Pathogenetic role of the deafness-related M34T mutation of Cx26. (Q33691804)

28 July 2017

Pathogenetic role of the deafness-related M34T mutation of Cx26. (English)

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28 July 2017

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2

Martina Beltramello

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28 July 2017

Elona Cama

9

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Sergio Pantano

object named as

Sergio Pantano

10

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Fabio Mammano

object named as

Fabio Mammano

13

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Massimo Carella

object named as

Massimo Carella

4

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author name string

Massimiliano Bicego

1

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28 July 2017

Salvatore Melchionda

3

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28 July 2017

Valeria Piazza

5

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28 July 2017

Leopoldo Zelante

6

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28 July 2017

Feliksas F Bukauskas

7

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28 July 2017

Edoardo Arslan

8

1 reference

28 July 2017

Roberto Bruzzone

11

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28 July 2017

Paola D'Andrea

12

1 reference

28 July 2017

18 July 2006

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28 July 2017

Human Molecular Genetics

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28 July 2017

15

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28 July 2017

2569-2587

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28 July 2017

17

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Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

GJB2 mutations and degree of hearing loss: a multicenter study

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

Insights on HIV-1 Tat:P/CAF bromodomain molecular recognition from in vivo experiments and molecular dynamics simulations.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

Connexins in hearing loss: a comprehensive overview

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

Structural organization of gap junction channels

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

Hearing the messenger: Ins(1,4,5)P3 and deafness.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

Connexins and cell signaling in development and disease

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

Sensorineural hearing loss in Jewish children born in Jerusalem

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

Molecular epidemiology of DFNB1 deafness in France

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

Connexin disorders of the ear, skin, and lens.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

Chemical gating of gap junction channels; roles of calcium, pH and calmodulin

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

A genotype-phenotype correlation for GJB2 (connexin 26) deafness

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

Single-channel SCAM identifies pore-lining residues in the first extracellular loop and first transmembrane domains of Cx46 hemichannels

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

Permeability and gating properties of human connexins 26 and 30 expressed in HeLa cells

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

Sound-Induced Cochlear Ischemia/Hypoxia as a Mechanism of Hearing Loss

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

Functional analysis of connexin-26 mutants associated with hereditary recessive deafness

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

Structural and functional diversity of connexin genes in the mouse and human genome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

Deafness and renal tubular acidosis in mice lacking the K-Cl co-transporter Kcc4.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

Molecular genetics of hearing loss

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

Neuronal KCNQ potassium channels: physiology and role in disease.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

T-Coffee: A novel method for fast and accurate multiple sequence alignment

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

Gap junction systems in the mammalian cochlea

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

Three-dimensional structure of a recombinant gap junction membrane channel

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

Expression of the gap-junction connexins 26 and 30 in the rat cochlea

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

Connexin-26 mutations in sporadic and inherited sensorineural deafness

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

Fluorescent indicators for Ca2+ based on green fluorescent proteins and calmodulin

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

Identification of a pore lining segment in gap junction hemichannels.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

Calcium waves in retinal glial cells

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

Connections with connexins: the molecular basis of direct intercellular signaling

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

Mechanisms and function of intercellular calcium signaling

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

Localized calcium spikes and propagating calcium waves

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

Specific permeability and selective formation of gap junction channels in connexin-transfected HeLa cells

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

Cell-to-cell spread of calcium signals mediated by ATP receptors in mast cells

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

Glial fibrillary acidic protein expression and promoter activity in the inner ear of developing and adult mice.

14 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL184

Connexin mutations in deafness.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL184

Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL184

Hearing loss: frequency and functional studies of the most common connexin26 alleles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL184

Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL184

Roles of Met-34, Cys-64, and Arg-75 in the assembly of human connexin 26. Implication for key amino acid residues for channel formation and function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL184

The inner ear contains heteromeric channels composed of cx26 and cx30 and deafness-related mutations in cx26 have a dominant negative effect on cx30.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL184

Biophysical properties of mouse connexin30 gap junction channels studied in transfected human HeLa cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL184

Molecular cloning and functional expression of mouse connexin-30,a gap junction gene highly expressed in adult brain and skin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL184

Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL184

Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL184

Calcium waves between astrocytes from Cx43 knockout mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL184

A Cα Model for the Transmembrane α Helices of Gap Junction Intercellular Channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL184

High frequency hearing loss correlated with mutations in the GJB2 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL184

The M34T allele variant of connexin 26.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL184

Connexin 26 studies in patients with sensorineural hearing loss.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL184

Audiological features of GJB2 (connexin 26) deafness.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL184

Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL184

A mechanism for sensing noise damage in the inner ear.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL184

Intercellular calcium signaling and gap junctional communication in astrocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL184

A Second Generation Force Field for the Simulation of Proteins, Nucleic Acids, and Organic Molecules

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL184

Human, Drosophila, and C.elegans TDP43: nucleic acid binding properties and splicing regulatory function

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL184

Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant Connexin26M34T.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829448

Connexin 26 Gene Mutations in Congenitally Deaf Children

30 October 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL184

Theory and applications of the generalized Born solvation model in macromolecular simulations

21 January 2018

1 reference

12 December 2020

Intercellular propagation of calcium waves mediated by inositol trisphosphate

1 reference

12 December 2020

Gap junctions: fates worse than death?

1 reference

12 December 2020

Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDL184

1 reference

28 July 2017

1 reference

28 July 2017

1 reference