Mutations in the chromatin-associated protein ATRX. - Wikidata - awgldk - TriplyDB

Mutations in the chromatin-associated protein ATRX.

Mutations in the chromatin-associated protein ATRX.

http://www.wikidata.org/entity/Q51891945

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The ATRX-ADD domain binds to H3 tail peptides and reads the combined methylation state of K4 and K9 ATRX directs binding of PRC2 to Xist RNA and Polycomb targets Functional proteomics establishes the interaction of SIRT7 with chromatin remodeling complexes and expands its role in regulation of RNA polymerase I transcription Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states Transcriptional coregulators: emerging roles of SRC family of coactivators in disease pathology Characterization of the Drosophila group ortholog to the amino-terminus of the alpha-thalassemia and mental retardation X-Linked (ATRX) vertebrate protein ATRX ADD domain links an atypical histone methylation recognition mechanism to human mental-retardation syndrome Distinct factors control histone variant H3.3 localization at specific genomic regions DAXX/ATRX, MEN1, and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumors Comparative analysis of the ATRX promoter and 5' regulatory region reveals conserved regulatory elements which are linked to roles in neurodevelopment, alpha-globin regulation and testicular function Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia Loss of ATRX in chondrocytes has minimal effects on skeletal development T-cell acute lymphoblastic leukemia in association with Börjeson-Forssman-Lehmann syndrome due to a mutation in PHF6.Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.The first case of X-linked Alpha-thalassemia/mental retardation (ATR-X) syndrome in Korea Loss of wild-type ATRX expression in somatic cell hybrids segregates with activation of Alternative Lengthening of Telomeres.Loss of Atrx sensitizes cells to DNA damaging agents through p53-mediated death pathways The role of genetics in the establishment and maintenance of the epigenome.ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31).Role of ATRX in chromatin structure and function: implications for chromosome instability and human disease Functional proteomics establishes the interaction of SIRT7 with chromatin remodeling complexes and expands its role in regulation of RNA polymerase I transcription.α-Thalassemia, mental retardation, and myelodysplastic syndrome.Chromatin deregulation in disease.Distal Xq duplication and functional Xq disomy.Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel.Genetic variation in the epigenetic machinery and mental health.Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).Emerging roles of ATRX in cancer.ATRX and DAXX: Mechanisms and Mutations.Constitutional Epi/Genetic Conditions: Genetic, Epigenetic, and Environmental Factors.A novel missense mutation in ATRX uncovered in a Yemeni family leads to alpha-thalassemia/mental retardation syndrome without alpha-thalassemia.Neuroradiologic features in X-linked α-thalassemia/mental retardation syndrome.Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.Epigenetic dysregulation in cancer.ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing.Syndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of ATRX.The Role of ATRX in Glioma Biology.Mouse ES cells overexpressing DNMT1 produce abnormal neurons with upregulated NMDA/NR1 subunit.Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome.GATA3 mutations found in breast cancers may be associated with aberrant nuclear localization, reduced transactivation and cell invasiveness.

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P2860

Mutations in the chromatin-associated protein ATRX.

http://www.wikidata.org/entity/Q51891945

description

2008 nî lūn-bûn

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2008年の論文

@ja

2008年学术文章

@wuu

2008年学术文章

@zh

2008年学术文章

@zh-cn

2008年学术文章

@zh-hans

2008年学术文章

@zh-my

2008年学术文章

@zh-sg

2008年學術文章

@yue

2008年學術文章

@zh-hant

name

Mutations in the chromatin-associated protein ATRX.

@en

Mutations in the chromatin-associated protein ATRX.

@nl

type

label

Mutations in the chromatin-associated protein ATRX.

@en

Mutations in the chromatin-associated protein ATRX.

@nl

prefLabel

Mutations in the chromatin-associated protein ATRX.

@en

Mutations in the chromatin-associated protein ATRX.

@nl

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P1476

Mutations in the chromatin-associated protein ATRX.

@en

P2093

Alan Fryer

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

Christopher A Fisher

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

David R Goudie

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

Ian D Krantz

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

Matthew J Mitson

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

Nicola Malik

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

Takahito Wada

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

P2860

Epigenetic regulation of mammalian pericentric heterochromatin in vivo by HP1.

ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.

Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked alpha-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X.

P304

796-802

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

P31

scholarly article

P356

10.1002/HUMU.20734

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P433

6

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P478

29

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Richard J Gibbons

David P. Steensma

Jan Traeger-Synodinos

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2008-06-01T00:00:00Z

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P5875

5443831

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P698

18409179

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