| Title: |
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations |
| Authors: |
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 |
| Source: |
Nephron Physiology , 122 (1-2) 1 - 6. (2012) |
| Publication Year: |
2012 |
| Collection: |
University College London: UCL Discovery |
| Subject Terms: |
Adolescent; Adult; Amelogenesis imperfecta; Child; Consanguinity; Dental enamel proteins; Exome; Family health; Female; Genes; Recessive; Genetic predisposition to disease; Genome-wide association study; Humans; Male; Middle aged; Mutation; Nephrocalcinosis; Pedigree; Sequence Analysis; DNA; Syndrome; Young Adult |
| Description: |
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, important medical problems whose pathogenesis is incompletely understood. |
| Document Type: |
article in journal/newspaper |
| File Description: |
application/pdf |
| Language: |
English |
| Relation: |
https://discovery.ucl.ac.uk/id/eprint/1388316/1/349989.pdf; https://discovery.ucl.ac.uk/id/eprint/1388316/ |
| Availability: |
https://discovery.ucl.ac.uk/id/eprint/1388316/1/349989.pdf; https://discovery.ucl.ac.uk/id/eprint/1388316/ |
| Rights: |
open |
| Accession Number: |
edsbas.8D4AEEC3 |
| Database: |
BASE |