Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q
about
Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataractsCrystallin gene mutations in Indian families with inherited pediatric cataractCHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20qFunctional requirement of aquaporin-5 in plasma membranes of sweat glands.Novel variants in human Aquaporin-4 reduce cellular water permeabilityThe EPHA2 gene is associated with cataracts linked to chromosome 1pTargeted ablation of NrCAM or ankyrin-B results in disorganized lens fibers leading to cataract formationWater homeostasis: evolutionary medicineFunctional characterization of a human aquaporin 0 mutation that leads to a congenital dominant lens cataract.Functional characterization of an AQP0 missense mutation, R33C, that causes dominant congenital lens cataract, reveals impaired cell-to-cell adhesionA novel COL4A1 gene mutation results in autosomal dominant non-syndromic congenital cataract in a Chinese familyAquaporin-1-facilitated keratocyte migration in cell culture and in vivo corneal wound healing modelsFunctional expression of aquaporins in embryonic, postnatal, and adult mouse lensesSingle amino acid substitution in aquaporin 11 causes renal failurePKC putative phosphorylation site Ser235 is required for MIP/AQP0 translocation to the plasma membrane.Postnatal expression of aquaporins in epithelial cells of the rat epididymis.Physiological role of aquaporin 5 in salivary glands.A temperature-sensitive mutation of Crygs in the murine Opj cataract.Efficient non-viral ocular gene transfer with compacted DNA nanoparticles.Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening.A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese familyAquaporins: important but elusive drug targets.Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3)Decreased pulmonary vascular permeability in aquaporin-1-null humansA novel MIP gene mutation analysis in a Chinese family affected with congenital progressive punctate cataractA missense mutation in CRYBA4 associated with congenital cataract and microcornea.MIP/Aquaporin 0 represents a direct transcriptional target of PITX3 in the developing lens.The genetics of childhood cataractAlpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humansMan Is not a rodent: aquaporins in the airways.Prevention strategies for age related cataract: present limitations and future possibilities.Aquaporin water channels: molecular mechanisms for human diseases.The Arg233Lys AQP0 mutation disturbs aquaporin0-calmodulin interaction causing polymorphic congenital cataract.Identification of a MIP mutation that activates a cryptic acceptor splice site in the 3' untranslated regionA Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations.A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family.A 5-bp insertion in Mip causes recessive congenital cataract in KFRS4/Kyo ratsThe NPC motif of aquaporin-11, unlike the NPA motif of known aquaporins, is essential for full expression of molecular function.Novel single-base deletional mutation in major intrinsic protein (MIP) in autosomal dominant cataractTwo distinct aquaporin 0s required for development and transparency of the zebrafish lens.
P2860
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P2860
Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q
description
2000 nî lūn-bûn
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2000 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Missense mutations in MIP unde ...... mellar cataracts linked to 12q
@ast
Missense mutations in MIP unde ...... mellar cataracts linked to 12q
@en
Missense mutations in MIP unde ...... mellar cataracts linked to 12q
@nl
type
label
Missense mutations in MIP unde ...... mellar cataracts linked to 12q
@ast
Missense mutations in MIP unde ...... mellar cataracts linked to 12q
@en
Missense mutations in MIP unde ...... mellar cataracts linked to 12q
@nl
prefLabel
Missense mutations in MIP unde ...... mellar cataracts linked to 12q
@ast
Missense mutations in MIP unde ...... mellar cataracts linked to 12q
@en
Missense mutations in MIP unde ...... mellar cataracts linked to 12q
@nl
P2093
P3181
P356
P1433
P1476
Missense mutations in MIP unde ...... mellar cataracts linked to 12q
@en
P2093
P2860
P2888
P3181
P356
10.1038/75538
P407
P577
2000-05-01T00:00:00Z