research Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
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research The Evaluation of IL-4 Intron 3 VNTR and TNF-α (rs1799964) Gene Polymorphisms in Egyptian Patients with Alopecia Areata: A Case-Control Study
These specific gene polymorphisms are not linked to Alopecia Areata in Egyptians.
research IL-17 Axis Is a Significant Driver of Skin Inflammation in CARD14 Mutant Pityriasis Rubra Pilaris Model Mice
Blocking IL-17 can reduce skin inflammation in a mouse model of pityriasis rubra pilaris.
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 Index
The document is a detailed medical reference on skin and genetic disorders.
research Genetics and Pathophysiology of Congenital Adrenal Hyperplasia
The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.
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 Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.
research Mosaic Hair Regrowth Pattern of Ophiasis and Androgenic Alopecia in a Patient With Alopecia Areata Totalis
The patient with total hair loss did not regrow hair despite treatment, indicating a poor outlook for this type of hair loss.
research The Androgen Excess and PCOS Society Criteria for the Polycystic Ovary Syndrome: The Complete Task Force Report
The report concludes that PCOS is mainly a condition of excess male hormones and its definition may change as new information is discovered.
research Vitamin D and Human Health: Lessons from Vitamin D Receptor Null Mice
Mice without the vitamin D receptor have bone issues and other health problems, suggesting vitamin D is important for preventing various diseases in humans.
research Consensus on Women's Health Aspects of Polycystic Ovary Syndrome: The Amsterdam ESHRE/ASRM-Sponsored 3rd PCOS Consensus Workshop Group
Experts agree that PCOS affects women's health in complex ways, but more research is needed to understand and treat it effectively.
research A Comprehensive Review on Metabolic Syndrome
Managing metabolic syndrome needs both lifestyle changes and medical treatments.
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 Developmental Origin of Polycystic Ovary Syndrome: A Hypothesis
The hypothesis suggests that PCOS may start early in life due to genetic and environmental factors, influencing future reproductive and metabolic problems.
research Epidemiology, Diagnosis, and Management of Hirsutism: A Consensus Statement by the Androgen Excess and Polycystic Ovary Syndrome Society
Experts recommend using evidence-based methods to diagnose and treat hirsutism, focusing on symptoms and underlying causes.
research Evidence-Based and Potential Benefits of Metformin in Polycystic Ovary Syndrome: A Comprehensive Review
Metformin helps with menstrual cycles and insulin levels in PCOS but is less effective for hair growth, diabetes prevention, and weight loss, and may improve fertility and reduce diabetes risk.
research Large-Scale Genome-Wide Meta-Analysis of Polycystic Ovary Syndrome Suggests Shared Genetic Architecture for Different Diagnosis Criteria
The research found that PCOS has common genetic factors regardless of how it is diagnosed and is linked to metabolic and reproductive issues.
research Weakly Supervised Learning of Biomedical Information Extraction from Curated Data
The method can effectively extract biomedical information without needing expert annotation, performing better than previous models.
research Cis-Element and Transcriptome-Based Screening of Root Hair-Specific Genes and Their Functional Characterization in Arabidopsis
Researchers found 19 genes important for root hair growth in a plant called Arabidopsis.
research Why Some Women Look Young for Their Age
Women look young for their age due to larger lips, less sun damage, and genes that prevent gray hair and wrinkles.
research The Effects of Estrogens on Linear Bone Growth
Oestrogens are key for bone growth during puberty in both boys and girls.
research The Transcriptional Repressor CDP (Cutl1) Is Essential for Epithelial Cell Differentiation of the Lung and the Hair Follicle
CDP is crucial for lung and hair follicle cell development.
research Congenital Adrenal Hyperplasia: Current Insights in Pathophysiology, Diagnostics, and Management
Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
research The Role of Tight Junctions in Skin Barrier Function and Dermal Absorption
Tight junctions are key for skin protection and controlling what gets absorbed or passes through the skin.
research Androgenetic Alopecia: A Review
Male pattern baldness involves genetics, hormones, and needs better treatments.
research WNT Signaling in Disease
The WNT signaling pathway is important in many diseases and targeting it could offer new treatments.
research Pathophysiological Mechanisms Implicated in Postpartum Depression
Postpartum depression is linked to changes in brain chemicals, inflammation, stress, and certain genes, and can potentially be identified by markers like specific steroids, serotonin levels, and vitamin D levels.
research Obesity and the Skin
Obesity is linked to various skin problems and may increase the risk of skin cancer.
research What’s Sex Got to Do With COVID-19? Gender-Based Differences in the Host Immune Response to Coronaviruses
Men generally have more severe COVID-19 cases and higher death rates than women due to biological differences.