(Q24306524)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17033974%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

case report

0 references

title

Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17033974%20AND%20SRC:MED&resulttype=core&format=json

Calcium voltage-gated channel auxiliary subunit alpha2delta 4

20 December 2019

main subject

1 reference

detection of light stimulus involved in visual perception

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17033974%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Eberhart Zrenner

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17033974%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Susanne Kohl

10

1 reference

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20 December 2019

7

Bernd Wissinger

1 reference

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20 December 2019

author name string

Katharina Agnes Wycisk

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17033974%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Silke Feil

3

1 reference

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20 December 2019

Mariana Wittmer

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17033974%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Ursula Forster

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17033974%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

John Neidhardt

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17033974%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Robert Wilke

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17033974%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Wolfgang Berger

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17033974%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

language of work or name

English

0 references

publication date

27 September 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17033974%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

20 December 2019

published in

1 reference

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20 December 2019

volume

79

1 reference

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20 December 2019

issue

5

1 reference

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20 December 2019

page(s)

973-977

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17033974%20AND%20SRC:MED&resulttype=core&format=json

Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness

20 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698577

Essential role of Ca2+-binding protein 4, a Cav1.4 channel regulator, in photoreceptor synaptic function

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698577

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=1698577

Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse 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=1698577

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=1698577

Expansion of calcium microdomains regulates fast exocytosis at a ribbon synapse

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698577

Nonsense-mediated decay approaches the clinic

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698577

Auxiliary subunits: essential components of the voltage-gated calcium channel complex.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698577

Functional interaction of auxiliary subunits and synaptic proteins with Ca(v)1.3 may impart hair cell Ca2+ current properties

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698577

Effects of the dihydropyridine receptor subunits gamma and alpha2delta on the kinetics of heterologously expressed L-type Ca2+ 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=1698577

Structural requirement of the calcium-channel subunit alpha2delta for gabapentin binding

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698577

Cloning and deletion mutagenesis of the alpha2 delta calcium channel subunit from porcine cerebral cortex. Expression of a soluble form of the protein that retains [3H]gabapentin binding activity

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698577

Dissection of functional domains of the voltage-dependent Ca2+ channel alpha2delta subunit.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698577

Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698577

Functional characterization of the L-type Ca2+ channel Cav1.4alpha1 from mouse retina

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698577

Establishment of the concept of new clinical entities--complete and incomplete form of congenital stationary night blindness

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698577

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698577

Standard for clinical electroretinography (1999 update). International Society for Clinical Electrophysiology of Vision.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698577

Dual function of the voltage-dependent Ca2+ channel alpha 2 delta subunit in current stimulation and subunit interaction.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698577

Characteristic ERG-flicker anomaly in incomplete congenital stationary night blindness

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17033974

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/508944

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17033974%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17033974%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

PubMed publication ID

17033974

2 references