research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
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690-720 / 1000+ resultsresearch Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research Cellular Senescence and Aging in Myotonic Dystrophy
Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
research Novel Application of Light-Emitting Diode Therapy in the Treatment of Eyebrow Loss in Frontal Fibrosing Alopecia
LED therapy can safely and effectively regrow eyebrows in people with frontal fibrosing alopecia.
research Seborrheic Dermatitis Revisited: Pathophysiology, Diagnosis, and Emerging Therapies—A Narrative Review
New treatments for seborrheic dermatitis show promise for difficult cases.
research The Use of Imaging Techniques in the Diagnosis of Dermatoses of the Scalp
Non-invasive imaging techniques improve scalp condition diagnosis and patient quality of life.
research Successfully Nonsurgical Epidermoid Cyst Management with Recombinant Hydrolytic Enzymes: A Case Report
Enzyme injections can effectively treat epidermoid cysts without surgery.
research Critical Factors in Sample Collection and Preparation for Clinical Metabolomics of Underexplored Biological Specimens
Standardized procedures are crucial for collecting and preparing biological samples to ensure accurate clinical metabolomics results.
research Measures of Adult Systemic Lupus Erythematosus: Disease Activity and Damage
Choosing the right tools is crucial for accurately measuring lupus activity and damage.
research Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
research Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
Different gene mutations cause different types of ichthyosis, with some new mutations found.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
research Data-Driven Machine-Learning Methods for Diabetes Risk Prediction
Machine learning can effectively predict type 2 diabetes risk.
research Advanced Intelligent Systems for Surgical Robotics
Surgical robots have improved but still can't perform tasks or make decisions on their own.
research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Advancements and challenges in stem cell transplantation for regenerative medicine
Stem cell transplantation shows promise for treating diseases but faces challenges like safety, ethics, and cost.
research Frontiers in alopecia areata pathobiology research
The review suggests that other immune cells besides CD8+ T cells may contribute to alopecia areata and that targeting regulatory cell defects could improve treatment.
research Progress in studies of epidermal stem cells and their application in skin tissue engineering
Epidermal stem cells show promise for skin repair and regeneration.
research Expression of truncated latent TGF-β-binding protein modulates TGF-β signaling
Truncated LTBP-1 disrupts TGF-β signaling, affecting hair growth.
research Role of Phenylalanine and Its Metabolites in Health and Neurological Disorders
Phenylalanine may help with depression but can cause issues if not properly processed.
research Pain in Multiple Sclerosis: Understanding Pathophysiology, Diagnosis, and Management Through Clinical Vignettes
Effective pain management in multiple sclerosis requires individualized treatment strategies.
research Sarcoidosis: Are there differences in your skin of color patients?
Sarcoidosis is more common and severe in Black patients than in Caucasians, requiring early diagnosis and treatment.
research The role of platelet-rich plasma in biomedicine: A comprehensive overview
PRP helps tissue repair but lacks standard preparation methods.
research Poster Presentations
Ustekinumab successfully treated a man's resistant skin condition when other treatments failed.
research Current Biomedical Applications of 3D-Printed Hydrogels
3D-printed hydrogels show promise in medicine but face challenges in resolution, cell viability, cost, and regulations.
research Feasibility of repairing full-thickness skin defects by iPSC-derived epithelial stem cells seeded on a human acellular amniotic membrane
iPSC-derived stem cells on a special membrane can help repair full-thickness skin defects.
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 Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research Overview of Caffeine Effects on Human Health and Emerging Delivery Strategies
Caffeine can boost health but may cause side effects like high blood pressure and migraines.