research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
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research Quantitative Evaluation of Female Pattern Hair Loss in Chinese Women
Computer-aided imaging system accurately measures baldness in Chinese women with hair loss.
research Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
A specific gene mutation causes severe skin and nail issues and hair loss.
research Hyperandrogenism, Elevated 17-Hydroxyprogesterone and Its Urinary Metabolites in a Young Woman with Ovarian Steroid Cell Tumor, Not Otherwise Specified: Case Report and Review of the Literature
A young woman's symptoms suggested PCOS, but tests and surgery confirmed and treated a rare ovarian tumor, resolving her condition.
research MON-323 Metastatic Adrenocortical Carcinoma Presenting with Mixed Cushing's and Virilization Syndrome along with Bilateral Pulmonary Emboli
Rapid virilization should be checked for possible ovarian or adrenal cancer.
research Immunohistochemical expression of cytokeratin 15, cytokeratin 19, follistatin, and Bmi-1 in basal cell carcinoma
CK 15, follistatin, and Bmi-1 can help differentiate basal cell carcinoma from squamous cell carcinoma.
research Cutaneous Granular Cell Tumor with Overlying Hypertrichosis in an Adult: A Rare Case Report
A rare skin tumor with extra hair growth was found and safely removed from a 27-year-old woman.
research The relationship between keratin 18 and epithelial-derived tumors: as a diagnostic marker, prognostic marker, and its role in tumorigenesis
Keratin 18 helps diagnose and predict cancer progression and affects cancer growth and spread.
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 A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats
A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.
research The long road traveled in hematopoietic stem cell gene therapy
The FDA approved the first gene therapy for a blood disorder after overcoming early challenges and demonstrating patient benefits.
research Trichoscopy of Central Centrifugal Cicatricial Alopecia: A Retrospective Study and Literature Review
Early diagnosis with trichoscopy can improve management and quality of life for CCCA patients.
research Study of endocrinal profile and trichoscopic features in female pattern hair loss at tertiary care hospital
Hormonal imbalances contribute to female hair loss, and trichoscopy is a useful diagnostic tool.
research PA15 Becker naevus syndrome associated with a mosaic pathogenic variant in ACTB
A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
research Office Diagnosis of Hair Shaft Defects
The document explains how to identify different hair problems using a microscope.
research Complete sequence of a hair-like intermediate filament type II keratin gene
KRT2.13 gene is similar to KRT2.9 but not expressed in hair follicles.
research Hormonal profiles and the diagnostic utility of serum dihydrotestosterone in polycystic ovary syndrome: a comparative case-control study
High serum DHT levels can help diagnose PCOS.
research Update on the Genetics of Androgenetic Alopecia, Female Pattern Hair Loss, and Alopecia Areata: Implications for Molecular Diagnostic Testing
Genetic factors affect hair loss, and molecular testing may help predict, diagnose, and treat it.
research Trichoscopy - a useful tool in the preliminary differential diagnosis of autoimmune bullous diseases
Trichoscopy helps quickly identify autoimmune diseases on the scalp but should be used with other standard tests.
research Trichoscopic findings in various alopecias at tertiary referral center: A cross-sectional study
Trichoscopy is useful for quickly diagnosing different types of hair loss without needing biopsies.
research Optimized polycystic ovarian disease prognosis and classification using AI based computational approaches on multi-modality data
AI can improve early diagnosis and classification of PCOS, aiding in prevention of related health issues.
research Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATPChannel Mutations in Intact Cells
Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
research Development of a DNA-analytical Method for the Identification of Animal Hair Fibers in Textiles
Researchers developed a new method to identify animal hair in textiles, which is effective for various fibers and more reliable than previous methods.
research A genetic electrophoretic variant of high-sulfur hair proteins for forensic hair comparisons. I. Characterization of variant high-sulfur proteins of human hair.
A genetic hair protein variant is more common in Japanese people and is inherited.
research Evaluation of noninvasive biospecimens for transcriptome studies
Hair follicles and urine cell pellets are promising for transcriptome studies.
research Fourier Transform Infrared Attenuated Total Reflection Analysis of Human Hair: Comparison of Hair from Breast Cancer Patients with Hair from Healthy Subjects
Hair from breast cancer patients shows changes in structure and composition, and a test using these changes detected cancer but also falsely identified some healthy samples as cancerous.
research Prevalence and characteristics of polycystic ovary syndrome in Brazilian women: protocol for a nation-wide case–control study
PCOS is common in Brazilian women and linked to metabolic and reproductive issues.
research Fluorescence Activated Cell Sorting (FACS) of CK15 Cells in Canine Hair Follicular Tissue
Canine hair follicle cells show stem cell properties, aiding hair growth.
research Screening for Abnormal Glucose Metabolism in Adolescents with Polycystic Ovary Syndrome (PCOS)
Teens with PCOS have a higher risk of type 2 diabetes and need regular glucose checks.
research MANAGEMENT OF ENDOCRINE DISEASE Hyperandrogenic states in women: pitfalls in laboratory diagnosis
Diagnosing hyperandrogenism in women is complex and requires accurate testing methods and consideration of SHBG levels.