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5 / 1000+ resultsresearch Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
This study reports on a Pakistani family with three individuals affected by IFAP syndrome type I, linked to the recurrent MBTPS2 splice-site variant c.970+5G>A. This variant has also been identified in Chinese and Argentinian families. Haplotype analyses indicate that this is a recurrent mutational hotspot rather than a result of a founder effect. The study also notes variability in phenotypic severity among the families, suggesting the presence of additional modifying factors.
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 Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research Deciphering the pathogenesis of central centrifugal cicatricial alopecia
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
research 284 Deciphering the pathogenesis of central centrifugal cicatricial alopecia
CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.
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5 / 1000+ resultscommunity What do you think about this study?
The conversation discusses skepticism about new hair loss treatments, with many users expressing doubt about the effectiveness and availability of future solutions. Current treatments like minoxidil, finasteride, and hair transplants are mentioned as reliable options.
community A small tip for diffuse thinners
A user with diffuse thinning shares a tip for improving hair appearance by using a shea butter and coconut oil serum from Trader Joe's at night. They are on finasteride and considering adding minoxidil for better results.
community Is it possible to transplant mice skin into human body?
Transplanting mice skin to humans is not feasible due to immune rejection, but some suggest genetic modification or immune suppression could make it possible. Xenograft hair transplants are discouraged.
community Just wanted to brag - shoutout Costco pharmacy
The conversation is about obtaining affordable hair loss treatments, specifically dutasteride and minoxidil, through Costco and other pharmacies without needing a membership. The user shares their experience of getting prescriptions from Dr. B’s and Ro, highlighting the cost-effectiveness of their regimen.
community How to combat Hair Loss for dummies (imo)
Use finasteride, minoxidil, and dutasteride for hair loss, with micro-needling as an additional option. Consider a hair transplant if unsatisfied, and avoid unproven treatments like RU58841.