Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate
about
Enzymatic and structural insights for substrate specificity of a family of jumonji histone lysine demethylasesKDM7 is a dual demethylase for histone H3 Lys 9 and Lys 27 and functions in brain developmentA functional link between the histone demethylase PHF8 and the transcription factor ZNF711 in X-linked mental retardationPHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nepsilon-dimethyl lysine demethylaseA novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palateMendelian disorders of the epigenetic machinery: tipping the balance of chromatin statesCrystal structure of the PHF8 Jumonji domain, an Nepsilon-methyl lysine demethylaseStructural insights into a novel histone demethylase PHF8Crystal structure of the catalytic core of Saccharomyces cerevesiae histone demethylase Rph1: insights into the substrate specificity and catalytic mechanismStructural and Evolutionary Basis for the Dual Substrate Selectivity of Human KDM4 Histone Demethylase FamilyAnalysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHEScreening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palateInhibition of 2-oxoglutarate dependent oxygenasesErasing the methyl mark: histone demethylases at the center of cellular differentiation and diseasePhf8 loss confers resistance to depression-like and anxiety-like behaviors in miceX-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.From neural development to cognition: unexpected roles for chromatin.Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability.PHF8 and REST/NRSF co-occupy gene promoters to regulate proximal gene expressionCell-type-specific Jumonji histone demethylase gene expression in the healthy rat CNS: detection by a novel flow cytometry method.A photoreactive small-molecule probe for 2-oxoglutarate oxygenases.Chromatin proteins and modifications as drug targets.Chromatin and oxygen sensing in the context of JmjC histone demethylasesIdentification of catechols as histone-lysine demethylase inhibitors.An epigenetic perspective on the free radical theory of developmentX-linked genes and risk of orofacial clefts: evidence from two population-based studies in Scandinavia.Targeting histone lysine demethylases - progress, challenges, and the futureEfficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.The WNKs: atypical protein kinases with pleiotropic actions.Dysregulation of RNA polymerase I transcription during disease.Reversible histone methylation regulates brain gene expression and behavior.Development of substrate-selective probes for affinity pulldown of histone demethylases.Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34Oncogenic features of PHF8 histone demethylase in esophageal squamous cell carcinoma.Tak1, Smad4 and Trim33 redundantly mediate TGF-β3 signaling during palate development.Cyclin E-CDK2 protein phosphorylates plant homeodomain finger protein 8 (PHF8) and regulates its function in the cell cycle.Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.Increased expression of histone demethylase JHDM1D under nutrient starvation suppresses tumor growth via down-regulating angiogenesisKabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.Disrupted intricacy of histone H3K4 methylation in neurodevelopmental disorders.
P2860
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P2860
Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate
description
2005 nî lūn-bûn
@nan
2005 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Mutations in PHF8 are associat ...... ion and cleft lip/cleft palate
@ast
Mutations in PHF8 are associat ...... ion and cleft lip/cleft palate
@en
Mutations in PHF8 are associat ...... ion and cleft lip/cleft palate
@nl
type
label
Mutations in PHF8 are associat ...... ion and cleft lip/cleft palate
@ast
Mutations in PHF8 are associat ...... ion and cleft lip/cleft palate
@en
Mutations in PHF8 are associat ...... ion and cleft lip/cleft palate
@nl
prefLabel
Mutations in PHF8 are associat ...... ion and cleft lip/cleft palate
@ast
Mutations in PHF8 are associat ...... ion and cleft lip/cleft palate
@en
Mutations in PHF8 are associat ...... ion and cleft lip/cleft palate
@nl
P2093
P50
P356
P1476
Mutations in PHF8 are associat ...... ion and cleft lip/cleft palate
@en
P2093
B C J Hamel
C E Schwartz
F Faravelli
F Phan-Dinh Tuy
H Van Esch
H van Bokhoven
H-H Ropers
P356
10.1136/JMG.2004.029439
P407
P577
2005-10-01T00:00:00Z