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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: himmerkus n. Nephron Physiol. 2012;122(1-2):1-6. doi: 10.1159/000349989. Epub 2013 Feb 23. Nephron Physiol. 2012. PMID: 23434854 Free PMC article.
Calcium regulation of tight junction permeability.
Bleich M, Shan Q, Himmerkus N. Bleich M, et al. Among authors: himmerkus n. Ann N Y Acad Sci. 2012 Jul;1258:93-9. doi: 10.1111/j.1749-6632.2012.06539.x. Ann N Y Acad Sci. 2012. PMID: 22731721 Review.
Heterogeneity of tight junctions in the thick ascending limb.
Bleich M, Wulfmeyer VC, Himmerkus N, Milatz S. Bleich M, et al. Among authors: himmerkus n. Ann N Y Acad Sci. 2017 Oct;1405(1):5-15. doi: 10.1111/nyas.13400. Epub 2017 Jun 19. Ann N Y Acad Sci. 2017. PMID: 28628195 Review.
66 results