Three novel DNMT3B mutations in Japanese patients with ICF syndrome. - Wikidata - thesis-toulmin - TriplyDB

Three novel DNMT3B mutations in Japanese patients with ICF syndrome.

Three novel DNMT3B mutations in Japanese patients with ICF syndrome.

http://www.wikidata.org/entity/Q34150219

about

Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF)Solution structure of the PWWP domain of the hepatoma-derived growth factor family The PWWP domain of Dnmt3a and Dnmt3b is required for directing DNA methylation to the major satellite repeats at pericentric heterochromatin Identification of T-cadherin as a novel target of DNA methyltransferase 3B and its role in the suppression of nerve growth factor-mediated neurite outgrowth in PC12 cells Mechismo: predicting the mechanistic impact of mutations and modifications on molecular interactions.Mitotic phosphorylation activates hepatoma-derived growth factor as a mitogen.The Dnmt3a PWWP domain reads histone 3 lysine 36 trimethylation and guides DNA methylation.Molecular and enzymatic profiles of mammalian DNA methyltransferases: structures and targets for drugs.Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction DNMT3B mutations and DNA methylation defect define two types of ICF syndrome.Understanding the relationship between DNA methylation and histone lysine methylation.Perturbations of chromatin structure in human genetic disease: recent advances.ICF, an immunodeficiency syndrome: DNA methyltransferase 3B involvement, chromosome anomalies, and gene dysregulation Identification and characterization of PWWP domain residues critical for LEDGF/p75 chromatin binding and human immunodeficiency virus type 1 infectivity.Characterization of How DNA Modifications Affect DNA Binding by C2H2 Zinc Finger Proteins.Epigenetic mechanisms and therapeutic perspectives for neurodevelopmental disorders Epigenetics in congenital diseases and pervasive developmental disorders.Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.Sequence-specific microscopic visualization of DNA methylation status at satellite repeats in individual cell nuclei and chromosomes.Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib?Functions of DNA methyltransferase 3-like in germ cells and beyond.Epigenetics as a basis for diagnosis of neurodevelopmental disorders: challenges and opportunities.Understanding the epigenetics of neurodevelopmental disorders and DOHaD.Genetic alterations of DNA methylation machinery in human diseases.Genomic profiling of DNA methyltransferases reveals a role for DNMT3B in genic methylation.Domain Structure of the Dnmt1, Dnmt3a, and Dnmt3b DNA Methyltransferases.Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients.Cancer cells express aberrant DNMT3B transcripts encoding truncated proteins.Chromatin targeting of de novo DNA methyltransferases by the PWWP domain.Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey.RNAPol-ChIP analysis of transcription from FSHD-linked tandem repeats and satellite DNA.Endocrine complications in primary immunodeficiency diseases in Japan.ICF syndrome in Saudi Arabia: immunological, cytogenetic and molecular analysis.Regulation of DNA methylation activity through Dnmt3L promoter methylation by Dnmt3 enzymes in embryonic development.Obstructive heart defects associated with candidate genes, maternal obesity, and folic acid supplementation.

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P2860

Three novel DNMT3B mutations in Japanese patients with ICF syndrome.

http://www.wikidata.org/entity/Q34150219

description

2002 nî lūn-bûn

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2002 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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2002 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2002年の論文

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2002年論文

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2002年論文

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2002年論文

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2002年論文

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2002年論文

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2002年论文

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name

Three novel DNMT3B mutations in Japanese patients with ICF syndrome.

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Three novel DNMT3B mutations in Japanese patients with ICF syndrome.

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Three novel DNMT3B mutations in Japanese patients with ICF syndrome.

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type

label

Three novel DNMT3B mutations in Japanese patients with ICF syndrome.

@ast

Three novel DNMT3B mutations in Japanese patients with ICF syndrome.

@en

Three novel DNMT3B mutations in Japanese patients with ICF syndrome.

@nl

prefLabel

Three novel DNMT3B mutations in Japanese patients with ICF syndrome.

@ast

Three novel DNMT3B mutations in Japanese patients with ICF syndrome.

@en

Three novel DNMT3B mutations in Japanese patients with ICF syndrome.

@nl

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P1433

American Journal of Medical Genetics Part A

P1476

Three novel DNMT3B mutations in Japanese patients with ICF syndrome

@en

P2093

Azumi Kumazawa

http://www.w3.org/2001/XMLSchema#string

Hiroyuki Sasaki

http://www.w3.org/2001/XMLSchema#string

Hisao Shirohzu

http://www.w3.org/2001/XMLSchema#string

Isao Suetake

http://www.w3.org/2001/XMLSchema#string

Keiko Wakui

http://www.w3.org/2001/XMLSchema#string

Kouichi Inagaki

http://www.w3.org/2001/XMLSchema#string

Masatoshi Hayashi

http://www.w3.org/2001/XMLSchema#string

Shoji Tajima

http://www.w3.org/2001/XMLSchema#string

Takahito Chijiwa

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Takeo Kubota

http://www.w3.org/2001/XMLSchema#string

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

Genetic variation in ICF syndrome: evidence for genetic heterogeneity

Dnmt3a binds deacetylases and is recruited by a sequence-specific repressor to silence transcription

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

Expression of DNA methyltransferases DNMT1, 3A, and 3B in normal hematopoiesis and in acute and chronic myelogenous leukemia

The PWWP domain: a potential protein-protein interaction domain in nuclear proteins influencing differentiation?

Localization of the ICF syndrome to chromosome 20 by homozygosity mapping

Cytosine-specific type II DNA methyltransferases. A conserved enzyme core with variable target-recognizing domains.

ICF syndrome: a new case and review of the literature.

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31-37

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10.1002/AJMG.10658

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1

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112

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2002-09-01T00:00:00Z

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