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research Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis
KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
research Serine palmitoyltransferase and peripheral neuropathy: studies on neuropathy-causing mutations and their biochemical hallmarks
Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.
research The protoporphyrin IX dimethyl ester incorporated soy lecithin for photoinactivation of fluconazole-resistant Candida albicans
research Delta‐6 desaturase knockout mouse illustrates previously undocumented pathology
Lack of certain fatty acids causes skin, immune, and fertility issues in mice.
research 3,3-Diphenylpentane skeleton as a steroid skeleton substitute: Novel inhibitors of human 5α-reductase 1
A new compound effectively inhibits human 5α-reductase 1.
research Letters to the Editors: Re: FUE and donor planning
The document's conclusion cannot be provided because the content is not available to parse.
research Loose anagen hair syndrome in two patients with epidermolysis bullosa simplex, Dowling-Meara type
Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
research 5α Reductase Deficiency—a Rare Cause of Ambiguous Genitalia and Gender Dysphoria
5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.
research Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene
Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
research 474 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 Crystal Structure of 3-Oxo-4-Aza-5-Alpha-Androstone-17 β-Tert-Butyl Carboxamide with an O···H–(C, N) Acceptor Four-Center Hydrogen Bond
The research shows that hydrogen bonds greatly affect the crystal structure of a Finasteride derivative.
research P0401 Finasteride 1 mg: Silent impacts on male fertility despite preserved hormonal balance
research Computer physics communications instructions to authors (third revision)
research Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
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 Dual-functional hybrid quaternized chitosan/Mg/alginate dressing with antibacterial and angiogenic potential for diabetic wound healing
The dressing effectively fights infection and promotes healing in diabetic wounds.