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Research
5 / 21 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 Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson–Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies
Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
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 Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
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5 / 1000+ resultscommunity The theory that explains everything. The malloclusion theory has been proven.
Brian Dye's theory links skeletal malocclusion type II to hair loss, suggesting it's a blood flow issue. Treatments mentioned include minoxidil, finasteride, and anti-inflammatory drugs like benaxoprofen.
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 Interesting new publication suggesting that MPB should be assessed as a early warning sign for type-2 diabetes.
Male pattern baldness (MPB) may be an early warning sign for type 2 diabetes due to its association with insulin resistance. Treatments discussed include testosterone therapy and finasteride, which affects hormone levels related to hair loss and insulin sensitivity.
community AH-001 another topical AR degrader beside GT20029, completed Phase I
AH-001 is a new topical treatment designed to degrade androgen receptors, targeting the root cause of androgenetic alopecia without the side effects of oral treatments like finasteride. It has shown a strong safety profile and good local tolerability in early trials.
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.