Search
for

    Research

    5 / 1000+ results

      research Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants

      6 citations , June 2021 in “˜The œjournal of investigative dermatology/Journal of investigative dermatology”
      This study observed that the SREBF1 mutation c.1669C>T (p.Arg557Cys) may act as a recurrent hotspot mutation associated with both hereditary mucoepithelial dysplasia and autosomal-dominant ichthyosis follicularis with atrichia and photophobia syndrome, suggesting they may be on the same clinical spectrum.

      research The human keratins: biology and pathology

      1398 citations , May 2008 in “Histochemistry and Cell Biology”
      This review summarizes the cell type distribution and functional significance of human keratins, emphasizing their roles in tumor diagnosis and potential clinical applications, and reports no new clinical findings.

      research Skin Development and Disease: A Molecular Perspective

      15 citations , July 2024 in “Current Issues in Molecular Biology”
      This narrative review explores the molecular mechanisms driving skin development and their role in skin diseases, emphasizing how disruptions in these pathways can lead to conditions like congenital disorders and cancers, potentially guiding new targeted therapies.

      research Benign skin tumors

      December 2016
      This chapter classifies various benign skin tumors and discusses their characteristics, treatment indications, and potential for recurrence, but reports no new clinical findings.