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注意：仅列出部分参考文献，下载原文获取全部文献信息。iPS cell modeling of Best disease: insights into the pathophysiology of an inherited macular degeneration
Ruchira Singh et al.
HUMAN MOLECULAR GENETICS (2013)
Role of bestrophin-1 in store-operated calcium entry in retinal pigment epithelium
Nestor Mas Gomez et al.
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TREK-1 and Best1 Channels Mediate Fast and Slow Glutamate Release in Astrocytes upon GPCR Activation
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CELL (2012)
Autosomal Recessive Best Vitelliform Macular Dystrophy Report of a Family and Management of Early-Onset Neovascular Complications
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ARCHIVES OF OPHTHALMOLOGY (2011)
Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations
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Disease-associated missense mutations in bestrophin-1 affect cellular trafficking and anion conductance
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Functional Characterization of Bestrophin-1 Missense Mutations Associated with Autosomal Recessive Bestrophinopathy
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Effect of bestrophin-1 on L-type Ca2+ channel activity depends on the Ca2+ channel beta-subunit
Nadine Reichhart et al.
EXPERIMENTAL EYE RESEARCH (2010)
Suppression of Ca2+ signaling in a mouse model of Best disease
Youwen Zhang et al.
HUMAN MOLECULAR GENETICS (2010)
Bestrophin-2 mediates bicarbonate transport by goblet cells in mouse colon
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Bestrophins and retinopathies
Qinghuan Xiao et al.
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The presence of bestrophin-1 modulates the Ca2+ recruitment from Ca2+ stores in the ER
Rudgar Neussert et al.
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY (2010)
Channel-Mediated Tonic GABA Release from Glia
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SCIENCE (2010)
Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa
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AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Human Disease-causing Mutations Disrupt an N-C-terminal Interaction and Channel Function of Bestrophin 1
Zhiqiang Qu et al.
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Functional roles of bestrophins in ocular epithelia
Alan D. Marmorstein et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2009)
The spectrum of ocular phenotypes caused by mutations in the BEST1 gene
Camiel J. F. Boon et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2009)
Biallelic mutation of BEST1 causes a distinct retinopathy in humans
Rosemary Burgess et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
The best disease-linked Cl- channel hBest1 regulates CaV1 (L-type) Ca2+ channels via src-homology-binding domains
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Molecular physiology of bestrophins: Multifunctional membrane proteins linked to best disease and other retinopathies
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PHYSIOLOGICAL REVIEWS (2008)
Enhanced accumulation of A2E in individuals homozygous or heterozygous for mutations in BEST1 (VMD2)
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EXPERIMENTAL EYE RESEARCH (2007)
Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects
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VISION RESEARCH (2006)
Variant phenotype of best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2
Patrik Schatz et al.
OPHTHALMIC GENETICS (2006)
The anion-selective pore of the bestrophins, a family of chloride channels associated with retinal degeneration
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JOURNAL OF NEUROSCIENCE (2006)
The light peak of the electroretinogram is dependent on voltage-gated calcium channels and antagonized by bestrophin (Best-1)
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JOURNAL OF GENERAL PHYSIOLOGY (2006)
Hydrodynamic properties of porcine bestrophin-1 in triton X-100
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Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy
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TRENDS IN MOLECULAR MEDICINE (2005)
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC)
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INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2004)
Determinants of anion permeation in the second transmembrane domain of the mouse bestrophin-2 chloride channel
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JOURNAL OF GENERAL PHYSIOLOGY (2004)
A model of best vitelliform macular dystrophy in rats
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INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2004)
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INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2003)
The vitelliform macular dystrophy protein defines a new family of chloride channels
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PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium
AD Marmorstein et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2000)
Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration
F Krämer et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2000)
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