A novel donor splice-site mutation of major intrinsic protein gene associated with congenital cataract in a Chinese family

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A novel donor splice-site mutation of major intrinsic protein gene associated with congenital cataract in a Chinese family is …
instance of (P31):
scholarly articleQ13442814

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P932PMC publication ID3834598
P698PubMed publication ID24319327

P2093author name stringXing Wang
Jing Yao
Hui Dang
Lu Zeng
Luna Gao
Wenguo Feng
Wenqiang Liu
Xianqin Zhang
P2860cites workAppearance of water channels in Xenopus oocytes expressing red cell CHIP28 proteinQ27919643
Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12qQ28143937
Optical dysfunction of the crystalline lens in aquaporin-0-deficient miceQ28507969
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequencesQ29619441
A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese familyQ33758626
The genetic and molecular basis of congenital cataractQ34202721
Identification of a MIP mutation that activates a cryptic acceptor splice site in the 3' untranslated regionQ34364049
A novel mutation in MIP associated with congenital nuclear cataract in a Chinese familyQ34493831
The structure of aquaporinsQ34589055
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
The ocular lens fiber membrane specific protein MIP/Aquaporin 0Q35575922
A novel T→G splice site mutation of CRYBA1/A3 associated with autosomal dominant nuclear cataracts in a Chinese familyQ36001134
An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract.Q36605158
The lens circulation.Q36849396
Congenital cataracts and their molecular geneticsQ37012783
Identification of a novel splice-site mutation in MIP in a Chinese congenital cataract family.Q37042479
Structural function of MIP/aquaporin 0 in the eye lens; genetic defects lead to congenital inherited cataractsQ37354994
pH and calcium regulate the water permeability of aquaporin 0.Q41723033
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
Mutations in the founder of the MIP gene family underlie cataract development in the mouse.Q48066771
Molecular genetics of cataractQ73700593
Membrane water transport and aquaporins: looking backQ81759191
P921main subjectcongenital disorderQ727096
P304page(s)2244-2249
P577publication date2013-11-14
P1433published inMolecular VisionQ6895981
P1476titleA novel donor splice-site mutation of major intrinsic protein gene associated with congenital cataract in a Chinese family
P478volume19

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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
Q55070093Function of macrophage scavenger receptor 1 gene polymorphisms in chronic obstructive pulmonary disease with and without lung cancer in China.
Q92144213Genetic modifiers of rodent animal models: the role in cataractogenesis
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
Q88431812Splicing mutations in human genetic disorders: examples, detection, and confirmation
Q64266878Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight

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