A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1 (Q34452937)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21203346%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

title

A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1 (English)

1 reference

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19 January 2020

1 reference

8

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19 January 2020

author name string

Alice E Davidson

1

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19 January 2020

Panagiotis I Sergouniotis

2

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19 January 2020

Rosemary Burgess-Mullan

3

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19 January 2020

Nichola Hart-Holden

4

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19 January 2020

Sancy Low

5

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19 January 2020

Paul J Foster

6

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19 January 2020

Forbes D C Manson

7

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19 January 2020

Andrew R Webster

9

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19 January 2020

publication date

31 December 2010

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19 January 2020

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19 January 2020

volume

16

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19 January 2020

page(s)

2916-2922

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Genomic features defining exonic variants that modulate splicing

19 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013070

Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013070

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013070

Detailed analysis of retinal function and morphology in a patient with autosomal recessive bestrophinopathy (ARB).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013070

Bestrophin Cl- channels are highly permeable to HCO3-

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013070

Biallelic mutation of BEST1 causes a distinct retinopathy in humans

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013070

ISCEV standard for clinical pattern electroretinography--2007 update

6 July 2018

1 reference

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ISCEV Standard for Clinical Electro-oculography (EOG) 2006

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013070

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013070

Exon inclusion is dependent on predictable exonic splicing enhancers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013070

Systematic identification and analysis of exonic splicing silencers.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013070

RESCUE-ESE identifies candidate exonic splicing enhancers in vertebrate exons

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013070

Computational definition of sequence motifs governing constitutive exon splicing.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013070

ESEfinder: A web resource to identify exonic splicing enhancers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013070

Listening to silence and understanding nonsense: exonic mutations that affect splicing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013070

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013070

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013070

Bestrophin gene mutations in patients with Best vitelliform macular dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013070

Identification of the gene responsible for Best macular dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013070

Improved splice site detection in Genie

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013070

Prediction of human mRNA donor and acceptor sites from the DNA sequence.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013070

ISCEV Standard for full-field clinical electroretinography (2008 update).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013070

Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013070

Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013070

Differential Macular and Peripheral Expression of Bestrophin in Human Eyes and Its Implication for Best Disease

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3013070

9 December 2018

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21203346%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

PubMed publication ID

21203346

1 reference