research Association of follicle-stimulating hormone receptor gene ser680 asn (rs6166) polymorphism with polycystic ovarian syndrome
A certain genetic variation is linked to a higher risk of polycystic ovarian syndrome.
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270-300 / 1000+ results research Delta‐6 desaturase knockout mouse illustrates previously undocumented pathology
Lack of certain fatty acids causes skin, immune, and fertility issues in mice.
research A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb
research Post SARS-CoV-2 vaccination effluvium
The study focused on a family with Junctional epidermolysis bullosa (JEB), a rare genetic disorder, to confirm their diagnosis and identify the pathogenic variant. Researchers collected clinical data and DNA from the family members, utilizing whole-exome sequencing and Sanger sequencing to detect gene variants. They discovered a novel splice-site variant (c.629-12T>G) in the LAMB3 gene, which was present in all patients and confirmed as pathogenic through in vitro experiments using the pMINI minigene system. The study concluded that diagnosing JEB should rely on gene sequencing, as splice site variants can also cause the disease.
research Pallister-Killian Syndrome
Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
research Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
research 710 BIOMARKERS OF SUNITNIB CLINICAL RESPONSE IN METASTATIC RENAL CLEAR CELL CARCINOMA PATIENTS
research ^Discount Available^ Skincell Advanced Reviews: [Urgent Update] What to Know Before Buy!
research Quiz questions from dermatosurgery
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 Buy Kerablak Calcium Pantothenate Tablet – Online Generic Medicine
research Buy Kerablak Calcium Pantothenate Tablet – Online Generic Medicine
research 115 AE法による実機水車発電機軸受の診断(セッション4 評価・診断II)
KSR1 is crucial for certain skin tumor formation and could be a cancer therapy target.
research 267 Deep phenotyping of patients with xeroderma pigmentosum and trichothiodystrophy
Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
research 892 Behavior of the two circulating androgens testosterone and DHEA and their main intracellular metabolites in an androgen-sensitive sebocyte cell line
Testosterone affects androgen receptors and lipid storage in cells, while DHEA does not convert to testosterone or affect these receptors in the same way.
research Suprabasal change and subsequent formation of disulfide-stabilized homo- and hetero-dimers of keratins during esophageal epithelial differentiation
Keratins K4 and K13 form stable dimers in mature esophageal cells, aiding cell stability.
research Multiple layers structured polyvinyl alcohol/titanium dioxide@polydopamine/ZIF-8 composite fibers and their minoxidil-loaded composites
research Fine mapping of the human AR/EDA2R locus in androgenetic alopecia
Genetic marker rs12558842 strongly linked to male hair loss.
research Kudos
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research 085 Coordinate expressions of cyclin-dependent kinase inhibitors and high sulfur protein in human hair follicles
research Proceedings from the 7th Annual University of Calgary Leaders in Medicine Research Symposium
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research 089 Single-cell RNA sequencing defines molecular similarities between patch/plaque-stage mycosis fungoides and atopic dermatitis under dupilumab
research Dapsone Therapy for Pustular Psoriasis: Case Series and Review of the Literature
Dapsone improved pustular psoriasis in patients who didn't respond to other treatments and is considered a well-tolerated option.
research Serum elevation of dehydroepiandrosterone sulfate associated with male pattern baldness in young men
High DHEA-S levels may cause hair loss in young men.
research Pharmacokinetics, toxicity, and activity of intravenous dextran sulfate in human immunodeficiency virus infection
Dextran sulfate was found to be toxic and ineffective for treating HIV.
research Vertical strip harvesting: A personal technique
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research Novel Missense Mutation in the P-Box of Androgen Receptor in a Patient with Androgen Insensitivity Syndrome
A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
research Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
research 44180 Influence of Baseline Disease Severity Defined by Investigator’s Global Assessment on Abrocitinib Efficacy for up to 96 Weeks in Patients With Moderate-to-Severe Atopic Dermatitis: Interim Analysis of JADE EXTEND, a Long-Term Extension Study
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.