| Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum O Le Saux, Z Urban, C Tschuch, K Csiszar, B Bacchelli, D Quaglino, ... Nature genetics 25 (2), 223-227, 2000 | 632 | 2000 |
| Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6) A Iliás, Z Urbán, TL Seidl, O Le Saux, E Sinkó, CD Boyd, B Sarkadi, ... Journal of Biological Chemistry 277 (19), 16860-16867, 2002 | 294 | 2002 |
| A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum O Le Saux, K Beck, C Sachsinger, C Silvestri, C Treiber, HHH Göring, ... The American Journal of Human Genetics 69 (4), 749-764, 2001 | 212 | 2001 |
| Oral administration of pyrophosphate inhibits connective tissue calcification D Dedinszki, F Szeri, E Kozák, V Pomozi, N Tőkési, TR Mezei, K Merczel, ... EMBO molecular medicine 9 (11), 1463-1470, 2017 | 115 | 2017 |
| The vascular phenotype in Pseudoxanthoma elasticum and related disorders: contribution of a genetic disease to the understanding of vascular calcification G Lefthériotis, L Omarjee, OL Saux, D Henrion, P Abraham, F Prunier, ... Frontiers in genetics 4, 4, 2013 | 111 | 2013 |
| The distribution of Abcc6 in normal mouse tissues suggests multiple functions for this ABC transporter K Beck, K Hayashi, B Nishiguchi, OL Saux, M Hayashi, CD Boyd Journal of Histochemistry & Cytochemistry 51 (7), 887-902, 2003 | 107 | 2003 |
| Acquired pseudoxanthoma elasticum‐like syndrome in β‐thalassaemia patients N Hamlin, K Beck, B Bacchelli, P Cianciulli, I Pasquali‐Ronchetti, ... British journal of haematology 122 (5), 852-854, 2003 | 97 | 2003 |
| DNA methylation and Sp1 binding determine the tissue-specific transcriptional activity of the mouse Abcc6 promoter V Douet, MB Heller, O Le Saux Biochemical and biophysical research communications 354 (1), 66-71, 2007 | 91 | 2007 |
| Serum factors from pseudoxanthoma elasticum patients alter elastic fiber formation in vitro O Le Saux, S Bunda, CM VanWart, V Douet, L Got, L Martin, A Hinek Journal of Investigative Dermatology 126 (7), 1497-1505, 2006 | 90 | 2006 |
| Expression and in vivo rescue of human ABCC6 disease-causing mutants in mouse liver O Le Saux, K Fülöp, Y Yamaguchi, A Iliás, Z Szabó, CN Brampton, ... PloS one 6 (9), e24738, 2011 | 86 | 2011 |
| Pseudoxanthoma elasticum maps to an 820-kb region of the p13. 1 region of chromosome 16 O Le Saux, Z Urban, HHH Göring, K Csiszar, FM Pope, A Richards, ... Genomics 62 (1), 1-10, 1999 | 81 | 1999 |
| The molecular and physiological roles of ABCC6: more than meets the eye O Le Saux, L Martin, Z Aherrahrou, G Leftheriotis, A Váradi, CN Brampton Frontiers in genetics 3, 289, 2012 | 80 | 2012 |
| Pyrophosphate supplementation prevents chronic and acute calcification in ABCC6-deficient mice V Pomozi, C Brampton, K van de Wetering, J Zoll, B Calio, K Pham, ... The American journal of pathology 187 (6), 1258-1272, 2017 | 74 | 2017 |
| The role of caveolin-1 in pulmonary matrix remodeling and mechanical properties O Le Saux, K Teeters, S Miyasato, J Choi, G Nakamatsu, JA Richardson, ... American Journal of Physiology-Lung Cellular and Molecular Physiology 295 (6 …, 2008 | 71 | 2008 |
| Vitamin K does not prevent soft tissue mineralization in a mouse model of pseudoxanthoma elasticum C Brampton, Y Yamaguchi, O Vanakker, L Van Laer, LH Chen, M Thakore, ... Cell Cycle 10 (11), 1810-1820, 2011 | 66 | 2011 |
| Identification of heterozygote carriers in families with a recessive form of pseudoxanthoma elasticum (PXE). B Bacchelli, D Quaglino, D Gheduzzi, F Taparelli, F Boraldi, B Trolli, ... Modern pathology: an official journal of the United States and Canadian …, 1999 | 66 | 1999 |
| ABCC6 is a basolateral plasma membrane protein V Pomozi, O Le Saux, C Brampton, A Apana, A Iliás, F Szeri, L Martin, ... Circulation research 112 (11), e148-e151, 2013 | 62 | 2013 |
| Analysis of pseudoxanthoma elasticum–causing missense mutants of ABCC6 in vivo; pharmacological correction of the mislocalized proteins V Pomozi, C Brampton, K Fülöp, LH Chen, A Apana, Q Li, J Uitto, ... Journal of Investigative Dermatology 134 (4), 946-953, 2014 | 58 | 2014 |
| ABCC6 deficiency promotes development of randall plaque E Letavernier, G Kauffenstein, L Huguet, N Navasiolava, E Bouderlique, ... Journal of the American Society of Nephrology 29 (9), 2337-2347, 2018 | 56 | 2018 |
| Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXE L Martin, F Maître, P Bonicel, P Daudon, C Verny, D Bonneau, O Le Saux, ... Archives of dermatology 144 (3), 301-306, 2008 | 56 | 2008 |
