28 citations
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February 2010 in “Experimental Dermatology” This study concluded that the frizzy mutation in mice is linked to a T to A transversion in Prss8 and is orthologous to the 'hairless' mutation in rats.
99 citations
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October 2008 in “Journal of Investigative Dermatology” This study identified genetic mutations linked to congenital ichthyosis in families from the UAE and Turkey, revealing a connection between keratinization disorders and impaired filaggrin processing.
9 citations
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March 2018 in “European journal of dermatology/EJD. European journal of dermatology” This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.
7 citations
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January 2023 in “Frontiers in Cell and Developmental Biology” This review provides a comprehensive overview of apoptosis-related molecules in head development, highlighting caspases' roles and associated abnormalities in tissues like the brain, sensory organs, skin, and bones, without reporting new results.
137 citations
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October 2009 in “The American journal of pathology” This study found that matriptase, a membrane serine protease, is crucial for maintaining multiple types of epithelial tissues in mice, with its absence leading to severe organ dysfunction and increased permeability.