scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1022879829 |
P356 | DOI | 10.1186/1471-2350-15-6 |
P932 | PMC publication ID | 3890554 |
P698 | PubMed publication ID | 24405844 |
P5875 | ResearchGate publication ID | 259650351 |
P2093 | author name string | Ke Yao | |
Jinyu Li | |||
Yi Zhai | |||
Yibo Yu | |||
Yanan Zhu | |||
Yinhui Yu | |||
Peiqing Chen | |||
P2860 | cites work | Functional impairment of lens aquaporin in two families with dominantly inherited cataracts | Q27876227 |
Functional characterization of a human aquaporin 0 mutation that leads to a congenital dominant lens cataract | Q27924190 | ||
Cellular and molecular biology of the aquaporin water channels | Q28139434 | ||
Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q | Q28143937 | ||
Nonsense-mediated mRNA decay: terminating erroneous gene expression | Q28261899 | ||
Optical dysfunction of the crystalline lens in aquaporin-0-deficient mice | Q28507969 | ||
Functional expression of aquaporins in embryonic, postnatal, and adult mouse lenses | Q28510415 | ||
A perfect message: RNA surveillance and nonsense-mediated decay | Q29616125 | ||
The genetics of childhood cataract | Q33959625 | ||
Quality control of mRNA function | Q34156109 | ||
Elimination of cataract blindness: a global perspective entering the new millenium | Q34211364 | ||
Cat-Map: putting cataract on the map | Q34248597 | ||
A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family | Q34493831 | ||
A 5-bp insertion in Mip causes recessive congenital cataract in KFRS4/Kyo rats | Q34505814 | ||
Novel single-base deletional mutation in major intrinsic protein (MIP) in autosomal dominant cataract | Q34623095 | ||
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 sutures | Q35959748 | ||
Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease | Q36498954 | ||
An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract. | Q36605158 | ||
Junction-forming aquaporins. | Q36676550 | ||
Genetic origins of cataract | Q36734552 | ||
A novel connexin 50 gene (gap junction protein, alpha 8) mutation associated with congenital nuclear and zonular pulverulent cataract | Q36766108 | ||
Congenital cataracts and their molecular genetics | Q37012783 | ||
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 family | Q46983204 | ||
The major intrinsic protein (MIP) of the bovine lens fiber membrane: Characterization and structure based on cDNA cloning | Q48386421 | ||
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 type | Q70759998 | ||
Genetic and segregation analysis of congenital cataract in the Indian population | Q73433864 | ||
Lens structure in MIP-deficient mice | Q73622704 | ||
P921 | main subject | congenital disorder | Q727096 |
P304 | page(s) | 6 | |
P577 | publication date | 2014-01-09 | |
P1433 | published in | BMC Medical Genetics | Q15759918 |
P1476 | title | A novel MIP gene mutation associated with autosomal dominant congenital cataracts in a Chinese family | |
P478 | volume | 15 |
Q33916470 | A novel MIP gene mutation analysis in a Chinese family affected with congenital progressive punctate cataract |
Q41245001 | A novel missense mutation of Mip causes semi-dominant cataracts in the Nat mouse |
Q35213915 | A novel nonsense mutation in the MIP gene linked to congenital posterior polar cataracts in a Chinese family |
Q46102391 | Calmodulin Gates Aquaporin 0 Permeability through a Positively Charged Cytoplasmic Loop. |
Q36978562 | Distribution of gene mutations in sporadic congenital cataract in a Han Chinese population |
Q92144213 | Genetic modifiers of rodent animal models: the role in cataractogenesis |
Q35577778 | Identification and Functional Analysis of a Novel MIP Gene Mutation Associated with Congenital Cataract in a Chinese Family |
Q52562810 | Identification of a novel MIP frameshift mutation associated with congenital cataract in a Chinese family by whole-exome sequencing and functional analysis. |
Q37563474 | Identification of a novel missense mutation of MIP in a Chinese family with congenital cataracts by target region capture sequencing |
Q39370800 | Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis |
Q35843422 | MALDI Imaging Mass Spectrometry Spatially Maps Age-Related Deamidation and Truncation of Human Lens Aquaporin-0. |
Q38344246 | Nonsense suppression therapies in ocular genetic diseases |
Q58597265 | Novel mutations in identified by targeted exome sequencing in Chinese families with congenital cataract |
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