research Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
New genetic variants linked to albinism were found in Pakistani families.
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570-600 / 1000+ resultsresearch Tackling Adverse Effects
research Forensic approach in cases of anabolic-androgenic steroid abuse and cardiovascular mortality: insights from autopsy, histopathology, immunohistochemistry and toxicology
Anabolic-androgenic steroid abuse can cause heart damage and sudden death.
research Dermatologic care of patients with differences of sex development
Dermatologists are crucial in providing personalized care for patients with sex development differences.
research Case Report of Wound Treatment with Hyiodine Gel in an Occasional KID Syndrome Patient
Surgical debridement and targeted therapies can effectively heal chronic wounds in KID syndrome.
research Polycystic ovary syndrome (PCOS), an inflammatory, systemic, lifestyle endocrinopathy
PCOS is a complex condition in women that can lead to health issues, and lifestyle changes are the best management approach.
research Myotonic Dystrophy—A Progeroid Disease?
Myotonic dystrophy may be classified as a segmental progeroid disorder.
research Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
research Disruption of the temporally regulated cloaca endodermal β-catenin signaling causes anorectal malformations
Disrupting β-catenin signaling in certain cells causes anorectal malformations.
research Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity
Patients with RASopathies are at risk for autoimmune disorders and should be routinely screened.
research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research The Fraser Complex Proteins (Frem1, Frem2, and Fras1) Can Form Anchoring Cords in the Absence of AMACO at the Dermal–Epidermal Junction of Mouse Skin
Certain skin proteins can form anchoring structures without the protein AMACO.
research Forehead Anthropometrics of Jazan Population, Saudi Arabia: A Prospective Analytical Study
Males in Jazan generally have larger foreheads than females, except in width.
research An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves
A genetic variant in "Blonde d'Aquitaine" calves causes death at birth due to a missing protein.
research When Rare Meets Risky: Clouston Syndrome with Cutaneous Squamous Cell Carcinoma
Clouston syndrome can lead to skin cancer, so monitoring is crucial.
research Exploring Hirsutism: Epidemiology, Associated Endocrinal Abnormalities, and Societal Challenges in GCC—A Narrative Review
Hirsutism in GCC countries is influenced by genetics, obesity, and lifestyle, with cultural stigma delaying treatment, highlighting the need for tailored health strategies.
research Pelvic ultrasound and color Doppler findings in different isosexual precocities
Ultrasound and color Doppler can help diagnose and decide treatment for early puberty in young girls.
research A Scarless Healing Tale: Comparing Homeostasis and Wound Healing of Oral Mucosa With Skin and Oesophagus
Oral mucosa heals with minimal scarring, offering insights for scarless wound healing.
research Keratin intermediate filaments in the colon: guardians of epithelial homeostasis
Keratin proteins are essential for keeping the cells in the human colon healthy and stable.
research Polycystic ovary syndrome and its management: In view of oxidative stress
Lifestyle changes, exercise, and antioxidants can help manage polycystic ovary syndrome.
research Loss of Msx2 Function Down-Regulates the FoxE3 Expression and Results in Anterior Segment Dysgenesis Resembling Peters Anomaly
Loss of Msx2 function causes eye development issues similar to Peters anomaly.
research Update on the therapeutic role of metformin in the management of polycystic ovary syndrome: Effects on pathophysiologic process and fertility outcomes
Metformin helps manage PCOS by improving fertility and is safe for pregnancy, especially when combined with certain treatments.
research Towards the Development of AgoKirs: New Pharmacological Activators to Study Kir2.x Channel and Target Cardiac Disease
New compounds may help treat heart disease by activating specific potassium channels.
research Skin and Scalp Health Benefits of a Specific Botanical Extract Blend: Results from a Double-Blind Placebo-Controlled Study in Urban Outdoor Workers
A botanical extract blend improved skin and scalp health in women working outdoors.
research Immortality Reconsidered: Clinical Challenges at the Frontier of Plastic Surgery
Advancements in regenerative science and longevity research can improve healthspans, but must be balanced with ethics and safety.
research Protein Immobilization on Bacterial Cellulose for Biomedical Application
Bacterial cellulose is a promising material for biomedical uses but needs improvements in antimicrobial properties and degradation rate.
research Drug Repurposing for Rare Diseases
Drug repurposing offers a faster, cheaper way to find treatments for rare diseases.
research Dupilumab in Inflammatory Skin Diseases: A Systematic Review
Dupilumab effectively treats various inflammatory skin diseases beyond its initial use for atopic dermatitis.
research Progenitor Cell Dysfunctions Underlie Some Diabetic Complications
Diabetes causes lasting cell dysfunctions, leading to serious complications even after blood sugar is controlled.
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.