
P407
P577
2015-07-28T00:00:00Z