Zobrazeno 1 - 10
of 69
pro vyhledávání: '"Liddle Syndrome/genetics"'
Autor:
Warnock, David G. *
Publikováno v:
In The American Journal of the Medical Sciences December 2001 322(6):302-307
Autor:
David G. Warnock
Publikováno v:
The American Journal of the Medical Sciences. 322:302-307
Our current understanding of Na + transport defects has been greatly expanded over the last several years and has provided new insights into unusual clinical syndromes resulting from mutations of specific ion transporters. These genetic disorders aff
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::201a6265c4b2d37045189ce16f42ad7a
https://doi.org/10.1097/00000441-200112000-00002
https://doi.org/10.1097/00000441-200112000-00002
Autor:
Caroline Ronzaud, Natasha A. Boase, Johannes Loffing, Baoli Yang, Romain Perrier, Nicole Fowler-Jaeger, Edith Hummler, Dominique Loffing-Cueni, Sumedha Malsure, Marc Maillard, Sharad Kumar, Pierrette Hausel, Olivier Staub, Robert Koesters, Anne Debonneville, John B. Stokes
Publikováno v:
JOURNAL OF CLINICAL INVESTIGATION
The Journal of clinical investigation
Journal of Clinical Investigation, vol. 123, no. 2, pp. 657-665
The Journal of clinical investigation
Journal of Clinical Investigation, vol. 123, no. 2, pp. 657-665
The E3 ubiquitin ligase NEDD4-2 (encoded by the Nedd4L gene) regulates the amiloride-sensitive epithelial Na+ channel (ENaC/SCNN1) to mediate Na+ homeostasis. Mutations in the human β/γENaC subunits that block NEDD4-2 binding or constitutive ablati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f6aca30dd9502628d1136dbf02e2ac2
https://hdl.handle.net/1959.8/155486
https://hdl.handle.net/1959.8/155486
Autor:
Schwarz, Christoph, Lindner, Gregor
Publikováno v:
Austrian Journal of Clinical Endocrinology & Metabolism / Journal für Klinische Endokrinologie & Stoffwechsel; Jun2024, Vol. 17 Issue 2, p42-57, 16p
Autor:
Khandelwal, Priyanka1 drpriyanka8588@gmail.com, Deinum, Jaap2
Publikováno v:
Pediatric Nephrology. Jul2022, Vol. 37 Issue 7, p1495-1509. 15p. 2 Diagrams, 3 Charts.
Publikováno v:
Antioxidants & Redox Signaling; Feb2022, Vol. 36 Issue 4-6, p220-243, 24p
Autor:
Zhang, Jianing1, Chen, Shuo1, Liu, Huibin1, Zhang, Bingkun1, Zhao, Ying1, Ma, Ke1, Zhao, Dan1, Wang, Qiushi1, Ma, Heping2 heping.ma@emory.edu, Zhang, Zhiren1 zhirenz@yahoo.com
Publikováno v:
PLoS ONE. May2013, Vol. 8 Issue 5, p1-9. 9p.
Autor:
Bhavani, Nisha1 nishab@aims.amrita.edu
Publikováno v:
Indian Journal of Endocrinology & Metabolism. Oct2011 Supplement, pS361-S366. 6p.
Autor:
Gupta, Vishal1 enquiry@drvishalgupta.com
Publikováno v:
Indian Journal of Endocrinology & Metabolism. Oct2011 Supplement, pS298-S312. 15p.
Autor:
Amar, Laurence1, Plouin, Pierre-François1 pierre-francois.plouin@egp.aphp.fr, Steichen, Olivier2
Publikováno v:
Orphanet Journal of Rare Diseases. 2010, Vol. 5, p9-20. 12p.