(Q36481924)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23115240%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

title

Functional analysis of missense mutations in Kv8.2 causing cone dystrophy with supernormal rod electroretinogram (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23115240%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23115240%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

David M Hunt

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23115240%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

author name string

Susan E Wilkie

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23115240%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Joseph T Tebbs-Warner

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23115240%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Bradley J Jarvis

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23115240%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Linn Gallasch

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23115240%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Martin Stocker

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23115240%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

language of work or name

English

0 references

publication date

31 October 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23115240%20AND%20SRC:MED&resulttype=core&format=json

Journal of Biological Chemistry

16 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23115240%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

volume

287

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23115240%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

issue

52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23115240%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

page(s)

43972-43983

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23115240%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

16 February 2020

ImageQuant

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3527980/fullTextXML

inferred from PubMed Central ID database lookup

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3527980/fullTextXML

inferred from PubMed Central ID database lookup

cites work

NIH Image to ImageJ: 25 years of image analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Electrically silent Kv subunits: their molecular and functional characteristics

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Conserved negative charges in the N-terminal tetramerization domain mediate efficient assembly of Kv2.1 and Kv2.1/Kv6.4 channels.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Mutation of histidine 105 in the T1 domain of the potassium channel Kv2.1 disrupts heteromerization with Kv6.3 and Kv6.4

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Proteomic analyses of K(v)2.1 channel phosphorylation sites determining cell background specific differences in function

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Removal of phospho-head groups of membrane lipids immobilizes voltage sensors of K+ channels

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

The nonsense-mediated decay RNA surveillance pathway

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Graded regulation of the Kv2.1 potassium channel by variable phosphorylation.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Fluorescence measurements reveal stoichiometry of K+ channels formed by modulatory and delayed rectifier alpha-subunits

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Ion channels: function unravelled by dysfunction

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Voltage-gated channels and calcium homeostasis in mammalian rod photoreceptors

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

The voltage-gated potassium channels and their relatives

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Surface expression and single channel properties of KCNQ2/KCNQ3, M-type K+ channels involved in epilepsy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

An artificial tetramerization domain restores efficient assembly of functional Shaker channels lacking T1

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Structural and functional characterization of Kv6.2 a new gamma-subunit of voltage-gated potassium channel

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Heteromeric assembly of Kv2.1 with Kv9.3: effect on the state dependence of inactivation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Zn2+-binding and molecular determinants of tetramerization in voltage-gated K+ channels

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Inactivation of Kv2.1 Potassium Channels

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Characterization of ether-à-go-go channels present in photoreceptors reveals similarity to IKx, a K+ current in rod inner segments

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

New modulatory alpha subunits for mammalian Shab K+ channels

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Identification and functional characterization of a K+ channel alpha-subunit with regulatory properties specific to brain

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Modes of regulation of shab K+ channel activity by the Kv8.1 subunit.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Kv2.1 and electrically silent Kv6.1 potassium channel subunits combine and express a novel current

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Kv8.1, a new neuronal potassium channel subunit with specific inhibitory properties towards Shab and Shaw channels

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Structural determinant for assembly of mammalian K+ channels

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Engineering hybrid genes without the use of restriction enzymes: gene splicing by overlap extension

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Blockade of Permeation by Potassium but Normal Gating of the G628S Nonconducting hERG Channel Mutant

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Voltage-gated K+ channels contain multiple intersubunit association sites

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Heteromultimeric channels formed by rat brain potassium-channel proteins

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Heteropolymeric potassium channels expressed in Xenopus oocytes from cloned subunits

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Alteration and restoration of K+ channel function by deletions at the N- and C-termini

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Evidence for the formation of heteromultimeric potassium channels in Xenopus oocytes

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Specification of subunit assembly by the hydrophilic amino-terminal domain of the Shaker potassium channel

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Time- and voltage-dependent ionic components of the rod response

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

High-resolution optical coherence tomography imaging in KCNV2 retinopathy.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

"Cone dystrophy with supernormal rod electroretinogram": a comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiology

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Characterization of the heteromeric potassium channel formed by kv2.1 and the retinal subunit kv8.2 in Xenopus oocytes

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Enzymatic activation of voltage-gated potassium channels

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

A small domain in the N terminus of the regulatory alpha-subunit Kv2. 3 modulates Kv2.1 potassium channel gating

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Kv2.1/Kv9.3, an ATP-dependent delayed-rectifier K+ channel in pulmonary artery myocytes.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Subunit assembly and domain analysis of electrically silent K+ channel alpha-subunits of the rat Kv9 subfamily

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

Modulation of potassium channel gating by coexpression of Kv2.1 with regulatory Kv5.1 or Kv6.1 α-subunits

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527980

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

21 September 2018

1 reference

12 December 2020

Ionic conductances of monkey solitary cone inner segments

1 reference

12 December 2020

Molecular recognition and assembly sequences involved in the subfamily-specific assembly of voltage-gated K+ channel subunit proteins

1 reference

12 December 2020

Properties and functional roles of hyperpolarization-gated currents in guinea-pig retinal rods

1 reference

12 December 2020

Neurological Channelopathies

1 reference

12 December 2020

Large deletions of theKCNV2gene are common in patients with cone dystrophy with supernormal rod response

1 reference

12 December 2020

'Cone dystrophy with supranormal rod response' in children

1 reference

12 December 2020

Identifiers

DOI

10.1074/JBC.M112.388033

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23115240%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23115240%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

PubMed publication ID

23115240

1 reference