research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
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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 NUDT15 Polymorphism Explains Serious Toxicity to Azathioprine in Indian Patients With Chronic Immune Thrombocytopenia and Autoimmune Hemolytic Anemia: A Case Series
The NUDT15 gene variant causes severe side effects from azathioprine in some Indian patients.
research Retinol Dehydrogenase 12 (RDH12): Role in Vision, Retinal Disease, and Future Perspectives
The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
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 High-Throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort
Some women with PCOS have rare genetic variants linked to the condition.
research Genetics of Polycystic Ovary Syndrome
PCOS has a strong genetic basis, but more research is needed to fully understand it.
research Recent Discoveries and Developments of Androgen Receptor-Based Therapy for Prostate Cancer
New treatments for prostate cancer are less toxic and show promise, but more research is needed to enhance their effectiveness and reduce side effects.
research Drug Safety Evaluation of Exemestane
Exemestane is effective and safe for treating certain breast cancers, with mild side effects, but needs more research on long-term effects.
research Androgenic Alopecia: Pathogenetic Mechanisms and Therapeutic Approaches
The document concludes that current treatments for androgenic alopecia are not fully effective, but new therapies like botulinum toxin and PRP show promise, and future gene therapy could be beneficial.
research Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency
Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
research Repurposing Existing Drugs for COVID-19: An Endocrinology Perspective
Existing drug dexamethasone may lower death risk in severe COVID-19 cases; more research needed for other drugs.
research The Implication of Neuroactive Steroids in Tourette's Syndrome Pathogenesis: A Role for 5α-Reductase?
Neuroactive steroids and the enzyme 5α-reductase might be involved in the development of Tourette's syndrome.
research Relationship Between Betacoronaviruses and the Endocrine System: A New Key to Understand the COVID-19 Pandemic—A Comprehensive Review
Betacoronaviruses, like COVID-19, may cause hormone system dysfunction and affect disease susceptibility and severity.
research PNKP Is Required for Maintaining the Integrity of Progenitor Cell Populations in Adult Mice
PNKP is essential for keeping adult mouse progenitor cells healthy and growing normally.
research Allopregnanolone Is Required for Prepulse Inhibition Deficits Induced by D1 Dopamine Receptor Activation
Allopregnanolone is needed for certain brain processing issues caused by D1 dopamine receptor activation.
research 5α-Reductase Type 2 Gene Variant Associations with Prostate Cancer Risk, Circulating Hormone Levels, and Androgenetic Alopecia
A49T gene variant linked to higher prostate cancer risk, lower hormone levels, and slightly reduced balding risk.
research Androgen Sensitivity Gateway to COVID-19 Disease Severity
Men's sensitivity to male hormones might affect how severe COVID-19 gets for them.
research Pharmacological BACE1 and BACE2 Inhibition Induces Hair Depigmentation by Inhibiting PMEL17 Processing in Mice
Blocking BACE1 and BACE2 enzymes causes hair color loss in mice.
research Finasteride Inhibits Melanogenesis Through Regulation of the Adenylate Cyclase in Melanocytes and Melanoma Cells
Finasteride reduces melanin production, possibly treating hyperpigmentation and melanoma, but needs more safety research.
research Host Genetic Susceptibility and Impacts of Dietary Factors on COVID-19
Certain genes and nutrients like vitamin D, zinc, and omega fatty acids affect COVID-19 severity and infection risk.
research Teriflunomide and Its Mechanism of Action in Multiple Sclerosis
Teriflunomide helps reduce multiple sclerosis symptoms and is safe for most patients.
research Sex Differences in COVID-19: The Role of Androgens in Disease Severity and Progression
Male hormones like testosterone may make COVID-19 worse, and testing for sensitivity to these hormones could help predict how severe a patient's symptoms might be. Treatments that reduce these hormones are being explored.
research Molecular Epidemiology of Hypospadias: Review of Genetic and Environmental Risk Factors
Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.
research Fine Mapping of the Human AR/EDA2R Locus in Androgenetic Alopecia
Genetic marker rs12558842 strongly linked to male hair loss.
research Why Were Sardinians the Shortest Europeans? A Journey Through Genes, Infections, Nutrition, and Sex
Sardinians were historically short due to a mix of genetics and factors like disease and poor nutrition, but recent height increases suggest better living conditions had a bigger impact.
research Therapeutic Control of Androgen Action
Understanding how androgens work is key for creating new treatments for prostate issues and hair/skin conditions.
research From Bedside to Bench: Regulation of Host Factors in SARS-CoV-2 Infection
The conclusion is that certain genetic factors and blood types may affect COVID-19 severity, but changes in ACE2 and TMPRSS2 genes are not clearly linked to it.
research Chitosan Stimulates Root Hair Callose Deposition and Inhibits Root Hair Growth
Chitosan slows root hair growth and causes a buildup of callose at low concentrations, but at high concentrations, it only inhibits growth without callose buildup.
research Microneedles in Improving Skin Appearance and Enhanced Delivery of Cosmeceuticals
Microneedle technology is effective for skin rejuvenation and enhancing cosmeceutical delivery, with ongoing innovation and increasing commercialization.