Utility of Whole Genome Sequencing in diagnosing complex disorders: lesson from renal tubular disorders

Autor: Jenny C. Taylor, Mark Stevenson, Judith A Savige, Heather G Mack, David A. McCredie, Kate E Lines, Rajesh Thakker, Alistair T Pagnamenta

Publikováno v: Endocrine Abstracts.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c8e59b5b97c9af408c8d50e0e1ffd6c0
https://doi.org/10.1530/endoabs.59.p052

Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

Autor: Colin A. Johnson, Ariane Berdal, Craig B. Langman, Detlef Bockenhauer, P. Suzanne Hart, Alan J. Mighell, Pascal Houillier, Marie-Claude Addor, Denise Ruehmann, Naomi Issler, Alain Verloes, Arnaud Picard, Audrey Asselin, Gwenaelle Roussey, Mickael Quentric, Virginie Laugel, Cédric Le Caignec, H.P.N. Safatle, David A. McCredie, Hercílio Martelli-Júnior, Robert Kleta, Enriko Klootwijk, Thomas C. Hart, Agnès Bloch-Zupan, Miikka Vikkula, Toshiyasu Koike, Marie Lucile Figueres, Bertrand Isidor, Ricardo D. Coletta, Ana Carolina Acevedo, Sandra Gruessel, Hiroshi Kitagawa, Emmanuelle Ginglinger, James A. Poulter, Anita Rauch, Sue Povey, Ute Neugebauer, Graciana Jaureguiberry, Deborah Bartholdi, Stephen B. Walsh, Alexander J. Howie, Muriel De La Dure-Molla, Julien Guiol, Chris F. Inglehearn, Eberhard Schlatter, Jeremy K. Nicholson, Vaksha Patel, Markus Bleich, Robert J. Unwin, Matthieu Schmittbuhl, François Clauss, Horia Stanescu, Clare V. Logan, Steven J. Scheinman, Sandra Pajarola, Pedro E. Dos Santos Netos, Nina Himmerkus, Alan Medlar, Giuseppina Spartà, David A. Parry, Chris Laing, Aurore Coulomb, Suhaila Al-Bahlani, Carolin Sandmann, Isabelle Bailleul-Forestier, Paulo Marcio Yamaguti, Didem Ozdemir-Ozenen, Roger C. Shore, William A. Gahl, Mathilde Huckert, Steven L. Robinette

Publikováno v: Nephron. Physiology
Nephron. Physiology, vol. 122, no. 1-2, pp. 1-6

Background/Aims: Calcium homeostasis requires regulated cellular and interstitial systems interacting to modulate the activity and movement of this ion. Disruption of these systems in the kidney results in nephrocalcinosis and nephrolithiasis, import

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66a9da0d46a0cce56715c53f3a9ed3b8
https://doi.org/10.1159/000349989

Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites

Autor: M. Andrew Nesbit, Sherida E. Tollefsen, Edward M. Brown, Rajesh V. Thakker, David A. McCredie, Paul T. Christie, Christine Rodda, Nicola Bridges, Alan J. Curley, Fadil M. Hannan, Christine P Burren, Jeremy Turner, Heike Jung, Jenny J. Yang, Eileen Marks, Treena Cranston, Chen Zhang, Roger Bouillon, Brian Harding, Caroline Brain, John M. C. Connell, Manuel C. Lemos, Michael R. Bowl, Nigel Rust, Zulf Mughal, Carl Fratter

Publikováno v: Human Molecular Genetics. 21:2768-2778

The calcium-sensing receptor (CaSR) is a G-protein-coupled receptor that has an extracellular bilobed venus flytrap domain (VFTD) predicted to contain five calcium (Ca(2+))-binding sites. To elucidate the structure-function relationships of the VFTD,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e073aa0b0b3063c4539b9edf75e14e8
https://doi.org/10.1093/hmg/dds105

Towards an epidemiologic definition of renal disease: Rates and associations of albuminuria in a high-risk Australian Aboriginal community

Autor: David A. McCredie, Kate A. Walker, Robert J. Norman, Zhiqiang Wang, Megan Rees, David J Pugsley, Emma Kile, Wendy E. Hoy, John D. Mathews, R McFarlane, B. Hayhurst

Publikováno v: Nephrology. 4:S59-S65

An epidemic of renal failure is accompanying the rising rates of hypertension, type 2 diabetes and cardiovascular disease among Aborigines in the Northern Territory of Australia. The rates and associations of the underlying renal disease were studied

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3995faa032111f7490eff762be64f069
https://doi.org/10.1111/j.1440-1797.1998.tb00474.x

Familial hypomagnesaemia ? hypercalciuria leading to end-stage renal failure

Autor: Harley R. Powell, James C. Nicholson, David A. McCredie, Rowan G. Walker, Colin L. Jones

Publikováno v: Pediatric Nephrology. 9:74-76

Several disorders of hypomagnesaemia of hetary renal origin are now recognised. The cases of two sisters from a consanguineous marriage with the syndrome of renal magnesium wasting, hypercalciuria and nephrocalcinosis are presented. Pathological exam

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6166cfe69ad98a3e3164d8c83a0fcce8
https://doi.org/10.1007/bf00858976