research Arginosuccinicaciduria
The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
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690-720 / 1000+ resultsresearch A case of encephalocraniocutaneous lipomatosis
The document reports a rare case of ECCL with a new association with optic disc colobomas.
research A new tool for conditional gene manipulation in a subset of keratin‐expressing epithelia
The Megsin-Cre transgene is a new tool for genetic manipulation in the skin and upper digestive tract.
research Unilateral branch retinal artery occlusion in a patient with systemic lupus erythematosus
Systemic lupus erythematosus treatment can restore vision in patients with retinal artery occlusion.
research LncRNA MSTRG.14227.1 regulates the morphogenesis of secondary hair follicles in Inner Mongolia cashmere goats via targeting ADAMTS3 by sponging chi-miR-433
LncRNA MSTRG.14227.1 hinders hair follicle development in cashmere goats, affecting cashmere quality.
research Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14
A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
research Very-long-chain Acyl-CoA Synthetases
Very-long-chain acyl-CoA synthetases and fatty acid transport proteins play key roles in fatty acid metabolism and lipid processing in different tissues.
research PCSK9: From Nature’s Loss to Patient’s Gain
Certain genetic mutations can lower bad cholesterol and reduce heart disease risk, leading to effective cholesterol-lowering drugs.
research The antiviral activity of a small molecule drug targeting the NSP1-ribosome complex against Omicron, especially in elderly patients
Golvatinib shows promise as a treatment for Omicron in elderly patients.
research DEVELOPMENT AND VALIDATION OF A RP - HPLC METHOD FOR THE SIMULTANEOUS DETERMINATION OF SPIRONOLACTONE AND HYDROCHLOROTHIAZIDE IN PURE AND PHARMACEUTICAL DOSAGE FORM
A new accurate and reliable method was developed to measure Spironolactone and Hydrochlorothiazide together in medicines.
research DYS459, DYS391, DYS388 and DYS19 genetic loci have high allelic frequency in patients with prostate cancer
Certain genetic markers may increase or decrease prostate cancer risk.
research Squarticles as the nanoantidotes to sequester the overdosed antidepressant for detoxification
Tiny particles called anionic squarticles can effectively remove a common antidepressant from the body after an overdose.
research All Subcomponents of the Cutaneous Lupus Erythematosus Disease Area and Severity Index–Activity (CLASI-A) are Relevant to Identify and Detect Changes in Skin Activity
All parts of the CLASI-A score are important for assessing skin activity in cutaneous lupus erythematosus.
research HAIR TONIC ACTIVITY TEST OF THE LEAVES OF THE LAW OF THE LAW (SANSEVIERIA TRIFASCIATA PRAIN) ON HAIR GROWTH OF MALE RABBITS (LEPUS NIGRICOLLIS)
Mother-in-law's tongue leaf extract at 20% concentration significantly promotes hair growth in male rabbits.
research Correlation Analysis of BLTP1 (KIAA1109) and KIF27 Gene Polymorphisms with Wool Traits in Subo Merino Sheep
BLTP1 and KIF27 gene mutations can help breed better wool sheep.
research Palladium nanoparticles on a pyridinium supported ionic liquid phase: a recyclable and low-leaching palladium catalyst for aminocarbonylation reactions
The new palladium catalyst is effective and reusable for making pharmaceutical ingredients.
research Impaired turnover of autophagolysosomes in cathepsin L deficiency
Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
research Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research Sdr16c5 and Sdr16c6 control a dormant pathway at a bifurcation point between meibogenesis and sebogenesis
Sdr16c5 and Sdr16c6 genes regulate a key point in lipid production that affects eye and skin gland function.
research Study of Human Leukocyte Antigen ( HLA ) in 13 cases of familial frontal fibrosing alopecia: CYP 21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA ‐ A*33:01 ; B*14:02; C*08:02 as a genetic marker
A genetic marker linked to a type of hair loss was found in most patients studied.
research Decreased selenium intake and low plasma selenium concentrations leading to clinical symptoms in a child with propionic acidaemia
Selenium deficiency caused symptoms in a child, which improved with selenium supplements.
research LO-009 Responsiveness of the CLASI to alopecia and mucous membrane involvement: a retrospective study of prospectively collected data
Excluding alopecia and mucous membrane components from the CLASI-A score reduces its effectiveness in capturing important disease activity.
research USE OF UPADACITINIB IN 2 CASES OF REFRACTORY SYSTEMIC LUPUS ERYTHEMATOSUS
Upadacitinib may help treat difficult cases of systemic lupus erythematosus.
research Liquid chromatography-mass spectrometry for simultaneous determination of spironolactone and canrenone in plasma samples
A method was found to accurately measure spironolactone and canrenone in blood samples using liquid chromatography-mass spectrometry.
research Therapeutic Efficacy of Spironolactone for Central Serous Chorioretinopathy
Spironolactone helps reduce fluid in the eye in Central Serous Chorioretinopathy, but doesn't improve vision and recurrence is common.
research Dyschromatosis Universalis Hereditaria: Report of a case and Review of the Literature
A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
research Copy number variation regions in Nellore cattle: Evidences of environment adaptation
Nellore cattle have genetic variations linked to their adaptation to tropical environments.
research Soft-tissue calcification in systemic lupus erythematosus
Soft-tissue calcification is rare in systemic lupus erythematosus.
research Molecular crosstalk between lncRNA H19, miR-29a, and JAK2/STAT3 signaling in alopecia areata: a preliminary study
research 308-nm Excimer Lamp vs. Combination of 308-nm Excimer Lamp and 10% Liquor Carbonis Detergens in Patients With Scalp Psoriasis: A Randomized, Single-Blinded, Controlled Trial
The combination of the excimer lamp and liquor carbonis detergens is more effective for scalp psoriasis than the lamp alone.