research Autoimmune Polyendocrine Syndrome Type 1: An Italian Survey on 158 Patients
APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
Search
for
Sort by
Research
30-60 / 1000+ results 
research Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies
Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.
research Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
research The 5 Alpha-Reductase Isozyme Family: A Review of Basic Biology and Their Role in Human Diseases
The document concludes that the 5 alpha-reductase enzymes are important in steroid metabolism and related to various human diseases, with inhibitors used to treat conditions like male pattern baldness and prostate issues.
research Congenital Adrenal Hyperplasia: Current Insights in Pathophysiology, Diagnostics, and Management
Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
research Structural Abnormalities of the Hair Shaft
The document concludes that understanding hair structure is key to diagnosing hair abnormalities and recommends gentle hair care for management.
research Steroid 5α-Reductase as a Novel Therapeutic Target for Schizophrenia and Other Neuropsychiatric Disorders
S5αR inhibitors might help treat schizophrenia and other mental disorders but need more research.
research Dermatoscopy of Hair Shaft Disorders
Dermatoscopy is a useful tool for diagnosing hair disorders and can help choose samples for more detailed analysis.
research Non-Edg Family LPA Receptors: The Cutting Edge of LPA Research
New LPA receptors (LPA4, LPA5, LPA6) have diverse roles in the body.
research Lamins in Development, Tissue Maintenance, and Stress
Lamins are vital for cell survival, organ development, and preventing premature aging.
research The Genetics of Hair Shaft Disorders
The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
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 How to Diagnose a Lipodystrophy Syndrome
The document concludes that recognizing and properly diagnosing lipodystrophy syndromes is crucial for effective management and treatment.
research The Pharmacology of Regenerative Medicine
Regenerative pharmacology, which combines drugs with regenerative medicine, shows promise for repairing damaged body parts and needs more interdisciplinary research.
research Kin-Cohort Analysis of LRRK2-G2019S Penetrance in Parkinson's Disease
The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
research 5α-Reduced Glucocorticoids: A Story of Natural Selection
Natural 5α-reduced glucocorticoids might be anti-inflammatory with fewer side effects than current options.
research A Preliminary Study of Finasteride in Tourette Syndrome
Finasteride reduces Tourette syndrome symptoms, but results may be limited due to potential biases.
research Diagnostic Criteria for Polycystic Ovarian Syndrome
To diagnose Polycystic Ovarian Syndrome, two out of three signs—irregular periods, high male hormone levels, or cysts on the ovaries—are needed.
research Hutchinson-Gilford Progeria Syndrome: Current Status and Prospects for Gene Therapy Treatment
Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
research Desferrioxamine Treatment of Aceruloplasminemia: Long-Term Follow-Up
Finasteride may help reduce symptoms in male Tourette syndrome patients.
research Adrenal Disorders and the Pediatric Brain: Pathophysiological Considerations and Clinical Implications
Adrenal disorders can cause lasting brain and behavior issues in children.
research Madarosis: A Marker of Many Maladies
Losing eyelashes or eyebrows can be a sign of many different health problems and needs a careful approach to treat effectively.
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 Hair Loss in Children
Most hair loss in children is caused by a few common conditions, and it's important to diagnose these properly and support the child's mental health.
research Friends Turned Foes: Angiogenic Growth Factors Beyond Angiogenesis
Some growth factors, while important for normal body functions, can cause diseases when not regulated properly.
research Eyelash Trichomegaly: Review of Congenital, Acquired, and Drug-Associated Etiologies for Elongation of the Eyelashes
The document concludes that eyelash trichomegaly, which is the abnormal growth of eyelashes, can be present from birth, caused by diseases, or result from certain medications.
research Nutrition and the Deleterious Side Effects of Nutritional Supplements
Taking too many vitamin and mineral supplements can cause serious health problems.
research Pathological Findings in a Case of Stiff Person Syndrome with Anti-GAD Antibodies
Finasteride significantly reduced tics and obsessive-compulsive symptoms in patients with Tourette syndrome.
research Radiation-Induced Alopecia
A man experienced hair loss from radiotherapy, which can be temporary or permanent depending on radiation dose, with potential treatments available.
research Forensics in Dermatology: Part II
Dermatologists play a key role in identifying and documenting signs of abuse and injury for forensic investigations.