Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Hypercalciuria/genetics"'
Autor:
Christian Siebold, Treena Cranston, Hannah Boon, Tomas Malinauskas, Morten Frost, Fadil M. Hannan, E. Yvonne Jones, Caroline M Gorvin, Rajesh V. Thakker
Publikováno v:
Human Molecular Genetics
HUMAN MOLECULAR GENETICS
Gorvin, C M, Frost, M, Malinauskas, T, Cranston, T, Boon, H, Siebold, C, Yvonne Jones, E, Hannan, F M & Thakker, R V 2018, ' Calcium-sensing receptor residues with loss-and gain-of-function mutations are located in regions of conformational change and cause signalling bias ', Human Molecular Genetics, vol. 27, no. 21, pp. 3720–3733 . https://doi.org/10.1093/hmg/ddy263
HUMAN MOLECULAR GENETICS
Gorvin, C M, Frost, M, Malinauskas, T, Cranston, T, Boon, H, Siebold, C, Yvonne Jones, E, Hannan, F M & Thakker, R V 2018, ' Calcium-sensing receptor residues with loss-and gain-of-function mutations are located in regions of conformational change and cause signalling bias ', Human Molecular Genetics, vol. 27, no. 21, pp. 3720–3733 . https://doi.org/10.1093/hmg/ddy263
The calcium-sensing receptor (CaSR) is a homodimeric G-protein-coupled receptor that signals via intracellular calcium (Ca 2+ i ) mobilisation and phosphorylation of extracellular signal-regulated kinase 1/2 (ERK) to regulate extracellular calcium (C
Autor:
Andreas Pasch, Felix J. Frey, Olivier Bonny, Yoshiro Suzuki, Markus G. Mohaupt, Matthias A. Hediger
Publikováno v:
Human molecular genetics
Human Molecular Genetics, vol. 17, no. 11, pp. 1613-1618
Suzuki, Yoshiro; Pasch, Andreas; Bonny, Olivier; Mohaupt, Markus G; Hediger, Matthias A; Frey, Felix J (2008). Gain-of-function haplotype in the epithelial calcium channel TRPV6 is a risk factor for renal calcium stone formation. Human molecular genetics, 17(11), pp. 1613-8. Oxford: Oxford University Press 10.1093/hmg/ddn048
Human Molecular Genetics, vol. 17, no. 11, pp. 1613-1618
Suzuki, Yoshiro; Pasch, Andreas; Bonny, Olivier; Mohaupt, Markus G; Hediger, Matthias A; Frey, Felix J (2008). Gain-of-function haplotype in the epithelial calcium channel TRPV6 is a risk factor for renal calcium stone formation. Human molecular genetics, 17(11), pp. 1613-8. Oxford: Oxford University Press 10.1093/hmg/ddn048
The rate-limiting step of dietary calcium absorption in the intestine requires the brush border calcium entry channel TRPV6. The TRPV6 gene was completely sequenced in 170 renal calcium stone patients. The frequency of an ancestral TRPV6 haplotype co
Autor:
Michelle Muller, Eiske M. Dorresteijn, Marinus A. van den Dorpel, Jeroen H. F. de Baaij, Nine V A M Knoers, Joost G. J. Hoenderop, René J. M. Bindels, Eric A. M. Hennekam, Olivier Devuyst, Erik-Jan Kamsteeg, Rowdy Meijer, Karin Dahan
Publikováno v:
Nephrology Dialysis Transplantation, 30(6), 952-957. Oxford University Press
Nephrology, Dialysis, Transplantation, 30(6), 952-957. Oxford University Press
Nephrology Dialysis Transplantation, 30(6), 952. Oxford University Press
Nephrology, Dialysis, Transplantation, 30, 952-7
Nephrology, Dialysis, Transplantation, 30, 6, pp. 952-7
Nephrology, Dialysis, Transplantation, 30(6), 952-957. Oxford University Press
Nephrology Dialysis Transplantation, 30(6), 952. Oxford University Press
Nephrology, Dialysis, Transplantation, 30, 952-7
Nephrology, Dialysis, Transplantation, 30, 6, pp. 952-7
Contains fulltext : 153826.pdf (Publisher’s version ) (Closed access) BACKGROUND: Magnesium (Mg(2+)) is an essential ion for cell growth, neuroplasticity and muscle contraction. Blood Mg(2+) levels
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::684317e1b7ed13588743c2fb00e0005f
https://pure.eur.nl/en/publications/955161a0-fd32-430e-875c-80b232b1a90a
https://pure.eur.nl/en/publications/955161a0-fd32-430e-875c-80b232b1a90a