research Skin Features in Myotonic Dystrophy Type 1: An Observational Study
People with Myotonic Dystrophy type 1 are more likely to have certain skin conditions, but not more likely to get skin cancer.
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research Nonclassic Congenital Adrenal Hyperplasia and the Heterozygote Carrier
Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
research Delayed Puberty: Diagnosis and Management of Congenital Idiopathic Hypogonadotropic Hypogonadism
A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
research Phenotypic Characterization of Patients with Polycystic Ovary Syndrome in a Population from the Ecuadorian Andes: A Cross-Sectional Study
Classical PCOS types A and B are most common and linked to higher health risks.
research Variable Expressivity of Syndromic BMP4-Related Eye, Brain, and Digital Anomalies: A Review of the Literature and Description of Three New Cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
research The Pressing Need for Standardization in Epidemiologic Studies of PCOS Across the Globe
The article concludes that global standardization in PCOS research is crucial for accurate diagnosis and understanding of the condition.
research British Society for Pediatric Dermatology Annual Meeting, Sheffield, 18-19 November 2016
The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
research No Evidence That 2D:4D Is Related to the Number of CAG Repeats in the Androgen Receptor Gene
Finger length ratios are not linked to the number of specific gene repeats affecting testosterone sensitivity.
research A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
A specific gene mutation causes congenital hair loss.
research Global Landscapes of Human Phenotypic Variation in Inherited Traits
Different human traits like skin color and hair type vary between populations due to genetic adaptations to the environment.
research Admixture in Latin America: Geographic Structure, Phenotypic Diversity, and Self-Perception of Ancestry Based on 7,342 Individuals
The study found that in Latin America, ancestry varies by location, influences physical traits, and affects how people perceive their own heritage.
research The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End of KRT10
Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
research Phenotypic Analysis of T-Cells in Extensive Alopecia Areata Scalp Suggests Partial Tolerance
T-cells in alopecia areata scalp show abnormal regulation, leading to less inflammation.
research Food Administration and Not Genetic Variants Causes Pharmacokinetic Variability of Tadalafil and Finasteride
Food intake, not genetics, affects how the body processes tadalafil and finasteride.
research Distinct Phenotypic and Genomic Signatures Underlie Contrasting Pathogenic Potential of Staphylococcus Epidermidis Clonal Lineages
Staphylococcus epidermidis A/C strains are more antibiotic-resistant and infection-adapted, while B strains thrive in hair follicles.
research Comparative Genome Analyses Reveal the Unique Genetic Composition and Selection Signals Underlying the Phenotypic Characteristics of Three Chinese Domestic Goat Breeds
Chinese domestic goats have unique genetic traits due to domestication and geographic isolation.
research Focal Dermal Hypoplasia Associated With Lymphedema: A Case Report From Saudi Arabia
A 12-year-old girl in Saudi Arabia with Focal dermal hypoplasia showed skin and dental symptoms, highlighting the condition's variability and the need for personalized treatment.
research Variation and Heritability in Hair Diameter and Curvature in an Australian Twin Sample
Hair diameter and curvature are mostly determined by genetics.
research Cross-Species Sensitivity to a Novel Androgen Receptor Agonist of Potential Environmental Concern, Spironolactone
Spironolactone harms fish reproduction and is more potent in fish than invertebrates, needing environmental monitoring.
research Whole-Genome Sequencing of Eight Goat Populations for the Detection of Selection Signatures Underlying Production and Adaptive Traits
Researchers identified genes linked to coat color, body size, cashmere production, and high altitude adaptation in goats.
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.
research Tumor Mapping in Two Large Multigenerational Families With CYLD Mutations
CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
research The CLE40 and CRN/CLV2 Signaling Pathways Antagonistically Control Root Meristem Growth in Arabidopsis
CLE40 and CRN/CLV2 pathways have opposite effects on root growth in Arabidopsis.
research Understanding the Role of Prostaglandin E2 in Regulating Human Platelet Activity in Health and Disease
Prostaglandin E2 affects human platelet activity in complex ways that could lead to personalized heart disease treatments.
research Visually Scoring Hirsutism
The modified Ferriman-Gallwey method is a useful tool for diagnosing hirsutism.
research Next Generation Human Skin Constructs as Advanced Tools for Drug Development
Advanced human skin models improve drug development and could replace animal testing.
research 5-Alpha-Reductase Type 2 Deficiency: Is There a Genotype-Phenotype Correlation? A Review
No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
research The Transcriptional Landscape of Seasonal Coat Color Moult in the Snowshoe Hare
Researchers found genes that control hair color and growth change before the visible coat color changes in snowshoe hares.
research Evaluation and Treatment of Gender Dysphoria to Prepare for Gender Confirmation Surgery
The document concludes that non-operative treatment for gender dysphoria is safe and effective, and hormone therapy does not increase cancer risk.
research Prevalence of Polycystic Ovary Syndrome in Thai University Adolescents
About 5% of Thai university girls aged 17-19 have polycystic ovary syndrome, with moderate acne being a strong risk factor.