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
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
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
Biology of Inherited Cataracts and Opportunities for Treatment.
Shiels A et al.
Annual Review of Vision Science, 2019
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 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 missense mutation of Mip causes semi-dominant cataracts in the Nat mouse.
Takahashi G et al.
Experimental Animals, 2017
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
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
The Arg233Lys AQP0 mutation disturbs aquaporin0-calmodulin interaction causing polymorphic congenital cataract.
Hu S et al.
Plos One, 2012
A 5-bp insertion in Mip causes recessive congenital cataract in KFRS4/Kyo rats.
Watanabe K 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
Structural function of MIP/aquaporin 0 in the eye lens; genetic defects lead to congenital inherited cataracts.
Chepelinsky AB
Handbook of Experimental Pharmacology, 2009
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
Functional characterization of a human aquaporin 0 mutation that leads to a congenital dominant lens cataract.
Varadaraj K et al.
Experimental Eye Research, 2008
Confocal fluorescence microscopy study of interaction between lens MIP26/AQP0 and crystallins in living cells.
Liu BF et al.
Journal of Cellular Biochemistry, 2008
A novel alphaB-crystallin mutation associated with autosomal dominant congenital lamellar cataract.
Liu Y et al.
Investigative Ophthalmology & Visual Science, 2006
Specific interaction between lens MIP/Aquaporin-0 and two members of the gamma-crystallin family.
Fan J et al.
Molecular Vision, 2005
gammaE-crystallin recruitment to the plasma membrane by specific interaction between lens MIP/aquaporin-0 and gammaE-crystallin.
Fan J et al.
Investigative Ophthalmology & Visual Science, 2004
Genetics of childhood cataract.
Francis PJ et al.
Current Opinion in Ophthalmology, 2004
Congenital hereditary cataracts.
Graw J
The International Journal of Developmental Biology, 2004
Functional impairment of lens aquaporin in two families with dominantly inherited cataracts.
Francis P et al.
Human Molecular Genetics, 2000
Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q.
Berry V et al.
Nature Genetics, 2000
[GENETIC COUNSELING IN HEREDITARY CONGENITAL CATARACT].
PECCININI D
Arquivos Brasileiros De Oftalmologia, 1964
The genetic and molecular basis of congenital cataract.
Santana A et al.
Arquivos Brasileiros De Oftalmologia, 0
A novel mutation of MIP in a Chinese family with congenital nuclear cataract identified by whole-exome sequencing.
Liu S et al.
Ophthalmic Genetics, 0