research Mutations In AEC Syndrome Skin Reveal A Role For p63 In Basement Membrane Adhesion, Skin Barrier Integrity And Hair Follicle Biology
Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
Search
forLearn
0 / 0 results — no results
Research
5 / 239 resultsresearch A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders
The study presents a novel in vitro model using NTERT keratinocytes with AEC-related TP63 mutations to investigate Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC), a disorder caused by mutations in the TP63 gene. This model overcomes limitations of iPSC-derived keratinocytes by allowing large-scale production of disease-relevant material. N-AEC keratinocytes exhibit defects similar to those in AEC patient skin, such as downregulation of cell adhesion proteins and pathological features like intra-epidermal cysts. This model is a valuable tool for understanding skin fragility in AEC and other genetic skin disorders, aiding in the development of new therapeutic strategies.
research Characterization of an Autoimmune Condition Associated with AEC Syndrome
Controlling Tslp can improve health in AEC syndrome patients.
research Scarring Folliculitis in the Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
The patient with EEC syndrome had scarring alopecia due to deep folliculitis, possibly linked to abnormal hair structure.
research Case 22
The dog had sebaceous adenitis, treated with ciclosporin, leading to some hair regrowth.
Community Join
2 / 2 resultscommunity Maybe oral min was not that good of an idea for someone this naturally hairy
User discusses increased body hair after using oral minoxidil for hair loss treatment. Others share experiences and debate benefits of being hairy versus bald.
community Huge Group Buy is Now Live with New and Existing Treatments
A group buy for hair loss treatments including Harmine 19a, TM5614, Abiraterone Acetate, and others. A compound, BMS-202, that can potentially reverse gray hair is also mentioned.