Associated Papers
A novel missense mutation in the HSF4 gene of giant pandas with senile congenital cataracts.
You Y et al.
Scientific Reports, 2021
Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family.
Li B et al.
Journal of Ophthalmology, 2020
Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes.
Reis LM et al.
Human Genetics, 2019
Mutation screening of crystallin genes in Chinese families with congenital cataracts.
Zhuang J et al.
Molecular Vision, 2019
Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family.
Jiao X et al.
Plos One, 2019
Novel mutations in HSF4 cause congenital cataracts in Chinese families.
Cao Z et al.
Bmc Medical Genetics, 2018
A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family.
Berry V et al.
Eye (london, England), 2018
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
A novel homozygous mutation in HSF4 causing autosomal recessive congenital cataract.
Behnam M et al.
Journal of Human Genetics, 2016
A novel HSF4 mutation in a Chinese family with autosomal dominant congenital cataract.
Liu L et al.
Journal of Huazhong University of Science and Technology. Medical Sciences = Hua Zhong Ke Ji Da Xue Xue Bao. Yi Xue Ying De Wen Ban = Huazhong Keji Daxue Xuebao. Yixue Yingdewen Ban, 2015
The use of autozygosity mapping and next-generation sequencing in understanding anterior segment defects caused by an abnormal development of the lens.
Gillespie RL et al.
Human Heredity, 2014
Functional analysis of HSF4 mutations found in patients with autosomal recessive congenital cataracts.
Merath K et al.
Investigative Ophthalmology & Visual Science, 2013
[Gene mapping and mutation detection in a family with congenital anterior polar cataract].
Zhang L et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2011
A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan.
Sajjad N et al.
Bmc Medical Genetics, 2008
[Study of genetic mutation locus in a family with congenital aniridia].
Cong RC et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2006
Novel HSF4 mutation causes congenital total white cataract in a Chinese family.
Ke T et al.
American Journal of Ophthalmology, 2006
Early transposable element insertion in intron 9 of the Hsf4 gene results in autosomal recessive cataracts in lop11 and ldis1 mice.
Talamas E et al.
Genomics, 2006
Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations.
Forshew T et al.
Human Genetics, 2005
[The blood galactokinase activity in Chinese with reference to congenital cataract].
Xu GT
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 1989
[GENETIC COUNSELING IN HEREDITARY CONGENITAL CATARACT].
PECCININI D
Arquivos Brasileiros De Oftalmologia, 1964
Mutation in HSF4 is associated with hereditary cataract in the Australian Shepherd.
Mellersh CS et al.
Veterinary Ophthalmology, 0
The genetic and molecular basis of congenital cataract.
Santana A et al.
Arquivos Brasileiros De Oftalmologia, 0