Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate - Wikidata - wikimedia - TriplyDB

Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate

Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate

http://www.wikidata.org/entity/Q28238420

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Enzymatic and structural insights for substrate specificity of a family of jumonji histone lysine demethylases KDM7 is a dual demethylase for histone H3 Lys 9 and Lys 27 and functions in brain development A functional link between the histone demethylase PHF8 and the transcription factor ZNF711 in X-linked mental retardation PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nepsilon-dimethyl lysine demethylase Histone H4K20/H3K9 demethylase PHF8 regulates zebrafish brain and craniofacial development Crystal structure of the PHF8 Jumonji domain, an Nepsilon-methyl lysine demethylase Structural insights into a novel histone demethylase PHF8 Structural and Evolutionary Basis for the Dual Substrate Selectivity of Human KDM4 Histone Demethylase Family Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE Inhibition of 2-oxoglutarate dependent oxygenases Erasing the methyl mark: histone demethylases at the center of cellular differentiation and disease Phf8 loss confers resistance to depression-like and anxiety-like behaviors in mice From neural development to cognition: unexpected roles for chromatin.PHF8 and REST/NRSF co-occupy gene promoters to regulate proximal gene expression Mutation of a Nopp140 gene dao-5 alters rDNA transcription and increases germ cell apoptosis in C. elegans.Reversible histone methylation regulates brain gene expression and behavior.Disrupted intricacy of histone H3K4 methylation in neurodevelopmental disorders.The Histone Demethylase PHF8 Is Essential for Endothelial Cell Migration.Histone demethylases and cancer.The G2/M regulator histone demethylase PHF8 is targeted for degradation by the anaphase-promoting complex containing CDC20 Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.Plant homeodomain fingers form a helping hand for transcription.Structure and function of histone H3 lysine 9 methyltransferases and demethylases.Histone methylation in the nervous system: functions and dysfunctions.Genetic syndromes caused by mutations in epigenetic genes.Using C. elegans to decipher the cellular and molecular mechanisms underlying neurodevelopmental disorders.Histone lysine demethylases as targets for anticancer therapy.The roles of Jumonji-type oxygenases in human disease.Examining the impact of gene variants on histone lysine methylation Jumonji family histone demethylases in neural development.The histone demethylase PHF8 is a molecular safeguard of the IFNγ response.The histone demethylase PHF8 is essential for cytoskeleton dynamics.Histone Lysine Methylation and Neurodevelopmental Disorders.PHF8 targets histone methylation and RNA polymerase II to activate transcription.A Neuronal Activity-Dependent Dual Function Chromatin-Modifying Complex Regulates Arc Expression(1,2,3).The histone demethylase PHF8 promotes prostate cancer cell growth by activating the oncomiR miR-125b.The X-linked mental retardation gene PHF8 is a histone demethylase involved in neuronal differentiation.Phf8 histone demethylase deficiency causes cognitive impairments through the mTOR pathway.Plant Homeo Domain Finger Protein 8 Regulates Mesodermal and Cardiac Differentiation of Embryonic Stem Cells Through Mediating the Histone Demethylation of pmaip1.Systematic knockdown of epigenetic enzymes identifies a novel histone demethylase PHF8 overexpressed in prostate cancer with an impact on cell proliferation, migration and invasion

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Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate

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P2860

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate

X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3

JmjC-domain-containing proteins and histone demethylation

Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.

Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardation.

Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.

Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.

X-linked mental retardation

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