research Skin, Genetic Defects, and Aging
Genetic defects and UV radiation cause skin damage and aging.
Search
for
Sort by
Research
60-90 / 193 results research Birt-Hogg-Dubé Syndrome: Genetic and Clinical Insights
Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
research Pulmonary Manifestations of Birt-Hogg-Dubé Syndrome
People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
research Folliculin Interacts With P0071 (Plakophilin-4) and Deficiency Is Associated With Disordered RhoA Signalling, Epithelial Polarization, and Cytokinesis
Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
research Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome
Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
research Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
research Late Diagnosis of Complete Androgen Insensitivity
A 31-year-old woman was diagnosed with Complete Androgen Insensitivity Syndrome much later than usual, leading to a call for earlier detection and treatment guidelines.
research Activating Wnt/β-Catenin Signaling Pathway for Disease Therapy: Challenges and Opportunities
Using drugs to activate the Wnt/β-catenin pathway has potential for treating diseases but also presents challenges.
research Order From Disorder: Self-Organization In Mammalian Hair Patterning
Hair patterns in mice are controlled by both a global system dependent on Fz6 and a local self-organizing system.
research Bimatoprost in the Treatment of Eyelash Hypotrichosis
Bimatoprost is effective for growing longer, thicker, and darker eyelashes.
research The Analysis of Genetics and Associated Autoimmune Diseases in Chinese Vitiligo Patients
Generalized vitiligo in Chinese patients is linked to other autoimmune diseases, especially in familial cases.
research Genetic Predictors of Testosterone and Their Associations with Cardiovascular Disease and Risk Factors: A Mendelian Randomization Investigation
Testosterone is linked to cardiovascular risk factors and stroke, but its exact role is unclear.
research Fertility Evaluation of Infertile Women: A Committee Opinion
The conclusion is that women under 35 should start fertility checks after 12 months of trying to conceive, women over 35 after 6 months, and women over 40 should start immediately. The checks should include ovulation status, reproductive tract structure, and male partner's semen evaluation.
research In Search of New Therapeutics: Molecular Aspects of the PCOS Pathophysiology - Genetics, Hormones, Metabolism and Beyond
New treatments are needed for PCOS that target its genetic, hormonal, and metabolic causes.
research Birt-Hogg-Dubé Syndrome: From Gene Discovery to Molecularly Targeted Therapies
New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
research Nonscarring Alopecia in Systemic Lupus Erythematosus: A Cross-Sectional Study with Trichoscopic, Histopathologic, and Immunopathologic Analyses
Hair loss in lupus patients indicates higher disease activity.
research Expression and Function of Group IIE Phospholipase A2 in Mouse Skin
sPLA2-IIE is crucial for normal hair follicle structure and skin health.
research Expanding Phenotype of Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis Caused by FAM111B Mutations: Report of an Additional Family Raising the Question of Cancer Predisposition and a Short Review of Early-Onset Poikiloderma
The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
research Generation of Skin Organoids: Potential Opportunities and Challenges
Skin organoids from stem cells could better mimic real skin but face challenges.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research Co-Presentation of Tapia's Syndrome and Pressure Alopecia—A Rare Event After Septorhinoplasty: A Case Report and Literature Review
A man developed rare complications after nose surgery, stressing the need for better prevention.
research Cutaneous Immunopathology of Androgenetic Alopecia
research Persistent Sexual Dysfunction and Depression in Finasteride Users for Male Pattern Hair Loss: A Serious Concern or Red Herring?
Finasteride, a hair loss drug, may cause sexual dysfunction and depression, but these effects are usually temporary and the drug is generally safe. More research is needed.
research PI3K-Akt-mTOR and Associated Signaling Pathways as Molecular Drivers of Immune-Mediated Inflammatory Skin Diseases: Update on Therapeutic Strategy Using Natural and Synthetic Compounds
Certain natural and synthetic compounds may help treat inflammatory skin diseases by targeting a specific signaling pathway.
research New Case of Trichorhinophalangeal Syndrome-Like Phenotype with a De Novo t(2;8)(p16.1;q23.3) Translocation Which Does Not Disrupt the TRPS1 Gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research A Novel Follicular Unit Excision Device for All-Purpose Hair Graft Harvesting
The new hair graft device is faster, more efficient, and reduces damage to hair follicles.
research QR678 and QR678 Neo Hair Growth Formulations: A Cellular Toxicity and Animal Efficacy Study
QR 678 and QR 678 Neo are safe and promote hair growth, potentially helping chemotherapy-induced hair loss.
research Quercetin and Polycystic Ovary Syndrome
Quercetin may help improve symptoms of polycystic ovary syndrome.
research The Need for Speed and Efficiency: A Brief Review of Small Molecule Antivirals for COVID-19
Some small molecule antivirals show promise against COVID-19, but more research is needed to understand and improve them.
research Highly Efficient Neural Differentiation of CD34-Positive Hair-Follicle-Associated Pluripotent Stem Cells Induced by Retinoic Acid and Serum-Free Medium
Hair follicle stem cells can become nerve cells using specific treatments.