research STUB1 Mutations in Autosomal Recessive Ataxias – Evidence for Mutation-Specific Clinical Heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
Search
for
Sort by
Research
630-660 / 1000+ resultsresearch Hypogonadism as a Reversible Cause of Torsades de Pointes in Men
Low testosterone can cause a heart rhythm problem in men, but fixing it can prevent the issue.
research Role of Janus Kinase Inhibitors in the Treatment of Alopecia Areata
Janus kinase inhibitors show promise in treating alopecia areata but need better topical formulations.
research Hidradenitis Suppurativa as a Potential Subtype of Autoinflammatory Keratinization Disease
Hidradenitis suppurativa might be a type of autoinflammatory skin disease.
research Frontal Fibrosing Alopecia: An Update on the Hypothesis of Pathogenesis and Treatment
The document concluded that more research is needed to find the best treatment for Frontal fibrosing alopecia.
research Genetic Hair Disorders: A Review
The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
research Genetic and Molecular Aspects of Androgenetic Alopecia
Androgenetic alopecia is mainly caused by genetic factors and increased androgen activity, leading to hair follicle miniaturization.
research Expanding on the Phenotypic Spectrum of Woodhouse-Sakati Syndrome Due to Founder Pathogenic Variant in DCAF17: Report of 58 Additional Patients from Qatar and Literature Review
Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.
research Suppression of FGF5 and FGF18 Expression by Cholesterol-Modified siRNAs Promotes Hair Growth in Mice
Cholesterol-modified siRNAs targeting certain genes increased hair growth in mice.
research CDH3 Gene Related Hypotrichosis and Juvenile Macular Dystrophy: A Case with a Novel Mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research Bupropion for the Treatment of Fluoxetine Non-Responsive Trichotillomania: A Case Report
Bupropion may help treat trichotillomania when fluoxetine doesn't work.
research Polycystic Ovary Syndrome: Diagnosis, Symptoms, and Management
PCOS is a condition causing irregular periods, excess male hormones, and infertility, often managed by targeting insulin resistance and specific symptoms.
research Targeting the Undifferentiated State of Cancer
Less differentiated melanoma cells are more vulnerable to a type of cell death, which could improve cancer treatments.
research A Case of Frontal Fibrosing Alopecia in a Patient with Primary Biliary Cirrhosis and Polymyalgia Rheumatica
Frontal fibrosing alopecia might be linked to autoimmune diseases.
research Renal Tubular Dysfunction Presenting as Recurrent Hypokalemic Periodic Quadriparesis in Systemic Lupus Erythematosus
A woman with lupus had muscle weakness due to kidney issues and was successfully treated with medication.
research Incidental Syringomas of the Scalp in a Patient with Scarring Alopecia
A woman with unexplained hair loss was found to have harmless skin tumors and a scarring hair loss condition, but the tumors didn't cause the hair loss.
research Study of the International Epidemiology of Androgenetic Alopecia in Young Caucasian Men Using Photographs from the Internet
research Three-Dimensional Analysis of Sex- and Gonadal Status-Dependent Microglial Activation in a Mouse Model of Parkinson's Disease
Sex and sex hormones can affect brain inflammation in Parkinson's disease, with male mice being more affected and female mice showing a protective effect.
research Case Report: Heterozygous Mutation in HTRA1 Causing Typical Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
research Is Dutasteride a Therapeutic Alternative for Amyotrophic Lateral Sclerosis?
Dutasteride, usually used for prostate issues and hair loss, could potentially treat Amyotrophic Lateral Sclerosis (ALS) due to its neuroprotective, antioxidant, and anti-inflammatory properties, but more testing is needed.
research Novel Compound Heterozygous Cadherin 3 Mutations in Hypotrichosis and Juvenile Macular Dystrophy
Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
research Hair That Is Difficult to Manage in a Hispanic Girl
A 9-year-old Hispanic girl has Uncombable Hair Syndrome, which may improve with age and biotin treatment.
research Effect of 5-Alpha Reductase Inhibitors in Animal Models of Parkinson's Disease
5-alpha reductase inhibitors may help protect the brain and gut in Parkinson's disease.
research A Rare Manifestation of STING-Associated Vasculopathy with Onset in Infancy: A Case Report
Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
research Frontal Fibrosing Alopecia: An Observational Single-Center Study of 306 Cases
The study concluded that Frontal fibrosing alopecia can affect younger people, is often missed in men, and may be autoimmune-related.
research The Spectrum of Fibrosing Alopecias
The document concludes that different types of permanent hair loss conditions are related and early treatment is key to preventing further damage.
research Circle Hairs in a Patient with Multiple Myeloma
An elderly woman with cancer improved after treatment for a rare skin condition with coiled hairs.
research Atypical Presentation of Lichen Planopilaris: Presentation of Two Cases and Review
Two unusual cases showed that Lichen Planopilaris can look like other skin conditions and need early treatment to protect hair.
research Comorbidities in Androgenetic Alopecia: A Comprehensive Review
Androgenetic alopecia is linked to heart disease, metabolic issues, and mental health problems.
research Male Androgenetic Alopecia
Male androgenetic alopecia (MAA) is a common, hereditary hair loss condition in men, linked to heart disease, and can be treated with minoxidil, finasteride, or hair transplantation.