research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
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research The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant
The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
research Regulatory T Cell Heterogeneity in the Steady State and Tumor
Regulatory T cells adapt to different environments to control inflammation and support tissue repair.
research IL-15 in T-Cell Responses and Immunopathogenesis
IL-15 is key for T cell function and could help improve treatments for immune-related diseases.
research SAT-080 An Atypical Adenoma Presenting with Hyperandrogenism: A Rare Case Presentation on a Pituitary Germ Cell Tumor
A rare pituitary tumor in an 18-year-old male caused hormonal issues and vision loss, requiring surgery and further treatment.
research Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene
Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
research Mesenchymal Stem Cells from Mouse Hair Follicles Inhibit the Development of Type 1 Diabetes
Mouse hair follicle stem cells can help prevent Type 1 Diabetes.
research Gonadal Function Abnormalities in Sickle Cell Anemia
Sickle cell anemia causes hormone issues and delayed puberty due to testicular failure.
research ACUTE ZINC DEPLETION SYNDROME DURING PARENTERAL HYPERALIMENTATION
A patient with zinc depletion improved after zinc supplementation during parenteral nutrition.
research Nongenomic effects of 1α,25-dihydroxyvitamin D 3 on cartilage formation deduced from comparisons between Cyp27b1 and Vdr knockout mice
1α,25-dihydroxyvitamin D3 directly affects cartilage growth and development.