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.
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research The Nuclear Vitamin D Receptor: Biological and Molecular Regulatory Properties Revealed
The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.
research Evaluation of DNA Variants Associated with Androgenetic Alopecia and Their Potential to Predict Male Pattern Baldness
DNA variants can predict male pattern baldness, with higher risk scores increasing baldness likelihood.
research Adult Patients with Aphallia: Were They Fertile?
The document does not determine if adults with aphallia are fertile.
research Metabolomic Biomarkers in Women with Polycystic Ovary Syndrome: A Pilot Study
Certain metabolites are lower in women with PCOS and could be potential markers for the condition.
research 46, XY Disorder of Sexual Development with Ambiguous Female External Genitalia: A Case Report
A 13-year-old with 46 XY DSD had ambiguous genitalia due to incomplete masculinization.
research Mechanism-Based Inhibition of Human Steroid 5α-Reductase by Finasteride: Enzyme-Catalyzed Formation of NADP-Dihydrofinasteride, a Potent Bisubstrate Analog Inhibitor
Finasteride effectively blocks enzyme causing male pattern baldness.
research Inactivation of Autophagy Leads to Changes in Sebaceous Gland Morphology and Function
Autophagy is crucial for normal sebaceous gland function and sebum composition.
research Ichthyosis
The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
research Longitudinal Clinical Course in Patients With 5α-Reductase Type 2 Deficiency Treated With Testosterone and Dihydrotestosterone During Infancy and Puberty
Testosterone and dihydrotestosterone treatments can help with penile growth in males with 5α-reductase type 2 deficiency, with dihydrotestosterone being more effective in infancy.
research Finding Long-COVID: Temporal Topic Modeling of Electronic Health Records from the N3C and RECOVER Programs
Long-COVID has diverse, long-term health impacts, especially in young people.
research Severe Impact of Late Diagnosis of Congenital Adrenal Hyperplasia on Gender Identity, Sexual Orientation, and Function: Case Report and Review of the Literature
Late diagnosis of congenital adrenal hyperplasia can greatly affect physical development, gender identity, and sexual health.
research Alopecia Areata Susceptibility Variant in MHC Region Impacts Expressions of Genes Contributing to Hair Keratinization and Is Involved in Hair Loss
A gene variant increases the risk of a type of hair loss by affecting hair protein production.
research Proxalutamide Reduces the Rate of Hospitalization for COVID-19 Male Outpatients: A Randomized Double-Blinded Placebo-Controlled Trial
Proxalutamide significantly lowered hospital admissions for male COVID-19 patients compared to a placebo.
research The Pathogenesis of Primary Cicatricial Alopecias
The document concludes that more research is needed to better understand and treat primary cicatricial alopecias, and suggests a possible reclassification based on molecular pathways.
research Male-Pattern Hair Loss: Comprehensive Identification of the Associated Genes as a Basis for Understanding Pathophysiology
Male-pattern hair loss is largely influenced by genetics, with key genes identified.
research Biochemistry of Epidermal Stem Cells
The review found that different stem cell types in the skin are crucial for repair and could help treat skin diseases and cancer.
research 46,XY DSD Due to Impaired Androgen Production
Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
research Over-Expression of Thymosin Beta4 Promotes Abnormal Tooth Development and Stimulation of Hair Growth
Too much thymosin beta4 causes weird teeth and more hair growth in mice.
research Hormonal Regulation in Male Androgenetic Alopecia: Sex Hormones and Beyond - Evidence from Recent Genetic Studies
Hormones and genes affect hair growth and male baldness.
research New Challenge to Cancer and Longevity
A group has developed therapies that show promise for treating cancer and various other conditions.
research Type 2 Innate Immunity Regulates Hair Follicle Homeostasis to Control Demodex Pathosymbionts
A specific immune response helps control mite populations on the skin, maintaining healthy hair follicles.
research Maternal PPARγ Protects Nursing Neonates by Suppressing the Production of Inflammatory Milk
A mother's PPARγ is crucial for preventing harmful milk that can cause inflammation and growth problems in babies.
research Congenital Adrenal Hyperplasia: A Comprehensive Review
The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.
research Data-Driven Analysis to Understand Long COVID Using Electronic Health Records From the RECOVER Initiative
Long COVID patients have more health issues than non-infected people.
research Protoporphyrin IX: The Good, the Bad, and the Ugly
Protoporphyrin IX is useful in cancer treatment but can cause health problems if not properly regulated.
research Structural and Molecular Hair Abnormalities in Trichothiodystrophy
TTD hair brittleness is caused by multiple structural abnormalities.
research Roles of Wnt7a in Embryo Development, Tissue Homeostasis, and Human Diseases
Wnt7a protein is crucial for development and tissue maintenance and plays varying roles in diseases and potential treatments.
research Non-Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Revisited: An Update with a Special Focus on Adolescent and Adult Women
The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.
research Alopecia Areata Susceptibility Variant Identified by MHC Risk Haplotype Sequencing Reproduces Symptomatic Patched Hair Loss in Mice
A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.