(Q24678578)

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Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans

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28 December 2019

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Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16909397%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

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9

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28 December 2019

12

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28 December 2019

Michel Michaelides

3

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Michel Michaelides

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28 December 2019

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Huimin Wu

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28 December 2019

Jill A Cowing

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28 December 2019

Susan E Wilkie

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28 December 2019

Glen Jeffery

5

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28 December 2019

Sharon A Jenkins

6

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28 December 2019

Viktoria Mester

7

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28 December 2019

Alan C Bird

8

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28 December 2019

Graham E Holder

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28 December 2019

Anthony T Moore

11

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28 December 2019

Andrew R Webster

13

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28 December 2019

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publication date

24 July 2006

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28 December 2019

American Journal of Human Genetics

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28 December 2019

79

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28 December 2019

3

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28 December 2019

574-579

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28 December 2019

KCNQ1 gain-of-function mutation in familial atrial fibrillation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559534

7 April 2017

Obligatory heterotetramerization of three previously uncharacterized Kv channel alpha-subunits identified in the human genome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559534

7 April 2017

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559534

7 April 2017

A detailed phenotypic study of "cone dystrophy with supernormal rod ERG".

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559534

28 September 2017

Sequence-Function Analysis of the K+-Selective Family of Ion Channels Using a Comprehensive Alignment and the KcsA Channel Structure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559534

28 September 2017

Molecular and cellular mechanisms of cardiac arrhythmias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559534

28 September 2017

Localization of potassium channels in the retina

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559534

28 September 2017

After transduction: response shaping and control of transmission by ion channels of the photoreceptor inner segments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559534

28 September 2017

Characterization of a voltage-gated K+ channel that accelerates the rod response to dim light

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559534

28 September 2017

A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559534

28 November 2018

Cone dystrophy, nyctalopia, and supernormal rod responses. A new retinal degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/16909397

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rod electroretinograms in an elevated cyclic guanosine monophosphate-type human retinal degeneration. Comparison with retinitis pigmentosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/16909397

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effects of IBMX on the rod ERG of the isolated perfused cat eye: Antagonism with light, calcium orl-cis-diltiazem

1 reference

https://pubmed.ncbi.nlm.nih.gov/16909397

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Retinal cone dysfunction of supernormal rod ERG type. Five new cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/16909397

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cone dysfunction and supernormal scotopic electroretinogram with a high-intensity stimulus. A report of three cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/16909397

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sites of disease action in a retinal dystrophy with supernormal and delayed rod electroretinogramb-waves

1 reference

https://pubmed.ncbi.nlm.nih.gov/16909397

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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Consolidated OpenCitations Corpus – April 2017

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28 December 2019

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Consolidated OpenCitations Corpus – April 2017

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16909397%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

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28 December 2019

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