research The Glucocorticoid Resistance Syndrome: Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
A new gene variant causes glucocorticoid resistance in a mother and son.
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research Dysregulation of the Immune System in a Natural History Study of 1299 Individuals with Down Syndrome
People with Down syndrome have higher rates of certain immune-related conditions and need special medical attention.
research Medical Care for Children and Adolescents with Gender Dysphoria and Gender Inconsistency in Light of Current Recommendations: How to Implement the 'Primum Non Nocere' Principle?
The safety and effectiveness of gender-affirming treatments for children are uncertain, with potential long-term risks like infertility.
research Acrodermatitis Enteropathica – Diagnostic Challenges
Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
research Clinical Cases of Darier-White Follicular Dyskeratosis
Darier-White disease causes skin and nail issues, starts around age 20, worsens until 40-50, and has poor treatment options.
research A Rare Cause of Irrevocable Childhood Alopecia Feigning Alopecia Universalis: Atrichia Congenita With Papular Lesions
An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
research Increased Expression of TSPEAR in Colorectal Cancer Predicts Poor Prognosis
High TSPEAR levels in colorectal cancer predict worse outcomes.
research Increased Expression of TSPEAR in Colorectal Cancer Predicts Poor Prognosis
High TSPEAR levels in colorectal cancer predict worse outcomes.
research Alymphoid Cystic Thymic Dysgenesis - FOXN1 Gene Mutation: A Rare Case Report of Two Siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
research Index
The document is a detailed guide on skin conditions and treatments for dermatologists.
research Screening and Identification of LncRNAs Related to Villus Growth of Liaoning Cashmere Goats and Their Effects on Growth After FGF5 Treatment
Certain long non-coding RNAs in cashmere goats affect hair growth when treated with a specific growth factor.
research WNT10B (Wingless-Type MMTV Integration Site Family): Role in Biological Processes and Diseases
WNT10B is linked to cancer development and affects survival and disease progression in various cancers.
research Study of Skin Expression of MicroRNA-146a in Patients with Alopecia Areata
Higher levels of miR-203 may contribute to hair loss in alopecia areata.
research References
research The First Visit: Consultation and Workup Before Sperm Banking
A thorough initial check-up is essential before sperm banking to ensure the best chance of preserving good quality sperm.
research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
research Genetics
Certain gene mutations can weaken the skin barrier and, when combined with environmental factors, lead to eczema and severe itching.
research DNA Damage, Checkpoint Responses, and Cell Cycle Control in Aging Stem Cells
Maintaining DNA integrity in stem cells is crucial to prevent aging and cancer.
research Transcription Factor FOXC1 Positively Regulates SFRP1 Expression in Androgenetic Alopecia
FOXC1 boosts SFRP1 in hair loss, suggesting new treatments.
research Molecular Regulation and Cellular Heterogeneity in Skin Repair and Hair Follicle Regeneration
Ovol2 is crucial for hair growth and skin healing by controlling cell movement and growth.
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 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 Epidermal Homeostasis: A Balancing Act of Stem Cells in the Skin
Skin stem cells are crucial for maintaining and repairing the skin and hair, using a complex mix of signals to do so.
research Polycystic Ovary Syndrome: Etiology, Pathogenesis, and Diagnosis
The document concludes that PCOS is a complex disorder caused by both genetic and environmental factors, affecting women's health in various ways, and requires personalized treatment.
research Comprehensive Overview of Polycystic Ovary Syndrome
Polycystic Ovary Syndrome (PCOS) is a common condition in women that can cause metabolic, reproductive, and psychological issues, and requires lifestyle changes and medication for management.
research Endocrine Treatment of Transsexual Persons: An Endocrine Society Clinical Practice Guideline
The guideline recommends mental health involvement in diagnosing gender identity disorder and outlines hormone and surgical treatment protocols, emphasizing safety, informed consent, and long-term monitoring.
research Lgr5 Marks Cycling, Yet Long-Lived, Hair Follicle Stem Cells
Lgr5 is a marker for active, long-lasting stem cells in mouse hair follicles.
research Use of Chemotherapy During Human Pregnancy
Chemotherapy in the first trimester of pregnancy is risky, but in the second and third trimesters, it's generally safe with careful drug selection and timing.