research 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.
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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.
research Oral Presentations: Findings from Dermatological Studies
The document concludes that an experimental drug may help wound healing in Epidermolysis Bullosa, links Hydroa vacciniforme to EBV, discusses diagnosing hair loss disorders, finds many children with eczema have allergies, reviews the safety of a skin medication in children, notes side effects of a Duchenne's treatment, and identifies a marker for pediatric mastocytosis.
research Stabilizing Mutations of KLHL24 Ubiquitin Ligase Cause Loss of Keratin 14 and Human Skin Fragility
Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
research Paraoxonase 1 (PON1) L55M and Q192R Polymorphisms, Lipid Profiles, and Psoriasis
The PON1 192R gene variant is linked to a higher risk of psoriasis and heart disease in Western Mexico.
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