Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)
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VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathiesBestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epitheliumMissense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosaBEST1 expression in the retinal pigment epithelium is modulated by OTX family membersThe Drosophila tweety family: molecular candidates for large-conductance Ca2+-activated Cl- channelscDNA cloning and characterization of human Delta5-desaturase involved in the biosynthesis of arachidonic acidThe vitelliform macular dystrophy protein defines a new family of chloride channels.Structure-function analysis of the bestrophin family of anion channelsDiversity of Cl(-) channelsDysregulation of human bestrophin-1 by ceramide-induced dephosphorylationRegulation of bestrophin Cl channels by calcium: role of the C terminusFunctional roles of bestrophins in ocular epitheliaBestrophin-2 is a candidate calcium-activated chloride channel involved in olfactory transductionRetinal dystrophies, genomic applications in diagnosis and prospects for therapyA C-terminally truncated mouse Best3 splice variant targets and alters the ion balance in lysosome-endosome hybrids and the endoplasmic reticulum.Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM familyAnalysis of the Arg345Trp disease-associated allele of the EFEMP1 gene in individuals with early onset drusen or familial age-related macular degenerationVMD2 promoter requires two proximal E-box sites for its activity in vivo and is regulated by the MITF-TFE familyMolecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathiesEvaluation of the G protein coupled receptor-75 (GPR75) in age related macular degenerationA short motif in the C-terminus of mouse bestrophin 3 [corrected] inhibits its activation as a Cl channelThe light peak of the electroretinogram is dependent on voltage-gated calcium channels and antagonized by bestrophin (best-1)Bestrophin Cl- channels are highly permeable to HCO3-Molecular evolution and functional divergence of the bestrophin protein familyInteraction of bestrophin-1 and Ca2+ channel β-subunits: identification of new binding domains on the bestrophin-1 C-terminusEffects of alternative splicing on the function of bestrophin-1 calcium-activated chloride channelsThe best disease-linked Cl- channel hBest1 regulates Ca V 1 (L-type) Ca2+ channels via src-homology-binding domains.Stoichiometry and specific assembly of Best ion channelsBestrophin 1 is indispensable for volume regulation in human retinal pigment epithelium cells.The role of bestrophin in airway epithelial ion transport.Drosophila bestrophin-1 chloride current is dually regulated by calcium and cell volume.Morphological and functional analyses of adult onset vitelliform macular dystrophyMacular degeneration: recent advances and therapeutic opportunities.Activation of bestrophin Cl- channels is regulated by C-terminal domains.Regulation of bestrophins by Ca2+: a theoretical and experimental study.Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene.Hydrodynamic properties of porcine bestrophin-1 in Triton X-100.A model of best vitelliform macular dystrophy in ratsGenetic susceptibility to age related macular degeneration.Distribution and Function of the Bestrophin-1 (Best1) Channel in the Brain
P2860
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P2860
Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)
description
1998 nî lūn-bûn
@nan
1998 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Mutations in a novel gene, VMD ...... lar dystrophy (Best's disease)
@ast
Mutations in a novel gene, VMD ...... lar dystrophy (Best's disease)
@en
Mutations in a novel gene, VMD ...... lar dystrophy (Best's disease)
@nl
type
label
Mutations in a novel gene, VMD ...... lar dystrophy (Best's disease)
@ast
Mutations in a novel gene, VMD ...... lar dystrophy (Best's disease)
@en
Mutations in a novel gene, VMD ...... lar dystrophy (Best's disease)
@nl
prefLabel
Mutations in a novel gene, VMD ...... lar dystrophy (Best's disease)
@ast
Mutations in a novel gene, VMD ...... lar dystrophy (Best's disease)
@en
Mutations in a novel gene, VMD ...... lar dystrophy (Best's disease)
@nl
P2093
P3181
P356
P1476
Mutations in a novel gene, VMD ...... lar dystrophy (Best's disease)
@en
P2093
P304
P3181
P356
10.1093/HMG/7.9.1517
P407
P577
1998-09-01T00:00:00Z