research Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
Search
for
Sort by
Research
300-330 / 1000+ results
research Clinical and Laboratory Characteristics of Individuals Aged ≤17 Years With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
research Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin
Lack of cystatin M/E causes thin hair and dry skin.
research High-performance liquid chromatographic determination of the enantiomers of the benzoquinolinone LY 191704, a human type 1 5α-reductase inhibitor, in plasma
Researchers developed a method to measure different forms of a drug that could help treat prostate issues and hair loss, and found how these forms behave in animals.
research In vitro selective inhibition of human UDP-glucuronosyltransferase (UGT) 1A4 by finasteride, and prediction of in vivo drug–drug interactions
Finasteride affects UGT1A4 enzyme, but not enough to cause issues when combined with other drugs.
research Cyproterone Acetate: A Genotoxic Carcinogen?
Cyproterone acetate may cause liver cancer at high doses, but is considered safe at recommended doses for approved uses.
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 Allelic frequencies for the seventeen Y-STR loci observed in Iraqi male patients with prostate cancer
Certain genetic markers on the Y-chromosome may influence prostate cancer risk in Iraqi males.
research Signal integrator function of CXXC5 in Cancer
CXXC5 can both suppress and promote cancer, making it a complex target for treatment.
research Overexpression of aldo-keto reductase 1C3 (AKR1C3) in LNCaP cells diverts androgen metabolism towards testosterone resulting in resistance to the 5α-reductase inhibitor finasteride
Too much AKR1C3 enzyme causes resistance to finasteride by increasing testosterone.
research Biotransformation of tirilazad in human: 4. effect of finasteride on tirilazad clearance and reduced metabolite formation.
research Polymorphisms of the genes ABCG2, SLC22A12 and XDH and their relation with hyperuricemia and hypercholesterolemia in Mexican young adults
The ABCG2 gene variant increases the risk of high uric acid and cholesterol, especially in overweight or obese young Mexican males.
research LY191704: a selective, nonsteroidal inhibitor of human steroid 5 alpha-reductase type 1.
LY191704 is a compound that effectively blocks a specific enzyme involved in hormone conversion and could help treat enlarged prostate and hair loss.
research Tyrosinase inhibition due to interaction of homocyst(e)ine with copper: the mechanism for reversible hypopigmentation in homocystinuria due to cystathionine beta-synthase deficiency.
Lowering homocyst(e)ine levels can reverse skin and hair lightening by restoring enzyme activity needed for pigmentation.
research Nonclassic Congenital Adrenal Hyperplasia: An Overview
Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.
research Lipin 1 Gene Polymorphisms in Polycystic Ovary Syndrome
Certain gene variations might help protect against insulin resistance and glucose intolerance in people with Polycystic Ovary Syndrome.
research First-in-human phase 1 study of ETC-159 an oral PORCN inhbitor in patients with advanced solid tumours.
ETC-159 was safe up to 30 mg, but no tumor shrinkage was seen.
research Hydroxylation of dehydroepiandrosterone in human scalp hair folhcles
The enzyme system in hair follicles is similar to the liver's and is affected by certain inhibitors.
research Determination of candesartan in human plasma by HPLC-MS-MS
A reliable method was developed to measure candesartan in human plasma.
research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
research Localisation and regulation of cholesterol transporters in the human hair follicle: mapping changes across the hair cycle
Cholesterol transport in hair follicles decreases from growth to regression phase.
research Determination of finasteride by HPLC-MS and study its pharmacokinetics
A new method accurately measures finasteride levels in blood and shows how the body processes it.
research Metabolism of finasteride in rat hepatic microsomes: Age and sex differences and effects of P450 inducers
Finasteride metabolism varies by age, sex, and P450 inducers, with males processing it faster.
research The Role of Cytochrome P-450 in Dermatology
Cytochrome P-450 enzymes in the skin help break down various substances and could be targeted to treat skin conditions.
research Identification of Metabolites for the Novel 5α‐Reductase Inhibitor Epristeride In Vitro and Its Potential Impact on Doping Testing
Epristeride's metabolism involves key metabolites and proteins, affecting its use in doping tests.
research Citalopram and finasteride with the lot number FI0510058-A have been voluntarily recalled by Greenstone, after a labelling error
research 1367 Inhibition of the mitochondrial pyruvate carrier promotes ATF4–dependent stress responsive metabolic rewiring and cell cycle arrest in the human hair follicle
Blocking a key energy pathway in human hair follicles can trigger stress responses that stop cell growth.
research 1640: Polymorphisms in the 5α-Reductase Type 2 Gene and Response to Finasteride Treatment in BPH
Genetic variations may affect how well finasteride works for BPH patients.
research Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis
Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
research Identification of Potential Cytochrome p450c 17 Alpha Inhibitors for the Treatment of PCOS via Scaffold Hopping and Fragment-Based De-Novo Drug Design
Potential new drugs for treating PCOS were identified.