(Q37593044)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163243%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

title

Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2 (English)

1 reference

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28 February 2020

1 reference

7

1 reference

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28 February 2020

Isabelle Audo

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163243%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

1

Stylianos Michalakis

1 reference

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28 February 2020

20

Martin Biel

1 reference

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28 February 2020

author name string

Lior Shaltiel

2

1 reference

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28 February 2020

Vithiyanjali Sothilingam

3

1 reference

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28 February 2020

Susanne Koch

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163243%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Verena Schludi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163243%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Stefanie Krause

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163243%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Marie-Elise Lancelot

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163243%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Christian Hamel

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163243%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Isabelle Meunier

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163243%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Markus N Preising

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163243%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Christoph Friedburg

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163243%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Birgit Lorenz

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163243%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Nawal Zabouri

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163243%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Silke Haverkamp

16

1 reference

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28 February 2020

Marina Garcia Garrido

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163243%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Naoyuki Tanimoto

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163243%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Mathias W Seeliger

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163243%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Christian A Wahl-Schott

21

1 reference

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28 February 2020

publication date

26 October 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163243%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

published in

Human Molecular Genetics

1 reference

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28 February 2020

volume

23

1 reference

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28 February 2020

issue

6

1 reference

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28 February 2020

page(s)

1538-1550

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163243%20AND%20SRC:MED&resulttype=core&format=json

A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family

28 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929091

The diverse roles of ribbon synapses in sensory neurotransmission

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929091

Fundus autofluorescence in carriers of choroideremia and correlation with electrophysiologic and psychophysical data

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929091

Modified Ca(v)1.4 expression in the Cacna1f(nob2) mouse due to alternative splicing of an ETn inserted in exon 2

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929091

A novel CACNA1F gene mutation causes Aland Island eye disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929091

Switching off calcium-dependent inactivation in L-type calcium channels by an autoinhibitory domain

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929091

The nob2 mouse, a null mutation in Cacna1f: anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929091

X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929091

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929091

Synaptic transmission at retinal ribbon synapses

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929091

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929091

Molecular dissection of the photoreceptor ribbon synapse: physical interaction of Bassoon and RIBEYE is essential for the assembly of the ribbon complex

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929091

Impaired channel targeting and retinal degeneration in mice lacking the cyclic nucleotide-gated channel subunit CNGB1

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929091

Fundus autofluorescence in carriers of X-linked recessive retinitis pigmentosa associated with mutations in RPGR, and correlation with electrophysiological and psychophysical data

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929091

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929091

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929091

Immunocytochemical description of five bipolar cell types of the mouse retina

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929091

The role of tangential dispersion in retinal mosaic formation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929091

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929091

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929091

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929091

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929091

Radial and tangential dispersion patterns in the mouse retina are cell-class specific

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929091

Chemical chaperone TUDCA preserves cone photoreceptors in a mouse model of Leber congenital amaurosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929091

Clonal boundary analysis in the developing retina using X-inactivation transgenic mosaic mice

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929091

Gene therapy restores vision and delays degeneration in the CNGB1(-/-) mouse model of retinitis pigmentosa.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929091

Vision tests in the mouse: Functional phenotyping with electroretinography

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929091

Effects of presynaptic mutations on a postsynaptic Cacna1s calcium channel colocalized with mGluR6 at mouse photoreceptor ribbon synapses.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929091

Early afferent signaling in the outer plexiform layer regulates development of horizontal cell morphology

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929091

The role of X inactivation and cellular mosaicism in women's health and sex-specific diseases.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929091

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.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929091

Impaired opsin targeting and cone photoreceptor migration in the retina of mice lacking the cyclic nucleotide-gated channel CNGA3.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929091

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929091

The presynaptic active zone protein bassoon is essential for photoreceptor ribbon synapse formation in the retina

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929091

New views on RPE65 deficiency: the rod system is the source of vision in a mouse model of Leber congenital amaurosis.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929091

Neurite outgrowth from bipolar and horizontal cells after experimental retinal detachment.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3929091

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

1 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24163243

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Monoclonal antibodies to rhodopsin: characterization, cross-reactivity, and application as structural probes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24163243

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The absence of Complexin 3 and Complexin 4 differentially impacts the ON and OFF pathways in mouse retina

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24163243

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDT541

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163243%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163243%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

PubMed publication ID

24163243

1 reference