A 3d renal proximal tubule on chip model phenocopies Lowe syndrome and Dent II disease tubulopathy

Autor: Maté Ongenaert, Elizabeth Smythe, Richard A.J. Janssen, Henriëtte L. Lanz, Andrew R. Wood, Jan Stallen, Edo D. Elstak, Kai S. Erdmann, Sindhu Naik, Paniz Saidiyan

Publikováno v: International Journal of Molecular Sciences
Volume 22
Issue 10
International Journal of Molecular Sciences, Vol 22, Iss 5361, p 5361 (2021)

Lowe syndrome and Dent II disease are X-linked monogenetic diseases characterised by a renal reabsorption defect in the proximal tubules and caused by mutations in the OCRL gene, which codes for an inositol-5-phosphatase. The life expectancy of patie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1a74c7147185d794d1909aada6e0337
https://eprints.whiterose.ac.uk/174740/1/ijms-22-05361-v2.pdf