research Targets to Treat Androgen Excess in Polycystic Ovary Syndrome
The conclusion is that while oral contraceptive pills are effective for PCOS-related high androgen levels, new treatments with fewer side effects are needed.
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research Ppp2r2a Knockout Mice Reveal That Protein Phosphatase 2A Regulatory Subunit, PP2A-B55α, Is an Essential Regulator of Neuronal and Epidermal Embryonic Development
The PP2A-B55α protein is essential for brain and skin development in embryos.
research The Possible Implication of the S250C Variant of the Autoimmune Regulator Protein in a Patient with Autoimmunity and Immunodeficiency: In Silico Analysis Suggests a Molecular Pathogenic Mechanism for the Variant
The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
research A Scandinavian Case of Skin Fragility, Alopecia, and Cardiomyopathy Caused by DSP Mutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research Connexin 26 (GJB2) Mutations in Keratitis–Ichthyosis–Deafness Syndrome Presenting with Squamous Cell Carcinoma
Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
research An In Vivo Method for the Detection of Somatic Mutations at the Cellular Level in Mice
A new method can detect mutations in mice by observing changes in hair follicle cells.
research Experimental Cutaneous Bacillus Anthracis Infections in Hairless HRS/J Mice
Hairless HRS/J mice resist Bacillus anthracis skin infections due to high numbers of immune cells, not because they lack hair follicles.
research Plasma Levels of C19 Steroid Glucuronides in Pre-Menopausal Women with Non-Classical Congenital Adrenal Hyperplasia
Women with non-classical congenital adrenal hyperplasia have higher levels of certain steroids, which can be reduced by treatment.
research Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome: A Clinical Spectrum Due to SREBF1 Variants
A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
research Hair Shaft Structures in EDAR Induced Ectodermal Dysplasia
The EDAR gene mutation leads to thinner and more deformed hair shafts.
research Isolation and Characterization of Cutaneous Epithelial Stem Cells
Scientists found ways to identify and collect skin stem cells, which vary by skin area and are delicate.
research Skin Manifestations of Bardet-Biedl Syndrome
Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
research Kartogenin Regulates Hair Growth and Hair Cycling Transition
Kartogenin may help treat hair loss by promoting hair growth and extending the hair growth phase.
research Hematopoietic Stem Cells: Nature and Niche Nurture
Blood stem cells are diverse, influenced by many factors, and understanding them is key for progress in regenerative medicine.
research Spontaneous Quick Resolution of Uncombable Hair Syndrome-Like Disease
A boy's hair that was frizzy and hard to comb returned to normal after 9 months, possibly due to genetic factors.
research Advances in Genetic and Molecular Understanding of Omenn Syndrome: Implications for the Future
Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
research Ovarian Hemangioma: A Rare Entity
Ovarian hemangioma is a rare, benign tumor that can be treated effectively with surgical removal.
research Histological Structure and Ultrastructure of Tianzhu White Yak Hair
Tianzhu white yak hair varies in structure and density between fuzz and coarse hair.
research Genotyping Of The Rs1800440 Polymorphism In CYP1B1 Gene And The Rs9258883 Polymorphism In HLA-B Gene In A Spanish Cohort Of 223 Patients With Frontal Fibrosing Alopecia
Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.
research Deficient Anterior Pituitary With Common Variable Immune Deficiency (David Syndrome): A New Case and Literature Reports
DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
research Abstracts From The 55th European Society Of Human Genetics Conference: E-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Spatio-Temporal Regulation of Gene Expression Defines Subpopulations of Epidermal Stem Cells
Different types of skin stem cells can change and adapt, which is important for developing new treatments.
research Diagnostic Challenge: Loose Anagen Hair Syndrome
The study concludes that Loose Anagen Hair Syndrome is a benign condition that usually improves with age but can be hard to diagnose and stressful for the family.
research Buschke-Ollendorff Syndrome: Clinical Features and Genetic Insights
Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
research Definition of Hyperandrogenism
The document suggests new ways to assess and diagnose hyperandrogenism to improve accuracy.
research Systematic Review: Interventions in Sickle Cell Disease-Related Priapism in Reducing Overall Morbidity, Recurrence, and Side Effects
More research is needed to find effective treatments for sickle cell disease-related priapism.
research A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
research Differences in Self-Reported Stress Versus Hair and Nail Cortisol Among Adolescent and Young Adult Males
Hair and nail cortisol levels can show long-term stress in young males.
research Research Progress of Post-Acute Sequelae After SARS-CoV-2 Infection
Long COVID causes various long-term health issues and needs better awareness and treatment.
research A Rare Manifestation of STING-Associated Vasculopathy with Onset in Infancy: A Case Report
Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.