Zobrazeno 1 - 10
of 279
pro vyhledávání: '"Laurent, Schild"'
Autor:
Alexandra Eythymiadou, Ivan Gautschi, Miguel Xavier van Bemmelen, Amalia Sertedaki, Aristeidis Giannakopoulos, George Chrousos, Laurent Schild, Dionisios Chrysis
Publikováno v:
American Journal of Physiology-Endocrinology and Metabolism.
Objective: To investigate the genetic etiology in a cohort of patients with a clinical, biochemical, and hormonal profile suggestive of a mild and transient form of PHA1. Patients - Methods: Twelve PHA1 patients with clinical and biochemical data wer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::92ef4f892dfbd95158ef1cff0d4e96b4
https://doi.org/10.1152/ajpendo.00332.2022
https://doi.org/10.1152/ajpendo.00332.2022
Publikováno v:
Frontiers in Physiology, Vol 9 (2018)
SLC2A9 or Glut9 is a voltage sensitive urate transporter, mainly expressed in the kidneys, the liver, and the intestine. Human Glut9 loss-of-function mutations were identified in familial hypouricemia, and several single nucleotide polymorphisms (SNP
Externí odkaz:
https://doaj.org/article/d6c00967366a4b14a3576735bade4fa4
Publikováno v:
PLoS ONE, Vol 12, Iss 4, p e0175293 (2017)
The Acid-Sensing Ion Channels (ASIC) exhibit a fast desensitizing current when activated by pH values below 7.0. By contrast, non-proton ligands are able to trigger sustained ASIC currents at physiological pHs. To analyze the functional basis of the
Externí odkaz:
https://doaj.org/article/524f60438fe34c97893bb3ab75180f56
Publikováno v:
PLoS ONE, Vol 10, Iss 8, p e0135191 (2015)
The chicken acid-sensing ion channel ASIC1 has been crystallized as a homotrimer. We address here the oligomeric state of the functional ASIC1 in situ at the cell surface. The oligomeric states of functional ASIC1a and mutants with additional cystein
Externí odkaz:
https://doaj.org/article/15b7c4e0f6b7422187e470be9dc57879
Publikováno v:
PLoS ONE, Vol 9, Iss 4, p e94267 (2014)
Membrane-bound serine proteases play important roles in different biological processes. Their regulation by endogenous inhibitors is poorly understood. A Y163C mutation in the SPINT2 gene encoding the serine protease inhibitor Hepatocyte Growth Facto
Externí odkaz:
https://doaj.org/article/02e7089b27bd4b1a993b62bf096c9aac
Autor:
Ewout J. Hoorn, Michael Di Benedetto, Alice S. Brooks, Laurent Schild, Miguel X. van Bemmelen, Ivan Gautschi, Mahdi Salih, Dorien Lugtenberg
Publikováno v:
Journal of the American Society of Nephrology, 28, 3291-3299
Journal of the American Society of Nephrology, 28, 11, pp. 3291-3299
Journal of the American Society of Nephrology, 28(11), 3290-3298. American Society of Nephrology
Journal of the American Society of Nephrology, 28, 11, pp. 3291-3299
Journal of the American Society of Nephrology, 28(11), 3290-3298. American Society of Nephrology
Item does not contain fulltext Liddle syndrome is an autosomal dominant form of hypokalemic hypertension due to mutations in the beta- or gamma-subunit of the epithelial sodium channel (ENaC). Here, we describe a family with Liddle syndrome due to a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f08290804e8d426de59e80031cdebdc7
https://doi.org/10.1681/asn.2016111163
https://doi.org/10.1681/asn.2016111163
Publikováno v:
IUPHAR/BPS Guide to Pharmacology CITE. 2019
Acid-sensing ion channels (ASICs, nomenclature as agreed by NC-IUPHAR [35]) are members of a Na+ channel superfamily that includes the epithelial Na+ channel (ENaC), the FMRF-amide activated channel (FaNaC) of invertebrates, the degenerins (DEG) of C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::74f3a960f233da67954b90212a708e5e
https://doi.org/10.2218/gtopdb/f118/2019.4
https://doi.org/10.2218/gtopdb/f118/2019.4
Autor:
Thierry Buclin, Eva Choong, Laurent Schild, Aimable Nahimana, Nicolas Faller, Loïc Sottas, Laurent A. Decosterd, Jaurès Blanc Mettral, Sandra Cruchon
Publikováno v:
Drug metabolism letters. 13(2)
Background: Cancer cells undergo genetic and environmental changes that can alter cellular disposition of drugs, notably by alterations of transmembrane drug transporters expression. Whether the influx organic cation transporter 1 (OCT1) encoded by t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f6ca5eb10ee2838955655210eb2493d
https://pubmed.ncbi.nlm.nih.gov/30734690
https://pubmed.ncbi.nlm.nih.gov/30734690
Autor:
Stephan Kellenberger, Laurent Schild
Publikováno v:
Pharmacological Reviews
Pharmacol Rev.
Pharmacol Rev.
The epithelial Na(+) channel (ENaC) and the acid-sensing ion channels (ASICs) form subfamilies within the ENaC/degenerin family of Na(+) channels. ENaC mediates transepithelial Na(+) transport, thereby contributing to Na(+) homeostasis and the mainte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8e2423a0060b55c42a3816ec59ec878
Autor:
Mahdi, Salih, Ivan, Gautschi, Miguel X, van Bemmelen, Michael, Di Benedetto, Alice S, Brooks, Dorien, Lugtenberg, Laurent, Schild, Ewout J, Hoorn
Publikováno v:
Journal of the American Society of Nephrology : JASN. 28(11)
Liddle syndrome is an autosomal dominant form of hypokalemic hypertension due to mutations in the β- or γ-subunit of the epithelial sodium channel (ENaC). Here, we describe a family with Liddle syndrome due to a mutation in αENaC. The proband was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::211fa29430eed6245d916af7df9740b9
https://pubmed.ncbi.nlm.nih.gov/28710092
https://pubmed.ncbi.nlm.nih.gov/28710092