9 citations
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September 2019 in “PLoS ONE” This study demonstrated that keratin K124 is specific to equine hoof lamellar tissue and established monoclonal antibodies that can specifically recognize K124 without cross-reacting with other tissues.
16 citations
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April 2000 in “Journal of Investigative Dermatology” The study reports that the AVET system showed higher efficiency in transfecting cultured human keratinocytes compared to SuperFect and PrimeFector, with AVET reaching levels of enzyme activity similar to normal cells in keratinocytes from lamellar ichthyosis patients.
7 citations
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January 1986 in “Prenatal Diagnosis” This study demonstrated that biochemical analysis of proteins from fetal skin biopsies is feasible, potentially enhancing prenatal diagnostic capabilities for protein-related disorders.
This chapter reviews various skin disorders classified as Mendelian disorders of cornification and reports no new clinical findings, highlighting the complexity of genetics involved in inherited ichthyoses.
34 citations
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June 1992 in “Journal of Cutaneous Pathology” In this case study, electron microscopy revealed that harlequin ichthyosis involves giant mitochondria in keratinocytes and abnormal lamellar granule development, which may contribute to pathogenesis through altered lipid metabolism.