| Title | Authors (identified) | Published In | Identifier(s) | Topic | Published Date |
|---|
| End-Stage Kidney Failure in Oman: An Analysis of Registry Data with an Emphasis on Congenital and Inherited Renal Diseases | [1]Intisar Al Alawi, [2]Issa Al Salmi, [3]Adhra Al-Mawali, [4]Yacoub Al Maimani, [5]John A. Sayer [Full author list] | International Journal of Nephrology [curation] | DOI: 10.1155/2017/6403985
PubMed: 28685101 | Oman [curation]; kidney failure [curation]; congenital disorder [curation] | 2017-06-08 |
| From disease modelling to personalised therapy in patients with CEP290 mutations | [1]Elisa Molinari, [2]Shalabh Srivastava, [3]John A. Sayer, [4]Simon A Ramsbottom [Full author list] | F1000Research [curation] | DOI: 10.12688/F1000RESEARCH.11553.1
PubMed: 28690834 | | 2017-05-12 |
| Case Report: Making a diagnosis of familial renal disease - clinical and patient perspectives | [1]Zahra Iqbal, [2]John A. Sayer [Full author list] | F1000Research [curation] | DOI: 10.12688/F1000RESEARCH.11316.1
PubMed: 28580132 | | 2017-04-12 |
| Mutations in mitochondrial DNA causing tubulointerstitial kidney disease | [1]Thomas M Connor, [2]Simon Hoer, [3]Andrew Mallett, [4]Daniel P Gale, [5]Aurora Gomez-Duran, [6]Viktor Posse, [7]Robin Antrobus, [8]Pablo Moreno, [9]Marco Sciacovelli, [10]Christian Frezza, [11]Jennifer Duff, [12]Neil S Sheerin, [13]John A. Sayer, [14]Margaret Ashcroft, [15]Michael S Wiesener, [16]Gavin Hudson, [17]Claes M. Gustafsson, [18]Patrick F. Chinnery, [19]Patrick H. Maxwell [Full author list] | PLOS Genetics [curation] | DOI: 10.1371/JOURNAL.PGEN.1006620
PubMed: 28267784 | mitochondrial DNA [curation] | 2017-03-07 |
| Mutations in SLC26A1 Cause Nephrolithiasis | [1]Heon Yung Gee, [2]Ikhyun Jun, [3]Daniela A Braun, [4]Jennifer A Lawson, [5]Jan Halbritter, [6]Shirlee Shril, [7]Caleb P Nelson, [8]Weizhen Tan, [9]Deborah Stein, [10]Ari J. Wassner, [11]Michael A Ferguson, [12]Zoran Gucev, [13]John A. Sayer, [14]Danko Milosevic, [15]Michelle Baum, [16]Velibor Tasic, [17]Min Goo Lee, [18]Friedhelm Hildebrandt [Full author list] | American Journal of Human Genetics [curation] | DOI: 10.1016/J.AJHG.2016.03.026
PubMed: 27210743 | | 2016-05-18 |
| Case Report: Cervical chondrocalcinosis as a complication of Gitelman syndrome | [1]Zahra Iqbal, [2]Paul Mead, [3]John A. Sayer [Full author list] | F1000Research [curation] | DOI: 10.12688/F1000RESEARCH.8732.1
PubMed: 27303630 | | 2016-05-12 |
| Chondrocalcinosis and Gitelman syndrome | [1]Z Iqbal, [2]John A. Sayer [Full author list] | QJM: An International Journal of Medicine [curation] | DOI: 10.1093/QJMED/HCW045
PubMed: 27026693 | | 2016-03-29 |
| Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel | [1]Mohamed H Al-Hamed, [2]Wesam Kurdi, [3]Nada Alsahan, [4]Zainab Alabdullah, [5]Rania Abudraz, [6]Maha Tulbah, [7]Maha Alnemer, [8]Rubina Khan, [9]Haya Al-Jurayb, [10]Ahmed Alahmed, ..., [21]Dorota Monies, [22]Brian Meyer, [23]John A. Sayer, [24]Mamdouh Albaqumi [Full author list] | Journal of Medical Genetics [curation] | DOI: 10.1136/JMEDGENET-2015-103469
PubMed: 26862157 | ciliopathy [curation]; cystic kidney disease [curation] | 2016-02-09 |
| Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis | [1]Daniela A Braun, [2]Jennifer Ashley Lawson, [3]Heon Yung Gee, [4]Jan Halbritter, [5]Shirlee Shril, [6]Weizhen Tan, [7]Deborah Stein, [8]Ari J. Wassner, [9]Michael A Ferguson, [10]Zoran Gucev, [11]Brittany Fisher, [12]Leslie Spaneas, [13]Jennifer D Varner, [14]John A. Sayer, [15]Danko Milosevic, [16]Michelle Baum, [17]Velibor Tasic, [18]Friedhelm Hildebrandt [Full author list] | Clinical Journal of the American Society of Nephrology [curation] | DOI: 10.2215/CJN.07540715
PubMed: 26787776 | | 2016-01-19 |
| Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity | [1]Daniela A Braun, [2]Markus Schueler, [3]Jan Halbritter, [4]Heon Yung Gee, [5]Jonathan D Porath, [6]Jennifer Lawson, [7]Rannar Airik, [8]Shirlee Shril, [9]Susan J Allen, [10]Deborah Stein, ..., [15]Fatih Ozaltin, [16]Seema Hashmi, [17]John A. Sayer, [18]Detlef Bockenhauer, [19]Neveen A. Soliman, ... [Full author list] | Kidney International [curation] | DOI: 10.1038/KI.2015.317
PubMed: 26489029 | | 2015-10-21 |
| Murine Cep290 phenotypes are modified by genetic backgrounds and provide an impetus for investigating disease modifier alleles | [1]Simon A Ramsbottom, [2]Colin Miles, [3]John A. Sayer [Full author list] | F1000Research [curation] | DOI: 10.12688/F1000RESEARCH.6959.1
PubMed: 26594343 | | 2015-08-20 |
| Successful treatment of hypercalcaemia associated with a CYP24A1 mutation with fluconazole | [1]Judith Sayers, [2]Ann Marie Hynes, [3]Shalabh Srivastava, [4]Frances Dowen, [5]Richard Quinton, [6]Harish K Datta, [7]John A. Sayer [Full author list] | Clinical kidney journal / an academic journal of the ERA-EDTA (European Renal Association - European Dialysis and Transplant Association) [curation] | DOI: 10.1093/CKJ/SFV028
PubMed: 26251716 | | 2015-05-25 |
| Yersinia pseudotuberculosis aortitis in a patient with diverticulosis and polycystic kidney disease | [1]Sarah McCloskey, [2]Philip Haslam, [3]David A Price, [4]John A. Sayer [Full author list] | Oxford medical case reports [curation] | DOI: 10.1093/OMCR/OMV032
PubMed: 26634143 | Yersinia pseudotuberculosis [curation] | 2015-04-21 |
| Functional modelling of a novel mutation in BBS5 | [1]Mohamed H Al-Hamed, [2]Charles van Lennep, [3]Ann Marie Hynes, [4]Paul Chrystal, [5]Lorraine Eley, [6]Fatimah Al-Fadhly, [7]Riham El Sayed, [8]Roslyn J Simms, [9]Brian Meyer, [10]John A. Sayer [Full author list] | Cilia [curation] | DOI: 10.1186/2046-2530-3-3
PubMed: 24559376 | Bardet-Biedl syndrome 5 [curation] | 2014-02-21 |
| A novel CLDN16 mutation in a large family with familial hypomagnesaemia with hypercalciuria and nephrocalcinosis | [1]Asma Deeb, [2]Salima Atia Abood, [3]Job Simon, [4]Hormazdiar Dastoor, [5]Simon Pearce, [6]John A. Sayer [Full author list] | BMC Research Notes [curation] | DOI: 10.1186/1756-0500-6-527
PubMed: 24321194 | | 2013-12-10 |
| Identification of compound heterozygous KCNJ1 mutations (encoding ROMK) in a kindred with Bartter's syndrome and a functional analysis of their pathogenicity | [1]Shalabh Srivastava, [2]Dimin Li, [3]Noel Edwards, [4]Ann-M Hynes, [5]Katrina Wood, [6]Mohamed Al-Hamed, [7]Anna C Wroe, [8]David Reaich, [9]Shabbir M. Moochhala, [10]Paul A Welling, [11]John A. Sayer [Full author list] | Physiological Reports [curation] | DOI: 10.1002/PHY2.160
PubMed: 24400161 | heterozygosity [curation] | 2013-11-19 |
| A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation | [1]Jennifer Adam, [2]Andrew C Browning, [3]Daniela Vaideanu, [4]Laurence Heidet, [5]Judith A Goodship, [6]John A. Sayer [Full author list] | Clinical kidney journal / an academic journal of the ERA-EDTA (European Renal Association - European Dialysis and Transplant Association) [curation] | DOI: 10.1093/CKJ/SFT058
