Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.

Autor: Conall M O'Seaghdha, Hongsheng Wu, Qiong Yang, Karen Kapur, Idris Guessous, Annie Mercier Zuber, Anna Köttgen, Candice Stoudmann, Alexander Teumer, Zoltán Kutalik, Massimo Mangino, Abbas Dehghan, Weihua Zhang, Gudny Eiriksdottir, Guo Li, Toshiko Tanaka, Laura Portas, Lorna M Lopez, Caroline Hayward, Kurt Lohman, Koichi Matsuda, Sandosh Padmanabhan, Dmitri Firsov, Rossella Sorice, Sheila Ulivi, A Catharina Brockhaus, Marcus E Kleber, Anubha Mahajan, Florian D Ernst, Vilmundur Gudnason, Lenore J Launer, Aurelien Mace, Eric Boerwinckle, Dan E Arking, Chizu Tanikawa, Yusuke Nakamura, Morris J Brown, Jean-Michel Gaspoz, Jean-Marc Theler, David S Siscovick, Bruce M Psaty, Sven Bergmann, Peter Vollenweider, Veronique Vitart, Alan F Wright, Tatijana Zemunik, Mladen Boban, Ivana Kolcic, Pau Navarro, Edward M Brown, Karol Estrada, Jingzhong Ding, Tamara B Harris, Stefania Bandinelli, Dena Hernandez, Andrew B Singleton, Giorgia Girotto, Daniela Ruggiero, Adamo Pio d'Adamo, Antonietta Robino, Thomas Meitinger, Christa Meisinger, Gail Davies, John M Starr, John C Chambers, Bernhard O Boehm, Bernhard R Winkelmann, Jie Huang, Federico Murgia, Sarah H Wild, Harry Campbell, Andrew P Morris, Oscar H Franco, Albert Hofman, Andre G Uitterlinden, Fernando Rivadeneira, Uwe Völker, Anke Hannemann, Reiner Biffar, Wolfgang Hoffmann, So-Youn Shin, Pierre Lescuyer, Hughes Henry, Claudia Schurmann, SUNLIGHT Consortium, GEFOS Consortium, Patricia B Munroe, Paolo Gasparini, Nicola Pirastu, Marina Ciullo, Christian Gieger, Winfried März, Lars Lind, Tim D Spector, Albert V Smith, Igor Rudan, James F Wilson, Ozren Polasek, Ian J Deary, Mario Pirastu, Luigi Ferrucci, Yongmei Liu, Bryan Kestenbaum, Jaspal S Kooner, Jacqueline C M Witteman, Matthias Nauck, W H Linda Kao, Henri Wallaschofski, Olivier Bonny, Caroline S Fox, Murielle Bochud

Publikováno v: PLoS Genetics, Vol 9, Iss 9, p e1003796 (2013)

Calcium is vital to the normal functioning of multiple organ systems and its serum concentration is tightly regulated. Apart from CASR, the genes associated with serum calcium are largely unknown. We conducted a genome-wide association meta-analysis

Externí odkaz: https://doaj.org/article/9cfd19b7bfd44ee7bca72436fdaf0f47

Increased bone resorption by osteoclast-specific deletion of the sodium/calcium exchanger isoform 1 (NCX1)

Autor: Giuseppe Albano, Candice Stoudmann, Daniel Guido Fuster, Olivier Bonny, Muriel Auberson, Wilhelm Hofstetter, Annie Mercier-Zuber, Mark Siegrist, Silvia Dolder

Publikováno v: Albano, Giuseppe; Dolder, Silvia; Siegrist, Mark; Mercier-Zuber, Annie; Auberson, Muriel; Stoudmann, Candice; Hofstetter, Wilhelm; Bonny, Olivier; Fuster, Daniel Guido (2017). Increased bone resorption by osteoclast-specific deletion of the sodium/calcium exchanger isoform 1 (NCX1). Pflügers Archiv : European journal of physiology, 469(2), pp. 225-233. Springer 10.1007/s00424-016-1923-5

Calcium is a key component of the bone mineral hydroxyapatite. During osteoclast-mediated bone resorption, hydroxyapatite is dissolved and significant quantities of calcium are released. Several calcium transport systems have previously been identifi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c5c362d12f7ff9c88f6a908937418eb
https://pubmed.ncbi.nlm.nih.gov/27942992

Hypertension, Dietary Salt Intake, and the Role of the Thiazide-Sensitive Sodium Chloride Transporter NCCT

Autor: Annie Mercier Zuber, Kevin M O'Shaughnessy, Mark Glover

Publikováno v: Cardiovascular Therapeutics. 29:68-76

A high salt intake in industrialized countries is an important cardiovascular risk factor. It remains at typically twice the maximum recommended levels of 5-6 g/day, and halving this would have enormous public health benefit in preventing stroke and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b6a1409d9eb8fe0e84be6fb64d19efc4
https://doi.org/10.1111/j.1755-5922.2010.00180.x

Molecular clock is involved in predictive circadian adjustment of renal function

Autor: Annie Mercier Zuber, Olivier Bonny, Svetlana Nikolaeva, Sylvain Pradervand, Dmitri Firsov, Gabriel Centeno, Lionel Maquelin, Léonard Cardinaux

Publikováno v: Proceedings of the National Academy of Sciences. 106:16523-16528

Renal excretion of water and major electrolytes exhibits a significant circadian rhythm. This functional periodicity is believed to result, at least in part, from circadian changes in secretion/reabsorption capacities of the distal nephron and collec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94279c091cfc49446c7101c62815c276
https://doi.org/10.1073/pnas.0904890106

An inducible transgenic mouse model for familial hypertension with hyperkalaemia (Gordon's syndrome or pseudohypoaldosteronism type II)

Autor: Kevin M. O'Shaughnessy, Annie Mercier Zuber, Che-Hsiung Liu, Jabed A. Chowdhury

Publikováno v: Clinical science (London, England : 1979). 124(12)

Mutations in the novel serine/threonine WNK [With No lysine (=K)] kinases WNK1 and WNK4 cause PHAII (pseudohypoaldosteronism type II or Gordon's syndrome), a rare monogenic syndrome which causes hypertension and hyperkalaemia on a background of a nor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::917f5a9ef5fb1cb056d580c8ca1c1fbf
https://pubmed.ncbi.nlm.nih.gov/23336180