Dorien Peters
Professor Human Genetics, in particular the molecular and functional genetics of renal diseases
- Name
- Prof.dr. D.J.M. Peters
- Telephone
- +31 71 526 9490
- d.j.m.peters@lumc.nl
Dorien J.M. Peters is professor of Human Genetics, in particular the molecular and functional genetics of polycystic kidney disease, at the Department of Human Genetics at the Leiden University Medical Center (LUMC).
More information about Dorien Peters
Dorien J.M. Peters is professor of Human Genetics, in particular the molecular and functional genetics of polycystic kidney disease, at the Department of Human Genetics at the Leiden University Medical Center (LUMC).
Molecular and functional genetics
Molecular and functional genetics studies the structure and function of genes at the molecular level, and how molecular variations affect biological mechanisms. Getting insight into the molecular pathology is important for the development of potential therapies.
Our research aims to understand molecular mechanisms and pathophysiology of inherited or inborn errors of human development and differentiation. Our research has a strong focus on polycystic kidney disease (PKD), a genetic disease characterised by the formation of many fluid-filled cysts in the kidneys. This causes renal failure in the majority of patients in the fifth decade of life.
Different model systems are being used to perform an in-depth analysis of the molecular alterations, to identify new drug targets and test potential therapies. We also participate in a multi-centre study to analyse the progression of PKD, renal failure and complications of the disease, to identify and validate new tools to monitor disease progression and to identify modifying genes.
Academic career
Dorien J.M. Peters performed her PhD-research at the Department of Cell Biology and Genetics of the Science faculty of Leiden University. The title of her doctoral thesis reads ‘Regulation of cAMP-induced gene expression in Dictyostelium discoideum’ (February 13, 1991).
Subsequently, she became post-doc at the Department of Human Genetics of the LUMC and in 1999 she became group leader of the Developmental Genetics research group, first as assistant professor, in 2000 as associate professor and since 2014 as a full professor. Her inaugural lecture was spoken on April 17 2015 and was titled 'The context matters'.
Prof. dr. Peters has published more than 120 scientific publications. She was project leader of several multidisciplinary national and international (FP7) research networks and is currently coordinating the Dutch ‘Developing Interventions to hold Progression of Autosomal Dominant Polycystic Kidney Disease (DIPAK)’ consortium. She is an active (co)-organiser of international conferences as well as Dutch symposia. She is member of the scientific board of the Dutch Federation of Nephrology (NFN), was member of the Scientific board of the Dutch Kidney Foundation (2011-2017) and member of the board of Dutch Society of Human Genetics (2000-2008).
She is also chair of the Study programme committee for Biomedical Sciences and Member of the MD/PhD-MSc/PhD-committee of the LUMC.
Prizes and honourable appointments
Dorien J.M. Peters received in 2013 the Lillian Jean Kaplan International Prize for Advancement in the Understanding of Polycystic Kidney Disease (PKD), for excellence and leadership in PKD research. She received in 1996 the Nephrology award from the Dutch Society of Nephrology.
Professor Human Genetics, in particular the molecular and functional genetics of renal diseases
- Faculteit Geneeskunde
- Divisie 4
- Humane Genetica en Toxicologie
- Losekoot, M.; Meijer, E.; Hagen, E.C.; Belostotsky, V.; Borst, M. de; Tholens, A.; Phylipsen, M.; Pei, Y.; Gansevoort, R.T. & Peters, D.J.M. (2020), Polycystic Kidney Disease Caused by Bilineal Inheritance of Truncating PKD1 as Well as PKD2 Mutations, Kidney International Reports 5(10): 1828-1832.
- Kramers, B.J.; Koorevaar, I.W.; Drenth, J.P.H.; Fijter, J.W. de; Neto, A.G.; Peters, D.J.M.; Vart, P.; Wetzels, J.F.; Zietse, R.; Gansevoort, R.T. & Meijer, E. (2020), Salt, but not protein intake, is associated with accelerated disease progression in autosomal dominant polycystic kidney disease, Kidney International 98(4): 989-998.
