Varaico: Literature-Extracted Genetic Variants

Gene:HSF4
Variant:p.R116H
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HSF4

NM_001374675.1:p.R116H

Associated Papers

Generation of Lens Progenitor Cells and Lentoid Bodies from Pluripotent Stem Cells: Novel Tools for Human Lens Development and Ocular Disease Etiology.

Cvekl A et al.

Cells, 2022

Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq.

Gao J et al.

International Journal of Molecular Sciences, 2020

32344918 (PubMed )
Supplement: ijms-21-03040-s001.zip › Supplementary_Data › Supplementary_Data_2.xlsx › S_Data_2

Structural analysis of missense mutations occurring in the DNA-binding domain of HSF4 associated with congenital cataracts.

Xiao Z et al.

Journal of Structural Biology: X, 2020

Transcriptional profiling of single fiber cells in a transgenic paradigm of an inherited childhood cataract reveals absence of molecular heterogeneity.

Bhat SP et al.

The Journal of Biological Chemistry, 2019

Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.

Anand D et al.

Human Mutation, 2018

HSF4 regulates lens fiber cell differentiation by activating p53 and its downstream regulators.

Gao M et al.

Cell Death & Disease, 2017

Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families.

Zhai Y et al.

Scientific Reports, 2017

28450710 (PubMed )
Supplement: 41598_2017_1182_MOESM1_ESM.pdf

Genetics of Congenital Cataract.

Pichi F et al.

Developments in Ophthalmology, 2016

HSF4 promotes G1/S arrest in human lens epithelial cells by stabilizing p53.

Huang M et al.

Biochimica Et Biophysica Acta, 2015

HSF4 mutation p.Arg116His found in age-related cataracts and in normal populations produces childhood lamellar cataract in transgenic mice.

Jing Z et al.

Human Mutation, 2014

A R54L mutation of CRYAA associated with autosomal dominant nuclear cataracts in a Chinese family.

Yang Z et al.

Current Eye Research, 2013

Clinical and experimental advances in congenital and paediatric cataracts.

Churchill A et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2011

Mutation screening of HSF4 in 150 age-related cataract patients.

Shi Y et al.

Molecular Vision, 2008

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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."