PubMed: 27293569 | renal coloboma syndrome [curation] | 2013-06-23 |
| Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome | [1]Yu-Zhu Cheng, [2]Lorraine Eley, [3]Ann-Marie Hynes, [4]Lynne M Overman, [5]Roslyn J Simms, [6]Amy Barker, [7]Helen R Dawe, [8]Susan Lindsay, [9]John A. Sayer [Full author list] | PLOS One [curation] | DOI: 10.1371/JOURNAL.PONE.0044975
PubMed: 23028714 | Joubert syndrome [curation] | 2012-09-24 |
| Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling | [1]Moumita Chaki, [2]Rannar Airik, [3]Amiya K Ghosh, [4]Rachel H Giles, [5]Rui Chen, [6]Gisela G Slaats, [7]Hui Wang, [8]Toby Hurd, [9]Weibin Zhou, [10]Andrew Cluckey, ..., [26]Gerd Walz, [27]Lorraine Eley, [28]John A. Sayer, [29]Bernhard Schermer, [30]Max Christoph Liebau, ... [Full author list] | Cell [curation] | DOI: 10.1016/J.CELL.2012.06.028
PubMed: 22863007 | DNA damage [curation]; Coiled-coil domain containing 92 [curation] | 2012-08-03 |
| A meckelin-filamin A interaction mediates ciliogenesis | [1]Matthew Adams, [2]Roslyn J Simms, [3]Zakia Abdelhamed, [4]Helen R Dawe, [5]Katarzyna Szymanska, [6]Clare Victoria Logan, [7]Gabrielle Wheway, [8]Eva Pitt, [9]Keith Gull, [10]Margaret A Knowles, [11]Edward Blair, [12]Sally H Cross, [13]John A. Sayer, [14]Colin A Johnson [Full author list] | Human Molecular Genetics [curation] | DOI: 10.1093/HMG/DDR557
PubMed: 22121117 | filamin binding [curation]; cilium assembly [curation]; Filamin A [curation]; Transmembrane protein 67 [curation]; Transmembrane protein 67 [curation] | 2012-03-15 |
| Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database | [1]Matthew Bower, [2]Rémi Salomon, [3]Judith Allanson, [4]Corinne Antignac, [5]Francesco Benedicenti, [6]Elisa Benetti, [7]Gil Binenbaum, [8]Uffe Birk Jensen, [9]Pierre Cochat, [10]Stephane DeCramer, ..., [30]Sujatha Sastry, [31]Tadashi Sato, [32]John A. Sayer, [33]Gerard C P Schaafsma, [34]Lawrence Shoemaker, ... [Full author list] | Human Mutation [curation] | DOI: 10.1002/HUMU.22020
PubMed: 22213154 | database [curation]; renal coloboma syndrome [curation] | 2012-01-31 |
| Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development | [1]Roslyn J Simms, [2]Ann Marie Hynes, [3]Lorraine Eley, [4]David Inglis, [5]Bill Chaudhry, [6]Helen R Dawe, [7]John A. Sayer [Full author list] | Cellular and Molecular Life Sciences [curation] | DOI: 10.1007/S00018-011-0826-Z
PubMed: 21959375 | brain [curation]; ciliopathy [curation]; Jouberin [curation] | 2011-09-29 |
| Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, and CKD | [1]Bodo B Beck, [2]Howard Trachtman, [3]Michael Gitman, [4]Ilene Miller, [5]John A. Sayer, [6]Andrea Pannes, [7]Anne Baasner, [8]Friedhelm Hildebrandt, [9]Matthias T F Wolf [Full author list] | American Journal of Kidney Diseases [curation] | DOI: 10.1053/J.AJKD.2011.06.029
PubMed: 21903317 | | 2011-09-08 |
| Senior-Loken syndrome secondary to NPHP5/IQCB1 mutation in an Iranian family | [1]Alireza Haghighi, [2]Mohamed Al-Hamed, [3]Safa Al-Hissi, [4]Ann-Marie Hynes, [5]Maryam Sharifian, [6]Jamshid Roozbeh, [7]Nasrollah Saleh-Gohari, [8]John A. Sayer [Full author list] | NDT Plus [curation] | DOI: 10.1093/NDTPLUS/SFR096
PubMed: 25984213 | Senior-Loken syndrome [curation] | 2011-08-18 |
