research Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
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research Spatiotemporal control of CRISPR/Cas9 gene editing
The document concludes that while there are promising methods to control CRISPR/Cas9 gene editing, more research is needed to overcome challenges related to safety and effectiveness for clinical use.
research Cystathionine β‐synthase‐deficient mice thrive on a low‐methionine diet
Mice with CBS deficiency are healthier on a low-methionine diet.
research Safe Selection of Genetically Manipulated Human Primary Keratinocytes with Very High Growth Potential Using CD24
Researchers found a safe and effective way to pick genetically modified skin cells with high growth potential using CD24.
research The hairless gene in androgenetic alopecia: results of a systematic mutation screening and a family-based association approach
Hairless gene not strongly linked to baldness.
research CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia
The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
research The Effect of Simvastatin on Plasma Steroid Hormone Levels in Metformin-Treated Women with Non-Classic Congenital Adrenal Hyperplasia
Simvastatin may help manage symptoms in women with non-classic congenital adrenal hyperplasia by lowering cholesterol and certain hormone levels.
research The effect of topical minoxidil treatment on hair follicular growth of neonatal hairless descendants of Mexican hairless dogs
Minoxidil treatment can stimulate hair growth in hairless puppies if applied early.
research Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1
A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
research MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
research Corneodesmosin: Structure, Function and Involvement in Pathophysiology
Corneodesmosin is essential for skin and hair health, and its dysfunction can lead to skin and hair disorders.
research Challenges in the Diagnosis of Simple-Virilizing Congenital Adrenal Hyperplasia: A Case Report
Diagnosing simple-virilizing congenital adrenal hyperplasia can be difficult and requires thorough testing and expert advice.
research Novel associations of VPS13C with phenotype and conversion of idiopathic REM sleep behavior disorder
VPS13C variants are linked to more severe REM sleep disorder and faster progression to Parkinson's disease.
research Metformin and Amoxicillin/Clavulanate as Co-Administration for the Treatment of Hyperglycemia in Female Rats Caused by Alloxan.
Combining metformin with amoxicillin/clavulanate lowers blood sugar in diabetic female rats.
research News and Notices
The document discusses new cosmetic dermatology technologies, safety, robotic hair restoration, and upcoming courses on genomics and skin cancer management.
research Unravelling the link between insulin resistance and androgen excess
AKR1C3 could be a treatment target for metabolic issues in PCOS.
research The keratins and their disorders
Mutations in keratin genes cause cell fragility and various skin disorders.
research Compound Follicles in Folliculitis Decalvans Do Not Contain Vellus and Retained Telogen Follicles—A Pilot Histopathologic Series on Polytrichia
Compound follicles in folliculitis decalvans mainly have active hair follicles.
research ROLLED HAIRS AND HYPERTRICHOSIS
A 15-year-old girl with hypothyroidism had excess hair and skin issues due to blocked hair follicles.
research MOF-mediated Histone H4 Lysine 16 Acetylation Governs Mitochondrial and Ciliary Functions By Controlling Gene Promoters
MOF controls skin development by regulating genes for mitochondria and cilia.
research Controversial Concepts
The author now believes tricholemmal carcinoma is a rare type of infundibular squamous cell carcinoma and more research is needed on these tumors.
research Pathologic Quiz Case: Unexplained Hair Loss—1 Boy, 2 Cats, and 1 Dog
The boy had trichotillomania, causing hair loss, and treatment focused on habit reversal and support.
research Folliculotropic Mycosis Fungoides with Skewed T-cell Receptor CDR3 Motif: Suggestive of Lipid-antigen Selection?
Lipid-antigen stimulation may play a role in folliculotropic mycosis fungoides.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Functional redundancy of Frizzled 3 and Frizzled 6 in planar cell polarity control of mouse hair follicles
Frizzled 3 and Frizzled 6 together control the orientation of mouse hair follicles.
research Pathological Studies of Cross‐Related Congenital Hypotrichosis in Cattle
Crossbreeding certain European cattle breeds may cause hair and physical issues in cattle.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
research Trichoscopic characteristics as diagnostic indicators for grading of female pattern hair loss severity in skin of color: A multicentric retrospective study by the International Dermoscopy Society
Trichoscopic parameters reliably indicate the severity of female pattern hair loss.
research Independent DSG4 frameshift variants in cats with hair shaft dystrophy
Cats with abnormal hair had DSG4 gene changes causing hair problems.
research Focal Scalp Hair Heterochromia in an Infant
An infant had two different natural hair colors on the scalp with no health issues.