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Page 1
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
Jaureguiberry G, De la Dure-Molla M, Parry D, Quentric M, Himmerkus N, Koike T, Poulter J, Klootwijk E, Robinette SL, Howie AJ, Patel V, Figueres ML, Stanescu HC, Issler N, Nicholson JK, Bockenhauer D, Laing C, Walsh SB, McCredie DA, Povey S, Asselin A, Picard A, Coulomb A, Medlar AJ, Bailleul-Forestier I, Verloes A, Le Caignec C, Roussey G, Guiol J, Isidor B, Logan C, Shore R, Johnson C, Inglehearn C, Al-Bahlani S, Schmittbuhl M, Clauss F, Huckert M, Laugel V, Ginglinger E, Pajarola S, Spartà G, Bartholdi D, Rauch A, Addor MC, Yamaguti PM, Safatle HP, Acevedo AC, Martelli-Júnior H, dos Santos Netos PE, Coletta RD, Gruessel S, Sandmann C, Ruehmann D, Langman CB, Scheinman SJ, Ozdemir-Ozenen D, Hart TC, Hart PS, Neugebauer U, Schlatter E, Houillier P, Gahl WA, Vikkula M, Bloch-Zupan A, Bleich M, Kitagawa H, Unwin RJ, Mighell A, Berdal A, Kleta R. Jaureguiberry G, et al. Among authors: schlatter e. Nephron Physiol. 2012;122(1-2):1-6. doi: 10.1159/000349989. Epub 2013 Feb 23. Nephron Physiol. 2012. PMID: 23434854 Free PMC article.
The kidney-specific expression of genes can be modulated by the extracellular osmolality.
Schulze Blasum B, Schröter R, Neugebauer U, Hofschröer V, Pavenstädt H, Ciarimboli G, Schlatter E, Edemir B. Schulze Blasum B, et al. Among authors: schlatter e. FASEB J. 2016 Oct;30(10):3588-3597. doi: 10.1096/fj.201600319R. Epub 2016 Jul 27. FASEB J. 2016. PMID: 27464968
-Schulze Blasum, B., Schroter, R., Neugebauer, U., Hofschroer, V., Pavenstadt, H., Ciarimboli, G., Schlatter E., Edemir, B. The kidney-specific expression of genes can be modulated by the extracellular osmolality....
-Schulze Blasum, B., Schroter, R., Neugebauer, U., Hofschroer, V., Pavenstadt, H., Ciarimboli, G., Schlatter E., Edemir, B. Th …
Ion channels in the thick ascending limb of Henle's loop.
Greger R, Bleich M, Schlatter E. Greger R, et al. Among authors: schlatter e. Ren Physiol Biochem. 1990 Jan-Apr;13(1-2):37-50. doi: 10.1159/000173346. Ren Physiol Biochem. 1990. PMID: 1689860 Review.
181 results