Associated Papers
In Silico Modelling of the AQP0 T138R Mutation and its' links to Potential Mechanisms of Cataractogenesis.
Nikolaieva Y et al.
Research Square, 2025
Novel MIP gene mutation causes autosomal-dominant congenital cataract.
Ni JL et al.
International Journal of Ophthalmology, 2024
A novel missense mutation in the gene encoding major intrinsic protein (MIP) in a Giant panda with unilateral cataract formation.
Bai C et al.
Bmc Genomics, 2021
The relationship between major intrinsic protein genes and cataract.
Sun W et al.
International Ophthalmology, 2021
Identification of a missense mutation in MIP gene via mutation analysis of a Guangxi Zhuang ethnic pedigree with congenital nuclear cataracts.
Zhou Z et al.
Experimental and Therapeutic Medicine, 2018
Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.
Li J et al.
Orphanet Journal of Rare Diseases, 2018
Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.
Patel N et al.
Human Genetics, 2017
A novel MIP mutation in familial congenital nuclear cataracts.
Qin L et al.
European Journal of Medical Genetics, 2016
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
Identification and Functional Analysis of a Novel MIP Gene Mutation Associated with Congenital Cataract in a Chinese Family.
Shentu X et al.
Plos One, 2015
Molecular genetics of congenital nuclear cataract.
Deng H et al.
European Journal of Medical Genetics, 2014
A novel MIP gene mutation associated with autosomal dominant congenital cataracts in a Chinese family.
Yu Y et al.
Bmc Medical Genetics, 2014
A novel MIP gene mutation analysis in a Chinese family affected with congenital progressive punctate cataract.
Ding X et al.
Plos One, 2014
Functional characterization of an AQP0 missense mutation, R33C, that causes dominant congenital lens cataract, reveals impaired cell-to-cell adhesion.
Kumari SS et al.
Experimental Eye Research, 2013
The Arg233Lys AQP0 mutation disturbs aquaporin0-calmodulin interaction causing polymorphic congenital cataract.
Hu S et al.
Plos One, 2012
A novel mutation in the MIP gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family.
Yang G et al.
Molecular Vision, 2011
Cerulean cataract mapped to 12q13 and associated with a novel initiation codon mutation in MIP.
Xiao X et al.
Molecular Vision, 2011
A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese family.
Wang W et al.
Molecular Vision, 2010
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