Novel single-base deletional mutation in major intrinsic protein (MIP) in autosomal dominant cataract
about
Functional 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 adhesionFunctional expression of aquaporins in embryonic, postnatal, and adult mouse lensesPKC putative phosphorylation site Ser235 is required for MIP/AQP0 translocation to the plasma membrane.Transgenic expression of AQP1 in the fiber cells of AQP0 knockout mouse: effects on lens transparency.Physiological role of aquaporin 5 in salivary glands.A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese familyMIP/Aquaporin 0 represents a direct transcriptional target of PITX3 in the developing lens.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.A novel mutation in the MIP gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family.Cerulean cataract mapped to 12q13 and associated with a novel initiation codon mutation in MIP.A novel nonsense mutation in the MIP gene linked to congenital posterior polar cataracts in a Chinese family.Identification and Functional Analysis of a Novel MIP Gene Mutation Associated with Congenital Cataract in a Chinese Family.Functions of aquaporins in the eyeAquaporins in the eye: expression, function, and roles in ocular diseaseInsights into the beaded filament of the eye lens.Congenital cataracts and their molecular geneticsIdentification of a novel splice-site mutation in MIP in a Chinese congenital cataract family.A novel donor splice-site mutation of major intrinsic protein gene associated with congenital cataract in a Chinese family.A novel MIP gene mutation associated with autosomal dominant congenital cataracts in a Chinese family.Identification of a novel missense mutation of MIP in a Chinese family with congenital cataracts by target region capture sequencing.Aquaporin-0 targets interlocking domains to control the integrity and transparency of the eye lens.Structural insights into eukaryotic aquaporin regulation.The Extracellular C-loop Domain Plays an Important Role in the Cell Adhesion Function of Aquaporin 0.Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.A novel missense mutation of Mip causes semi-dominant cataracts in the Nat mouse.Aquaporin Protein-Protein Interactions.The Role of Aquaporins in Ocular Lens Homeostasis.Identification of a novel MIP frameshift mutation associated with congenital cataract in a Chinese family by whole-exome sequencing and functional analysis.
P2860
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P2860
Novel single-base deletional mutation in major intrinsic protein (MIP) in autosomal dominant cataract
description
2006 nî lūn-bûn
@nan
2006 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Novel single-base deletional m ...... in autosomal dominant cataract
@ast
Novel single-base deletional m ...... in autosomal dominant cataract
@en
Novel single-base deletional mutation in major intrinsic protein
@nl
type
label
Novel single-base deletional m ...... in autosomal dominant cataract
@ast
Novel single-base deletional m ...... in autosomal dominant cataract
@en
Novel single-base deletional mutation in major intrinsic protein
@nl
prefLabel
Novel single-base deletional m ...... in autosomal dominant cataract
@ast
Novel single-base deletional m ...... in autosomal dominant cataract
@en
Novel single-base deletional mutation in major intrinsic protein
@nl
P2093
P2860
P1476
Novel single-base deletional m ...... in autosomal dominant cataract
@en
P2093
David D Geyer
J Bronwyn Bateman
Kevin P Clancy
M Anne Spence
Matthew D Jonsen
Meriam Johannes
Pamela Flodman
Rebecca Berry
Robert S Sparkes
Sherwin J Isenberg
P2860
P304
P356
10.1016/J.AJO.2005.11.008
P407
P577
2006-04-01T00:00:00Z