ArticleeLife2021
Distinct expression requirements and rescue strategies for
Open access · goldAbstract readComparative Study
In one paragraph
Article in eLife, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
1.1field-weighted citation impact, top 23% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed, 20 citations in OpenAlex.
- Review of the clinical electrooculogram - Part 2: the bestrophinopathies and modified protocols.Documenta ophthalmologica. Advances in ophthalmology · 2026Review
- Allele-specific suppression of pathogenic bestrophin-1 transcripts by CRISPR/Cas9-mediated genome editing.Genome medicine · 2026Article
- Review
- From BEST1 mutations to retinal regeneration: integrating stem cell-derived RPE models and gene correction strategies.Frontiers in cell and developmental biology · 2026Review
- Gene Therapy Strategies for the Treatment of Bestrophinopathies.International journal of molecular sciences · 2025Review
- Neurotransmitter-bound bestrophin channel structures reveal small molecule drug targeting sites for disease treatment.Nature communications · 2024Article
- Ion channels research in hPSC-RPE cells: bridging benchwork to clinical applications.Journal of translational medicine · 2024Review
- GAD65 tunes the functions of Best1 as a GABA receptor and a neurotransmitter conducting channel.Nature communications · 2024Article
- Article
- Structures and gating mechanisms of human bestrophin anion channels.Nature communications · 2022Article
- Impaired Bestrophin Channel Activity in an iPSC-RPE Model of Best Vitelliform Macular Dystrophy (BVMD) from an Early Onset Patient Carrying the P77S Dominant Mutation.International journal of molecular sciences · 2022Article
- First Pediatric Case of Autosomal Recessive Homozygotic Bestrophinopathy due to Homozygous Mutation c.187G>C p. in Two Brothers.Journal of clinical medicine research · 2022Article
- Structure and Function of the Bestrophin family of calcium-activated chloride channels.Channels (Austin, Tex.) · 2021Review
- Gene therapy in bestrophinopathies: Insights from preclinical studies in preparation for clinical trials.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietyArticle
- Multimodal Imaging and Dark-Adapted Chromatic Perimetry in BEST1 Vitelliform Macular Dystrophy: Identification of Outcome Measurements.Ophthalmology scienceArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 4 institutions in 2 countries.
Qingqing Zhao *Eye Center, Renmin Hospital of Wuhan University, Wuhan, China.
Yang Kong *Department of Ophthalmology, Vagelos College of Physicians & Surgeons, Columbia University, New York, United States.
Alec KittredgeDepartment of Pharmacology, Columbia University, New York, United States.ORCID 0000-0002-8140-9267
Yao LiDepartment of Ophthalmology, Vagelos College of Physicians & Surgeons, Columbia University, New York, United States.
Yin ShenEye Center, Medical Research Institute, Renmin Hospital, Wuhan University, Wuhan, China.ORCID 0000-0002-4201-3948
Yu ZhangDepartment of Ophthalmology, Vagelos College of Physicians & Surgeons, Columbia University, New York, United States.
Stephen H TsangJonas Children's Vision Care, Departments of Ophthalmology and Pathology & Cell Biology, Edward S. Harkness Eye Institute, Institute of Human Nutrition and Columbia Stem Cell Initiative, New York Presbyterian Hospital/Columbia University Irving Medical Center, New York, United States.
Tingting YangDepartment of Pharmacology and Physiology, University of Rochester, School of Medicine and Dentistry, Rochester, United States.ORCID 0000-0002-5220-588X
Columbia University · USWuhan University · CNNewYork–Presbyterian Hospital · USUniversity of Rochester · US
Funding
Tumor Biology and Microenvironment ProgramP30CA013696 · NCI · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI Anil K Rustgi · 1985 to 2026
$115.3MInstrumentation, Fabrication, and Design CoreP30EY019007 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Xin Zhang · 2010 to 2026
$12.9MTherapeutic gene editing and multimodal imaging in juvenile macular degeneration R24EY028758 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI AUDO , ISABELLE, SPARROW, JANET RUTHE · 2020 to 2024
$10.9MThe Jackson Laboratory Center for Precision Genetics: From New Models to Novel TherapeuticsU54OD020351 · OD · JACKSON LABORATORY · PI LUTZ, CATHLEEN M · 2015 to 2019
$10.2MTranslational Gene Therapy for CNGB1 Retinitis PigmentosaR24EY027285 · NEI · MICHIGAN STATE UNIVERSITY · PI HAUSWIRTH, WILLIAM W, MICHALAKIS, STYLIANOS · 2018 to 2022
$8.6MToward mechanism- and gene-based therapies for retinal degenerationR01EY018213 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Stephen H Tsang · 2008 to 2026
$6.6MGene Silencing and Gene Editing in PhototransductionR01EY024698 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Stephen H Tsang · 2015 to 2026
$4.7MMechanistic Characterization of Calcium-Activated Chloride Channels in Retinal Pigment EpitheliumR01GM127652 · NIGMS · UNIVERSITY OF ROCHESTER · PI YANG, TINGTING · 2018 to 2022
$1.7MMechanistic Studies on Regenerative Medicine Approaches to Childhood BlindnessR01EY026682 · NEI · UNIVERSITY OF IOWA · PI BASSUK, ALEXANDER G, MAHAJAN, VINIT B · 2016 to 2019
$1.6MPrecision genome surgery in autologous stem cell transplantU01EY030580 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI SPARROW, JANET RUTHE, TSANG, STEPHEN H · 2019 to 2020
$810kEvaluating GWAS AMD Candidate Loci by Gene Editing in Human iPS CellsR21AG050437 · NIA · UNIVERSITY OF IOWA · PI BASSUK, ALEXANDER G, MAHAJAN, VINIT B · 2015 to 2016
$431kNCI NIH HHS P30 CA013696NEI NIH HHS P30 EY019007NEI NIH HHS R01 EY018213NEI NIH HHS R01 EY024698NEI NIH HHS R01 EY026682NEI NIH HHS R24 EY027285NEI NIH HHS R24 EY028758NEI NIH HHS U01 EY030580NIA NIH HHS R21 AG050437NIGMS NIH HHS R01 GM127652NIH HHS U54 OD020351
Abstract
Genetic mutation of the human
Indexed as
Gain of Function MutationLoss of Function MutationBestrophinsChloridesCRISPR-Cas SystemsGenetic Predisposition to DiseaseGenetic TherapyHEK293 CellsHumansMembrane PotentialsPhenotypeRetinal DegenerationRetinal Pigment EpitheliumBEST1 protein, humanBestrophinsChloridesbestrophin-1 (BEST1)calcium-activated chloride channel (CaCC)gain-of-functiongene therapyhumanmolecular biophysicsretinal diseasesretinal pigment epithelium (RPE)structural biology
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY
Read underepoch 390
Registered trials
None linked
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.