research Novel missense mutation in the EDA gene in a family affected by oligodontia
Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
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810-840 / 1000+ results research A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13
Monilethrix is linked to a gene cluster on chromosome 12.
research Butyrophilin-like 2 (BTNL2) to the Rescue: controlling autoaggressive dermal gamma delta (GD) T lymphocytes in human hair follicles (HFs) 3747
BTNL2 helps protect hair follicles from immune attacks, which could aid in treating alopecia areata.
research Crystal structure of steroid reductase SRD5A reveals conserved steroid reduction mechanism
The structure of SRD5A reveals how it reduces steroids, aiding drug design for related health conditions.
research The role of phosphoglycerate dehydrogenase in cell proliferation and tumor progression
PHGDH promotes cancer growth by aiding cell proliferation and tumor progression.
research Author response: Deletion of the MAD2L1 spindle assembly checkpoint gene is tolerated in mouse models of acute T-cell lymphoma and hepatocellular carcinoma
Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.
research Polymorphisms of the genes ABCG2, SLC22A12 and XDH and their relation with hyperuricemia and hypercholesterolemia in Mexican young adults
A specific gene variation increases the risk of high uric acid and cholesterol in young Mexican males.
research 1497 Type 2-mediated oxidative reprogramming promotes the transition of macrophages into repair mode and is required for wound healing
Type 2 inflammation helps wound healing by switching immune cells to repair mode.
research Role of neurosteroid allopregnanolone on age-related differences in exercise-induced hypoalgesia in rats
Mild exercise reduces pain in older rats through a brain chemical, while intense exercise reduces pain in all rats through a different pain-blocking process.
research Melatonin Alleviates the Oxygen–Glucose Deprivation/Reperfusion-Induced Pyroptosis of HEI-OC1 Cells and Cochlear Hair Cells via MT-1,2/Nrf2 (NFE2L2)/ROS/NLRP3 Pathway
Melatonin may protect inner ear cells from damage by reducing cell death and oxidative stress, potentially treating sudden hearing loss.
research Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
research オルニチン・トランスカルバミラーゼ(OTC)欠損(spf・ash)マウスへのOTC遺伝子導入
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
research Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
research Gene detection in a family with monilethrix and observation of the treatment effect with 5% topical minoxidil
5% topical minoxidil improves hair density and quality in monilethrix patients.
research Identification of BST2 as a biomarker for alopecia areata in both mice and humans
BST2 is a key marker for hair loss disease alopecia areata.
research HPA axis stress reactivity and hair cortisol concentrations in recently detoxified alcoholics and healthy controls with and without childhood maltreatment
Alcohol dependence affects stress hormone levels more than childhood maltreatment.
research More about X‐linked testicular feminization of the mouse as a noninducible (is) mutation of a regulatory locus: 5α‐androstan‐3α‐17ß‐diol as the true inducer of kidney alcohol dehydrogenase and ß‐glucuronidase
A specific metabolite, not a receptor protein, triggers the production of certain kidney enzymes, but this process is disrupted in mice with a mutation causing testicular feminization.
research Structural basis for the catalysis and inhibition of human steroid 5α‐reductase 2
The research gives new understanding on how human steroid 5α-reductases work and how drugs like finasteride inhibit them, which could help in creating new drugs.
research Pharmacological BACE1 and BACE2 inhibition induces hair depigmentation by inhibiting PMEL17 processing in mice
Blocking BACE1 and BACE2 enzymes causes hair color loss in mice.
research Heart Failure Due to Cardiac Transthyretin Amyloidosis
A 90-year-old man was diagnosed with heart failure due to wild-type transthyretin cardiac amyloidosis.
research Next-generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands
A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
research 14. 膠原病患者における心理状態の統計学的観察(第45回 日本心身医学会東北地方会 演題抄録)
Suppressing ODC activity reduces tumor growth in hair follicles.
research 1328 HIF1A stabilisation in the human hair follicle promotes glycolysis
Stabilizing HIF1A in hair follicles increases glycolysis, which may help reduce oxidative stress and support hair growth.
research Gene detection in a family with monilethrix and treatment with 5% topical minoxidil
5% topical minoxidil improves hair density and quality in monilethrix patients.
research 516 Dynein is involved in the movement, distribution, acidity, and transfer of melanosomes
Dynlt3 is important for melanosome transport and skin coloration.
research Analysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant mice
Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
research Urinary 5-ene-steroid excretion in non-classical congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency (NC-3BHSD)
Some women with excess hair growth have a hormone condition that can't be diagnosed by blood or urine tests alone.
research The effects of finasteride (FIN) and thioacetamide (TAA) on acetylcholinesterase (AchE) activity in various brain regions.
research Mechanistic insights into 5-aminolevulinic acid photodynamic therapy for acne vulgaris: targeting lipogenesis via the OLR1-Wnt/β-catenin pathway
5-aminolevulinic acid therapy reduces acne by decreasing fat production in skin cells.