research Functional Evaluation of Novel CYP21A2 Variants: Expanding the Genetic Basis of Non-Classic Congenital Adrenal Hyperplasia
Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
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research Functional Evaluation of Novel CYP21A2 Variants: Expanding the Genetic Basis of Non-Classic CAH
Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research Occult Fungal Infection as the Underlying Pathogenic Cause of Atherogenesis
Hidden fungal infections might cause heart disease and clogged arteries.
research In Vivo and In Vitro Exposure to Free Fatty Acids Induce Increased Androgen Production in Animal Models: A Potential Pathogenic Factor of Polycystic Ovary Syndrome
Free fatty acids may increase androgen production, potentially contributing to polycystic ovary syndrome.
research Dihydrotestosterone And The Prostate: The Scientific Rationale For 5α-Reductase Inhibitors In The Treatment Of Benign Prostatic Hyperplasia
Drugs that block DHT production can effectively treat enlarged prostate and improve urinary issues with some sexual side effects.
research 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 The Role of the Leaky Gut in the Development of Alopecia Areata
A compromised gut may trigger the autoimmune hair loss condition Alopecia Areata.
research Epidermolysis Bullosa Simplex in Children with De Novo Pathogenic Variants Disturbing KRT14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
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 Cross-Comparison of Inflammatory Skin Disease Transcriptomics Identifies PTEN as a Pathogenic Disease Classifier in Cutaneous Lupus Erythematosus
PTEN was identified as a specific marker for the skin disease cutaneous lupus erythematosus, and it helps increase the expression of harmful type I interferons.
research Tumor Development in Lynch Syndrome: Genes Load the Gun, Lifestyle Pulls the Trigger?
Lifestyle factors like BMI at young adulthood can increase cancer risk in women with Lynch Syndrome, but diet and height don't seem to affect this risk.
research Glucocorticoid Resistance Syndrome in Two Patients With Diverse Genotype
Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
research Phenotypic Heterogeneity of Epidermolysis Bullosa Associated With the Recurrent Pathogenic Variant p.(Arg2000Trp) in Plectin
The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
research Scalp Biomarkers During Dupilumab Treatment Support Th2 Pathway Pathogenicity in Alopecia Areata
Dupilumab treatment reduces Th2-related markers and helps hair growth in alopecia areata, showing Th2's role in the condition.
research Expanding on the Phenotypic Spectrum of Woodhouse-Sakati Syndrome Due to Founder Pathogenic Variant in DCAF17: Report of 58 Additional Patients from Qatar and Literature Review
Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.
research Identification of Beta-Sitosterol and Stigmasterol as Possible Inhibitors of 5 Alpha-Reductase 1: An In-Silico Study
Beta-sitosterol and stigmasterol might help prevent hair loss by blocking a specific enzyme.
research Cardiovascular Features in Adult Individuals Affected with Tatton-Brown-Rahman Syndrome
Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
research Diagnosis and Management of Vascular Ehlers-Danlos Syndrome: Experience of the UK National Diagnostic Service, Sheffield
The UK's EDS National Diagnostic Service found that early diagnosis, lifestyle advice, and regular check-ups are crucial for managing vascular Ehlers-Danlos syndrome. A combination of losartan and bisoprolol can reduce vascular events, improving survival and quality of life.
research Efficacy, Tolerability, and Safety of Montelukast Versus Finasteride for the Treatment of Moderate Acne in Women: A Prospective, Randomized, Single-Blinded, Active-Controlled Trial
Finasteride is more effective and satisfactory than montelukast for treating moderate acne in women.
research Molecular–Clinical Correlations in a Family with Variable Tissue Mitochondrial DNA T8993G Mutant Load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research Hyposecretion of the Adrenal Androgen Dehydroepiandrosterone Sulfate (DHEA-S) in the Majority of Alopecia Areata Patients: Is It a Primitive and Pathogenic Perturbation of the Hypothalamic-Pituitary-Adrenal Axis?
Low DHEA-S levels might be linked to alopecia areata and could be a potential treatment target.
research Faculty Opinions Recommendation of Association of Topical Minoxidil with Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Pathogenic Variants
research Polycystic Ovary Syndrome Diagnosis Does Not Predict Increased Hidradenitis Suppurativa Disease Severity
Having PCOS does not make hidradenitis suppurativa worse.
research Use of Propolis for Topical Treatment of Dermatophytosis in Dogs
Propolis was effective in treating ringworm and other skin conditions in dogs.
research Combined Drug Triads for Synergistic Neuroprotection in Retinal Degeneration
Using three different drugs together may better treat eye diseases like glaucoma and macular degeneration.
research Polycystic Ovary Syndrome: Clinical Aspects
The document says that understanding the causes of PCOS is important for treatment, especially in distinguishing the syndrome from just having cystic ovaries, and that losing weight is key for obese women with PCOS.
research A Young Girl With Lupus, Recurrent Pericardial Effusion, And Cardiac Tamponade
Adding colchicine stopped the girl's recurring heart issues caused by lupus.
research MiR-199a-3p Regulates the PTPRF/β-Catenin Axis in Hair Follicle Development: Insights into the Pathogenic Mechanism of Alopecia Areata
miR-199a-3p controls hair growth and is linked to alopecia areata.
research HMGB1 Promotes Hair Growth via the Modulation of Prostaglandin Metabolism
A protein called HMGB1 helps hair grow by affecting prostaglandin metabolism.
research Clinical and Molecular Features in a Cohort of Middle Eastern Patients With Epidermolysis Bullosa
Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.