| Nephronophthisis: a genetically diverse ciliopathy | [1]Roslyn J Simms, [2]Ann Marie Hynes, [3]Lorraine Eley, [4]John A. Sayer [Full author list] | International Journal of Nephrology [curation] | DOI: 10.4061/2011/527137
PubMed: 21660307 | ciliopathy [curation] | 2011-05-15 |
| Clinical and functional characterization of URAT1 variants | [1]Velibor Tasic, [2]Ann Marie Hynes, [3]Kenichiro Kitamura, [4]Hae Il Cheong, [5]Vladimir J Lozanovski, [6]Zoran Gucev, [7]Promsuk Jutabha, [8]Naohiko Anzai, [9]John A. Sayer [Full author list] | PLOS One [curation] | DOI: 10.1371/JOURNAL.PONE.0028641
PubMed: 22194875 | | 2011-01-01 |
| Primary hyperparathyroidism: just how 'primary' is it really? | [1]Richard Quinton, [2]Stephen G Ball, [3]John A. Sayer, [4]Simon Pearce [Full author list] | Therapeutic advances in endocrinology and metabolism [curation] | DOI: 10.1177/2042018810389646
PubMed: 23148163 | hyperparathyroidism [curation]; primary hyperparathyroidism [curation] | 2010-10-01 |
| A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family | [1]Mohamed Al-Hamed, [2]John A. Sayer, [3]Ibrahim Al-Hassoun, [4]Mohammed A Aldahmesh, [5]Brian Meyer [Full author list] | NDT Plus [curation] | DOI: 10.1093/NDTPLUS/SFQ149
PubMed: 25949463 | nephrotic syndrome [curation] | 2010-08-26 |
| Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy | [1]John F O'Toole, [2]Yangjian Liu, [3]Erica E Davis, [4]Christopher J Westlake, [5]Massimo Attanasio, [6]Edgar A. Otto, [7]Dominik Seelow, [8]Gudrun Nürnberg, [9]Christian Becker, [10]Matti Nuutinen, ..., [42]Judith L van Houten, [43]Agnès Rötig, [44]John A. Sayer, [45]Boris Rolinski, [46]Peter Freisinger, ... [Full author list] | Journal of Clinical Investigation [curation] | DOI: 10.1172/JCI40076
PubMed: 20179356 | mitochondrion [curation]; kidney disease [curation]; protein processing [curation]; X-prolyl aminopeptidase 3 [curation]; X-prolyl aminopeptidase 3, mitochondrial [curation] | 2010-03-01 |
| Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression | [1]Frank Zaucke, [2]Joana M Boehnlein, [3]Sarah Steffens, [4]Roman S Polishchuk, [5]Luca Rampoldi, [6]Andreas Fischer, [7]Andreas Pasch, [8]Christoph W A Boehm, [9]Anne Baasner, [10]Massimo Attanasio, [11]Bernd Hoppe, [12]Helmut Hopfer, [13]Bodo B Beck, [14]John A. Sayer, [15]Friedhelm Hildebrandt, [16]Matthias T F Wolf [Full author list] | Human Molecular Genetics [curation] | DOI: 10.1093/HMG/DDQ077
PubMed: 20172860 | uromodulin [curation]; Uromodulin [curation]; Kinesin family member 3A [curation]; Nephronophthisis 1 (juvenile) homolog (human) [curation] | 2010-02-18 |
| Nephronophthisis | [1]Roslyn J Simms, [2]Lorraine Eley, [3]John A. Sayer [Full author list] | European Journal of Human Genetics [curation] | DOI: 10.1038/EJHG.2008.238
PubMed: 19066617 | nephronophthisis [curation] | 2008-12-10 |
| Genetic and physical interaction between the NPHP5 and NPHP6 gene products | [1]Tobias Schäfer, [2]Michael Pütz, [3]Soeren S Lienkamp, [4]Athina Ganner, [5]Astrid Bergbreiter, [6]Haribaskar Ramachandran, [7]Verena Gieloff, [8]Martin Gerner, [9]Christian Mattonet, [10]Peter G. Czarnecki, [11]John A. Sayer, [12]Edgar A. Otto, [13]Friedhelm Hildebrandt, [14]Albrecht Kramer-Zucker, [15]Gerd Walz [Full author list] | Human Molecular Genetics [curation] | DOI: 10.1093/HMG/DDN260
PubMed: 18723859 | identical protein binding [curation]; Centrosomal protein 290 [curation] | 2008-12-01 |
