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Polydisperse molecular architecture of connexin 26/30 heteromeric hemichannels revealed by atomic force microscopy imaging

The Journal of biological chemistry, 2020-12, Vol.295 (49), p.16499-16509

2020

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Structure of native lens connexin 46/50 intercellular channels by cryo-EM

Nature (London), 2018-12, Vol.564 (7736), p.372-377

2018

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Cellular mechanisms of connexin-based inherited diseases

Trends in cell biology, 2022-01, Vol.32 (1), p.58-69

2022

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The connexin26 human mutation N14K disrupts cytosolic intersubunit interactions and promotes channel opening

The Journal of general physiology, 2019-03, Vol.151 (3), p.328-341

2019

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Targeting NANOG and FAK via Cx26-derived Cell-penetrating Peptides in Triple-negative Breast Cancer

Molecular cancer therapeutics, 2024-01, Vol.23 (1), p.56-67

2024

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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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Structures of wild-type and a constitutively closed mutant of connexin26 shed light on channel regulation by CO 2

eLife, 2024-06, Vol.13

2024

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Tricellular adherens junctions provide a cell surface delivery platform for connexin 26/30 oligomers in the cochlea

Hearing research, 2021-02, Vol.400, p.108137-108137, Article 108137

2021

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Heart and liver connexin expression related to the first stage of aging: A study on naturally aged animals

Acta histochemica, 2020-12, Vol.122 (8), p.151651-151651, Article 151651

2020

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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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Identification of homozygous mutations for hearing loss

Gene, 2021-04, Vol.778, p.145464-145464, Article 145464

2021

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Syndromic deafness mutations at Asn 14 differentially alter the open stability of Cx26 hemichannels

The Journal of general physiology, 2016-07, Vol.148 (1), p.25-42

2016

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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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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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Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco

Molecular biology reports, 2022-05, Vol.49 (5), p.3949-3954

2022

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Precise control of ion channel and gap junction expression is required for patterning of the regenerating axolotl limb

The International journal of developmental biology, 2020, Vol.64 (10-11-12), p.485-494

2020

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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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Computational Studies of Molecular Permeation through Connexin26 Channels

Biophysical journal, 2016-02, Vol.110 (3), p.584-599

2016

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The p.Gly130Val mutation in the GJB2 gene: A familiar case of autosomal dominant non-syndromic hearing loss

International journal of pediatric otorhinolaryngology, 2019-12, Vol.127, p.109653-109653, Article 109653

2019

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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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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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Frequency of GJB2 mutations, GJB6‐D13S1830 and GJB6‐D13S1854 deletions among patients with non‐syndromic hearing loss from the central region of Iran

Molecular genetics & genomic medicine, 2019-07, Vol.7 (7), p.e00780-n/a

2019

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Polydisperse molecular architecture of connexin 26/30 heteromeric hemichannels revealed by atomic force microscopy imaging

Structure of native lens connexin 46/50 intercellular channels by cryo-EM

Cellular mechanisms of connexin-based inherited diseases

The connexin26 human mutation N14K disrupts cytosolic intersubunit interactions and promotes channel opening

Targeting NANOG and FAK via Cx26-derived Cell-penetrating Peptides in Triple-negative Breast Cancer

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

Structures of wild-type and a constitutively closed mutant of connexin26 shed light on channel regulation by CO 2

Tricellular adherens junctions provide a cell surface delivery platform for connexin 26/30 oligomers in the cochlea

Heart and liver connexin expression related to the first stage of aging: A study on naturally aged animals

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

Identification of homozygous mutations for hearing loss

Syndromic deafness mutations at Asn 14 differentially alter the open stability of Cx26 hemichannels

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

Genomic and transcriptomic characterization of desmoplastic small round cell tumors

Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco

Precise control of ion channel and gap junction expression is required for patterning of the regenerating axolotl limb

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

Computational Studies of Molecular Permeation through Connexin26 Channels

The p.Gly130Val mutation in the GJB2 gene: A familiar case of autosomal dominant non-syndromic 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

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

Frequency of GJB2 mutations, GJB6‐D13S1830 and GJB6‐D13S1854 deletions among patients with non‐syndromic hearing loss from the central region of Iran

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