research The Clinical Spectrum of Parathyroid Disease
The document concludes that parathyroid diseases have a range of clinical features and outcomes, with some conditions being treatable and others having a high risk of mortality.
Search
for
Sort by
Research
900-930 / 1000+ results 
research Role of 5α-Reductase in Health and Disease
5α-reductase is essential for male sexual development and its inhibitors have potential in treating various conditions related to hormone action.
research Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth, and Defects of Bone Marrow and Integument
Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
research Genome-Wide Association Study in Japanese Females Identifies Fifteen Novel Skin-Related Trait Associations
Researchers found 15 new genetic links to skin traits in Japanese women.
research De Novo Single-Nucleotide and Copy Number Variation in Discordant Monozygotic Twins Reveals Disease-Related Genes
The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
research No Evidence for THAP1/DYT6 Variants as Disease Modifiers in DYT1 Dystonia
THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
research Tackling Underrepresentation to Aid Understanding of Parkinson’s Disease: Progress and Further Opportunities
Addressing underrepresentation in Parkinson's research is crucial for better treatments and understanding.
research A Spontaneous Deletion Within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype
A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
research A Conditional Multi-Trait Sequence GWAS Discovers Pleiotropic Candidate Genes and Variants for Sheep Wool, Skin Wrinkle, and Breech Cover Traits
Researchers found genes and genetic variants linked to sheep wool and skin wrinkles.
research Adult Onset Still Disease: A Case Study
High-dose corticosteroid treatment helped improve symptoms in a patient with Adult Onset Still Disease.
research Alopecia Areata: A Multifactorial Autoimmune Condition
Alopecia areata is an autoimmune disease causing patchy hair loss, often with other autoimmune disorders, but its exact causes are unknown.
research Polycystic Ovary Syndrome and Its Impact on Health
PCOS affects women's health by increasing the risk of diabetes, heart disease, and reproductive issues.
research Alopecia Areata: An Autoimmune Disease of Multiple Players
Alopecia areata is an incurable autoimmune condition causing hair loss, with research aiming for better treatments.
research Immunology of Alopecia Areata
Alopecia areata, a type of hair loss, is likely an autoimmune disease with a genetic link, but its exact cause is still unknown.
research The Pathogenesis of Alopecia Areata in Rodent Models
Alopecia Areata is an autoimmune disease affecting hair follicles, influenced by genetic and environmental factors, with rodent models being essential for research.
research Hidradenitis Suppurativa: A Folliculotropic Disease of Innate Immune Barrier Dysfunction?
Hidradenitis suppurativa is a skin disease caused by the breakdown of the skin's natural immune barriers, especially around hair follicles.
research Lean Women with Polycystic Ovary Syndrome
PCOS in lean women is a serious health condition with implications beyond fertility, affecting metabolism and increasing cardiovascular disease risk.
research Enhancing Diagnostic Yield of Monogenic Diabetes Through Phenotypic and Molecular Reanalysis of 128 Individuals With Young Onset Hyperglycemia: Highlighting the Significance of Accurate Case Characterization
Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
research Stem Cell-Derived Motor Neurons from Spinal and Bulbar Muscular Atrophy Patients
The study suggests that motor neurons created from stem cells of patients with spinal and bulbar muscular atrophy show signs of the disease, including changes in protein levels and cell functions.
research Spinal and Bulbar Muscular Atrophy: Pathogenesis and Clinical Management
Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.
research Does a Male Polycystic Ovarian Syndrome Equivalent Exist?
Early onset baldness in men may indicate a condition similar to PCOS, linked to heart disease, diabetes, and prostate issues.
research The Twisting Tale of Woolly Hair: A Trait with Many Causes
New genes linked to woolly hair have been found, which could help treat it and change hair texture.
research Case 2-2022: An Adolescent Male in Cardiac Arrest 3 Days After Liver Transplantation for End-Stage Liver Disease
The patient recovered well and returned to college without any lasting issues.
research Alopecia Areata: Burden of Disease, Approach to Treatment, and Current Unmet Needs
Current treatments for Alopecia Areata have mixed success, and there's a need for better, more accessible options and support for affected individuals.
research Monilethrix: Case Report of a Rare Disease
Monilethrix causes fragile, patchy hair loss.
research Serum Lipoprotein (a) as an Atherosclerosis Risk Factor in Men with Androgenic Alopecia
Men with male pattern baldness may have a higher risk of heart disease due to increased levels of a specific lipid in their blood.
research Androphenotypic Features in Patients with Coronary Artery Disease
Men with baldness, ear creases, and hairy ears have a higher risk of heart disease.
research Clinical Features of Familial Lewy Body Parkinsonism Caused by α-Synuclein Triplication (Iowa Kindred) with Video Documentation
The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
research Effects of Lifelong Testosterone Exposure on Health and Disease Using Mendelian Randomization
Higher testosterone levels can increase the risk of certain diseases like type 2 diabetes in women and prostate cancer in men, but can also protect against autoimmune diseases and hair loss. It also affects body fat and bone density.
research Why Were Sardinians the Shortest Europeans? A Journey Through Genes, Infections, Nutrition, and Sex
Sardinians were historically short due to a mix of genetics and factors like disease and poor nutrition, but recent height increases suggest better living conditions had a bigger impact.