research Characterization of Novel TMEM173 Mutation with Additive IFIH1 Risk Allele
A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
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60-90 / 136 results research Fibroblasts: Origins, Definitions, and Functions in Health and Disease
Fibroblasts are crucial for tissue repair and inflammation, and understanding them can help treat fibrotic diseases.
research The Eye and the Skin in Endocrine Metabolic Diseases
Diabetes can lead to blindness and skin problems, and managing blood sugar and blood pressure is crucial to prevent these complications.
research Ingestion of Topical Steroid Triggering Pustular Psoriasis?
Accidentally eating a topical steroid may rarely cause acute generalized pustular psoriasis.
research Vitamin D and the Skin
research Syndromes of Severe Insulin Resistance
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
research Comparison of Prevalence of Periodontal Disease in Women with Polycystic Ovary Syndrome and Healthy Controls
Women with PCOS may be more likely to have gum disease than healthy women.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
research Severe Impact of Late Diagnosis of Congenital Adrenal Hyperplasia on Gender Identity, Sexual Orientation, and Function: Case Report and Review of the Literature
Late diagnosis of congenital adrenal hyperplasia can greatly affect physical development, gender identity, and sexual health.
research An Overview of Management of Drug-Induced Hair and Nail Disorders
Cooling the scalp may prevent hair loss from chemotherapy, hair often grows back after treatment, and nail issues usually improve after stopping the drug.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research Transplantation Immunology: Solid Organ and Bone Marrow
Transplant success has improved with better immunosuppressive drugs and donor matching.
research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
research Esrp1-Regulated Splicing of Arhgef11 Isoforms Is Required for Epithelial Tight Junction Integrity
The study concluded that specific proteins are necessary to maintain the structure that holds epithelial cells tightly together.
research Safety of Common Medications for Treating Dermatology Disorders in Pregnant Women
Some skin medications are safe for pregnant women, but others pose risks or should not be used.
research Rabson-Mendenhall Syndrome: Two Case Reports and a Brief Review of the Literature
The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
research A Mouse Model for the Basal Transcription and DNA Repair Syndrome Trichothiodystrophy
Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
research Uterine Transplantation in Transgender Women
Uterine transplants for transgender women are feasible but need more research.
research Skin Signs Due to Starvation
Skin changes can indicate starvation and nutritional deficiencies in anorexia nervosa.
research Ionizing Radiation Triggers Dedifferentiation of Outer Root Sheath Cells Into Stem Cell-Like Progenitors for Hair Follicle Regeneration
research Molecular Network of Smads and Id2 Genes in Hair Follicle Stem Cells Regulation
The BMP/Smads pathway and Id2 gene control hair follicle stem cells, affecting their rest and growth phases.
research Burn Reconstruction: The Problems, Techniques, and Applications
Burn reconstruction improves with new techniques, materials, and tissue engineering.
research Azathioprine
Azathioprine's effectiveness and safety require careful monitoring and more research, especially regarding its use with corticosteroids and the role of TPMT status in patients.
research The Role of P-Cadherin in Skin Biology and Pathology: Lessons from the Hair Follicle
P-cadherin is important for hair growth and health, and its problems can cause hair and skin disorders.
research Cyclosporine A-Induced Intracranial Thrombotic Complications: Systematic Review and Case Report
Cyclosporine-A can cause serious blood clots in the brain, so patients need careful monitoring.
research Plastic Surgery: Indications, Operations, and Outcomes
The document covers all aspects of plastic and reconstructive surgery, from basic techniques to specific procedures for various body parts.
research Gene-Knockout Mice With Abnormal Epidermal and Hair Follicular Development
Knocking out certain genes in mice helps understand skin and hair growth problems.
research Polyglandular Syndrome Type 1 Complicated with Dilated Cardiomyopathy: A Case Report
A 27-year-old with APS-1 showed improvement in symptoms after treatment.
research Acromegaloidism With Normal Growth Hormone Secretion Associated With X-Tetrasomy
A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
research Topical Absorption and Systemic Toxicity
Some chemicals absorbed through the skin can cause serious health problems.