Associated Papers
Genetic Landscape of Congenital Cataracts in a Swiss Cohort: Addressing Diagnostic Oversights in Nance-Horan Syndrome.
Delas F et al.
Biomedicines, 2025
Functional characterization of CatTohm, a mouse AQP0 mutation that causes oxidative stress, cytotoxicity, dominant congenital lens cataract and microphthalmia.
Kumari S et al.
Experimental Eye Research, 2025
Genetic architecture of congenital cataracts: correlation of pathogenic variants with morphology and clinical outcomes.
Guo D et al.
Progress in Retinal and Eye Research, 2025
A novel single-base deletional mutation of MIP impairs protein distribution and cell-to-cell adhesion in autosomal dominant cataracts in a Chinese family.
Yu Y et al.
American Journal of Medical Genetics. Part A, 2024
Novel MIP gene mutation causes autosomal-dominant congenital cataract.
Ni JL et al.
International Journal of Ophthalmology, 2024
First implication of MIP in bilateral microphthalmia with persistent fetal vasculature.
Santorini M et al.
American Journal of Medical Genetics. Part A, 2023
Anterior Umbilication of Lens in a Family with Congenital Cataracts Associated with a Missense Mutation of MIP Gene.
Cheng Z et al.
Genes, 2022
Beyond the Channels: Adhesion Functions of Aquaporin 0 and Connexin 50 in Lens Development.
Li Z et al.
Frontiers in Cell and Developmental Biology, 2022
Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract.
Rechsteiner D et al.
Jama Ophthalmology, 2021
Development of a potent embryonic chick lens model for studying congenital cataracts in vivo.
Li Z et al.
Communications Biology, 2021
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
Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka.
Javadiyan S et al.
Molecular Genetics & Genomic Medicine, 2018
A novel missense mutation of Mip causes semi-dominant cataracts in the Nat mouse.
Takahashi G et al.
Experimental Animals, 2017
A novel MIP mutation in familial congenital nuclear cataracts.
Qin L et al.
European Journal of Medical Genetics, 2016
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.
Ma AS et al.
Human Mutation, 2016
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
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 MIP associated with congenital nuclear cataract in a Chinese family.
Wang KJ et al.
Molecular Vision, 2011
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
Identification of a MIP mutation that activates a cryptic acceptor splice site in the 3' untranslated region.
Jin C et al.
Molecular Vision, 2010
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
Identification of a novel splice-site mutation in MIP in a Chinese congenital cataract family.
Jiang J et al.
Molecular Vision, 2009
Genetic variation in human aquaporins and effects on phenotypes of water homeostasis.
Sorani MD et al.
Human Mutation, 2008
A novel mutation in major intrinsic protein of the lens gene (MIP) underlies autosomal dominant cataract in a Chinese family.
Gu F et al.
Molecular Vision, 2007
Molecular characteristics of inherited congenital cataracts.
Huang B et al.
European Journal of Medical Genetics, 0