research Germline Mutation in ATR in Autosomal-Dominant Oropharyngeal Cancer Syndrome
A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
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30-60 / 1000+ resultsresearch Increased Susceptibility to Skin Carcinogenesis Associated with a Spontaneous Mouse Mutation in the Palmitoyl Transferase Zdhhc13 Gene
A mouse gene mutation increases the risk of skin cancer.
research Syndactyly Type III and Hypotrichosis in Oculodentodigital Syndrome with GJA1 Mutation
A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
research Early Dengue Virus Infection in Human Skin: A Cycle of Inflammation and Infectivity
Chicken feather gene mutation helps understand human hair disorders.
research A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
research Cutaneous Lymphadenoma Is a Distinct Trichoblastoma-like Lymphoepithelial Tumor With Diffuse Androgen Receptor Immunoreactivity, Notch1 Ligand in Reed-Sternberg-like Cells, and Common EGFR Somatic Mutations
Cutaneous Lymphadenoma is a unique skin tumor with specific protein markers and common gene mutations that may cause continuous cell growth.
research Gene Therapy: Recent Advances and Applications in Dermatology
Gene therapy shows promise for treating skin disorders and cancer, but faces technical challenges.
research Recent Advances in the Molecular Mechanisms Determining Tissue Sensitivity to Glucocorticoids: Novel Mutations, Circadian Rhythm, and Ligand-Induced Repression of the Human Glucocorticoid Receptor
New findings explain how genetic changes, body clocks, and certain molecules affect tissue response to stress hormones.
research Current Genetics in Hair Diseases
Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
research Acne-Associated Syndromes: Models for Better Understanding of Acne Pathogenesis
The document concludes that certain genetic mutations and dietary factors are involved in acne development, and treatments like isotretinoin and diet changes can help manage it.
research Congenital Hair Loss Disorders: Rare, But Not Too Rare
Some hair loss disorders are caused by genetic mutations affecting hair growth.
research Generalized Glucocorticoid Resistance
Mutations in the glucocorticoid receptor gene cause reduced sensitivity to glucocorticoids and may lead to poor response to treatment.
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 Integration of Biochemical and Mechanical Signals at the Nuclear Periphery: Impacts on Skin Development and Disease
The conclusion is that the nuclear lamina and LINC complex in skin cells respond to mechanical signals, affecting gene expression and cell differentiation, which is important for skin health and can impact skin diseases.
research Roles of Tumor Suppressors in Regulating Tumor-Associated Inflammation
Tumor suppressors help control inflammation in cancer and restoring their function could lead to new treatments.
research Direct Cellular Reprogramming Enables Development of Viral T Antigen-Driven Merkel Cell Carcinoma in Mice
Scientists made a mouse model of a serious skin cancer by changing skin cells with a virus and a specific gene, which is similar to the disease in humans.
research Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies
Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.
research Main Plenary Sessions: Summaries of Papers
The document concludes that accurate diagnosis and treatment are crucial in dermatology, and it presents various findings on skin conditions and treatments.
research The Genetics of Human Skin Disease
Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
research Clinical Impact of Molecular Diagnostics in Endocrinology
Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
research Transcriptome Analysis Reveals the Genetic Basis Underlying the Development of Skin Appendages and Immunity in Hedgehog (Atelerix Albiventris)
Genes related to keratin, skin cell differentiation, and immune functions are key in hedgehog skin and spine development.
research Transcriptome Analysis Reveals the Genetic Basis Underlying the Development of Skin Appendages and Immunity in Hedgehog (Atelerix Albiventris)
The study found that certain genes are important for hedgehog skin appendage development and immunity, with spines possibly evolving for protection and infection resistance.
research News in Brief
Researchers discovered potential origins and new treatments for skin cancer, including biomarkers for melanoma and therapies that reduce tumor growth.
research Cell Cycle Regulation and Regeneration
Mice that can regenerate tissue have cells that pause in the cell cycle, which is important for healing, similar to axolotls.
research Primary Generalized Glucocorticoid Resistance And Hypersensitivity
The conclusion is that genetic changes in the glucocorticoid receptor can lead to conditions affecting stress response, immunity, and metabolism, requiring personalized treatment.
research British Society for Dermatopathology: Summaries of Papers
Some skin conditions are associated with other serious diseases, and office microscopy may miss many fungal infections.
research Acne Syndromes and Mosaicism
Understanding how acne develops in different diseases could lead to new treatments.
research Wnt/β-Catenin Signaling: Function, Biological Mechanisms, and Therapeutic Opportunities
The Wnt/β-catenin pathway is important for body functions and diseases, and targeting it may treat conditions like cancer, but with safety challenges.
research Pleiotropic Role of Notch Signaling in Human Skin Diseases
Notch signaling disruptions can cause various skin diseases.
research Epimorphic Regeneration in Mice Is p53-Independent
Mice can regenerate ear tissue without the p53 protein.