- Booij, T.H.; Leonhard, W.N.; Bange, H.; Yan, K.; Fokkelman, M.; Plugge, A.J.; Veraar, K.A.M.; Dauwerse, J.G.; Westen, G.J.P. van; Water, B. van de; Price, L.S. & Peters, D.J.M. (2020), In vitro 3D phenotypic drug screen identifies celastrol as an effective in vivo inhibitor of polycystic kidney disease, JOURNAL OF MOLECULAR CELL BIOLOGY 12(8): 644-653.
- Formica, C. & Peters, D.J.M. (2020), Molecular pathways involved in injury-repair and ADPKD progression, Cellular Signalling 72.
- Messchendorp, A.L.; Casteleijn, N.F.; Meijer, E.; Gansevoort, R.T.; Drenth, J.P.; Fijter, J.W. de; Peters, D.J.M.; Visser, F.W.; Wetzels, J.F.; Zietse, R. & DIPAK Consortium Investigators (2020), Somatostatin in renal physiology and autosomal dominant polycystic kidney disease, Nephrology Dialysis Transplantation 35(8): 1306-1316.
- Lannoy, M.; Valluru, M.K.; Chang, L.J.; Abdela-Ali, F.; Peters, D.J.M.; Streets, A.J. & Ong, A.C.M. (2020), The positive effect of selective prostaglandin E2 receptor EP2 and EP4 blockade on cystogenesis in vitro is counteracted by increased kidney inflammation in vivo, Kidney International 98(2): 404-419.
- Formica, C.; Kunnen, S.; Dauwerse, J.G.; Mullick, A.E.; Dijkstra, K.L.; Scharpfenecker, M. & Peters, D.J.M. (2020), Reducing YAP expression in Pkd1 mutant mice does not improve the cystic phenotype, Journal of Cellular and Molecular Medicine 24(15): 8876-8882.
- Dekker, S.E.I.; Verhoeven, A.; Soonawala, D.; Peters, D.J.M.; Fijter, J.W. de; Mayboroda, O.A. & DIPAK Consortium (2020), Urinary metabolites associate with the rate of kidney function decline in patients with autosomal dominant polycystic kidney disease, PLoS ONE 15(5).
- Verschuren, E.H.J.; Rigalli, J.P.; Castenmiller, C.; Rohrbach, M.U.; Bindels, R.J.M.; Peters, D.J.M.; Arjona, F.J. & Hoenderop, J.G.J. (2020), Pannexin-1 mediates fluid shear stress-sensitive purinergic signaling and cyst growth in polycystic kidney disease, FASEB Journal 34(5): 6382-6398.
- Kenter, A.T.; Rentmeester, E.; Riet, J. van; Boers, R.; Boers, J.; Ghazvini, M.; Xavier, V.J.; Leenders, G.J.L.H. van; Verhagen, P.C.M.S.; Til, M.E. van; Eussen, B.; Losekoot, M.; Klein, A. de; Peters, D.J.M.; IJcken, W.F.J. van; Werken, H.J.G. van de; Zietse, R.; Hoorn, E.J.; Jansen, G. & Gribnau, J.H. (2020), Cystic renal-epithelial derived induced pluripotent stem cells from polycystic kidney disease patients, Stem Cells Translational Medicine 9(4): 478-490.
- Verschuren, E.H.J.; Castenmiller, C.; Peters, D.J.M.; Arjona, F.J.; Bindels, R.J.M. & Hoenderop, J.G.J. (2020), Sensing of tubular flow and renal electrolyte transport, Nature Reviews Nephrology 16(6): 337-351.
- Kanhai, A.A.; Bange, H.; Verburg, L.; Dijkstra, K.L.; Price, L.S.; Peters, D.J.M. & Leonhard, W.N. (2020), Renal cyst growth is attenuated by a combination treatment of tolvaptan and pioglitazone, while pioglitazone treatment alone is not effective, Scientific Reports 10(1).
- Malas, T.B.; Leonhard, W.N.; Bange, H.; Granchi, Z.; Hettne, K.M.; Westen, G.J.P. van; Price, L.S.; Hoen, P.A.C. 't & Peters, D.J.M. (2020), Prioritization of novel ADPKD drug candidates from disease-stage specific gene expression profiles, EBioMedicine 51.
