John Sayer
John Sayer
Professor of Renal Medicine
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The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
JA Sayer, EA Otto, JF O'Toole, G Nurnberg, MA Kennedy, C Becker, ...
Nature genetics 38 (6), 674-681, 2006
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin
EA Otto, B Loeys, H Khanna, J Hellemans, R Sudbrak, S Fan, U Muerb, ...
Nature genetics 37 (3), 282-288, 2005
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse
B Chang, H Khanna, N Hawes, D Jimeno, S He, C Lillo, SK Parapuram, ...
Human molecular genetics 15 (11), 1847-1857, 2006
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling
M Chaki, R Airik, AK Ghosh, RH Giles, R Chen, GG Slaats, H Wang, ...
Cell 150 (3), 533-548, 2012
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis
M Attanasio, NH Uhlenhaut, VH Sousa, JF O'Toole, E Otto, K Anlag, ...
Nature genetics 39 (8), 1018-1024, 2007
Expression analyses and interaction with the anaphase promoting complex protein Apc2 suggest a role for inversin in primary cilia and involvement in the cell cycle
D Morgan, L Eley, J Sayer, T Strachan, LM Yates, AS Craighead, ...
Human molecular genetics 11 (26), 3345-3350, 2002
Nephrocalcinosis: molecular insights into calcium precipitation within the kidney
Clinical science 106 (6), 549-561, 2004
Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis
J Halbritter, M Baum, AM Hynes, SJ Rice, DT Thwaites, ZS Gucev, ...
Journal of the American Society of Nephrology 26 (3), 543-551, 2015
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior–Løken syndrome
J Helou, EA Otto, M Attanasio, SJ Allen, MA Parisi, I Glass, B Utsch, ...
Journal of medical genetics 44 (10), 657-663, 2007
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy
JF O’Toole, Y Liu, EE Davis, CJ Westlake, M Attanasio, EA Otto, D Seelow, ...
The Journal of clinical investigation 120 (3), 791-802, 2010
Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis
MTF Wolf, S Saunier, JF O'Toole, N Wanner, T Groshong, M Attanasio, ...
Kidney international 72 (12), 1520-1526, 2007
Evidence of digenic inheritance in Alport syndrome
MA Mencarelli, L Heidet, H Storey, M Van Geel, B Knebelmann, ...
Journal of medical genetics 52 (3), 163-174, 2015
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus‐specific database
M Bower, R Salomon, J Allanson, C Antignac, F Benedicenti, E Benetti, ...
Human mutation 33 (3), 457-466, 2012
Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome
B Utsch, JA Sayer, M Attanasio, RR Pereira, M Eccles, HC Hennies, ...
Pediatric Nephrology 21 (1), 32-35, 2006
A meckelin–filamin A interaction mediates ciliogenesis
M Adams, RJ Simms, Z Abdelhamed, HR Dawe, K Szymanska, CV Logan, ...
Human molecular genetics 21 (6), 1272-1286, 2012
Genetic and physical interaction between the NPHP5 and NPHP6 gene products
T Schäfer, M Pütz, S Lienkamp, A Ganner, A Bergbreiter, ...
Human molecular genetics 17 (23), 3655-3662, 2008
A role for CBS domain 2 in trafficking of chloride channel CLC-5
G Carr, N Simmons, J Sayer
Biochemical and biophysical research communications 310 (2), 600-605, 2003
Prevalence of monogenic causes in pediatric patients with nephrolithiasis or nephrocalcinosis
DA Braun, JA Lawson, HY Gee, J Halbritter, S Shril, W Tan, D Stein, ...
Clinical Journal of the American Society of Nephrology 11 (4), 664-672, 2016
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone
EC Roberson, WE Dowdle, A Ozanturk, FR Garcia-Gonzalo, C Li, ...
Journal of Cell Biology 209 (1), 129-142, 2015
Naturally occurring antisense RNA: function and mechanisms of action
A Werner, JA Sayer
Current opinion in nephrology and hypertension 18 (4), 343-349, 2009
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Artículos 1–20