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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
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
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Lens-specific conditional knockout of Msx2 in mice leads to ocular anterior segment dysgenesis via activation of a calcium signaling pathway.
Yu W et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology, 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 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
Genetic variation in human aquaporins and effects on phenotypes of water homeostasis.
Sorani MD et al.
Human Mutation, 2008
[A novel missense mutation in MIP gene resulted in polymorphic cataract].
Lin H et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008
A substitution of arginine to lysine at the COOH-terminus of MIP caused a different binocular phenotype in a congenital cataract family.
Lin H et al.
Molecular Vision, 2007