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5 / 1000+ resultsresearch A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
This case report describes a 6-year-old girl with a severe phenotype of mandibuloacral dysplasia type A (MADA) linked to a rare homozygous LMNA missense mutation (c.1579C>T). The patient exhibited subtotal alopecia, distinct craniofacial features, generalized lipodystrophy, joint stiffness, and significant bone and skin abnormalities. Radiological findings included severe bone dysplasia and osteopenia. MADA, an autosomal recessive disorder, typically results from the p.R527H mutation in the LMNA gene, but this case involves the rare p.R527C mutation, marking the sixth family reported with this mutation.
research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment
Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
research Syndromes of Severe Insulin Resistance (SSIRs)
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
research Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling
Folliculin helps regulate energy and nutrient sensing, impacting Birt–Hogg–Dubé syndrome.
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5 / 1000+ resultscommunity P-1075: a BETTER version of Minoxidil
P-1075 is a more potent hair growth agent than Minoxidil, but it poses significant heart risks, making it unsafe for use. Despite promising results in macaques, concerns about its cardiotoxicity in rats have halted its development.
community Topical finasteride (P-3074) inhibits scalp DHT up to 70%
Topical finasteride (P-3074) can inhibit scalp DHT by up to 70%, with some users experiencing systemic absorption similar to oral use. Users discuss varying application frequencies and concentrations, with some noticing side effects when overused.
community How does Pedro P have a full head of hear. I'm losing mine and will be bald within 1 year. I'm not even 30yo.
Pedro Pascal's full head of hair is likely due to genetics, finasteride, and possibly hair transplants. Many actors use finasteride to maintain their hair.
community Still losing on fin 5x & dut 2x p/w (1.5 years in) - next steps advice
The user has been using finasteride and minoxidil for 5 years with initial success but is now experiencing hair thinning despite increasing dutasteride usage. They are considering adjusting dutasteride frequency and possibly adding treatments like eucapil, minoxidil, and GHK-Cu peptides.
community On the topic of HMI-115 and prolactin: has anyone tried adding Vitamin B6 (P-5-P) to their topical solutions?
The conversation discusses the potential benefits of adding Vitamin B6 (P-5-P) to topical hair loss treatments like RU58841, finasteride, or minoxidil. The user suggests that Vitamin B6 might enhance these treatments by naturally lowering scalp prolactin.