research British Society for Pediatric Dermatology Annual Meeting, Sheffield, 18-19 November 2016
The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
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research Keratin Disorders: From Gene to Therapy
New treatments targeting specific genes show promise for treating keratin disorders.
research WNT10A Mutation Causes Ectodermal Dysplasia by Impairing Progenitor Cell Proliferation and KLF4-Mediated Differentiation
A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.
research Perspectives of Kennedy's Disease
Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
research Immune Deficiency-Related Enteropathy-Lymphocytopenia-Alopecia Syndrome Results from Tetratricopeptide Repeat Domain 7A Deficiency
A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
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 A Novel Homozygous Variant in the DSP Gene Underlies the First Case of Non-Syndromic Form of Alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.
research Influence of NUDT15 Genotyping on Dose Intensity of Thiopurine Administration and Long-Term Clinical Outcomes
Personalized thiopurine dosing based on NUDT15 genotyping can improve long-term outcomes for ulcerative colitis and Crohn's disease patients.
research Deletion of the Developmentally Essential Gene ATR in Adult Mice Leads to Age-Related Phenotypes and Stem Cell Loss
Removing the ATR gene in adult mice causes rapid aging and stem cell loss.
research Aging and Immortality: Quasi-Programmed Senescence and Its Pharmacologic Inhibition
The conclusion is that using drugs to block the TOR pathway might slow aging and prevent age-related diseases.
research FOXN1: A Master Regulator Gene of Thymic Epithelial Development Program
The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
research Lamins in Development, Tissue Maintenance, and Stress
Lamins are vital for cell survival, organ development, and preventing premature aging.
research The Pharmacology of Regenerative Medicine
Regenerative pharmacology, which combines drugs with regenerative medicine, shows promise for repairing damaged body parts and needs more interdisciplinary research.
research Morphological Approach to Hair Disorders
Accurate clinical, histological, and genetic methods are key for understanding and treating hair disorders.
research Dermatopathology and Molecular Genetics
Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
research Whole Exome Sequencing in Alopecia Areata Identifies Rare Variants in KRT82
Rare changes in the KRT82 gene are linked to a higher risk of Alopecia Areata.
research Homologous Recombination Induced by Doxazosin Mesylate and Saw Palmetto in the Drosophila Wing-Spot Test
Doxazosin mesylate and saw palmetto cause genetic changes in fruit flies.
research Genetics and Pathophysiology of Congenital Adrenal Hyperplasia
The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.
research Biotin And Biotinidase Deficiency
Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.
research Heterogeneity in the Genetic Alterations and Clinical Presentation of Acrodermatitis Enteropathica: Case Report and Literature Review
AE can have varied symptoms and genetic causes, but zinc therapy helps.
research CDH3 Gene Related Hypotrichosis and Juvenile Macular Dystrophy: A Case with a Novel Mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research Epidermolysis Bullosa Simplex in Children with De Novo Pathogenic Variants Disturbing KRT14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
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 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 Hutchinson-Gilford Progeria Syndrome: Current Status and Prospects for Gene Therapy Treatment
Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
research The Effect of Dietary Modulation of Sulfur Amino Acids on Cystathionine Beta Synthase–Deficient Mice
Changing the diet of mice lacking the enzyme CBS can affect symptoms related to the genetic condition.
research Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
research Replicative Stress, Stem Cells, and Aging
Maintaining DNA health in stem cells is key to preventing aging and tissue breakdown.
research Genetic Interplays Between Msx2 And Foxn1 Are Required For Notch1 Expression And Hair Shaft Differentiation
Msx2 and Foxn1 are both crucial for hair growth and health.