research A Kindred With Mutant IKAROS and Autoimmunity
A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
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research Vitamin D and Human Health: Lessons from Vitamin D Receptor Null Mice
Mice without the vitamin D receptor have bone issues and other health problems, suggesting vitamin D is important for preventing various diseases in humans.
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 Functional Analysis of VDR Gene Mutation R343H in a Child with Vitamin D-Resistant Rickets with Alopecia
The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
research Anatomy of the Ageing Face
The document concludes that understanding the anatomical changes of the ageing face is important for effective rejuvenation treatments.
research Alleviation of Multidrug Resistance by Flavonoid and Non-Flavonoid Compounds in Breast, Lung, Colorectal, and Prostate Cancer
Some natural compounds may help overcome drug resistance in certain cancers, but more research is needed.
research Hydrogel Composites for Multifunctional Biomedical Applications
Hydrogel composites have great potential in regenerative medicine, tissue engineering, and drug delivery.
research Frontotemporal Dementia with Parkinsonism Presenting as Posterior Cortical Atrophy
A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
research Microenvironmental Reprogramming by Three-Dimensional Culture Enables Dermal Papilla Cells to Induce De Novo Human Hair-Follicle Growth
Growing human skin cells in a 3D environment can stimulate new hair growth.
research Molecular Genetics of Keratinization Disorders: What's New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Mutation in 5′ Upstream Region of GCHI Gene Causes Familial Dopa-Responsive Dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research Histological and Gene Expression Analysis of the Effects of Menopause Status and Hormone Therapy on the Vaginal Introitus and Labia Majora
Menopause causes significant changes in the vaginal introitus, but less so in the labia majora, which may lead to symptoms of vaginal atrophy.
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 Antiviral Drugs Prolong Survival in Murine Recessive Dystrophic Epidermolysis Bullosa
Antiviral drugs, especially daclatasvir, may be a new treatment for a rare skin disease, improving survival and reducing symptoms in mice.
research Scarring Alopecias: Pathology and an Update on Digital Developments
New digital tools are improving the diagnosis and understanding of irreversible hair loss conditions.
research Exercise in the Management of Polycystic Ovary Syndrome: A Position Statement from Exercise and Sports Science Australia
Exercise is crucial for managing polycystic ovary syndrome (PCOS) and improving overall health.
research Non-Invasive Human Skin Transcriptome Analysis Using mRNA in Skin Surface Lipids
The conclusion is that analyzing RNA from skin oils is a promising way to understand skin diseases.
research Chrousos Syndrome: From Molecular Pathogenesis to Therapeutic Management
The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
research XEDAR Activates the Non-Canonical NF-κB Pathway
XEDAR triggers a specific signaling pathway in cells.
research Oral Presentations: Findings from Dermatological Studies
The document concludes that an experimental drug may help wound healing in Epidermolysis Bullosa, links Hydroa vacciniforme to EBV, discusses diagnosing hair loss disorders, finds many children with eczema have allergies, reviews the safety of a skin medication in children, notes side effects of a Duchenne's treatment, and identifies a marker for pediatric mastocytosis.
research A Preliminary Study of Finasteride in Tourette Syndrome
Finasteride reduces Tourette syndrome symptoms, but results may be limited due to potential biases.
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 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 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 Ability to Cycle Despite Severe Freezing of Gait in Atypical Parkinsonism in Fahr's Syndrome
Finasteride significantly reduced tics and obsessive-compulsive symptoms in Tourette syndrome patients.
research Encephalitis Lethargica Due to Epstein–Barr Virus Infection
Finasteride may help reduce tic severity in male Tourette syndrome patients.
research Desferrioxamine Treatment of Aceruloplasminemia: Long-Term Follow-Up
Finasteride may help reduce symptoms in male Tourette syndrome patients.
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 Management of Pilonidal Sinus Disease with Lyopreserved Umbilical Tissue Allograft Placement: A Case Series
Using lyopreserved umbilical tissue allograft may improve healing and reduce recurrence of pilonidal cysts.
research Evidence for Multiple, Developmentally Regulated Isoforms of Ptprq on Hair Cells of the Inner Ear
Ptprq has multiple forms that change during inner ear development.