| Nephrocystin-1 interacts directly with Ack1 and is expressed in human collecting duct | [1]Lorraine Eley, [2]Shabbir M. Moochhala, [3]Roslyn Simms, [4]Friedhelm Hildebrandt, [5]John A. Sayer [Full author list] | Biochemical and Biophysical Research Communications [curation] | DOI: 10.1016/J.BBRC.2008.05.016
PubMed: 18477472 | | 2008-05-12 |
| Emphysematous pyelonephritis leading to end-stage renal failure | [1]Roslyn Simms, [2]Nicholas Torpey, [3]Suren Kanagasundaram, [4]Laura Baines, [5]John A. Sayer [Full author list] | NDT Plus [curation] | DOI: 10.1093/NDTPLUS/SFN002
PubMed: 25983899 | emphysematous pyelonephritis [curation] | 2008-02-14 |
| Multiple thyroid cysts as an extra-renal manifestation of ADPKD | [1]Abdulfattah Alejmi, [2]John A. Sayer [Full author list] | NDT Plus [curation] | DOI: 10.1093/NDTPLUS/SFN004
PubMed: 25983900 | | 2008-02-05 |
| Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis | [1]Massimo Attanasio, [2]N. Henriette Uhlenhaut, [3]Vitor H. Sousa, [4]John F. O'Toole, [5]Edgar A. Otto, [6]Katrin Anlag, [7]Claudia Klugmann, [8]Anna-Corina Treier, [9]Juliana Helou, [10]John A. Sayer, [11]Dominik Seelow, [12]Gudrun Nürnberg, [13]Christian Becker, [14]Albert E Chudley, [15]Peter Nürnberg, [16]Friedhelm Hildebrandt, [17]Mathias Treier [Full author list] | Nature Genetics [curation] | DOI: 10.1038/NG2072
PubMed: 17618285 | apoptotic process [curation]; GLIS family zinc finger 2 [curation] | 2007-08-01 |
| Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome | [1]Juliana Helou, [2]Edgar A. Otto, [3]Massimo Attanasio, [4]Susan J Allen, [5]Melissa A Parisi, [6]Ian Glass, [7]Boris Utsch, [8]Seema Hashmi, [9]Elisa Fazzi, [10]Heymut Omran, [11]John F O'Toole, [12]John A. Sayer, [13]Friedhelm Hildebrandt [Full author list] | Journal of Medical Genetics [curation] | DOI: 10.1136/JMG.2007.052027
PubMed: 17617513 | Joubert syndrome [curation] | 2007-07-06 |
| Expression and localisation of the pyrophosphate transporter, ANK, in murine kidney cells | [1]Georgina Carr, [2]John A. Sayer, [3]Nicholas L Simmons [Full author list] | Cellular Physiology and Biochemistry [curation] | DOI: 10.1159/000107534
PubMed: 17762177 | | 2007-01-01 |
| Acute renal failure from contrast medium: beware patients taking metformin... | [1]John A. Sayer [Full author list] | The BMJ [curation] | DOI: 10.1136/BMJ.333.7569.653-A
PubMed: 16990332 | metformin [curation] | 2006-09-01 |
| The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4 | [1]John A. Sayer, [2]Edgar A. Otto, [3]John F O'Toole, [4]Gudrun Nürnberg, [5]Michael A Kennedy, [6]Christian Becker, [7]Hans Christian Hennies, [8]Juliana Helou, [9]Massimo Attanasio, [10]Blake V Fausett, ... [Full author list] | Nature Genetics [curation] | DOI: 10.1038/NG1786
PubMed: 16682973 | Joubert syndrome [curation]; Activating transcription factor 4 [curation]; Centrosomal protein 290 [curation]; Centrosomal protein 290 [curation] | 2006-06-01 |
| 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 | [1]Bo Chang, [2]Hemant Khanna, [3]Norman Hawes, [4]David Jimeno, [5]Shirley He, [6]Concepción Lillo, [7]Sunil K Parapuram, [8]Hong Cheng, [9]Alison Scott, [10]Ron E Hurd, [11]John A. Sayer, [12]Edgar A. Otto, [13]Massimo Attanasio, [14]John F O'Toole, [15]Genglin Jin, [16]Chengchao Shou, [17]Friedhelm Hildebrandt, [18]David S Williams, [19]John R Heckenlively, [20]Anand Swaroop [Full author list] | Human Molecular Genetics [curation] | DOI: 10.1093/HMG/DDL107
