Varaico: Literature-Extracted Genetic Variants

Gene:PHF8
Variant:p.F279S
Back to variants list

PHF8

NM_015107.3:p.F279S

Associated Papers

PHF8/KDM7B: A Versatile Histone Demethylase and Epigenetic Modifier in Nervous System Disease and Cancers.

Fan T et al.

Epigenomes, 2024

Functional Characterization of a Phf8 Processed Pseudogene in the Mouse Genome.

St-Germain J et al.

Genes, 2023

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology.

Sobering AK et al.

Hgg Advances, 2022

Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders.

Poeta L et al.

Human Molecular Genetics, 2019

MicroRNA-655-3p and microRNA-497-5p inhibit cell proliferation in cultured human lip cells through the regulation of genes related to human cleft lip.

Gajera M et al.

Bmc Medical Genomics, 2019

31122291 (PubMed )
Supplement: 12920_2019_535_MOESM1_ESM.zip › 3_Human_Cleft_Lip__Table_S3__Significant_R2.xlsx › Single_Gene_Significant

Conformational Dynamics Underlies Different Functions of Human KDM7 Histone Demethylases.

Chaturvedi SS et al.

Chemistry (weinheim an Der Bergstrasse, Germany), 2019

JMJD-1.2/PHF8 controls axon guidance by regulating Hedgehog-like signaling.

Riveiro AR et al.

Development (cambridge, England), 2017

NOTCH1 nuclear interactome reveals key regulators of its transcriptional activity and oncogenic function.

Yatim A et al.

Molecular Cell, 2012

Plant homeodomain fingers form a helping hand for transcription.

Fortschegger K et al.

Epigenetics, 2011

The X-linked mental retardation gene PHF8 is a histone demethylase involved in neuronal differentiation.

Qiu J et al.

Cell Research, 2010

Histone H4K20/H3K9 demethylase PHF8 regulates zebrafish brain and craniofacial development.

Qi HH et al.

Nature, 2010

A functional link between the histone demethylase PHF8 and the transcription factor ZNF711 in X-linked mental retardation.

Kleine-Kohlbrecher D et al.

Molecular Cell, 2010

PHF8 activates transcription of rRNA genes through H3K4me3 binding and H3K9me1/2 demethylation.

Feng W et al.

Nature Structural & Molecular Biology, 2010

Structural insights into a novel histone demethylase PHF8.

Yu L et al.

Cell Research, 2010

PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nepsilon-dimethyl lysine demethylase.

Loenarz C et al.

Human Molecular Genetics, 2010

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

Koivisto AM et al.

Clinical Genetics, 2007

A Neuronal Activity-Dependent Dual Function Chromatin-Modifying Complex Regulates Arc Expression

Oey NE et al.

Eneuro, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."