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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 Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree
A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research 464 Phenotypic heterogeneity of epidermolysis bullosa associated with the recurrent pathogenic variant p.(Arg2000Trp) in plectin
The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
Community Join
5 / 1000+ resultscommunity Proposed new pathogenesis model for androgenetic alopecia (AGA)
The conversation discusses a new model for understanding androgenetic alopecia (AGA), linking it to dietary and lifestyle factors similar to PCOS, and highlighting the role of DHT, vascular damage, and inflammation. Treatments mentioned include Minoxidil, finasteride, and RU58841.
community Anagenic is trying to compound Gt20029
The conversation discusses concerns that Anagenic's version of GT20029 might not be as effective or safe as Kintor's, with comparisons to issues faced by pyrilutamide. The chemical structure of the drug has been published.
community Pelage have presented only phase 2a. The rest of phase 2 for PP405 will be presented at a later medical meeting
PP405's phase 2a trial results were presented, focusing on safety and pharmacokinetics, with a future meeting planned to share the full dataset. The trial includes a randomized controlled portion and an open-label extension, with no indication of phase 2B completion.
community Trial for TDM-105795 update from research office
The trial for TDM-105795 has been completed, and it was in phase 2A. The discussion seeks input on the next phases, 2B or 3, based on safety and efficacy.
community Pp405 phase 2a clinical results
PP405 shows initial promise for treating androgenetic alopecia, with safety confirmed in early trials, but skepticism remains due to limited data. Further trials are needed to determine its true efficacy and potential market impact.