research Fibrodysplasia Ossificans Progressiva: A Segmental Progeroid Syndrome
Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
Search
for
Sort by
Research
900-930 / 1000+ resultsresearch Premature Aging Syndromes: From Patients to Mechanism
Studying premature aging syndromes helps understand human aging and suggests potential treatments.
research Disruption of Tubular Flcn Expression as a Mouse Model for Renal Tumor Induction
Disrupting the Flcn gene in mice causes early kidney cysts and tumors, which can be treated with rapamycin.
research Milestones in Photocarcinogenesis
UV radiation causes skin cancer, but sunscreens and certain drugs can help prevent it.
research Survival of Patchwork Melanoblasts Is Dependent Upon Their Number in the Hair Follicle at the End of Embryogenesis
More melanoblasts in hair follicles mean better survival and proper hair pigmentation.
research Gain-Of-Function Variants In The ODC1 Gene Cause A Syndromic Neurodevelopmental Disorder Associated With Macrocephaly, Alopecia, Dysmorphic Features, And Neuroimaging Abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research Genetic Hair Disorders: A Review
The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
research Novel and Recurrent Mutations in the AIRE Gene of Autoimmune Polyendocrinopathy Syndrome Type 1 (APS1) Patients
Arab APS1 patients have unique and recurrent AIRE gene mutations.
research The Immunological Impact of IL-1 Family Cytokines on the Epidermal Barrier
IL-1 family cytokines are crucial for skin defense and healing, but their imbalance can cause skin diseases.
research Expanding Phenotype of Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis Caused by FAM111B Mutations: Report of an Additional Family Raising the Question of Cancer Predisposition and a Short Review of Early-Onset Poikiloderma
The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
research Sebaceous Gland, Hair Shaft, and Epidermal Barrier Abnormalities in Keratosis Pilaris with and without Filaggrin Deficiency
Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.
research PTEN Mediates Activation of Core Clock Protein BMAL1 and Accumulation of Epidermal Stem Cells
PTEN helps control the number and health of skin stem cells by working with the protein BMAL1.
research Foxp1 Regulates the Proliferation of Hair Follicle Stem Cells in Response to Oxidative Stress During Hair Cycling
Foxp1 helps control hair stem cell growth and response to stress during hair growth cycles.
research Loss of Msx2 Function Down-Regulates the FoxE3 Expression and Results in Anterior Segment Dysgenesis Resembling Peters Anomaly
Loss of Msx2 function causes eye development issues similar to Peters anomaly.
research Human Clinical Phenotype Associated With FOXN1 Mutations
FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.
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.
research Colchicine in Managing Skin Conditions: A Systematic Review
Colchicine might help treat different skin diseases, but more research is needed to confirm its effectiveness and safe dosage.
research Thiopurines: Recent Topics and Their Role in the Treatment of Inflammatory Bowel Diseases
Thiopurines help treat IBD but require genetic testing to avoid side effects.
research Alopecia Areata Susceptibility Variant in MHC Region Impacts Expressions of Genes Contributing to Hair Keratinization and Is Involved in Hair Loss
A gene variant increases the risk of a type of hair loss by affecting hair protein production.
research KCNQ Potassium Channels Modulate Sensitivity of Skin Down-Hair (D-Hair) Mechanoreceptors
KCNQ potassium channels help control the sensitivity of touch receptors in the skin.
research Biochemical and Structural Characteristics, Gene Regulation, Physiological, Pathological and Clinical Features of Lipocalin-Type Prostaglandin D2 Synthase as a Multifunctional Lipocalin
Lipocalin-Type Prostaglandin D2 Synthase (L-PGDS) is a protein that plays many roles in the body, including sleep regulation, pain management, food intake, and protection against harmful substances. It also affects fat metabolism, glucose intolerance, cell maturation, and is involved in various diseases like diabetes, cancer, and arthritis. It can influence sex organ development and embryonic cell differentiation, and its levels can be used as a diagnostic marker for certain conditions.
research A Novel PLEC Nonsense Homozygous Mutation (c.7159G > T; p.Glu2387*) Causes Epidermolysis Bullosa Simplex with Muscular Dystrophy and Diffuse Alopecia: A Case Report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research The Role of Nrf2 in Hearing Loss
Activating Nrf2 can help protect against hearing loss.
research Mice Lacking the Epidermal Retinol Dehydrogenases SDR16C5 and SDR16C6 Display Accelerated Hair Growth and Enlarged Meibomian Glands
Mice without certain skin enzymes have faster hair growth and bigger eye glands.
research Cyclic Alopecia and Abnormal Epidermal Cornification in Zdhhc13-Deficient Mice Reveal the Importance of Palmitoylation in Hair and Skin Differentiation
The enzyme DHHC13 is essential for healthy hair and skin, and its deficiency leads to hair loss and skin problems.
research Adverse Events Associated with Azathioprine Treatment in Korean Pediatric Inflammatory Bowel Disease Patients
Azathioprine caused side effects in over half of the Korean pediatric inflammatory bowel disease patients, requiring close monitoring.
research Rapamycin But Not Acarbose Decreases Age-Related Loss of Outer Hair Cells in the Mouse Cochlea
Rapamycin reduces age-related hearing cell loss in mice, but acarbose does not.
research Novel Insights Into the Molecular Mechanisms Underlying Generalized Glucocorticoid Resistance and Hypersensitivity Syndromes
Genetic defects in the glucocorticoid receptor gene can cause conditions with abnormal sensitivity to stress hormones, and other factors may also affect this sensitivity.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research Role of 5 Alpha-Reductase Inhibitors in the Management of Prostate Cancer
5 alpha-reductase inhibitors like finasteride may lower prostate cancer risk and improve cancer screening.