152 citations
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” This study presents evidence that keratitis–ichthyosis–deafness syndrome is caused by a mutation in the connexin 26 gene, expanding the gene's known involvement in various disorders.
5 citations
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January 2020 in “in Vivo” This study found that administering testosterone to pregnant rats altered connexin 26 and connexin 43 expression in the uterus, which could disrupt embryo implantation and cause early pregnancy loss.
3 citations
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February 2017 in “Archives of Medical Science” This study found that finasteride treatment in male rats may lead to changes in connexin 43 expression in the testes of their offspring, potentially affecting spermatogenesis.
34 citations
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September 2010 in “Clinical and Experimental Dermatology” This study identified a new heterozygous mutation in the connexin 26 gene (c.263C>T; p.Ala88Val) in a premature neonate with KID syndrome, who later died from complications.
18 citations
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July 2006 in “British Journal of Dermatology” This study reported no Cx30 expression in normal interfollicular human epidermis and minimal expression in some skin structures, with faint detection in porokeratosis of Mibelli patient skin.
11 citations
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November 2011 in “The Journal of Dermatology” This case report highlights the association of three CX26 gene mutations, particularly the D50N mutation, with keratitis–ichthyosis–deafness syndrome and its potential role in scalp squamous cell carcinoma and breast cancer development in a patient.
4 citations
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September 2004 in “Experimental Dermatology” This review discusses the role of connexin mutations in various human disorders, highlighting their impact on ectodermal epithelial phenotypes like hearing loss and skin abnormalities, but it presents no new clinical findings.
January 2022 in “International journal of dermatology and venereology” This case study reports a 36-year-old man with KID syndrome caused by an N14Y GJB2 mutation, expanding the mutation spectrum of this condition in the Chinese population.
17 citations
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June 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that mice with a Cx43 mutation exhibited slower and asynchronous hair regrowth with severe cuticle weathering, mimicking aspects of hair phenotype in some ODDD patients.
71 citations
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January 2012 in “PloS one” This study observed that after hair cell loss in the mouse cochlea, supporting cells were replaced by migrating non-specialised cells, with genetic background affecting the rate of tissue re-organization.
22 citations
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April 2023 in “The Journal of Cell Biology” In this study, researchers found that coordinated intercellular Ca2+ signaling among basal stem cells in mice is crucial for cell cycle progression and tissue-wide communication during epidermal regeneration.
8 citations
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May 2024 in “PLoS Biology” This study on feather pattern formation in chicken skin found that inhibiting gap junctional intercellular communication can lead to the emergence of new feather buds in specific spatial patterns, suggesting that GJIC may facilitate Turing-type periodic patterning by propagating inhibitory signals over long distances.
4 citations
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October 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that epidermal stem cells in live mice exhibit coordinated intercellular Ca 2+ signaling governed by G2 cycling stem cells and mediated by Connexin43, essential for tissue-wide communication during regeneration.
This study found that mutant Cx43 impairs fibroblast function during wound healing and reduces hair follicle cell proliferation, likely contributing to hair growth defects in ODDD patients.
73 citations
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January 2002 in “Journal of Investigative Dermatology” In this study, researchers found that connexin 43-negative cells in the basal layer of the epidermis could serve as markers for keratinocyte stem cells, aiding their identification and separation.
April 2019 in “Journal of Investigative Dermatology” This study found that bioelectric and biochemical signaling mechanisms coordinate collective cell movement during chicken feather bud morphogenesis, suggesting a potential new angle for research in skin development and wound healing.
April 2017 in “Journal of Investigative Dermatology” This case study reports that a heterozygous missense GJA1 mutation, p.Gly138Ser, in a 2-year-old boy with oculodentodigital syndrome primarily resulted in syndactyly, fifth finger hypoplasia, and hypotrichosis, without neurological or craniofacial abnormalities.
May 2003 in “Journal of Investigative Dermatology” This article reviews the progress in hair biology research, including advancements in understanding androgen action, hair follicle stem cells, and autoimmune mechanisms in alopecia, and reports no new clinical results.
29 citations
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June 2010 in “The Journal of Dermatology” This report documents a novel alanine to valine substitution in the GJB2 gene in a Japanese girl with severe keratitis–ichthyosis–deafness syndrome, suggesting a potential link to her severe recurrent infections and immunodeficiency.
January 2026 in “Animal Genetics” This study investigated a Labrador Retriever with paw pad hyperkeratosis and identified a unique de novo heterozygous missense variant in the GJB6 gene, suggesting its potential role in the condition, analogous to Clouston syndrome in humans, although differences between species may provide further insights.
October 2023 in “Case reports in dermatological medicine” In this case report, a 45-year-old Jordanian woman was diagnosed with Clouston syndrome, an autosomal-dominant disorder characterized by alopecia and nail dystrophy due to a mutation in the GJB6 gene, though she lacked the typical palmoplantar keratoderma.
April 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that gap junctional communication influences feather patterning by modulating Turing-type activator-inhibitor systems in chicken skin, suggesting its role in propagating inhibitory signals crucial for pattern formation.
August 2020 in “International Journal of Research in Dermatology” This report describes a 23-year-old male with Clouston’s syndrome, characterized by nail abnormalities, palmoplantar skin thickening, anodontia, and androgenic alopecia, highlighting the need for supportive management due to the lack of a definitive treatment.
April 2017 in “Journal of Investigative Dermatology” This study suggests that mutation-targeted siRNA therapy could potentially treat keratitis-ichthyosis-deafness syndrome by selectively reducing harmful GJB2 mutant gene expression in patient-derived keratinocytes.
May 2015 in “Journal of Investigative Dermatology” Melanoma risk tools need improvement, a gene mutation causes a hair disorder that might be treated by managing cell stress, a potential therapy for a skin-ear disorder involves blocking cell channels, skin wrinkling may indicate lung aging regardless of smoking, and oxidative stress might contribute to common baldness.
November 2003 in “Journal of Investigative Dermatology” This article includes summaries of multiple studies on dermatological topics like Imiquimod's effects on tumors, vitamin C absorption enhancement, and ferritin levels in hair loss, but reports no new results itself.
32 citations
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November 2016 in “Journal of Dental Research” This review explores the role of Panx3 in skeletal formation and discusses its potential in developing new therapies for conditions like osteoarthritis, without presenting new clinical findings.
4 citations
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January 2019 in “Indian Dermatology Online Journal” This report discusses two cases of porokeratotic eccrine ostial and dermal duct nevus and porokeratotic eccrine and hair follicle nevus, suggesting they may represent a single clinical entity, but reports no therapeutic outcomes.
April 2015 in “Experimental Dermatology” Melanoma risk tools need improvement, certain gene mutations cause skin diseases and could be treated by targeting those mutations, skin wrinkling may relate to lung aging due to genetic factors, and oxidative stress affects hair loss but can be reduced in low oxygen.
13 citations
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January 2021 in “Scientific Reports” This study found that Pannexin 3 plays a crucial role in skin development by regulating the transcription factor Epiprofin, affecting keratinocyte differentiation and hair follicle regeneration in mice.