research Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families
Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
Search
for
Sort by
Research
420-450 / 1000+ resultsresearch Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases
H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.
research Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson–Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies
Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
research Patient prioritisation of impact items to develop the patient‐reported impact of dermatological diseases (PRIDD ) measure: European Delphi data
Patients with skin diseases rated psychological effects as most impactful, needing a treatment approach that addresses both mind and body.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex
Mutant keratins cause inflammation in Epidermolysis Bullosa Simplex, suggesting targeting them could help treat the disorder.
research Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
research Industry Updates from the Field of Stem Cell Research and Regenerative Medicine in December 2019
Significant progress and collaborations in stem cell research and regenerative medicine were made, including advancements in hair growth, cancer therapies, and treatments for neurological disorders.
research Proceedings of the Ninth World Congress for Hair Research (2015)
The 2015 Hair Research Congress concluded that stem cells, maraviroc, and simvastatin could potentially treat Alopecia Areata, topical minoxidil, finasteride, and steroids could treat Frontal Fibrosing Alopecia, and PTGDR2 antagonists could also treat alopecia. They also found that low-level light therapy could help with hair loss, a robotic device could assist in hair extraction, and nutrition could aid hair growth. They suggested that Alopecia Areata is an inflammatory disorder, not a single disease, indicating a need for personalized treatments.
research Trichotillomania: What Do We Know So Far?
Trichotillomania treatment is most successful with a mix of behavioral therapy, medication, and social support.
research Focused Review on Metal Nanoparticles in Hair Regeneration and Alopecia: Insights into Mechanisms, Assessment Techniques, Toxicity, Regulatory and Intellectual Property Perspectives
Metal nanoparticles show promise for treating hair loss but need more research to ensure safety.
research Severe Skin Permeability Barrier Dysfunction in Knockout Mice Deficient in a Fatty Acid ω-Hydroxylase Crucial to Acylceramide Production
Lack of a key enzyme causes severe skin issues and death in mice.
research Alopecia Areata: Pathogenesis, Diagnosis, and Therapies
Alopecia areata causes unpredictable hair loss, and more research is needed to fully understand and treat it effectively.
research Pathological Mechanisms Involved in Epidermolysis Bullosa Simplex: Current Knowledge and Therapeutic Perspectives
Promising treatments for EBS include anti-inflammatory drugs, antibiotics, creams, mTOR inhibitors, and gene editing, but more trials are needed.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research Bachmann–Bupp syndrome and treatment
DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
research Recomendaciones sobre el manejo clínico de la alopecia androgénica: un documento de consenso del Grupo Español de Tricología de la Academia Española de Dermatología y Venereología
Dermatologists recommend oral dutasteride for male hair loss, low-dose oral minoxidil for female hair loss, and a multidisciplinary approach for young patients, with caution during pregnancy.
research Perfectionism and Baldness Distress in Men
Men who are perfectionists feel more upset about baldness, partly due to aging anxiety.
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research Genomic prediction and genome-wide association studies of morphological traits and distraction index in Korean Sapsaree dogs
Genomic prediction can improve breeding strategies for Korean Sapsaree dogs.
research Metabolic Syndrome, Hepatic Steatosis and Testosterone: A Matter of Sex
Sex hormones affect liver fat and metabolic health differently in men and women.
research Comparison of Current International Guidelines for the Management of Alopecia Areata—Comprehensive Review
International guidelines for treating alopecia areata vary, focusing on different treatment options and related health issues.
research The Biology and Genomics of Human Hair Follicles: A Focus on Androgenetic Alopecia
Hair loss in Androgenetic Alopecia is caused by genetics, aging, and lifestyle, leading to hair follicle shrinkage and related health risks.
research The diversity of sex development: What do conditions affecting sex development teach us about sexual diversity?
Conditions affecting sex development show that sexual diversity is a natural part of human variation.
research Fade haircut or something else?
The hair loss is likely due to a fade haircut.
research Selection of Anti-Depressants in Geriatric Dermatoses- A Questionnaire Study of Dermatologists in Western Rajasthan, India
Most dermatologists in Western Rajasthan prefer the anti-depressant Doxepin for elderly skin conditions and often refer patients to a psychiatrist.
research A systematic review of models of care for polycystic ovary syndrome highlights the gap in the literature, especially in developing countries
The review found that current care models for PCOS are not fully effective and more research is needed, especially in low-income countries.
research Female doping: observations from a data lake study in the Hospital District of Helsinki and Uusimaa, Finland
Many women who have used performance-enhancing drugs in Finland show high rates of mental health and substance use issues, and most have normal red blood cell counts.
research Trichoscopy in genetic hair shaft abnormalities
Trichoscopy is a quick and easy way to diagnose most genetic hair problems without invasive methods.
research New developments in the molecular treatment of ichthyosis: review of the literature
New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.