Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2. - Test2 - elhamkhani - TriplyDB

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

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

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The Physiology, Pathology, and Pharmacology of Voltage-Gated Calcium Channels and Their Future Therapeutic Potential Zebrafish Cacna1fa is required for cone photoreceptor function and synaptic ribbon formation Trio-based exome sequencing arrests de novo mutations in early-onset high myopia Cav1.4 L-Type Calcium Channels Contribute to Calpain Activation in Degenerating Photoreceptors of rd1 Mice.TMEM16A is associated with voltage-gated calcium channels in mouse retina and its function is disrupted upon mutation of the auxiliary α2δ4 subunit.Gain-of-function nature of Cav1.4 L-type calcium channels alters firing properties of mouse retinal ganglion cells.LRIT3 Differentially Affects Connectivity and Synaptic Transmission of Cones to ON- and OFF-Bipolar Cells.Loss of HCN1 enhances disease progression in mouse models of CNG channel-linked retinitis pigmentosa and achromatopsia.Retinoschisin Facilitates the Function of L-Type Voltage-Gated Calcium Channels.Cone dystrophy and ectopic synaptogenesis in a Cacna1f loss of function model of congenital stationary night blindness (CSNB2A).Altered synaptic transmission at olfactory and vomeronasal nerve terminals in mice lacking N-type calcium channel Cav2.2.Channeling Vision: CaV1.4-A Critical Link in Retinal Signal Transmission.

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

http://www.wikidata.org/entity/Q37593044

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article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 26 October 2013

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vedecký článok

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vetenskaplig artikel

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vědecký článek

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Mosaic synaptopathy and functi ...... e and human carriers of CSNB2.

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Mosaic synaptopathy and functi ...... e and human carriers of CSNB2.

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Mosaic synaptopathy and functi ...... e and human carriers of CSNB2.

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Mosaic synaptopathy and functi ...... e and human carriers of CSNB2.

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Mosaic synaptopathy and functi ...... e and human carriers of CSNB2.

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Mosaic synaptopathy and functi ...... e and human carriers of CSNB2.

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Human Molecular Genetics

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Mosaic synaptopathy and functi ...... ce and human carriers of CSNB2

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Birgit Lorenz

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Christian A Wahl-Schott

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Christian Hamel

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Christoph Friedburg

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Isabelle Meunier

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Lior Shaltiel

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Marie-Elise Lancelot

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Marina Garcia Garrido

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Markus N Preising

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Martin Biel

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P2860

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

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

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

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

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

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

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

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

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

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

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1538-1550

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scholarly article

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10.1093/HMG/DDT541

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23

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Christina Zeitz

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2013-10-26T00:00:00Z

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24163243

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