A novel MIP gene mutation associated with autosomal dominant congenital cataracts in a Chinese family

scientific article published on 09 January 2014

A novel MIP gene mutation associated with autosomal dominant congenital cataracts in a Chinese family is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1022879829
P356DOI10.1186/1471-2350-15-6
P932PMC publication ID3890554
P698PubMed publication ID24405844
P5875ResearchGate publication ID259650351

P2093author name stringKe Yao
Jinyu Li
Yi Zhai
Yibo Yu
Yanan Zhu
Yinhui Yu
Peiqing Chen
P2860cites workFunctional impairment of lens aquaporin in two families with dominantly inherited cataractsQ27876227
Functional characterization of a human aquaporin 0 mutation that leads to a congenital dominant lens cataractQ27924190
Cellular and molecular biology of the aquaporin water channelsQ28139434
Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12qQ28143937
Nonsense-mediated mRNA decay: terminating erroneous gene expressionQ28261899
Optical dysfunction of the crystalline lens in aquaporin-0-deficient miceQ28507969
Functional expression of aquaporins in embryonic, postnatal, and adult mouse lensesQ28510415
A perfect message: RNA surveillance and nonsense-mediated decayQ29616125
The genetics of childhood cataractQ33959625
Quality control of mRNA functionQ34156109
Elimination of cataract blindness: a global perspective entering the new milleniumQ34211364
Cat-Map: putting cataract on the mapQ34248597
A novel mutation in MIP associated with congenital nuclear cataract in a Chinese familyQ34493831
A 5-bp insertion in Mip causes recessive congenital cataract in KFRS4/Kyo ratsQ34505814
Novel single-base deletional mutation in major intrinsic protein (MIP) in autosomal dominant cataractQ34623095
A novel mutation in the MIP gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family.Q35024324
Cerulean cataract mapped to 12q13 and associated with a novel initiation codon mutation in MIP.Q35158256
Development of lens suturesQ35959748
Nonsense-mediated mRNA decay modulates clinical outcome of genetic diseaseQ36498954
An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract.Q36605158
Junction-forming aquaporins.Q36676550
Genetic origins of cataractQ36734552
A novel connexin 50 gene (gap junction protein, alpha 8) mutation associated with congenital nuclear and zonular pulverulent cataractQ36766108
Congenital cataracts and their molecular geneticsQ37012783
Identification of a novel splice-site mutation in MIP in a Chinese congenital cataract family.Q37042479
A substitution of arginine to lysine at the COOH-terminus of MIP caused a different binocular phenotype in a congenital cataract family.Q46932396
A novel mutation in major intrinsic protein of the lens gene (MIP) underlies autosomal dominant cataract in a Chinese familyQ46983204
The major intrinsic protein (MIP) of the bovine lens fiber membrane: Characterization and structure based on cDNA cloningQ48386421
The plasma membranes of eye lens fibres. Biochemical and structural characterization.Q53775715
Long-term visual results and complications in children with aphakia. A function of cataract typeQ70759998
Genetic and segregation analysis of congenital cataract in the Indian populationQ73433864
Lens structure in MIP-deficient miceQ73622704
P921main subjectcongenital disorderQ727096
P304page(s)6
P577publication date2014-01-09
P1433published inBMC Medical GeneticsQ15759918
P1476titleA novel MIP gene mutation associated with autosomal dominant congenital cataracts in a Chinese family
P478volume15

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cites work (P2860)
Q33916470A novel MIP gene mutation analysis in a Chinese family affected with congenital progressive punctate cataract
Q41245001A novel missense mutation of Mip causes semi-dominant cataracts in the Nat mouse
Q35213915A novel nonsense mutation in the MIP gene linked to congenital posterior polar cataracts in a Chinese family
Q46102391Calmodulin Gates Aquaporin 0 Permeability through a Positively Charged Cytoplasmic Loop.
Q36978562Distribution of gene mutations in sporadic congenital cataract in a Han Chinese population
Q92144213Genetic modifiers of rodent animal models: the role in cataractogenesis
Q35577778Identification and Functional Analysis of a Novel MIP Gene Mutation Associated with Congenital Cataract in a Chinese Family
Q52562810Identification of a novel MIP frameshift mutation associated with congenital cataract in a Chinese family by whole-exome sequencing and functional analysis.
Q37563474Identification of a novel missense mutation of MIP in a Chinese family with congenital cataracts by target region capture sequencing
Q39370800Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis
Q35843422MALDI Imaging Mass Spectrometry Spatially Maps Age-Related Deamidation and Truncation of Human Lens Aquaporin-0.
Q38344246Nonsense suppression therapies in ocular genetic diseases
Q58597265Novel mutations in identified by targeted exome sequencing in Chinese families with congenital cataract

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