- Messchendorp, A.L.; Meijer, E.; Visser, F.W.; Engels, G.E.; Kappert, P.; Losekoot, M.; Peters, D.J.M.; Gansevoort, R.T. & DIPAK-1 Study Investigators (2019), Rapid Progression of Autosomal Dominant Polycystic Kidney Disease: Urinary Biomarkers as Predictors, American Journal of Nephrology 50(5): 375-385.
- Formica, C.; Happe, H.; Veraar, K.A.M.; Vortkamp, A.; Scharpfenecker, M.; McNeill, H. & Peters, D.J.M. (2019), Four-jointed knock-out delays renal failure in an ADPKD model with kidney injury, Journal of Pathology 249(1): 114-125.
- Leonhard, W.N.; Song, X.W.; Kanhai, A.A.; Iliuta, I.A.; Bozovic, A.; Steinberg, G.R.; Peters, D.J.M. & Pei, Y. (2019), Salsalate, but not metformin or canagliflozin, slows kidney cyst growth in an adult-onset mouse model of polycystic kidney disease, EBioMedicine 47: 436-445.
- Aerts, R.M.M. van; Kievit, W.; D'Agnolo, H.M.A.; Blijdorp, C.J.; Casteleijn, N.F.; Dekker, S.E.I.; Fijter, J.W. de; Gastel, M. van; Gevers, T.J.; Laarschot, L.F.M. van de; Lantinga, M.A.; Losekoot, M.; Meijer, E.; Messchendorp, A.L.; Neijenhuis, M.K.; Pena, M.J.; Peters, D.J.M.; Salih, M.; Soonawala, D.; Spithoven, E.M.; Visser, F.W.; Wetzels, J.F.; Zietse, R.; Gansevoort, R.T.; Drenth, J.P.H. & DIPAK-1 Investigators (2019), Lanreotide Reduces Liver Growth In Patients With Autosomal Dominant Polycystic Liver and Kidney Disease, Gastroenterology 157(2): 481-+.
- Malas, T.B.; Vlietstra, W.J.; Kudrin, R.; Starikov, S.; Charrout, M.; Roos, M.; Peters, D.J.M.; Kors, J.A.; Vos, R.; Hoen, P.A.C. 't; Mulligen, E.M. van & Hettne, K.M. (2019), Drug prioritization using the semantic properties of a knowledge graph, Scientific Reports 9.
- Verschuren, E.H.J.; Hoenderop, J.G.J.; Peters, D.J.M.; Arjona, F.J. & Bindels, R.J.M. (2019), Tubular flow activates magnesium transport in the distal convoluted tubule, FASEB Journal 33(4): 5034-5044.
- Sanchez-Lopez, E.; Kammeijer, G.S.M.; Crego, A.L.; Marina, M.L.; Ramautar, R.; Peters, D.J.M. & Mayboroda, O.A. (2019), Sheathless CE-MS based metabolic profiling of kidney tissue section samples from a mouse model of Polycystic Kidney Disease, Scientific Reports 9.
- Shi, H.L.; Leonhard, W.N.; Sijbrandi, N.J.; Steenbergen, M.J. van; Fens, M.H.A.M.; Dikkenberg, J.B. van de; Torano, J.S.; Peters, D.J.M.; Hennink, W.E. & Kok, R.J. (2019), Folate-dactolisib conjugates for targeting tubular cells in polycystic kidneys, Journal of Controlled Release 293: 113-125.
- Kunnen, S.J.; Malas, T.B.; Formica, C.; Leonhard, W.N.; Hoen, P.A.C. 't & Peters, D.J.M. (2018), Comparative transcriptomics of shear stress treated Pkd1(-/-) cells and pre-cystic kidneys reveals pathways involved in early polycystic kidney disease, Biomedicine and Pharmacotherapy 108: 1123-1134.
