research C2orf37 Mutational Spectrum in Woodhouse-Sakati Syndrome Patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
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research Biallelic HEPHL1 Variants Impair Ferroxidase Activity and Cause an Abnormal Hair Phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research Esrp1-Regulated Splicing of Arhgef11 Isoforms Is Required for Epithelial Tight Junction Integrity
The study concluded that specific proteins are necessary to maintain the structure that holds epithelial cells tightly together.
research Histopathological and Ultrastructural Study of Ectodermal Dysplasia/Skin Fragility Syndrome
The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
research Epithelial Integrity Is Maintained by a Matriptase-Dependent Proteolytic Pathway
Matriptase is crucial for keeping epithelial tissues healthy and functioning properly.
research Clinical and Molecular Genetic Studies in Hereditary Hair Loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research Physiological Functions of PP2A: Lessons from Genetically Modified Mice
Mice studies show that Protein Phosphatase 2A is crucial for cell growth, development, and disease prevention.
research Metabolic and Pathologic Profiles of Human LSS Deficiency Recapitulated in Mice
Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
research Genetics of Structural Hair Disorders
The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
research Ppp2r2a Knockout Mice Reveal That Protein Phosphatase 2A Regulatory Subunit, PP2A-B55α, Is an Essential Regulator of Neuronal and Epidermal Embryonic Development
The PP2A-B55α protein is essential for brain and skin development in embryos.
research Dermatopathology and Molecular Genetics
Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.
research Pleiotropic Role of Notch Signaling in Human Skin Diseases
Notch signaling disruptions can cause various skin diseases.
research Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
research FGF5 Is a Crucial Regulator of Hair Length in Humans
FGF5 gene mutations cause unusually long eyelashes by affecting hair growth regulation.
research Mutations in the Vitamin D Receptor and Hereditary Vitamin D-Resistant Rickets
Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
research Melanoma: Genetic Abnormalities, Tumor Progression, Clonal Evolution, And Tumor-Initiating Cells
Melanoma's complexity requires personalized treatments due to key genetic mutations and tumor-initiating cells.
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 Deletion of DNA Binding Domain of the Vitamin D Receptor Abrogates Genomic and Nongenomic Functions of Vitamin D
Removing part of the vitamin D receptor stops vitamin D from working properly.
research In Vivo Transcriptional Governance of Hair Follicle Stem Cells by Canonical Wnt Regulators
Wnt signaling controls whether hair follicle stem cells stay inactive or regenerate hair.
research Sulfotransferases, Sulfatases, and Formylglycine-Generating Enzymes: A Sulfation Fascination
The document concludes that understanding sulfation biology is crucial for creating treatments due to its importance in biological functions and disease.
research Extracellular Matrix as a Regulator of Epidermal Stem Cell Fate
The extracellular matrix is crucial for controlling skin stem cell behavior and health.
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 The Nuclear Vitamin D Receptor: Biological and Molecular Regulatory Properties Revealed
The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.
research K ATP Channels and Cardiovascular Disease
K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
research Vestibular Hair Cell Regeneration and Restoration of Balance Function Induced by Math1 Gene Transfer
Gene therapy with the Math1 gene helped regenerate balance-related cells and improve balance in mice.
research Cell Death in the Skin: Mechanisms and Implications
Understanding how cells die in the skin is important for treating skin diseases and preventing hair loss.
research Biology and Genetics of Hair
The document concludes that understanding the genes and pathways involved in hair growth is crucial for developing treatments for hair diseases.
research TNF Superfamily in Skin Appendage Development
TNF family proteins are crucial for the development of skin features like hair, teeth, and mammary glands.
research Foxp3 Post-Translational Modifications and Treg Suppressive Activity
Changes to the Foxp3 protein affect how well regulatory T cells can control the immune system, which could help treat immune diseases and cancer.