research MendelVar: Gene Prioritization at GWAS Loci Using Phenotypic Enrichment of Mendelian Disease Genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
Search
for
Sort by
Research
30-60 / 76 results 
research Proceedings of the RAMI Intern Section Meeting, 18th January 2014
The meeting discussed medical findings, including benefits of certain treatments for cancer and heart conditions, and highlighted issues like poor adherence to preventive measures and skill gaps among interns.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research Case 1: Severe Acne – Not Just Skin Deep
Severe acne in a young girl may indicate underlying hormonal issues.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – Out of the Woods
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research New York Dermatological Society
The meeting highlighted the complexity and variability of skin conditions and differing opinions on their diagnoses and treatments.
research Achalasia And Hyperthyroidism: A Co-Occurrence Revealing Autoimmune Connections
Early diagnosis and treatment of achalasia and hyperthyroidism improve patient outcomes.
research Long-Term Effects of Chemotherapy in Children With Cancer
Chemotherapy in children often causes hair loss, nausea, vomiting, and mood swings.
research Uncombable Hair Syndrome and Beyond
Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
research Clinical and Molecular Genetic Studies in Hereditary Hair Loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research Hair Disorders
Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research Triptolide Shows Strong Efficacy and Safe Profile in Topical Treatment of Actinic Keratosis Lesions in UV-B-Induced Mouse Model
Triptolide effectively and safely reduces actinic keratosis lesions in mice.
research Influence of Bovine Milk Oligosaccharides on Sebocyte Lipid Content and Inflammatory Mediators
Cow milk sugars increase fat production and inflammation in skin oil cells.
research Syndactyly Type III and Hypotrichosis in Oculodentodigital Syndrome with GJA1 Mutation
A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
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 Hair Follicle Bulb Developed as 3D Scaffold-Free Microtissue
Scientists created a tiny, 3D model of a hair follicle that grows and acts like a real one.
research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
research Regulation of Hair Growth
The document concludes that treatments like oral anti-androgens, minoxidil, and topical spironolactone can be effective for hair loss in men and women.
research National Scientific Medical Meeting 1996 Abstracts
The document summarizes medical findings on topics like heart rhythm treatment, sleep apnea therapy, and various health conditions and treatments.
research Ionizing Radiation Triggers Dedifferentiation of Outer Root Sheath Cells Into Stem Cell-Like Progenitors for Hair Follicle Regeneration
research Surgical Correction of Cicatricial Entropion in Cattle: Two Cases
The Hotz-Celsus surgery successfully fixed inward-turning eyelids in cattle.
research A Syndrome of Congenital Ichthyosis, Mental Retardation, Myopathy, and Anemia in Dizygotic Twin Sisters
The twins' condition is unique and doesn't match any known syndromes.
research Toxic and Metabolic Disorders of the Nervous System
Certain vitamins in wrong amounts, alcohol abuse, metals, and other toxins can cause serious brain and nerve damage.
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 Pollen Allergies in Humans and Their Dogs, Cats, and Horses: Differences and Similarities
Humans and pets share similar allergy mechanisms, and studying pet allergies can help treat both human and animal allergies.
research Three Streams for the Mechanism of Hair Graying
Hair graying may be caused by stem cell depletion from stress or melanocyte damage.
research Association Between Interleukin 18 Polymorphisms and Alopecia Areata in Koreans
Certain genetic variations in IL18 may increase the risk of alopecia areata in Koreans.
research Synaptic-Like Vesicles and Candidate Transduction Channels in Mechanosensory Terminals
SLVs help maintain muscle stretch sensitivity and could aid in treating hypertension and muscle spasticity.
research Impact of Medical Castration on Malignant Arrhythmias in Patients With Prostate Cancer
Medical castration in prostate cancer patients can increase the risk of serious heart rhythm problems, so it's important to monitor heart activity during treatment.