research Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat
A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
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990-1000 / 1000+ results 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 ADAM17 variant causes hair loss via ubiquitin ligase TRIM47 mediated degradation
A variant in the ADAM17 gene causes hair loss by increasing protein degradation through TRIM47.
research WISP-1 induced by mechanical stress contributes to fibrosis and hypertrophy of the ligamentum flavum through Hedgehog-Gli1 signaling
Targeting Hedgehog signaling may help treat ligamentum flavum fibrosis.
research Normalization of hair growth in sparse fur-abnormal skin and hair (SPF-ASH) mice by introduction of the rat ornithine transcarbamylase (OTC) gene
Introducing the rat OTC gene normalized hair growth in SPF-ASH mice.
research Necrobiosis Lipoidica
Necrobiosis lipoidica may need new criteria for accurate diagnosis due to similarities with another condition.
research Genetics of Progeria and Aging
Progeria, a disease that causes early aging, is linked to a gene mutation and helps us understand normal aging.
research A Clinicopathological and Immunofluorescence study of Lichen Planus
Lichen planus commonly affects middle-aged adults, often involves limbs and mucosal areas, and can be linked to immune diseases.
research 1434 Epithelially derived MPZL3 negatively regulates murine and human sebaceous gland size and sebocyte proliferation
MPZL3 protein helps control the size of oil glands and the growth of oil-producing cells in both mice and humans.
research 090 Reactive lipids from the secretome of senescent fibroblasts modify the extracellular matrix with functional consequences for resident cells
Reactive lipids from aging cells change the extracellular matrix, affecting cell function and inflammation.