A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment (Q36358411)

13 August 2017

A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment (English)

1 reference

13 August 2017

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17

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13 August 2017

Isabelle Schrauwen

1

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Amy Lee

Amy Lee

16

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Guy Van Camp

Guy Van Camp

Morteza Hashemzadeh Chaleshtori

18

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Morteza Hashemzadeh Chaleshtori

14

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Hannie Kremer

10

Hannie Kremer

1 reference

13 August 2017

9

Jaap Oostrik

1 reference

13 August 2017

Sarah Helfmann

2

1 reference

13 August 2017

Akira Inagaki

3

1 reference

13 August 2017

Friederike Predoehl

4

1 reference

13 August 2017

Mohammad Amin Tabatabaiefar

5

1 reference

13 August 2017

Maria Magdalena Picher

6

1 reference

13 August 2017

Manou Sommen

7

1 reference

13 August 2017

Celia Zazo Seco

8

1 reference

13 August 2017

Annelies Dheedene

11

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13 August 2017

Charlotte Claes

12

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13 August 2017

Erik Fransen

13

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13 August 2017

Paul Coucke

15

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13 August 2017

language of work or name

English

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publication date

13 September 2012

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American Journal of Human Genetics

13 August 2017

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13 August 2017

91

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13 August 2017

4

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13 August 2017

636-645

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Ca2+-dependent modulation of voltage-gated Ca2+ channels

13 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484643

The crystal structure of the C₂A domain of otoferlin reveals an unconventional top loop region

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484643

Structural Basis for the Differential Effects of CaBP1 and Calmodulin on CaV1.2 Calcium-Dependent Inactivation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484643

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484643

The diverse roles of ribbon synapses in sensory neurotransmission

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484643

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484643

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484643

Switching of Ca2+-dependent inactivation of Ca(v)1.3 channels by calcium binding proteins of auditory hair cells.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484643

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484643

Mechanisms underlying the temporal precision of sound coding at the inner hair cell ribbon synapse

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484643

Newborn hearing screening--a silent revolution

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484643

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484643

Structural analysis of Mg2+ and Ca2+ binding to CaBP1, a neuron-specific regulator of calcium channels

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484643

Multiple roles of calmodulin and other Ca(2+)-binding proteins in the functional regulation of TRP channels

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484643

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484643

Regulation of InsP3 receptor activity by neuronal Ca2+-binding proteins

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484643

CaV1.3 channels are essential for development and presynaptic activity of cochlear inner hair cells.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484643

Identification of a family of calcium sensors as protein ligands of inositol trisphosphate receptor Ca(2+) release channels

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484643

Calcium-binding proteins: intracellular sensors from the calmodulin superfamily

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484643

Role of the C terminus of the alpha 1C (CaV1.2) subunit in membrane targeting of cardiac L-type calcium channels

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484643

Five members of a novel Ca(2+)-binding protein (CABP) subfamily with similarity to calmodulin

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484643

Primer3 on the WWW for general users and for biologist programmers

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484643

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484643

A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484643

Improved Splice Site Detection in Genie

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484643

Prediction of human mRNA donor and acceptor sites from the DNA sequence

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484643

DFNB93, a novel locus for autosomal recessive moderate-to-severe hearing impairment.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484643

A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484643

Ca2+-binding proteins tune Ca2+-feedback to Cav1.3 channels in mouse auditory hair cells

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484643

Ca2+/calmodulin regulates trafficking of Ca(V)1.2 Ca2+ channels in cultured hippocampal neurons

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484643

Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484643

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

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484643

Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484643

10.1016/J.AJHG.2012.08.018

21 October 2018

Identifiers

DOI

1 reference

13 August 2017

1 reference

13 August 2017

PubMed publication ID

22981119

1 reference