Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF) - Wikidata - wikimedia - TriplyDB

Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF)

Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF)

http://www.wikidata.org/entity/Q21203047

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Modulation of Dnmt3b function in vitro by interactions with Dnmt3L, Dnmt3a and Dnmt3b splice variants A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF).Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology.Hematopoietic Stem Cell Transplantation in an Infant with Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome.Educational paper: syndromic forms of primary immunodeficiency Genome-Wide DNA Methylation Analysis Identifies Novel Hypomethylated Non-Pericentromeric Genes with Potential Clinical Implications in ICF Syndrome.Recurrent genomic instability of chromosome 1q in neural derivatives of human embryonic stem cells.DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations.2'-Deoxyriboguanylurea, the primary breakdown product of 5-aza-2'-deoxyribocytidine, is a mutagen, an epimutagen, an inhibitor of DNA methyltransferases and an inducer of 5-azacytidine-type fragile sites.ICF, an immunodeficiency syndrome: DNA methyltransferase 3B involvement, chromosome anomalies, and gene dysregulation Chromatin assembly: Journey to the CENter of the chromosome DNA methylation in development and human disease DNMT3B interacts with constitutive centromere protein CENP-C to modulate DNA methylation and the histone code at centromeric regions.A novel DNMT3B splice variant expressed in tumor and pluripotent cells modulates genomic DNA methylation patterns and displays altered DNA binding.Primary immunodeficiency diseases associated with neurologic manifestations.Non-coding RNAs in chromatin disease involving neurological defects DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function.Downregulation of ZBTB24 hampers the G0/1- to S-phase cell-cycle transition via upregulating the expression of IRF-4 in human B cells.Linking DNA methyltransferases to epigenetic marks and nucleosome structure genome-wide in human tumor cells.Genome-wide methylation analysis of DNMT3B gene isoforms revealed specific methylation profiles in breast cell lines.TERRA, CpG methylation and telomere heterochromatin: lessons from ICF syndrome cells.A role for CTCF and cohesin in subtelomere chromatin organization, TERRA transcription, and telomere end protection.Immunodeficiency, centromeric region instability and facial anomalies (ICF) syndrome diagnosed in an adult who is now a long-term survivor A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.ICF syndrome in Saudi Arabia: immunological, cytogenetic and molecular analysis.DNA (cytosine-5)-methyltransferase 3B (DNMT 3B) polymorphism and risk of Down syndrome offspring.Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings.Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities.HELLS and CDCA7 comprise a bipartite nucleosome remodeling complex defective in ICF syndrome.Non-random length distribution of individual telomeres in immunodeficiency, centromeric instability and facial anomalies syndrome, type I.The DNA methyltransferase family: a versatile toolkit for epigenetic regulation.Identification of a novel leukemic-specific splice variant of DNMT3B and its stability.Neurological Manifestations of Primary Immunodeficiencies

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Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF)

http://www.wikidata.org/entity/Q21203047

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2006 nî lūn-bûn

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2006 թուականի Մարտին հրատարակուած գիտական յօդուած

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2006 թվականի մարտին հրատարակված գիտական հոդված

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2006年の論文

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Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF)

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Corry Weemaes

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Kelly Jackson

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P2860

DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development

Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene

Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation

Genetic variation in ICF syndrome: evidence for genetic heterogeneity

Dnmt3b, de novo DNA methyltransferase, interacts with SUMO-1 and Ubc9 through its N-terminal region and is subject to modification by SUMO-1

Co-operation and communication between the human maintenance and de novo DNA (cytosine-5) methyltransferases

The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome

Molecular enzymology of the catalytic domains of the Dnmt3a and Dnmt3b DNA methyltransferases

Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy

Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome.

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