|
CATARACT 15, MULTIPLE TYPES
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Identification and Functional Analysis of a Novel MIP Gene Mutation Associated with Congenital Cataract in a Chinese Family.
|
25946197 |
2015 |
|
CATARACT 15, MULTIPLE TYPES
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Functional characterization of an AQP0 missense mutation, R33C, that causes dominant congenital lens cataract, reveals impaired cell-to-cell adhesion.
|
24120416 |
2013 |
|
CATARACT 15, MULTIPLE TYPES
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract.
|
23116563 |
2013 |
|
CATARACT 15, MULTIPLE TYPES
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family.
|
21245956 |
2011 |
|
CATARACT 15, MULTIPLE TYPES
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese family.
|
20361015 |
2010 |
|
CATARACT 15, MULTIPLE TYPES
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation in major intrinsic protein of the lens gene (MIP) underlies autosomal dominant cataract in a Chinese family.
|
17893667 |
2007 |
|
CATARACT 15, MULTIPLE TYPES
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A substitution of arginine to lysine at the COOH-terminus of MIP caused a different binocular phenotype in a congenital cataract family.
|
17960133 |
2007 |
|
CATARACT 15, MULTIPLE TYPES
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Novel single-base deletional mutation in major intrinsic protein (MIP) in autosomal dominant cataract.
|
16564824 |
2006 |
|
CATARACT 15, MULTIPLE TYPES
|
0.900 |
Biomarker
|
disease |
MGD |
Bilateral congenital cataracts result from a gain-of-function mutation in the gene for aquaporin-0 in mice.
|
12676560 |
2003 |
|
CATARACT 15, MULTIPLE TYPES
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q.
|
10802646 |
2000 |
|
CATARACT 15, MULTIPLE TYPES
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Functional impairment of lens aquaporin in two families with dominantly inherited cataracts.
|
11001937 |
2000 |
|
CATARACT 15, MULTIPLE TYPES
|
0.900 |
Biomarker
|
disease |
MGD |
Lens opacity: a new gene for congenital cataract on chromosome 10 of the mouse.
|
7333462 |
1981 |
|
CATARACT 15, MULTIPLE TYPES
|
0.900 |
Biomarker
|
disease |
MGD |
[Ultrastructural analysis of the effects of dominant cataract-Fr gene in mouse embryos].
|
1026873 |
1976 |
|
CATARACT 15, MULTIPLE TYPES
|
0.900 |
Biomarker
|
disease |
MGD |
Cataracts and abnormal proliferation of the lens epithelium in mice carrying the CatFr gene.
|
5786866 |
1969 |
|
CATARACT 15, MULTIPLE TYPES
|
0.900 |
Biomarker
|
disease |
MGD |
Morphogenesis of the eye lens in a mouse strain with hereditary cataracts.
|
5716581 |
1968 |
|
CATARACT 15, MULTIPLE TYPES
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
CATARACT 15, MULTIPLE TYPES
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
CATARACT 15, MULTIPLE TYPES
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
CATARACT 15, MULTIPLE TYPES
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
CATARACT 15, MULTIPLE TYPES
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Cataract
|
0.700 |
Biomarker
|
disease |
BEFREE |
AQP0ΔC/ΔC lenses were transparent throughout the embryonic development and until postnatal day 15 (P15) in contrast to age-matched AQP0-/- lenses, which developed cataract at embryonic stage itself.
|
30821811 |
2019 |
|
Cataract
|
0.700 |
Biomarker
|
disease |
BEFREE |
Quantification of the level of an AQP0/AQP0 crosslinked peptide showed increased crosslinking with age and in cataract lenses.
|
31794011 |
2019 |
|
Cataract
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Identification of a missense mutation in MIP gene via mutation analysis of a Guangxi Zhuang ethnic pedigree with congenital nuclear cataracts.
|
30214549 |
2018 |
|
Cataract
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Overall, the Mip<sup>Nat</sup> mice offer a novel model to better understand the phenotypes and mechanisms for the development of cataracts in patients that carry missense mutations in MIP.
|
28442635 |
2017 |
|
Cataract
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We screened 60 known genes which are involved in inherited cataract in a pregnant woman with a four-generation family history of autosomal dominant congenital nuclear cataract through next-generation sequencing (NGS) and identified a heterozygous mutation, c.508dupC (p.L170fs), in the major intrinsic protein (MIP) gene.
|
27456987 |
2016 |