Miguel Van Bemmelen

Publications | Phd and Masters theses

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8 publications

2023 | 2022 | 2017 | 2015 | 2014 | 2007 | 2002 |
 
A mild and transient form of autosomal recessive pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene.
Efthymiadou A., Gautschi I., van Bemmelen M.X., Sertedaki A., Giannakopoulos A., Chrousos G., Schild L., Chrysis D., 2023/07/01. American journal of physiology. Endocrinology and metabolism, 325 (1) pp. E1-E9. Peer-reviewed.
The E3 ubiquitin-protein ligase Nedd4-2 regulates the sodium chloride cotransporter NCC but is not required for a potassium-induced reduction of NCC expression.
Rosenbaek L.L., Petrillo F., van Bemmelen M.X., Staub O., Murali S.K., Fenton R.A., 2022. Frontiers in physiology, 13 p. 971251. Peer-reviewed.
 
A Missense Mutation in the Extracellular Domain of αENaC Causes Liddle Syndrome.
Salih M., Gautschi I., van Bemmelen M.X., Di Benedetto M., Brooks A.S., Lugtenberg D., Schild L., Hoorn E.J., 2017. Journal of the American Society of Nephrology, 28 (11) pp. 3291-3299. Peer-reviewed.
Proton and non-proton activation of ASIC channels.
Gautschi I., van Bemmelen M.X., Schild L., 2017. PloS one, 12 (4) pp. e0175293. Peer-reviewed.
The Human Acid-Sensing Ion Channel ASIC1a: Evidence for a Homotetrameric Assembly State at the Cell Surface.
van Bemmelen M.X., Huser D., Gautschi I., Schild L., 2015. Plos One, 10 (8) pp. e0135191. Peer-reviewed.
 
Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A.
García Segarra N., Gautschi I., Mittaz-Crettol L., Kallay Zetchi C., Al-Qusairi L., Van Bemmelen M.X., Maeder P., Bonafé L., Schild L., Roulet-Perez E., 2014. Journal of the Neurological Sciences, 342 (1-2) pp. 69-78. Peer-reviewed.
 
Early aldosterone-induced gene product regulates the epithelial sodium channel by deubiquitylation.
Fakitsas P., Adam G., Daidié D., van Bemmelen M.X., Fouladkou F., Patrignani A., Wagner U., Warth R., Camargo S.M., Staub O. et al., 2007/04. Journal of the American Society of Nephrology, 18 (4) pp. 1084-1092. Peer-reviewed.
 
Random Insertion of Green Fluorescent Protein into the Regulatory Subunit of Cyclic Adenosine Monophosphate-Dependent Protein Kinase
Baehler Pascal J., Biondi Ricardo M., van Bemmelen Miguel, Véron Michel, Reymond Christophe D., 2002. pp. 057-068 dans Green Fluorescent Protein chap. 5, Humana Press.
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