- Messchendorp, A.L.; Spithoven, E.M.; Casteleijn, N.F.; Dam, W.A.; Born, J. van den; Tonnis, W.F.; Gaillard, C.A.J.M.; Meijer, E.; Drenth, J.; Fijter, J.W. de; Gansevoort, R.T.; Peters, D.J.M.; Wetzels, J.F.M.; Zietse, R. & DIPAK Consortium (2018), Association of plasma somatostatin with disease severity and progression in patients with autosomal dominant polycystic kidney disease, BMC Nephrology 19.
- Bergmann, C.; Guay-Woodford, L.M.; Harris, P.C.; Horie, S.; Peters, D.J.M. & Torres, V.E. (2018), Polycystic kidney disease, Nature Reviews Disease Primers 4.
- Kraus, A.; Peters, D.J.M.; Klanke, B.; Weidemann, A.; Willam, C.; Schley, G.; Kunzelmann, K.; Eckardt, K.U. & Buchholz, B. (2018), HIF-1 alpha promotes cyst progression in a mouse model of autosomal dominant polycystic kidney disease, Kidney International 94(5): 887-899.
- Meijer, E.; Visser, F.W.; Aerts, R.M.M. van; Blijdorp, C.J.; Casteleijn, N.F.; D'Agnolo, H.M.A.; Dekker, S.E.I.; Drenth, J.P.H.; Fijter, J. de; Gastel, M.D.A. van; Gevers, T.J.; Lantinga, M.A.; Losekoot, M.; Messchendorp, A.L.; Neijenhuis, M.K.; Pena, M.J.; Peters, D.J.M.; Salih, M.; Soonawala, D.; Spithoven, E.M.; Wetzels, J.F.; Zietse, R.; Gansevoort, R.T. & DIPAK-1 Investigators (2018), Effect of Lanreotide on Kidney Function in Patients With Autosomal Dominant Polycystic Kidney Disease The DIPAK 1 Randomized Clinical Trial, Journal of the American Medical Association 320(19): 2010-2019.
- Verschuren, E.H.J.; Mohammed, S.G.; Leonhard, W.N.; Overmars-Bos, C.; Veraar, K.; Hoenderop, J.G.J.; Bindels, R.J.M.; Peters, D.J.M. & Arjona, F.J. (2018), Polycystin-1 dysfunction impairs electrolyte and water handling in a renal precystic mouse model for ADPKD, AJP - Renal Physiology 315(3): F537-F546.
- Lin, C.; Happe, H.; Veraar, K.; Scharpfenecker, M.; Peters, D.J.M. & Dipak Consortium (2018), The expression of somatostatin receptor 2 decreases during cyst growth in mice with polycystic kidney disease, Experimental Biology and Medicine 243(13): 1092-1098.
- Dafinger, C.; Rinschen, M.M.; Borgal, L.; Ehrenberg, C.; Basten, S.G.; Franke, M.; Hone, M.; Rauh, M.; Gobel, H.; Bloch, W.; Wunderlich, F.T.; Peters, D.J.M.; Tasche, D.; Mishra, T.; Habbig, S.; Dotsch, J.; Muller, R.U.; Bruning, J.C.; Persigehl, T.; Giles, R.H.; Benzing, T.; Schermer, B. & Liebau, M.C. (2018), Targeted deletion of the AAA-ATPase Ruvbl1 in mice disrupts ciliary integrity and causes renal disease and hydrocephalus, Experimental and Molecular Medicine 50.
- Kunnen, S.J.; Malas, T.B.; Semeins, C.M.; Bakker, A.D. & Peters, D.J.M. (2018), Comprehensive transcriptome analysis of fluid shear stress altered gene expression in renal epithelial cells, Journal of Cellular Physiology 233(4): 3615-3628.
- Harris, T.; Sandford, R.; Coninck, B. de; Devuyst, O.; Drenth, J.P.H.; Ecder, T.; Kent, A.; Gansevoort, R.T.; Gorriz, J.L.; Ong, A.C.M.; Pirson, Y.; Torres, V.E.; Budde, K.; Clement, D.; Derchi, L.E.; Eleftheroudi, M.; Levtchenko, E.; Peters, D.; Poppel, H. van & Vanholder, R. (2018), European ADPKD Forum multidisciplinary position statement on autosomal dominant polycystic kidney disease care, Nephrology Dialysis Transplantation 33(4): 563-573.
