Search
for
Sort by
Research
990-1000 / 1000+ resultsresearch Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
research Clinical Case Notes. Lipoid proteinosis: a rare disorder with pathognomonic lid lesions
A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
research Trichothiodystrophy
research Clinical symptoms and sex steroid measurements in domestic ferrets (Mustela putorius furo) with hyperadrenocorticism
Neutered ferrets often develop hyperadrenocorticism, with symptoms like hair loss and lethargy, and androstenedione is a key indicator for diagnosis.
research Inhibition of Polyamine Synthesis Alters Hair Follicle Function and Fiber Composition
Polyamines, especially spermidine, are essential for hair growth.
research Hairless and the polyamine putrescine form a negative regulatory loop in the epidermis
Hairless protein and putrescine regulate each other, affecting hair growth and skin balance.
research ACP Broadsheet 131: March 1992. Hirsute women: should they be investigated?
Most women with excess hair growth need only a clinical evaluation and minimal tests unless they show signs of virilism.
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
research FLCN regulates transferrin receptor 1 transport and iron homeostasis
FLCN helps control iron levels in cells.