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.
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390-420 / 1000+ resultsresearch Netherton Syndrome
Netherton syndrome is a genetic skin disorder causing severe skin issues and requires careful treatment to protect the skin barrier.
research Phénylcétonurie de l’adulte : manifestations neurologiques et modalités évolutives
Proper diet management is crucial for preventing severe symptoms in phenylketonuria.
research The Case Files
The man's skin condition improved with sun protection and topical steroids, but UV exposure still caused flare-ups.
research Evaluation of oxidative stress, 3-Nitrotyrosine, and HMGB-1 levels in patients with wet type Age-Related Macular Degeneration
wAMD patients have higher oxidative stress, suggesting antioxidant treatment may help.
research DNMT1 targets SRD5A2 to induce mitochondrial homeostasis and EMT in urothelial cells of hypospadias
DNMT1 may help treat hypospadias by improving cell function and preventing unwanted cell changes.
research NUDT15 R139C-related thiopurine leukocytopenia is mediated by 6-thioguanine nucleotide-independent mechanism in Japanese patients with inflammatory bowel disease
The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.
research Spermidine/spermine-N1-acetyltransferase: a key metabolic regulator
SSAT is a key enzyme affecting cell growth and metabolism, with potential but risky use in disease treatment.
research Metastatic Embryonal Cell Carcinoma with High Testosterone and Absence of Secondary Sexual Characteristics
Treatment restored normal sexual characteristics and blood condition in a patient with testicular cancer.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
research Trastuzumab Induced Chemobrain, Atorvastatin Rescued Chemobrain with Enhanced Anticancer Effect and without Hair Loss-Side Effect
Atorvastatin reversed memory problems caused by cancer drug trastuzumab and improved its cancer-fighting abilities without causing hair loss.
research DNA Damage Response Mediates Pressure Overload–Induced Cardiomyocyte Hypertrophy
Targeting ATM could help manage heart cell enlargement due to pressure overload.
research 66-Year-Old Woman With Painless Vesicular Lesions
A 66-year-old woman with skin lesions and other symptoms improved after treatment for porphyria cutanea tarda.
research S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis
Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
research Enhanced therapeutic effects of all-trans retinoic acid nanostructured lipid carrier composite gel drug delivery system for alopecia areata
The gel improves hair regrowth and reduces irritation in alopecia areata treatment.
research 13-cis-Retinoic Acid Affects Sheath-Shaft Interactions of Equine Hair Follicles in Vitro
research Electron microscopic observation of skin and hair on a case of Netherton syndrome
Netherton syndrome causes specific skin and hair changes that help in early diagnosis.
research Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities
Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
research [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].
A gene mutation causes monilethrix in a Chinese family.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation
Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
research Acquired Localized Hypertrichosis Induced by Rivastigmine
An 80-year-old man grew extra hair on his forearms after starting Alzheimer's medication rivastigmine.
research Antipsoriatic Activity of a New Synthetic Retinoid
The new synthetic retinoid RO 13-6298 effectively treated severe psoriasis at low doses with manageable side effects.
research Identification of the C-terminal tail domain of AHF/trichohyalin as the critical site for modulation of the keratin filamentous meshwork in the keratinocyte
The C-terminal tail of AHF/trichohyalin is essential for organizing keratin filaments in keratinocytes.
research Effect of Retinoids on Follicular Cells.
research Tether-induced tenosynovitis: The importance of an intact skin barrier
An intact skin barrier is crucial to prevent infection in cases of tether-induced tenosynovitis.
research Increasing the percutaneous absorption and follicular penetration of retinal by topical application of proretinal nanoparticles
Proretinal nanoparticles improve skin absorption and reduce irritation of topical retinoids.
research Finasteride for Chronic Central Serous Chorioretinopathy
research Molecular mechanism for transcriptional regulation of the parathyroid hormone gene by Epiprofin
Epiprofin suppresses parathyroid hormone gene activity, helping regulate calcium levels and could be a treatment target for hyperparathyroidism.
research Activation of the integrated stress response in human hair follicles
Blocking the Mitochondrial Pyruvate Carrier causes stress in hair follicles, which can be reduced by an ISR inhibitor.
research A case of 21-hydroxylase deficiency in Turner′s syndrome and literature review
Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.