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.