PNPLA1-Mediated Acylceramide Biosynthesis and Autosomal Recessive Congenital Ichthyosis

समान संसाधन

• Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis
  द्वारा: Serap Dökmeci-Emre, और अन्य
  प्रकाशित: (2017-08-01)
• Ceramides metabolism and impaired epidermal barrier in cutaneous diseases and skin aging: focus on the role of the enzyme PNPLA1 in the synthesis of ω-O-acylceramides and its pathophysiological involvement in some forms of congenital ichthyoses☆
  द्वारा: Jonca Nathalie
  प्रकाशित: (2019-01-01)
• Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis
  द्वारा: Liangshan Li, और अन्य
  प्रकाशित: (2020-02-01)
• ω-O-Acylceramides but not ω-hydroxy ceramides are required for healthy lamellar phase architecture of skin barrier lipids
  द्वारा: Lukáš Opálka, और अन्य
  प्रकाशित: (2022-06-01)
• Identification of Mutations in SDR9C7 in Three Patients with Autosomal Recessive Congenital Ichthyosis
  द्वारा: Juliette Mazereeuw-Hautier, और अन्य
  प्रकाशित: (2020-02-01)