PubMed: 16632484 | retinal degeneration [curation]; Dynactin 1 [curation]; Kinesin family member 3A [curation]; Structural maintenance of chromosomes 1A [curation]; Centrosomal protein 290 [curation]; Retinitis pigmentosa GTPase regulator [curation]; Pericentrin (kendrin) [curation]; Pericentriolar material 1 [curation] | 2006-06-01 |
| Disruption of clc-5 leads to a redistribution of annexin A2 and promotes calcium crystal agglomeration in collecting duct epithelial cells | [1]Carr G, [2]Simmons NL, [3]John A. Sayer [Full author list] | Cellular and Molecular Life Sciences [curation] | DOI: 10.1007/S00018-005-5510-8
PubMed: 16429322 | | 2006-02-01 |
| Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome | [1]Boris Utsch, [2]John A. Sayer, [3]Massimo Attanasio, [4]Rob Rodrigues Pereira, [5]Michael Eccles, [6]Hans-Christian Hennies, [7]Edgar A. Otto, [8]Friedhelm Hildebrandt [Full author list] | Pediatric Nephrology [curation] | DOI: 10.1007/S00467-005-2054-Y
PubMed: 16240161 | Joubert syndrome [curation] | 2006-01-01 |
| Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin | [1]Edgar A. Otto, [2]Bart L Loeys, [3]Hemant Khanna, [4]Jan Hellemans, [5]Ralf Sudbrak, [6]Shuling Fan, [7]Ulla T Muerb, [8]John F O'Toole, [9]Juliana Helou, [10]Massimo Attanasio, [11]Boris Utsch, [12]John A. Sayer, [13]Concepcion Lillo, [14]David Jimeno, ... [Full author list] | Nature Genetics [curation] | DOI: 10.1038/NG1520
PubMed: 15723066 | Senior-Loken syndrome [curation]; maintenance of animal organ identity [curation]; IQ motif containing B1 [curation]; IQ calmodulin-binding motif containing 1 [curation] | 2005-03-01 |
| Nephrocalcinosis: molecular insights into calcium precipitation within the kidney | [1]John A. Sayer, [2]Georgina Carr, [3]Nicholas L Simmons [Full author list] | Clinical Science [curation] | DOI: 10.1042/CS20040048
PubMed: 15027893 | | 2004-06-01 |
| Digital ischaemia in a renal transplant patient | [1]Iain Moore, [2]Saeed Ahmed, [3]John A. Sayer, [4]Michael K Ward [Full author list] | Nephrology Dialysis Transplantation [curation] | DOI: 10.1093/NDT/GFH047
PubMed: 15150367 | | 2004-06-01 |
| Calcium phosphate and calcium oxalate crystal handling is dependent upon CLC-5 expression in mouse collecting duct cells | [1]John A. Sayer, [2]G Carr, [3]N L Simmons [Full author list] | Biochimica et Biophysica Acta [curation] | DOI: 10.1016/J.BBADIS.2004.02.007
PubMed: 15158917 | calcium oxalate [curation] | 2004-05-01 |
| A role for CBS domain 2 in trafficking of chloride channel CLC-5 | [1]Georgina Carr, [2]Nicholas Simmons, [3]John A. Sayer [Full author list] | Biochemical and Biophysical Research Communications [curation] | DOI: 10.1016/J.BBRC.2003.09.057
PubMed: 14521953 | biochemistry [curation]; biophysics [curation]; cell biology [curation] | 2003-10-17 |
| Disordered calcium crystal handling in antisense CLC-5-treated collecting duct cells | [1]John A. Sayer, [2]Georgina Carr, [3]Simon Pearce, [4]Timothy H J Goodship, [5]Nicholas L Simmons [Full author list] | Biochemical and Biophysical Research Communications [curation] | DOI: 10.1016/S0006-291X(02)02837-1
PubMed: 12504084 | | 2003-01-01 |
| 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 | [1]David Morgan, [2]Lorraine Eley, [3]John A. Sayer, [4]Tom Strachan, [5]Laura M Yates, [6]A Scott Craighead, [7]Judith A Goodship [Full author list] | Human Molecular Genetics [curation] | DOI: 10.1093/HMG/11.26.3345
PubMed: 12471060 | | 2002-12-01 |