2 citations
,
July 2015 in “Archives of Dermatological Research” This study reports the first familial case of alopecia linked to a novel homozygous variant in the DSP gene, which did not coincide with heart abnormalities despite prior associations.
12 citations
,
January 2013 in “Acta Histochemica” Junctional proteins stabilize the inner root sheath and connect the companion layer in human hair.
2 citations
,
September 2004 in “Experimental Dermatology” This study found that desmosomal adhesion plays a crucial role in epithelial morphogenesis and cell positioning, equivalent in importance to that of adherens junctions.
89 citations
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September 2010 in “Annual Review of Genomics and Human Genetics” This review discusses the genetic factors involved in hair follicle morphogenesis and cycling and reports no new clinical results; it emphasizes the role of genes in hereditary hair diseases.
31 citations
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August 2005 in “The American Journal of Dermatopathology” This study investigated the histopathology of ectodermal dysplasia/skin fragility syndrome, identifying specific skin and hair abnormalities associated with PKP1 gene mutations in two young female patients.