Related references
Note: Only part of the references are listed.Mutant Allele Imbalance in Cancer
Craig M. Bielski et al.
ANNUAL REVIEW OF CANCER BIOLOGY, VOL 5, 2021 (2021)
Structural and functional characterization of the bestrophin-2 anion channel
Aaron P. Owji et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2020)
Investigation and Restoration of BEST1 Activity in Patient-derived RPEs with Dominant Mutations
Changyi Ji et al.
SCIENTIFIC REPORTS (2019)
Dual Ca2+-dependent gates in human Bestrophin1 underlie disease-causing mechanisms of gain-of-function mutations
Changyi Ji et al.
COMMUNICATIONS BIOLOGY (2019)
An enhanced CRISPR repressor for targeted mammalian gene regulation
Nan Cher Yeo et al.
NATURE METHODS (2018)
Clustered Regularly Interspaced Short Palindromic Repeats-Based Genome Surgery for the Treatment of Autosomal Dominant Retinitis Pigmentosa
Yi-Ting Tsai et al.
OPHTHALMOLOGY (2018)
ATP activates bestrophin ion channels through direct interaction
Yu Zhang et al.
NATURE COMMUNICATIONS (2018)
Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for BEST1 Mutations
Alec Kittredge et al.
JOVE-JOURNAL OF VISUALIZED EXPERIMENTS (2018)
Widespread Selection for Oncogenic Mutant Allele Imbalance in Cancer
Craig M. Bielski et al.
CANCER CELL (2018)
Anoctamin2 (TMEMI6B) forms the Ca2+-activated Cl- channel in the retinal pigment epithelium
Susanne Keckeis et al.
EXPERIMENTAL EYE RESEARCH (2017)
Bestrophin 1 and retinal disease
Adiv A. Johnson et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2017)
Patient-specific mutations impair BESTROPHIN1's essential role in mediating Ca2+-dependent CI- currents in human RPE
Yao Li et al.
ELIFE (2017)
Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases
Pablo Llavona et al.
GENES (2017)
b Allelic imbalance of somatic mutations in cancer genomes and transcriptomes
Je-Keun Rhee et al.
SCIENTIFIC REPORTS (2017)
Unilateral BEST1-Associated Retinopathy
Rashi Arora et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2016)
BESTROPHIN1 mutations cause defective chloride conductance in patient stem cell-derived RPE
Yasmin Moshfegh et al.
HUMAN MOLECULAR GENETICS (2016)
Expression of anoctamins in retinal pigment epithelium (RPE)
Rainer Schreiber et al.
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY (2016)
Allelic Imbalance Is a Prevalent and Tissue-Specific Feature of the Mouse Transcriptome
Stefan F. Pinter et al.
GENETICS (2015)
BEST1: the Best Target for Gene and Cell Therapies
Tingting Yang et al.
MOLECULAR THERAPY (2015)
NEW BEST1 MUTATIONS IN AUTOSOMAL RECESSIVE BESTROPHINOPATHY
Adrian T. Fung et al.
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES (2015)
Allelic Imbalance Is a Prevalent and Tissue-Specific Feature of the Mouse Transcriptome
Stefan F. Pinter et al.
GENETICS (2015)
An iCRISPR Platform for Rapid, Multiplexable, and Inducible Genome Editing in Human Pluripotent Stem Cells
Federico Gonzalez et al.
CELL STEM CELL (2014)
Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1
Adiv A. Johnson et al.
EXPERIMENTAL EYE RESEARCH (2014)
Structure and insights into the function of a Ca2+-activated Cl- channel
Veronica Kane Dickson et al.
NATURE (2014)
Screening and large-scale expression of membrane proteins in mammalian cells for structural studies
April Goehring et al.
NATURE PROTOCOLS (2014)
Preassociated apocalmodulin mediates Ca2+-dependent sensitization of activation and inactivation of TMEM16A/16B Ca2+-gated Cl- channels
Tingting Yang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
Structure and selectivity in bestrophin ion channels
Tingting Yang et al.
SCIENCE (2014)
Bio-inspired voltage-dependent calcium channel blockers
Tingting Yang et al.
NATURE COMMUNICATIONS (2013)
Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations
A. C. Cohn et al.
EYE (2011)
Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa
Alice E. Davidson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Directed Differentiation of Human Embryonic Stem Cells into Functional Retinal Pigment Epithelium Cells
Maria Idelson et al.
CELL STEM CELL (2009)
Biallelic mutation of BEST1 causes a distinct retinopathy in humans
Rosemary Burgess et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Molecular physiology of bestrophins: Multifunctional membrane proteins linked to best disease and other retinopathies
H. Criss Hartzell et al.
PHYSIOLOGICAL REVIEWS (2008)
Genetically encoded molecules for inducibly inactivating CaV channels
Tingting Yang et al.
NATURE CHEMICAL BIOLOGY (2007)
Confluent monolayers of cultured human fetal retinal pigment epithelium exhibit morphology and physiology of native tissue
Arvydas Maminishkis et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2006)
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC)
J Yardley et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2004)
Allelic variation in gene expression is common in the human genome
HS Lo et al.
GENOME RESEARCH (2003)
The vitelliform macular dystrophy protein defines a new family of chloride channels
H Sun et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
Small changes in expression affect predisposition to tumorigenesis
H Yan et al.
NATURE GENETICS (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)