research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
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990-1000 / 1000+ results research Human ClinicalPhenotype Associated with FOXN1 Mutations
FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.
research Long-Term Bezafibrate Treatment Improves Skin and Spleen Phenotypes of the mtDNA Mutator Mouse
Bezafibrate treatment improved skin and spleen health in aging mice but didn't extend lifespan.
research The targeted overexpression of a Claudin mutant in the epidermis of transgenic mice elicits striking epidermal and hair follicle abnormalities
research Spatiotemporal Expression, Distribution, and Processing of POMC and POMC-derived Peptides in Murine Skin
POMC-derived peptides are important for skin functions like immune response and stress management.
research Faculty Opinions recommendation of Lrig1 expression defines a distinct multipotent stem cell population in mammalian epidermis.
Lrig1 marks a unique group of stem cells in mouse skin that can become different skin cell types.
research Conditional epidermal expression of TGFβ1 blocks neonatal lethality but causes a reversible hyperplasia and alopecia
TGFβ1 expression in skin causes hair loss and skin thickening, but these effects are reversible.
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.
research Skin-infiltrating CD4+ lymphoma cells depend on hair follicle-derived IL-7
Hair follicles produce IL-7, which is essential for certain skin lymphoma cells to survive.
research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.