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Keratitis‐ichthyosis‐deafness syndrome with lethal p.Ala88Val variant and severe hypercalcemia

American journal of medical genetics. Part A, 2023-01, Vol.191 (1), p.253-258

2023

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Genomic and transcriptomic characterization of desmoplastic small round cell tumors

Genes chromosomes & cancer, 2021-09, Vol.60 (9), p.595-603

2021

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Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss

American journal of medical genetics. Part A, 2018-04, Vol.176 (4), p.945-950

2018

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Parental mosaic cutaneous‐gonadal GJB2 mutation: From epidermal nevus to inherited ichthyosis‐deafness syndrome

Journal of dermatology, 2022-03, Vol.49 (3), p.379-382

2022

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Keratitis‐ichthyosis‐deafness syndrome: Phenotypic heterogeneity and treatment perspective of patients with p.Asp50Asn GJB2 mutation

Dermatologic therapy, 2020-11, Vol.33 (6), p.e14493-n/a

2020

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GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran

Journal of clinical laboratory analysis, 2021-11, Vol.35 (11), p.e24024-n/a

2021

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Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients

British journal of dermatology (1951), 2007-05, Vol.156 (5), p.1015-1019

2007

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High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss

American journal of medical genetics. Part A, 2005-09, Vol.137A (3), p.255-258

2005

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Recent insights into gap junction biogenesis in the cochlea

Developmental dynamics, 2023-02, Vol.252 (2), p.239-246

2023

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Prevalence of Deafness‐Associated Connexin‐26 (GJB2) and Connexin‐30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily

Annals of human genetics, 2015-09, Vol.79 (5), p.341-349

2015

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Opposing modulation of Cx26 gap junctions and hemichannels by CO 2

The Journal of physiology, 2021-01, Vol.599 (1), p.103-118

2021

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GJB2-associated hearing loss: Systematic review of worldwide prevalence, genotype, and auditory phenotype

The Laryngoscope, 2014-02, Vol.124 (2), p.E34-E53

2014

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Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome

British journal of dermatology (1951), 2003-04, Vol.148 (4), p.649-653

2003

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Oleamide derivatives suppress the spontaneous metastasis by inhibiting connexin 26

International journal of cancer, 2007-07, Vol.121 (1), p.47-54

2007

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Overview of skin diseases linked to connexin gene mutations

International journal of dermatology, 2014-02, Vol.53 (2), p.192-205

2014

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

Journal of neurochemistry, 2003-02, Vol.84 (4), p.735-742

2003

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Development of the stria vascularis and potassium regulation in the human fetal cochlea: Insights into hereditary sensorineural hearing loss

Developmental neurobiology (Hoboken, N.J.), 2015-11, Vol.75 (11), p.1219-1240

2015

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Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome

British journal of dermatology (1951), 2021-06, Vol.184 (6), p.1190-1192

2021

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Connexin 26 and 30 Genes Mutations in Patients with Chronic Rhinosinusitis

The Laryngoscope, 2008-02, Vol.118 (2), p.310-313

2008

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Connexin hemichannel‐mediated CO2‐dependent release of ATP in the medulla oblongata contributes to central respiratory chemosensitivity

The Journal of physiology, 2010-10, Vol.588 (20), p.3901-3920

2010

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Connexin 26 and 43 play a role in regulating proinflammatory events in the epidermis

Journal of cellular physiology, 2019-09, Vol.234 (9), p.15594-15606

2019

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Supporting sensory transduction: cochlear fluid homeostasis and the endocochlear potential

The Journal of physiology, 2006-10, Vol.576 (1), p.11-21

Wangemann, Philine

2006

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KID syndrome in a Malaysian child with identification of novel heterozygous missense mutation GJB2 c.581T>A(p. 194Phe>Tyr)

International journal of dermatology, 2021-07, Vol.60 (7), p.e288-e290

2021

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A heterozygous mutation in GJB2 (Cx26F142L) associated with deafness and recurrent skin rashes results in connexin assembly deficiencies

Experimental dermatology, 2020-10, Vol.29 (10), p.970-979

2020

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Variants in Genes Associated with Hearing Loss in Children: Prevalence in a Large Canadian Cohort

The Laryngoscope, 2024-08, Vol.134 (8), p.3832-3838

2024

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Keratitis‐ichthyosis‐deafness syndrome with lethal p.Ala88Val variant and severe hypercalcemia

Genomic and transcriptomic characterization of desmoplastic small round cell tumors

Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss

Parental mosaic cutaneous‐gonadal GJB2 mutation: From epidermal nevus to inherited ichthyosis‐deafness syndrome

Keratitis‐ichthyosis‐deafness syndrome: Phenotypic heterogeneity and treatment perspective of patients with p.Asp50Asn GJB2 mutation

GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran

Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients

High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss

Recent insights into gap junction biogenesis in the cochlea

Prevalence of Deafness‐Associated Connexin‐26 (GJB2) and Connexin‐30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily

Opposing modulation of Cx26 gap junctions and hemichannels by CO 2

GJB2-associated hearing loss: Systematic review of worldwide prevalence, genotype, and auditory phenotype

Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome

Oleamide derivatives suppress the spontaneous metastasis by inhibiting connexin 26

Overview of skin diseases linked to connexin gene mutations

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

Development of the stria vascularis and potassium regulation in the human fetal cochlea: Insights into hereditary sensorineural hearing loss

Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome

Connexin 26 and 30 Genes Mutations in Patients with Chronic Rhinosinusitis

Connexin hemichannel‐mediated CO2‐dependent release of ATP in the medulla oblongata contributes to central respiratory chemosensitivity

Connexin 26 and 43 play a role in regulating proinflammatory events in the epidermis

Supporting sensory transduction: cochlear fluid homeostasis and the endocochlear potential

KID syndrome in a Malaysian child with identification of novel heterozygous missense mutation GJB2 c.581T>A(p. 194Phe>Tyr)

A heterozygous mutation in GJB2 (Cx26F142L) associated with deafness and recurrent skin rashes results in connexin assembly deficiencies

Variants in Genes Associated with Hearing Loss in Children: Prevalence in a Large Canadian Cohort

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