Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population (Q36680215)

15 August 2017

Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population (English)

1 reference

15 August 2017

1 reference

1 reference

Inna A Belyantseva

1 reference

15 August 2017

Thomas B Friedman

1 reference

15 August 2017

Saima Riazuddin

1 reference

15 August 2017

Sheikh Riazuddin

1 reference

15 August 2017

Shaheen N Khan

1 reference

15 August 2017

S Amer Riazuddin

1 reference

15 August 2017

Zil-e-Huma Bashir

1 reference

15 August 2017

Noreen Latief

1 reference

PMC publication ID

3596117

15 August 2017

Farheena Iqbal

series ordinal

1 reference

15 August 2017

13 December 2012

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Journal of Human Genetics

15 August 2017

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15 August 2017

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15 August 2017

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15 August 2017

102-108

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Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

Mutations in CLDN14 are associated with different hearing thresholds

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

MutationTaster evaluates disease-causing potential of sequence alterations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

A method and server for predicting damaging missense mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

Physiology and function of the tight junction

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

Identification of MarvelD3 as a tight junction-associated transmembrane protein of the occludin family

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

A claudin-9-based ion permeability barrier is essential for hearing.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

Tight junction-based epithelial microenvironment and cell proliferation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani 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=3596117

Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

Tricellulin is a tight-junction protein necessary for hearing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

Distinct subdomain organization and molecular composition of a tight junction with adherens junction features

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

Molecular and physiological bases of the K+ circulation in the mammalian inner ear.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

Supporting sensory transduction: cochlear fluid homeostasis and the endocochlear potential

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive 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=3596117

Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

Modification of human hearing loss by plasma-membrane calcium pump PMCA2

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

Deafness in Claudin 11-null mice reveals the critical contribution of basal cell tight junctions to stria vascularis 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=3596117

Expression patterns of claudins, tight junction adhesion molecules, in the inner ear

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

Mutations of MYO6 are associated with recessive deafness, DFNB37

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of 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=3596117

Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell 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=3596117

Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

Claudin multigene family encoding four-transmembrane domain protein components of tight junction strands

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

Claudin-1 and -2: novel integral membrane proteins localizing at tight junctions with no sequence similarity to occludin

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

A simple and efficient non-organic procedure for the isolation of genomic DNA from blood

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

Compartmentalization established by claudin-11-based tight junctions in stria vascularis is required for hearing through generation of endocochlear potential.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

Clinical manifestations of DFNB29 deafness

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

The fine structure of freeze-fractured intercellular junctions in the guinea pig inner ear

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

Tight junctions: molecular structure meets function.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596117

Kinetics of Adhesion Mediated by Extracellular Loops of Claudin-2 as Revealed by Single-Molecule Force Spectroscopy

5 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FJHG.2012.143

Single-Molecular-Level Study of Claudin-1-Mediated Adhesion

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FJHG.2012.143

Dominant modifier DFNM1 suppresses recessive deafness DFNB26

21 January 2018

1 reference

12 December 2020

Intercellular junctions in the guinea pig stria vascularis as shown by freeze-etching (author's transl)

1 reference

12 December 2020

Intercellular junctions in the reticular lamina of the organ of Corti

1 reference

12 December 2020

Overcoming barriers in the study of tight junction functions: from occludin to claudin

1 reference

12 December 2020

Identifiers

DOI

10.1038/JHG.2012.143

1 reference

15 August 2017

1 reference

PMC publication ID

3596117

15 August 2017

PubMed publication ID

23235333

1 reference

PMC publication ID

3596117