research Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Mutations in the LSS gene cause a rare type of hereditary hair loss.
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270-300 / 1000+ results research Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
Genetic variants in specific genes cause central centrifugal cicatricial alopecia.
research Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason
Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
research INNOVATIVE THERAPIES IN REGENERATIVE MEDICINE AND TRANSPLANTATION
DEC cells show promise as a safe and effective treatment for Duchenne muscular dystrophy.
research Genetically Altered Expression of Spermidine/Spermine N1-Acetyltransferase Affects Fat Metabolism in Mice via Acetyl-CoA
Altering SSAT affects fat metabolism and body fat in mice.
research Homology Modeling of 5-alpha-Reductase 2 Using Available Experimental Data
Accurate protein modeling can help develop new treatments for prostate cancer and other diseases.
research Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research Expression and Activity Assay of Human Steroid 5 Alpha-Reductase Type II in CHO Cells
Finasteride effectively inhibits the enzyme steroid 5 alpha-reductase II.
research Vitamin D-dependent rickets type II. Defective induction of 25-hydroxyvitamin D3-24-hydroxylase by 1,25-dihydroxyvitamin D3 in cultured skin fibroblasts.
Measuring 24-OHase induction helps identify defects in vitamin D processing and predict treatment response.
research Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria
Enzyme replacement therapy improved multiple symptoms of homocystinuria in mice.
research Study on Histamine Related Enzyme Activities during Murine Hair Cycle.
Histamine and its enzyme may help start hair regrowth.
research Mutations in Sterol O-Acyltransferase 1 (Soat1) Result in Hair Interior Defects in AKR/J Mice
A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
research RSPO1, a potent inducer of pancreatic β cell neogenesis
RSPO1 could help create new diabetes treatments by increasing pancreatic β cells.
research Cutaneous manifestations of methylmalonic and propionic acidaemia: a description based on 38 cases
Some children with methylmalonic and propionic acidaemias have skin problems related to their condition and diet.
research The heme-responsive PrrH sRNA regulatesPseudomonas aeruginosapyochelin gene expression
PrrH sRNA controls pyochelin gene expression in Pseudomonas aeruginosa based on heme levels.
research PRMT5 inhibition has a potent anti-tumor activity against adenoid cystic carcinoma of salivary glands
PRMT5 inhibitors effectively fight adenoid cystic carcinoma in salivary glands.
research Sulphation catalysed by the human cytosolic sulphotransferases - chemical defence or molecular terrorism?
Human enzymes can detoxify harmful substances but might also increase their cancer risk.
research Glucose-Activated Nanoreactor Initiating Cascade Reaction to Remodel Immune Microenvironment for Promoting Diabetic Wound Healing
MCP@G improves diabetic wound healing by reducing stress and promoting tissue repair.
research Structure and hair follicle-specific expression of genes encoding the rat high sulfur protein B2 family
The B2 genes are crucial for hair growth in rats.
research Copper Modulates Mitochondrial Oxidative Phosphorylation to Enhance Dermal Papilla Cells Proliferation in Rex Rabbits
Copper boosts cell growth in rabbit hair follicles.
research Cardiac morphologic alterations in acute minoxidil cardiotoxicity in miniature swine
research Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
A girl had rickets due to a gene mutation affecting vitamin D response.
research Sulfur Containing Tyrosine Analogs Can Cause Selective Melanocytotoxicity Involving Tyrosinase-Mediated Apoptosis
research Multifaceted roles of superoxide dismutases (SODs) in cellular homeostasis and cancer progression: Redox regulation and therapeutic implications
Superoxide dismutases help balance cell stress and may aid cancer treatment.
research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
research Kyoto Rhino Rats Derived by ENU Mutagenesis Undergo Congenital Hair Loss and Exhibit Focal Glomerulosclerosis
A new rat strain with a specific gene mutation causes hair loss and kidney issues.
research 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population.
A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
research The protoporphyrin IX dimethyl ester incorporated soy lecithin for photoinactivation of fluconazole-resistant Candida albicans
research The Hairless Phenotype of the Hirosaki Hairless Rat Is Due to the Deletion of an 80-kb Genomic DNA Containing Five Basic Keratin Genes
Hirosaki hairless rats lack hair due to missing DNA with key keratin genes.
research Nagashima-Type Palmoplantar Keratosis: A Common Asian Type Caused by SERPINB7 Protease Inhibitor Deficiency
Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.