Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish (Q29144889)

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English	Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish	scientific article

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scholarly article

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Europe PubMed Central

25 June 2017

Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish (English)

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Europe PubMed Central

25 June 2017

Adenylate cyclase 1

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GOA release 2020-03-11

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based on heuristic

inferred from title

13

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3

object named as

Arnaud P Giese

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Europe PubMed Central

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object named as

Kwanghyuk Lee

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University of Washington Center for Mendelian Genomics

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object named as

University of Washington Center for Mendelian Genomics

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Europe PubMed Central

25 June 2017

Suzanne M. Leal

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object named as

Suzanne M Leal

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Europe PubMed Central

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Deborah A Nickerson

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object named as

Deborah A Nickerson

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Europe PubMed Central

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Saima Riazuddin

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object named as

Saima Riazuddin

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Europe PubMed Central

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Michael J Bamshad

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object named as

Michael Bamshad

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Europe PubMed Central

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Raja Hussain Ali

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object named as

Raja Hussain Ali

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author name string

Muhammad Ansar

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Muhammad Amin-Ud-Din

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Europe PubMed Central

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Kira Rehn

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Europe PubMed Central

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Xin Wang

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Abdul Aziz

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Europe PubMed Central

25 June 2017

Ilene Chiu

9

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Wasim Ahmad

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Regie Lyn P Santos-Cortez

1

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Joshua D Smith

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Zubair M Ahmed

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25 June 2017

publication date

29 January 2014

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25 June 2017

Human Molecular Genetics

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23

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12

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3289-3298

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Europe PubMed Central

25 June 2017

Cyclic nucleotide-gated channel α-3 (CNGA3) interacts with stereocilia tip-link cadherin 23 + exon 68 or alternatively with myosin VIIa, two proteins required for hair cell mechanotransduction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030782

6 April 2017

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

1 reference

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6 April 2017

HCN1 and HCN2 proteins are expressed in cochlear hair cells: HCN1 can form a ternary complex with protocadherin 15 CD3 and F-actin-binding filamin A or can interact with HCN2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030782

6 April 2017

Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

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6 April 2017

A method and server for predicting damaging missense mutations

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Fast and accurate short read alignment with Burrows-Wheeler transform

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Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030782

6 April 2017

Genetic reduction of chronic muscle pain in mice lacking calcium/calmodulin-stimulated adenylyl cyclases

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6 April 2017

The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling

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6 April 2017

Regulation of the voltage-gated potassium channel KCNQ4 in the auditory pathway

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6 April 2017

An actin molecular treadmill and myosins maintain stereocilia functional architecture and self-renewal

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6 April 2017

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

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6 April 2017

Predicting deleterious amino acid substitutions

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6 April 2017

Molecular basis for P-site inhibition of adenylyl cyclase

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6 April 2017

Molecular cloning and functional characterization of a new modulatory cyclic nucleotide-gated channel subunit from mouse retina

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6 April 2017

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness

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6 April 2017

Crystal structure of the catalytic domains of adenylyl cyclase in a complex with Gsalpha.GTPgammaS

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6 April 2017

MutationTaster evaluates disease-causing potential of sequence alterations

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7 April 2017

Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics

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7 April 2017

Predicting the functional effect of amino acid substitutions and indels

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3 June 2018

Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models

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3 June 2018

Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.

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3 June 2018

Predicting the functional impact of protein mutations: application to cancer genomics

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3 June 2018

The calmodulin-stimulated adenylate cyclase ADCY8 sets the sensitivity of zebrafish retinal axons to midline repellents and is required for normal midline crossing

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Identification of deleterious mutations within three human genomes

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3 June 2018

Distinct roles of adenylyl cyclases 1 and 8 in opiate dependence: behavioral, electrophysiological, and molecular studies

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3 June 2018

Two interaction sites on mammalian adenylyl cyclase type I and II: modulation by calmodulin and G(betagamma).

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3 June 2018

The genetics of hearing and balance in zebrafish

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3 June 2018

DFNB44, a novel autosomal recessive non-syndromic hearing impairment locus, maps to chromosome 7p14.1-q11.22.

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3 June 2018

Espin cross-links cause the elongation of microvillus-type parallel actin bundles in vivo.

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3 June 2018

Hyperpolarization-activated, cyclic AMP-gated, HCN1-like cation channel: the primary, full-length HCN isoform expressed in a saccular hair-cell layer

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3 June 2018

FM1-43 dye behaves as a permeant blocker of the hair-cell mechanotransducer channel.

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3 June 2018

Expression of adenylyl cyclase type I in cochlear inner hair cells

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3 June 2018

Frequency-specific auditory brainstem responses in adults with sensorineural hearing loss

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3 June 2018

Altered sensory processing in the somatosensory cortex of the mouse mutant barrelless

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3 June 2018

Altered behavior and long-term potentiation in type I adenylyl cyclase mutant mice

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3 June 2018

A cyclic-AMP-gated conductance in cochlear hair cells

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3 June 2018

The cytoskeleton and the cellular traffic of the progesterone receptor

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3 June 2018

Calcium action on the membrane currents possessing the properties of mechano-electric transducer currents in inner hair cells of the Guinea-pig cochlea.

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21 January 2018

Proliferation in the auditory receptor epithelium mediated by a cyclic AMP-dependent signaling pathway.

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21 January 2018

Molecular mechanism of cAMP modulation of HCN pacemaker channels.

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21 January 2018

Electroretinographic oscillatory potentials are reduced in adenylyl cyclase type I deficient mice

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21 January 2018

Exact genetic linkage computations for general pedigrees.

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Allegro version 2

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Adenylate cyclase 1 as a key actor in the refinement of retinal projection maps.

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Immunohistochemical localization of adenylyl cyclase isoforms in the lateral wall of the rat cochlea

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12 December 2020

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The effects of calcium buffering and cyclic AMP on mechano-electrical transduction in turtle auditory hair cells

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https://pubmed.ncbi.nlm.nih.gov/24482543

12 December 2020

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Expression pattern of adenylyl cyclase isoforms in the inner ear of the rat by RT-PCR and immunochemical localization of calcineurin in the organ of Corti

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https://pubmed.ncbi.nlm.nih.gov/24482543

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Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic

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Identifiers

10.1093/HMG/DDU042

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Europe PubMed Central

25 June 2017

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1 reference

Europe PubMed Central

25 June 2017

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