research Shortcutting the Diagnostic Odyssey: The Multidisciplinary Program for Undiagnosed Rare Diseases in Adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
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390-420 / 1000+ results research A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
research The Polycystic Ovary Syndrome: Challenges and Opportunities in Adolescent Medicine
Early treatment of PCOS in teens is crucial to prevent long-term health issues like diabetes and heart disease.
research Pro-Regenerative Hydrogel Restores Scarless Skin During Cutaneous Wound Healing
A special hydrogel helps heal skin without scars and regrows hair.
research Dermal Papilla Cells and Melanocytes Response to Physiological Oxygen Levels Depends on Their Interactions
Low oxygen levels improve the function of hair and skin cells when they are in direct contact.
research A Missense Mutation in Lama3 Causes Androgen Alopecia
A gene mutation in Lama3 is linked to a common type of hair loss.
research The Slick Hair Coat Locus Maps to Chromosome 20 in Senepol-Derived Cattle
The gene for slick hair in Senepol cattle is located on chromosome 20 and may involve the SRD5A2 gene.
research Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses
Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.
research PNKP Is Required for Maintaining the Integrity of Progenitor Cell Populations in Adult Mice
PNKP is essential for keeping adult mouse progenitor cells healthy and growing normally.
research Role of Androgen on Physiological Function of Pilosebaceous Unit
Androgen affects oil production and hair growth in the skin.
research Experimental Induction of Alopecia Areata-Like Hair Loss in C3H/HeJ Mice Using Full-Thickness Skin Grafts
Skin grafts on mice can cause an immune response leading to hair loss, useful for studying human hair loss conditions.
research Epidermal Keratinocytes Initiate Wound Healing and Pro-Inflammatory Immune Responses Following Percutaneous Schistosome Infection
Epidermal keratinocytes start wound healing and inflammation after schistosome infection.
research Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
research Culture and Differentiation of Human Hair Follicle Dermal Papilla Cells in a Soft 3D Self-Assembling Peptide Scaffold
The 3D scaffold helped maintain hair cell traits and could improve hair loss treatments.
research Regulation and Role of GLI1 in Cutaneous Squamous Cell Carcinoma Pathogenesis
GLI1 might protect against the start of skin cancer and is not linked to cancer severity.
research Abstracts
Young HS patients often have other physical and mental health issues, and research on HS covers a wide range of topics including genetics, triggers, treatments, and the need for more data.
research FLCN Regulates Transferrin Receptor 1 Transport and Iron Homeostasis
FLCN helps control iron levels in cells.
research Scaffolds for Epithelial and Hair Follicle Regeneration
Electrospun matrices help regenerate skin and hair follicles using PCL and collagen scaffolds.
research Approaches to Lifestyle Management in Polycystic Ovary Syndrome
Lifestyle changes like diet and exercise are key for treating overweight women with polycystic ovary syndrome.
research Ontogenetic Transition in Fetal Wound Transforming Growth Factor-Beta Regulation Correlates with Collagen Organization
Fetal wound healing changes with development, affecting inflammation and collagen, which may influence scarring.
research AXR3 and SHY2 Interact to Regulate Root Hair Development
AXR3 and SHY2 genes control the growth and timing of root hair development in plants.
research Independent DSG4 Frameshift Variants in Cats with Hair Shaft Dystrophy
Cats with abnormal hair had DSG4 gene changes causing hair problems.
research The Mouse Hairy Ears Mutation Exhibits an Extended Growth (Anagen) Phase in Hair Follicles and Altered Hoxc Gene Expression in the Ears
The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.
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 STUB1 Mutations in Autosomal Recessive Ataxias – Evidence for Mutation-Specific Clinical Heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research The Polycystic Ovary Syndrome Evolutionary Paradox: A Genome-Wide Association Studies-Based, In Silico, Evolutionary Explanation
The research suggests that the global distribution of PCOS is likely due to historical human migration and that genes affecting PCOS may have different impacts on males and females.
research TCL1 Transgenic Mouse Model as a Tool for the Study of Therapeutic Targets and Microenvironment in Human B-Cell Chronic Lymphocytic Leukemia
The TCL1 transgenic mouse model is useful for understanding human B-cell leukemia and testing new treatments.
research Becker Nevus Syndrome
The document reports the first Brazilian case of a girl with Becker nevus syndrome, characterized by skin changes, breast underdevelopment, and scoliosis.
research 25 Hydroxyvitamin D 1 Alpha-Hydroxylase Is Required for Optimal Epidermal Differentiation and Permeability Barrier Homeostasis
The enzyme 25 Hydroxyvitamin D 1 α-Hydroxylase is essential for healthy skin and recovery after skin damage.
research Differences in Expression of Specific Biomarkers Distinguish Human Beard from Scalp Dermal Papilla Cells
Beard and scalp hair cells have different gene expressions, which may affect beard growth characteristics.