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Research
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research A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
Community Join
5 / 1000+ resultscommunity How much do we know about PTD-DBM?
PTD-DBM is a Korean-developed treatment for hair loss, with limited information available and some users testing it personally. A user purchased PTD-DBM for $115 and plans to test it on their temples, but its effectiveness and authenticity remain uncertain.
community PTD-DBM Update: Q&A With Dr. Kang-Yell Choi
PTD-DBM is being explored for hair regrowth by targeting CXXC5, with clinical trials expected after pre-clinical studies. Users express anticipation and skepticism about its effectiveness.
community Oral PTD-DBM available online, worth giving a shot?
Oral PTD-DBM was discussed as a potential hair loss treatment, but it was deemed ineffective in humans despite promising results in mice. The conversation concluded that trying it without VPA might be unwise.
community New company created by Dr. Kang-Yell Choi to commercialize PTD-DBM therapy
PTD-DBM therapy for hair loss is being developed by Dr. Kang-Yell Choi, with human testing planned in South Korea. Some clinics in the U.S. offer PTD-DBM/valproic acid therapy, but it hasn't completed trials yet.
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.