Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Maike Marczenke"'
Publikováno v:
Stem Cell Research, Vol 21, Iss C, Pp 26-28 (2017)
Loss-of-function mutations in the PITX2 transcription factor gene have been shown to cause familial atrial fibrillation (AF). To potentially model aspects of AF and unravel PITX2-regulated downstream genes for drug target discovery, we here report th
Externí odkaz:
https://doaj.org/article/1831d3c9d18c42a5b6b7d8322587cf57
Cardiac Subtype-Specific Modeling of Kv1.5 Ion Channel Deficiency Using Human Pluripotent Stem Cells
Autor:
Maike Marczenke, Ilaria Piccini, Isabella Mengarelli, Jakob Fell, Albrecht Röpke, Guiscard Seebohm, Arie O. Verkerk, Boris Greber
Publikováno v:
Frontiers in Physiology, Vol 8 (2017)
The ultrarapid delayed rectifier K+ current (IKur), mediated by Kv1.5 channels, constitutes a key component of the atrial action potential. Functional mutations in the underlying KCNA5 gene have been shown to cause hereditary forms of atrial fibrilla
Externí odkaz:
https://doaj.org/article/a6c531ad6cdc49de92418ae8f227e181
Publikováno v:
Human Molecular Genetics
Conotruncal malformations are a major cause of congenital heart defects in newborn infants. Recently, genetic screens in humans and in mouse models have identified mutations in LRP2, a multi-ligand receptor, as a novel cause of a common arterial trun
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::59865a3279a8780ce165986039930f37
https://pubmed.ncbi.nlm.nih.gov/32901292
https://pubmed.ncbi.nlm.nih.gov/32901292
Autor:
Julia, Flemming, Maike, Marczenke, Ina-Maria, Rudolph, Rikke, Nielsen, Tina, Storm, Ilsoe Christensen, Erik, Sebastian, Diecke, Francesco, Emma, Thomas E, Willnow
Publikováno v:
Flemming, J, Marczenke, M, Rudolph, I M, Nielsen, R, Storm, T, Christensen, E I, Diecke, S, Emma, F & Willnow, T E 2020, ' Induced pluripotent stem cell-based disease modeling identifies ligand-induced decay of megalin as a cause of Donnai-Barrow syndrome ', Kidney International, vol. 98, no. 1, pp. 159-167 . https://doi.org/10.1016/j.kint.2020.02.021
Kidney International
Kidney International
Donnai-Barrow syndrome (DBS) is an autosomal-recessive disorder characterized by multiple pathologies including malformation of forebrain and eyes, as well as resorption defects of the kidney proximal tubule. The underlying cause of DBS are mutations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d2bf201bb479df0e4ea0ede51d85e907
https://pure.au.dk/ws/files/220252028/1_s2.0_S0085253820302635_main.pdf
https://pure.au.dk/ws/files/220252028/1_s2.0_S0085253820302635_main.pdf
Autor:
Sebastian Diecke, Maike Marczenke, E. I. Christensen, Rikke Nielsen, Tina Storm, Julia Flemming, Ina-Maria Rudolph, Francesco Emma, Thomas E. Willnow
Publikováno v:
Kidney International. 100:482
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4452c0c48986c5b4d6c32bce20ce00b3
https://doi.org/10.1016/j.kint.2021.06.014
https://doi.org/10.1016/j.kint.2021.06.014