Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness (Q24311948)

regulation of heart rate by cardiac conduction

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

15

0 references

Gudrun Nürnberg

6

0 references

Andreas Lieb

Andreas Lieb

Martina J Sinnegger-Brauns

3

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Martina J Sinnegger-Brauns

9

0 references

Matteo E. Mangoni

Matteo E Mangoni

12

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Shahid M Baig

1

Shahid M Baig

0 references

author name string

Alexandra Koschak

2

0 references

Mathias Gebhart

4

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Claudia Dafinger

5

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Amjad Ali

7

0 references

Ilyas Ahmad

8

0 references

Niels Brandt

10

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Jutta Engel

11

0 references

Muhammad Farooq

13

0 references

Habib U Khan

14

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Jörg Striessnig

16

0 references

Hanno J Bolz

An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6

17

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language of work or name

English

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publication date

January 2011

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published in

Nature Neuroscience

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volume

14

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page(s)

77-84

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issue

1

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cites work

1 reference

Cloning of the alpha 1 subunit of a voltage-dependent calcium channel expressed in pancreatic beta cells

20 April 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

20 April 2017

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Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations

20 April 2017

1 reference

Functional role of L-type Cav1.3 Ca2+ channels in cardiac pacemaker activity

20 April 2017

1 reference

A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome

20 April 2017

1 reference

IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome

20 April 2017

1 reference

'Rejuvenation' protects neurons in mouse models of Parkinson's disease

20 April 2017

1 reference

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

20 April 2017

1 reference

Crystal structure of a mammalian voltage-dependent Shaker family K+ channel

20 April 2017

1 reference

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

20 April 2017

1 reference

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

20 April 2017

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Allegro, a new computer program for multipoint linkage analysis

20 April 2017

1 reference

Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?

20 April 2017

1 reference

The changing face of Usher syndrome: clinical implications

21 January 2018

1 reference

Congenital deafness and sinoatrial node dysfunction in mice lacking class D L-type Ca2+ channels

21 January 2018

1 reference

Quantification of homozygosity in consanguineous individuals with autosomal recessive disease

21 January 2018

1 reference

Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.

21 January 2018

1 reference

Exploring the function and pharmacotherapeutic potential of voltage-gated Ca2+ channels with gene knockout models

21 January 2018

1 reference

Channelopathies in Cav1.1, Cav1.3, and Cav1.4 voltage-gated L-type Ca2+ channels

21 January 2018

1 reference

FPL 64176 modification of Ca(V)1.2 L-type calcium channels: dissociation of effects on ionic current and gating current

21 January 2018

1 reference

G-protein modulation of N-type calcium channel gating current in human embryonic kidney cells (HEK 293).

21 January 2018

1 reference

Enhancement of ionic current and charge movement by coexpression of calcium channel beta 1A subunit with alpha 1C subunit in a human embryonic kidney cell line.

21 January 2018

1 reference

alpha 1D (Cav1.3) subunits can form l-type Ca2+ channels activating at negative voltages

21 January 2018

1 reference

Molecular basis of the long-QT syndrome associated with deafness.

21 January 2018

1 reference

CaV1.3 L-type Ca2+ channels modulate depression-like behaviour in mice independent of deaf phenotype.

21 January 2018

1 reference

Robust pacemaking in substantia nigra dopaminergic neurons

21 January 2018

1 reference

The L-Type voltage-gated calcium channel Cav1.3 mediates consolidation, but not extinction, of contextually conditioned fear in mice

21 January 2018

1 reference

Modulation of voltage- and Ca2+-dependent gating of CaV1.3 L-type calcium channels by alternative splicing of a C-terminal regulatory domain.

21 January 2018

1 reference

G-protein-coupled receptor modulation of striatal CaV1.3 L-type Ca2+ channels is dependent on a Shank-binding domain.

21 January 2018

1 reference

Genesis and regulation of the heart automaticity.

21 January 2018

1 reference

A coupled SYSTEM of intracellular Ca2+ clocks and surface membrane voltage clocks controls the timekeeping mechanism of the heart's pacemaker.

21 January 2018

1 reference

The role of the GX9GX3G motif in the gating of high voltage-activated Ca2+ channels.

21 January 2018

1 reference

Structural model of the Ca V 1.2 pore

21 January 2018

1 reference

ALOHOMORA: a tool for linkage analysis using 10K SNP array data

21 January 2018

1 reference

C-terminal modulator controls Ca2+-dependent gating of Ca(v)1.4 L-type Ca2+ channels

21 January 2018

1 reference

Thyroid hormone deficiency affects postnatal spiking activity and expression of Ca2+ and K+ channels in rodent inner hair cells.

21 January 2018

1 reference

Persistence of Ca(v)1.3 Ca2+ channels in mature outer hair cells supports outer hair cell afferent signaling.

21 January 2018

1 reference

Few CaV1.3 channels regulate the exocytosis of a synaptic vesicle at the hair cell ribbon synapse.

21 January 2018

1 reference

GRR: graphical representation of relationship errors

21 January 2018

1 reference

12 December 2020

Isoform-specific regulation of mood behavior and pancreatic beta cell and cardiovascular function by L-type Ca 2+ channels

1 reference

12 December 2020

L-type calcium channels in insulin-secreting cells: biochemical characterization and phosphorylation in RINm5F cells.

1 reference

12 December 2020

Null mutation of alpha1D Ca2+ channel gene results in deafness but no vestibular defect in mice

1 reference

12 December 2020

HaploPainter: a tool for drawing pedigrees with complex haplotypes

1 reference

12 December 2020

The Jervell and Lange-Nielsen syndrome

1 reference

12 December 2020

Influence of L-type Ca channel alpha 2/delta-subunit on ionic and gating current in transiently transfected HEK 293 cells

1 reference

12 December 2020

Identifiers

DOI

10.1038/NN.2694

1 reference

Consolidated OpenCitations Corpus – April 2017

Dimensions Publication ID

1046142

1038087510

0 references

Fatcat ID

release_pnbhykgljneepbtrij43eiagpm

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/pnbhykgljneepbtrij43eiagpm

24 November 2022

mapped directly with Wikidata item

1046142

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference