about
The ATRX-ADD domain binds to H3 tail peptides and reads the combined methylation state of K4 and K9ATRX directs binding of PRC2 to Xist RNA and Polycomb targetsFunctional proteomics establishes the interaction of SIRT7 with chromatin remodeling complexes and expands its role in regulation of RNA polymerase I transcriptionMendelian disorders of the epigenetic machinery: tipping the balance of chromatin statesTranscriptional coregulators: emerging roles of SRC family of coactivators in disease pathologyCharacterization of the Drosophila group ortholog to the amino-terminus of the alpha-thalassemia and mental retardation X-Linked (ATRX) vertebrate proteinATRX ADD domain links an atypical histone methylation recognition mechanism to human mental-retardation syndromeDistinct factors control histone variant H3.3 localization at specific genomic regionsDAXX/ATRX, MEN1, and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumorsComparative 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 functionMutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemiaLoss of ATRX in chondrocytes has minimal effects on skeletal developmentT-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 KoreaLoss 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 pathwaysThe 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 diseaseFunctional 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.
P2860
Q24297608-35A7DB63-C8C8-44DA-8B2B-36052305274FQ24307468-A6E3D917-7E58-4C10-AFE8-1EFF4D0E81A8Q24633178-929D7F40-9044-4BA1-A59A-110535B80E03Q26992084-A5948985-366E-43C0-977B-6D937ACCFF2CQ27030886-4C89B61D-E557-4F8A-B825-69B67212BB45Q27324576-944E28C1-1430-4E2A-905F-A3B1E1D9A04CQ27670417-7ECE8886-1B90-4E75-A73E-9CA3FEDD5D6FQ28275277-FD9729DE-F9AC-4A2C-949C-B41C499D4F52Q28303693-D9566830-36D3-4F48-BEB3-3A1ABF609169Q28742096-A108BAC5-BC3B-4524-971B-DCB6CF018CE2Q30432448-820FF4AE-AAA8-4D77-8944-61C729938E6DQ33506092-7EF9B799-E115-482B-B427-536B61F96F27Q34102788-14EF6F91-73BB-49DA-A444-E7D95375C7A5Q34431288-7D00A3BD-7308-4DB5-9F2E-DEF0F7545238Q34451861-1CD7487D-1186-4D5A-86FF-13B56DE834DBQ34490971-DAAF416B-8F38-46CA-9ACB-67BD0EE57F69Q34533223-7E84F09E-793E-47D7-AA3B-04C1F52BDBC2Q34649133-77A7F6C1-41CE-4435-B47B-0E8505A8240EQ35611065-6F648E54-1316-4BB9-B1C1-65E0F9E518D1Q35661042-98D0930C-01D9-481B-AD07-5901D0504546Q36163466-C041213A-89B9-4A63-9B3B-DB63793813F0Q36330302-3F521A31-ED22-44A4-82A6-770B2D5FDA36Q36599581-BEEB26C6-87E9-43BB-AF75-334A5DD59938Q37114117-20D4CFEF-87E3-40C0-B5C5-DB89E88D80F4Q37678322-480E516A-E8AC-43B2-86DB-51AE73295272Q37981593-3D776C39-1712-4391-83EA-EA604AF04319Q38210007-AD7FD5BF-20B5-4354-81F2-0A8394452741Q38662646-EEDB4D45-77E1-498D-BDAF-ACDACF38A914Q39071428-6E37B08E-C72F-4F10-A0B6-63D399C4C75EQ39127494-92F2D8DD-8E26-4926-B5A8-CBF1E2CD073FQ39199942-E35BB584-E926-44A3-8C9A-DF2B51B5E2D7Q39417639-15979B2F-90CF-49E3-B76E-D2762F5BBD64Q39906643-EC7005C7-092F-4091-B1C9-979D22BF840EQ39950903-1C58BB48-17DF-429B-95DC-6F21F5CAA1BEQ41551376-D2DB6618-0BD9-40A9-AFAC-70D1E75FD601Q41973131-C59526C6-B956-4627-B8E8-9B2C8A89B1D0Q42369808-7D0EF5B0-CAF8-49AD-8E36-183F95679260Q42758136-9E1377CD-78EB-430C-9FD6-B2098EDE3671Q44745198-00F90428-2092-4D7C-9ED2-36D2CA262668Q45222837-1693BDAD-AD04-4314-8967-EAAF8CE746B1
P2860
description
2008 nî lūn-bûn
@nan
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
P2093
P2860
P50
P356
P1433
P1476
Mutations in the chromatin-associated protein ATRX.
@en
P2093
Alan Fryer
Christopher A Fisher
David R Goudie
Ian D Krantz
Matthew J Mitson
Nicola Malik
Takahito Wada
P2860
P304
P356
10.1002/HUMU.20734
P577
2008-06-01T00:00:00Z