research Connexin Mutations in Human Disease
Connexin mutations can cause various diseases like hearing loss and skin disorders.
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5 / 214 resultsresearch Connexin 26 (GJB2) Mutations in Keratitis–Ichthyosis–Deafness Syndrome Presenting with Squamous Cell Carcinoma
Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
research A Novel Mutation in the Connexin 26 Gene (GJB2) in a Child with Clinical and Histological Features of Keratitis-Ichthyosis-Deafness (KID) Syndrome
A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
research Mutation-Specific siRNA Knockdown of GJB2: Potential Gene Therapy for Keratitis-Ichthyosis-Deafness Syndrome
Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
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