(Q24302179)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897456%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

title

A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897456%20AND%20SRC:MED&resulttype=core&format=json

Calcium voltage-gated channel subunit alpha1 F

11 January 2020

main subject

1 reference

GOA release 2020-03-11

voltage

0 references

author

Ariana Hemara-Wahanui

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897456%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Peter Dearden

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897456%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Shu-Biao Wu

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897456%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Joerg Striessnig

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897456%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

author name string

Stanislav Berjukow

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897456%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Carolyn I Hope

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897456%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Jane Wilson-Wheeler

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897456%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Dianne M Sharp

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897456%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Patricia Lundon-Treweek

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897456%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Gillian M Clover

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897456%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Jean-Charles Hoda

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897456%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Rainer Marksteiner

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897456%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Steffen Hering

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897456%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Marion A Maw

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897456%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

language of work or name

English

0 references

publication date

16 May 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897456%20AND%20SRC:MED&resulttype=core&format=json

Proceedings of the National Academy of Sciences of the United States of America

11 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897456%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

volume

102

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897456%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

issue

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897456%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

page(s)

7553-7558

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897456%20AND%20SRC:MED&resulttype=core&format=json

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness

11 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=1140436

Positional cloning of the gene for X-linked retinitis pigmentosa 2

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1140436

Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1140436

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1140436

Evidence for genetic heterogeneity in X-linked congenital stationary night blindness.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1140436

The electroretinographic diagnosis of the incomplete form of congenital stationary night blindness

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1140436

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1140436

A comprehensive genetic map of the human genome based on 5,264 microsatellites

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1140436

Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1140436

Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1140436

Congenital stationary night blindness type 2 mutations S229P, G369D, L1068P, and W1440X alter channel gating or functional expression of Ca(v)1.4 L-type Ca2+ channels

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1140436

The CACNA1F gene encodes an L-type calcium channel with unique biophysical properties and tissue distribution

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1140436

Cav1.4alpha1 subunits can form slowly inactivating dihydropyridine-sensitive L-type Ca2+ channels lacking Ca2+-dependent inactivation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1140436

Mutations in the CACNA1F and NYX genes in British CSNBX families

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1140436

Role of the beta(2) subunit of voltage-dependent calcium channels in the retinal outer plexiform layer

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1140436

Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1140436

A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1140436

The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1140436

Structure and regulation of voltage-gated Ca2+ channels

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1140436

Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1140436

Three new familial hemiplegic migraine mutants affect P/Q-type Ca(2+) channel kinetics

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1140436

Expression of the alpha1F calcium channel subunit by photoreceptors in the rat retina

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1140436

Cloning and expression of a neuronal calcium channel beta subunit

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1140436

Melatonin as a chronobiotic.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1140436

Genetically engineered mice with an additional class of cone photoreceptors: implications for the evolution of color vision

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1140436

Identification of inactivation determinants in the domain IIS6 region of high voltage-activated calcium channels.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1140436

Regional distribution and cellular expression of tryptophan hydroxylase messenger RNA in postmortem human brainstem and pineal gland

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1140436

Shaker potassium channel gating. II: Transitions in the activation pathway

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1140436

Sequence and expression of mRNAs encoding the alpha 1 and alpha 2 subunits of a DHP-sensitive calcium channel

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1140436

Modeling of the outer vestibule and selectivity filter of the L-type Ca2+ channel

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1140436

Competence, specification and commitment in otic placode induction.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1140436

Clonal expansion and cell dispersion in the developing mouse retina

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1140436

Stimulation of a nicotinic ACh receptor causes depolarization and activation of L-type Ca2+ channels in rat pinealocytes.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1140436

Congenital stationary night blindness with negative electroretinogram. A new classification

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1140436

Abnormalities of the long flash ERG in congenital stationary night blindness of the Schubert-Bornschein type.

30 May 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0501907102

Molecular identity, synaptic localization, and physiology of calcium channels in retinal bipolar cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0501907102

Clinical manifestations of a unique X-linked retinal disorder in a large New Zealand family with a novel mutation in CACNA1F, the gene responsible for CSNB2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0501907102

Endogenous calcium channels in human embryonic kidney (HEK293) cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0501907102

Retinopathy and attenuated circadian entrainment in Crx-deficient mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0501907102

Selective transmission of single photon responses by saturation at the rod-to-rod bipolar synapse

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0501907102

The unitary event amplitude of mouse retinal on-cone bipolar cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0501907102

Diurnal actions of melatonin on epileptic activity in hippocampal slices of rats

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0501907102

Nocturnal excretion of 6-sulphatoxymelatonin in children and adolescents with autistic disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0501907102

Molecular determinants of voltage-dependent slow inactivation of the Ca2+ channel.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0501907102

A gating hinge in Na+ channels; a molecular switch for electrical signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0501907102

Signal clipping by the rod output synapse

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0501907102

Energetics of pore opening in a voltage-gated K(+) channel

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15897456

12 December 2020

inferred from PubMed ID database lookup

ERGs in female carriers of incomplete congenital stationary night blindness (I-CSNB). A family report

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15897456

12 December 2020

inferred from PubMed ID database lookup

Gain of rod to horizontal cell synaptic transfer: relation to glutamate release and a dihydropyridine-sensitive calcium current

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15897456

12 December 2020

inferred from PubMed ID database lookup

The role of the sarcolemmal Ca2+-ATPase in the pH transients associated with contraction in rat smooth muscle

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0501907102

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1073/PNAS.0501907102

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897456%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

0 references

release_6vfayhl6yffqtpohodqwnkvbae

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/6vfayhl6yffqtpohodqwnkvbae

24 November 2022

mapped directly with Wikidata item

OpenCitations bibliographic resource ID

1046178

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1046178

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897456%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

PubMed publication ID

15897456

1 reference