Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations-Reference-Cited by-同舟云学术

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Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations

Published:2020-05-01 Issue:5 Volume:138 Page:544
ISSN:2168-6165
Container-title:JAMA Ophthalmology
language:en
Short-container-title:JAMA Ophthalmol

Author:

Shah Mital¹²,Broadgate Suzanne²,Shanks Morag³,Clouston Penny³,Yu Jing²,MacLaren Robert E.¹²,Németh Andrea H.⁴⁵,Halford Stephanie²,Downes Susan M.¹²

Affiliation:

1. Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom

2. Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom

3. Oxford Medical Genetics Laboratories, Churchill Hospital, Oxford, United Kingdom

4. Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom

5. Oxford Centre for Genomic Medicine, Oxford, United Kingdom

Publisher

American Medical Association (AMA)

Subject

Ophthalmology

Link

https://jamanetwork.com/journals/jamaophthalmology/articlepdf/2763870/jamaophthalmology_shah_2020_oi_200020.pdf

Reference35 articles.

1. Bestrophin 1 and retinal disease.;Johnson;Prog Retin Eye Res,2017

2. Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium.;Marmorstein;Proc Natl Acad Sci U S A,2000

3. Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies.;Hartzell;Physiol Rev,2008

4. Insertion and topology of normal and mutant bestrophin-1 in the endoplasmic reticulum membrane.;Milenkovic;J Biol Chem,2007

5. BEST1 protein stability and degradation pathways differ between autosomal dominant Best disease and autosomal recessive bestrophinopathy accounting for the distinct retinal phenotypes.;Milenkovic;Hum Mol Genet,2018

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1. Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort;Ophthalmology Retina;2024-07

2. Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3500 Inherited Retinal Disease Patients from the United Kingdom;2024-03-28

3. Clinical Visual Electrophysiology: A Tool for Studying Inherited Retinal Disorders;Essentials in Ophthalmology;2024

4. Adult-onset foveomacular vitelliform dystrophy: epidemiology, pathophysiology, imaging, and prognosis;Frontiers in Ophthalmology;2023-08-10

5. Stargardt-like Clinical Characteristics and Disease Course Associated with Variants in the WDR19 Gene;Genes;2023-01-22

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