A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation. (Q24302179)

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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

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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

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11 January 2020

Peter Dearden

4

1 reference

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11 January 2020

Shu-Biao Wu

5

1 reference

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11 January 2020

Joerg Striessnig

11

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11 January 2020

author name string

Stanislav Berjukow

2

1 reference

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11 January 2020

Carolyn I Hope

3

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11 January 2020

Jane Wilson-Wheeler

6

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11 January 2020

Dianne M Sharp

7

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11 January 2020

Patricia Lundon-Treweek

8

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11 January 2020

Gillian M Clover

9

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11 January 2020

Jean-Charles Hoda

10

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11 January 2020

Rainer Marksteiner

12

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11 January 2020

Steffen Hering

13

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11 January 2020

Marion A Maw

14

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11 January 2020

language of work or name

English

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publication date

16 May 2005

1 reference

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

11 January 2020

published in

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11 January 2020

volume

102

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11 January 2020

issue

21

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11 January 2020

page(s)

7553-7558

1 reference

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

11 January 2020

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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

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

19 March 2017

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

19 March 2017

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

19 March 2017

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

19 March 2017

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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

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

19 March 2017

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

19 March 2017

1 reference

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Mutations in the CACNA1F and NYX genes in British CSNBX families

19 March 2017

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

19 March 2017

1 reference

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

19 March 2017

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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

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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

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Structure and regulation of voltage-gated Ca2 channels

19 March 2017

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

19 March 2017

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

19 March 2017

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

19 March 2017

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27 September 2017

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30 May 2018

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30 May 2018

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30 May 2018

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30 May 2018

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21 January 2018

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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

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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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/PNAS.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 AND SRC:MED&resulttype=core&format=json

11 January 2020

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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 AND SRC:MED&resulttype=core&format=json

11 January 2020

PubMed publication ID

15897456

1 reference