From frog integument to human skin: dermatological perspectives from frog skin biology
IS Haslam, EW Roubos, ML Mangoni… - Biological …, 2014 - Wiley Online Library
For over a century, frogs have been studied across various scientific fields, including
physiology, embryology, neuroscience,(neuro) endocrinology, ecology, genetics …
physiology, embryology, neuroscience,(neuro) endocrinology, ecology, genetics …
[HTML][HTML] Connexins in epidermal homeostasis and skin disease
CA Scott, D Tattersall, EA O'Toole, DP Kelsell - Biochimica et Biophysica …, 2012 - Elsevier
The expression of multiple connexin (Cx) types in the epidermis, their differential expression
during wound closure and the association of skin pathology with specific Cx gene mutations …
during wound closure and the association of skin pathology with specific Cx gene mutations …
[HTML][HTML] Connexin26 mutations causing palmoplantar keratoderma and deafness interact with connexin43, modifying gap junction and hemichannel properties
Mutations in GJB2 (connexin [Cx] 26) cause either deafness or deafness associated with
skin diseases. That different disorders can be caused by distinct mutations within the same …
skin diseases. That different disorders can be caused by distinct mutations within the same …
Connexinopathies: a structural and functional glimpse
Mutations in human connexin (Cx) genes have been related to diseases, which we termed
connexinopathies. Such hereditary disorders include nonsyndromic or syndromic deafness …
connexinopathies. Such hereditary disorders include nonsyndromic or syndromic deafness …
[HTML][HTML] Connexins: sensors of epidermal integrity that are therapeutic targets
Gap junction proteins (connexins) are differentially expressed throughout the multiple layers
of the epidermis. A variety of skin conditions arise with aberrant connexin expression or …
of the epidermis. A variety of skin conditions arise with aberrant connexin expression or …
[HTML][HTML] Porokeratotic eccrine nevus may be caused by somatic connexin26 mutations
JA Easton, S Donnelly, MAF Kamps, PM Steijlen… - Journal of investigative …, 2012 - Elsevier
Porokeratotic eccrine ostial and dermal duct nevus, or porokeratotic eccrine nevus (PEN), is
a hyperkeratotic epidermal nevus. Several cases of widespread involvement have been …
a hyperkeratotic epidermal nevus. Several cases of widespread involvement have been …
[HTML][HTML] Connexins and the epithelial tissue barrier: a focus on connexin 26
L Garcia-Vega, EM O'Shaughnessy, A Albuloushi… - Biology, 2021 - mdpi.com
Epithelial tissue responds rapidly to environmental triggers and is constantly renewed. This
tissue is also highly accessible for therapeutic targeting. This review highlights the role of …
tissue is also highly accessible for therapeutic targeting. This review highlights the role of …
[HTML][HTML] From hyperactive connexin26 hemichannels to impairments in epidermal calcium gradient and permeability barrier in the keratitis-ichthyosis-deafness …
The keratitis-ichthyosis-deafness (KID) syndrome is characterized by corneal, skin, and
hearing abnormalities. KID has been linked to heterozygous dominant missense mutations …
hearing abnormalities. KID has been linked to heterozygous dominant missense mutations …
Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains
OL Posukh, EA Maslova, VY Danilchenko, MV Zytsar… - Biomolecules, 2023 - mdpi.com
One of the most common forms of genetic deafness has been predominantly associated with
pathogenic variants in the GJB2 gene, encoding transmembrane protein connexin 26 …
pathogenic variants in the GJB2 gene, encoding transmembrane protein connexin 26 …
GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.
S Iossa, E Marciano, A Franzé - Current genomics, 2011 - ingentaconnect.com
The GJB2 gene is located on chromosome 13q12 and it encodes the connexin 26, a
transmembrane protein involved in cell-cell attachment of almost all tissues. GJB2 mutations …
transmembrane protein involved in cell-cell attachment of almost all tissues. GJB2 mutations …