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Modeling gap junction beta 2 gene-related deafness with human iPSC

Human molecular genetics, 2021-07, Vol.30 (15), p.1429-1442

2021

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Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26

Human molecular genetics, 2017-03, Vol.26 (6), p.1070-1077

2017

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Endothelin-1 promotes human germinal vesicle-stage oocyte maturation by downregulating connexin-26 expression in cumulus cells

Molecular human reproduction, 2018-01, Vol.24 (1), p.27-36

2018

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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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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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Perinatal Gjb2 gene transfer rescues hearing in a mouse model of hereditary deafness

Human molecular genetics, 2015-07, Vol.24 (13), p.3651-3661

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 32 and luteolin play protective roles in non-alcoholic steatohepatitis development and its related hepatocarcinogenesis in rats

Carcinogenesis (New York), 2015-12, Vol.36 (12), p.1539

2015

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Reduced connexin 43 in eutopic endometrium and cultured endometrial stromal cells from subjects with endometriosis

Molecular human reproduction, 2014-03, Vol.20 (3), p.260-270

2014

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Cadmium versus Lanthanum Effects on Spontaneous Electrical Activity and Expression of Connexin Isoforms Cx26, Cx36, and Cx45 in the Human Fetal Cortex

Cerebral cortex (New York, N.Y. 1991), 2020-03, Vol.30 (3), p.1244-1259

2020

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Control of the proliferation of activated CD4+ T cells by connexins

Journal of leukocyte biology, 2010-07, Vol.88 (1), p.79-86

2010

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The p.Cys169Tyr variant of connexin 26 is not a polymorphism

Human molecular genetics, 2015-05, Vol.24 (9), p.2641-2648

2015

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Mechanisms of Spontaneous Electrical Activity in the Developing Cerebral Cortex-Mouse Subplate Zone

Cerebral cortex (New York, N.Y. 1991), 2019-07, Vol.29 (8), p.3363-3379

2019

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Broad Gap Junction Blocker Carbenoxolone Disrupts Uterine Preparation for Embryo Implantation in Mice

Biology of reproduction, 2013-08, Vol.89 (2), p.31

2013

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Pincer nail deformity as the main manifestation of Clouston syndrome

British journal of dermatology (1951), 2015-08, Vol.173 (2), p.581-583

2015

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Investigation of 20 non-HLA (human leucocyte antigen) psoriasis susceptibility loci in Chinese patients with psoriatic arthritis and psoriasis vulgaris

British journal of dermatology (1951), 2013-05, Vol.168 (5), p.1060-1065

2013

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Unusual cutaneous manifestations and congenital hearing loss in a patient with GJB2 (F142L) mutation

Clinical and experimental dermatology, 2021-10, Vol.46 (7), p.1338-1340

2021

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The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice

Human molecular genetics, 2010-12, Vol.19 (24), p.4759-4773

2010

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In vitro and in vivo suppression of GJB2 expression by RNA interference

Human molecular genetics, 2005-06, Vol.14 (12), p.1641-1650

2005

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Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30

Human molecular genetics, 2003-04, Vol.12 (8), p.805-812

2003

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The connexin26 S17F mouse mutant represents a model for the human hereditary keratitis― ichthyosis―deafness syndrome

Human molecular genetics, 2011, Vol.20 (1), p.28-39

2011

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Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness

Human molecular genetics, 2003-05, Vol.12 (9), p.995-1004

2003

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Decreased Oocyte-Granulosa Cell Gap Junction Communication and Connexin Expression in a Type 1 Diabetic Mouse Model

Molecular endocrinology (Baltimore, Md.), 2008-12, Vol.22 (12), p.2643-2654

2008

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Etiology of Severe Sensorineural Hearing Loss in Children: Independent Impact of Congenital Cytomegalovirus Infection and GJB2 Mutations

The Journal of infectious diseases, 2007-03, Vol.195 (6), p.782-788

2007

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Pathogenetic role of the deafness-related M34T mutation of Cx26

Human molecular genetics, 2006-09, Vol.15 (17), p.2569-2587

2006

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Modeling gap junction beta 2 gene-related deafness with human iPSC

Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26

Endothelin-1 promotes human germinal vesicle-stage oocyte maturation by downregulating connexin-26 expression in cumulus cells

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

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

Perinatal Gjb2 gene transfer rescues hearing in a mouse model of hereditary deafness

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

Connexin 32 and luteolin play protective roles in non-alcoholic steatohepatitis development and its related hepatocarcinogenesis in rats

Reduced connexin 43 in eutopic endometrium and cultured endometrial stromal cells from subjects with endometriosis

Cadmium versus Lanthanum Effects on Spontaneous Electrical Activity and Expression of Connexin Isoforms Cx26, Cx36, and Cx45 in the Human Fetal Cortex

Control of the proliferation of activated CD4+ T cells by connexins

The p.Cys169Tyr variant of connexin 26 is not a polymorphism

Mechanisms of Spontaneous Electrical Activity in the Developing Cerebral Cortex-Mouse Subplate Zone

Broad Gap Junction Blocker Carbenoxolone Disrupts Uterine Preparation for Embryo Implantation in Mice

Pincer nail deformity as the main manifestation of Clouston syndrome

Investigation of 20 non-HLA (human leucocyte antigen) psoriasis susceptibility loci in Chinese patients with psoriatic arthritis and psoriasis vulgaris

Unusual cutaneous manifestations and congenital hearing loss in a patient with GJB2 (F142L) mutation

The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice

In vitro and in vivo suppression of GJB2 expression by RNA interference

Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30

The connexin26 S17F mouse mutant represents a model for the human hereditary keratitis― ichthyosis―deafness syndrome

Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness

Decreased Oocyte-Granulosa Cell Gap Junction Communication and Connexin Expression in a Type 1 Diabetic Mouse Model

Etiology of Severe Sensorineural Hearing Loss in Children: Independent Impact of Congenital Cytomegalovirus Infection and GJB2 Mutations

Pathogenetic role of the deafness-related M34T mutation of Cx26

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