- Messchendorp, A.L.; Meijer, E.; Boertien, W.E.; Engels, G.E.; Casteleijn, N.F.; Spithoven, E.M.; Losekoot, M.; Burgerhof, J.G.M.; Peters, D.J.M.; Gansevoort, R.T. & DIPAK Consortium (2018), Urinary Biomarkers to Identify Autosomal Dominant Polycystic Kidney Disease Patients With a High Likelihood of Disease Progression, Kidney International Reports 3(2): 291-301.
- D'Agnolo, H.M.A.; Casteleijn, N.F.; Gevers, T.J.G.; Fijter, H. de; Gastel, M.D.A. van; Messchendorp, A.L.; Peters, D.J.M.; Salih, M.; Soonawala, D.; Spithoven, E.M.; Visser, F.W.; Wetzels, J.F.M.; Zietse, R.; Gansevoort, R.T. & Drenth, J.P.H. (2017), The Association of Combined Total Kidney and Liver Volume with Pain and Gastrointestinal Symptoms in Patients with Later Stage Autosomal Dominant Polycystic Kidney Disease, American Journal of Nephrology 46(3): 239-248.
- Sanchez-Lopez, E.; Happe, H.; Steenvoorden, E.; Crego, A.L.; Marina, M.L.; Peters, D.J.M.; Mayboroda, O.A. & Dutch DIPAK Consortium (2017), A cross-platform metabolomics workflow for volume-restricted tissue samples: application to an animal model for polycystic kidney disease, Molecular BioSystems 13(10): 1940-1945.
- Booij, T.H.; Bange, H.; Leonhard, W.N.; Yan, K.; Fokkelman, M.; Kunnen, S.J.; Dauwerse, J.G.; Qin, Y.; Water, B. van de; Westen, G.J.P. van; Peters, D.J.M. & Price, L.S. (2017), High-Throughput Phenotypic Screening of Kinase Inhibitors to Identify Drug Targets for Polycystic Kidney Disease, Slas Discovery 22(8): 974-984.
- Borras, D.M.; Vossen, R.H.A.M.; Liem, M.; Buermans, H.P.J.; Dauwerse, H.; Heusden, D. van; Gansevoort, R.T.; Dunnen, J.T. den; Janssen, B.; Peters, D.J.M.; Losekoot, M. & Anvar, S.Y. (2017), Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing, Human Mutation 38(7): 870-879.
- Kunnen, S.J.; Leonhard, W.N.; Semeins, C.; Hawinkels, L.J.A.C.; Poelma, C.; Dijke, P. ten; Bakker, A.; Hierck, B.P. & Peters, D.J.M. (2017), Fluid shear stress-induced TGF-beta/ALK5 signaling in renal epithelial cells is modulated by MEK1/2, Cellular and Molecular Life Sciences 74(12): 2283-2298.
- Bailey, S.T.; Smith, A.M.; Kardos, J.; Wobker, S.E.; Wilson, H.L.; Krishnan, B.; Saito, R.; Lee, H.J.; Zhang, J.; Eaton, S.C.; Williams, L.A.; Manocha, U.; Peters, D.J.; Pan, X.C.; Carroll, T.J.; Felsher, D.W.; Walter, V.; Zhang, Q.; Parker, J.S.; Yeh, J.J.; Moffitt, R.A.; Leung, J.Y. & Kim, W.Y. (2017), MYC activation cooperates with Vhl and Ink4a/Arf loss to induce clear cell renal cell carcinoma, Nature Communications 8.
- Malas, T.B.; Formica, C.; Leonhard, W.N.; Rao, P.; Granchi, Z.; Roos, M.; Peters, D.J.M. & Hoen, P.A.C. 't (2017), Meta-analysis of polycystic kidney disease expression profiles defines strong involvement of injury repair processes, AJP - Renal Physiology 312(4): F806-F817.
- Casteleijn, N.F.; Gastel, M.D.A. van; Blankestijn, P.J.; Drenth, J.P.H.; Jager, R.L. de; