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Knobloch syndrome in a patient from Chile
(Wiley, 2020)
Knobloch Syndrome (KS) is a rare autosomal recessive hereditary disease. Despite its clinical heterogeneity, it is characterized by vitreoretinal degeneration and high myopia, with or without occipital skull defects. It ...
Functionally conserved cis-regulatory elements of COL18A1 identified through zebrafish transgenesis
(ACADEMIC PRESS INC ELSEVIER SCIENCE, 2010)
Type XVIII collagen is a component of basement membranes, and expressed prominently in the eye, blood vessels, liver, and the central nervous system. Homozygous mutations in COL18A1 lead to Knobloch Syndrome, characterized ...
Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome
(MOLECULAR VISION, 2009)
Purpose: To facilitate future diagnosis of Knobloch syndrome (KS) and better understand its etiology, we sought to identify not yet described COL18A1 mutations in KS patients. In addition, we tested whether mutations in ...
Deletion of the Basement Membrane Heparan Sulfate Proteoglycan Type XVIII Collagen Causes Hypertriglyceridemia in Mice and Humans
(PUBLIC LIBRARY SCIENCE, 2010)
Background: Lipoprotein lipase (Lpl) acts on triglyceride-rich lipoproteins in the peripheral circulation, liberating free fatty acids for energy metabolism or storage. This essential enzyme is synthesized in parenchymal ...
Enfoque diagnóstico por imagen del trauma maxilofacial
(2012-12-07)
Reporte de casos de recién nacido 38 semanas con encefalocele parietal posterior, producto del curto embarazo de madre de 33 años. Ilustración y caracterización de las alteraciones documentadas por escanografía y resonancia ...