Associated Papers
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
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
Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.
Sun Y et al.
Scientific Reports, 2018
Identification of a novel MIP frameshift mutation associated with congenital cataract in a Chinese family by whole-exome sequencing and functional analysis.
Long X et al.
Eye (london, England), 2018
A novel MIP mutation in a Chinese family with congenital cataract.
Yuan C et al.
Ophthalmic Genetics, 2018
Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.
Li J et al.
Orphanet Journal of Rare Diseases, 2018
Identification of a novel missense mutation of MIP in a Chinese family with congenital cataracts by target region capture sequencing.
Jiang B et al.
Scientific Reports, 2017
A novel MIP mutation in familial congenital nuclear cataracts.
Qin L et al.
European Journal of Medical Genetics, 2016
Folding and stability of the aquaglyceroporin GlpF: Implications for human aqua(glycero)porin diseases.
Klein N et al.
Biochimica Et Biophysica Acta, 2015
A novel nonsense mutation in the MIP gene linked to congenital posterior polar cataracts in a Chinese family.
Song Z et al.
Plos One, 2015
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
An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract.
Senthil Kumar G et al.
Experimental Eye Research, 2013
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