(Q39247380)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139242%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

title

iPS cell modeling of Best disease: insights into the pathophysiology of an inherited macular degeneration (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139242%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

1 reference

13

1 reference

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17 February 2020

Bikash R Pattnaik

18

1 reference

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17 February 2020

author name string

Ruchira Singh

1

1 reference

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17 February 2020

Wei Shen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139242%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

David Kuai

3

1 reference

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17 February 2020

Jessica M Martin

4

1 reference

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17 February 2020

Xiangrong Guo

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139242%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Molly A Smith

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139242%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Enio T Perez

7

1 reference

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17 February 2020

M Joseph Phillips

8

1 reference

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17 February 2020

Joseph M Simonett

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139242%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Kyle A Wallace

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139242%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Amelia D Verhoeven

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139242%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Elizabeth E Capowski

12

1 reference

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17 February 2020

Yingnan Yin

14

1 reference

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17 February 2020

Patrick J Halbach

15

1 reference

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17 February 2020

Gerald A Fishman

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139242%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Lynda S Wright

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139242%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

David M Gamm

19

1 reference

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17 February 2020

publication date

8 November 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139242%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

published in

Human Molecular Genetics

1 reference

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17 February 2020

volume

22

1 reference

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17 February 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139242%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

page(s)

593-607

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139242%20AND%20SRC:MED&resulttype=core&format=json

Blood-derived human iPS cells generate optic vesicle-like structures with the capacity to form retinal laminae and develop synapses

17 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Embryonic stem cell trials for macular degeneration: a preliminary report

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Probing sporadic and familial Alzheimer's disease using induced pluripotent stem cells

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Diseases in a dish: modeling human genetic disorders using induced pluripotent cells

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Mitochondrial dysfunction in retinal diseases

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Optic vesicle-like structures derived from human pluripotent stem cells facilitate a customized approach to retinal disease treatment.

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Modelling schizophrenia using human induced pluripotent stem cells

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Genetic correction and analysis of induced pluripotent stem cells from a patient with gyrate atrophy.

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Modelling the long QT syndrome with induced pluripotent stem cells

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

The role of calcium signaling in phagocytosis.

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Bestrophins and retinopathies

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Oxidative stress and the ubiquitin proteolytic system in age-related macular degeneration

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Protective effects of human iPS-derived retinal pigment epithelium cell transplantation in the retinal dystrophic rat

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Generation of pluripotent stem cells from patients with type 1 diabetes

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Modeling early retinal development with human embryonic and induced pluripotent stem cells

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Derivation of functional retinal pigmented epithelium from induced pluripotent stem cells

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Functional roles of bestrophins in ocular epithelia

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

The spectrum of ocular phenotypes caused by mutations in the BEST1 gene

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

A protocol for the culture and differentiation of highly polarized human retinal pigment epithelial cells

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Induced pluripotent stem cells from a spinal muscular atrophy patient

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Disease-specific induced pluripotent stem cells

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Generation of human-induced pluripotent stem cells

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Bestrophin Cl- channels are highly permeable to HCO3-

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Confluent monolayers of cultured human fetal retinal pigment epithelium exhibit morphology and physiology of native tissue.

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

The light peak of the electroretinogram is dependent on voltage-gated calcium channels and antagonized by bestrophin (best-1)

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

RPE lipofuscin and its role in retinal pathobiology

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Fundus autofluorescence and fundus perimetry in the junctional zone of geographic atrophy in patients with age-related macular degeneration

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Aquaporin-1 channels in human retinal pigment epithelium: role in transepithelial water movement

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

The vitelliform macular dystrophy protein defines a new family of chloride channels

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Identification of the gene responsible for Best macular dystrophy

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Best's vitelliform dystrophy

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Hereditary maculardegeneration (HMD) in 246 cases traced to one gene-source in central Sweden

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Differentiation of human pluripotent stem cells to retinal pigmented epithelium in defined conditions using purified extracellular matrix proteins

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Molecular signature of primary retinal pigment epithelium and stem-cell-derived RPE cells

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Human induced pluripotent stem-derived retinal pigment epithelium (RPE) cells exhibit ion transport, membrane potential, polarized vascular endothelial growth factor secretion, and gene expression pattern similar to native RPE.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

ER-localized bestrophin 1 activates Ca2+-dependent ion channels TMEM16A and SK4 possibly by acting as a counterion channel.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Dysfunction of the retinal pigment epithelium with age: increased iron decreases phagocytosis and lysosomal activity

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Elucidating the phenomenon of HESC-derived RPE: anatomy of cell genesis, expansion and retinal transplantation.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Lentiviral vector-mediated genetic modification of human neural progenitor cells for ex vivo gene therapy

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Expression of bestrophin-1, the product of the VMD2 gene, modulates voltage-dependent Ca2+ channels in retinal pigment epithelial cells

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Autofluorescence characteristics of early, atrophic, and high-risk fellow eyes in age-related macular degeneration

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Late development of vitelliform lesions and flecks in a patient with best disease: clinicopathologic correlation

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Isolation and provisional identification of plasma membrane populations from cultured human retinal pigment epithelium

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Modeling brain disease in a dish: really?

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Induction of retinal pigment epithelial cells from monkey iPS cells.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Directed differentiation of human induced pluripotent stem cells: a retina perspective.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

The presence of bestrophin-1 modulates the Ca2+ recruitment from Ca2+ stores in the ER.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Volume sensitivity of the bestrophin family of chloride channels

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Extracellular ATP activates calcium signaling, ion, and fluid transport in retinal pigment epithelium.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542866

Enhanced accumulation of A2E in individuals homozygous or heterozygous for mutations in BEST1 (VMD2)

21 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDS469

Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDS469

Clinical expression of Best's vitelliform macular dystrophy in Swedish families with mutations in the bestrophin gene

21 January 2018

1 reference

12 December 2020

Long-term Evaluation of Patients with Best's Vitelliform Dystrophy

1 reference

12 December 2020

A histopathologic study of Best's macular dystrophy

1 reference

12 December 2020

Autosomal dominant cone-rod dystrophy associated with a Val200Glu mutation of the peripherin/RDS gene

1 reference

12 December 2020

Visual acuity in patients with best vitelliform macular dystrophy

1 reference

12 December 2020

The Iron Carrier Transferrin Is Upregulated in Retinas from Patients with Age-Related Macular Degeneration

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDS469

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139242%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139242%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

PubMed publication ID

23139242

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139242%20AND%20SRC:MED&resulttype=core&format=json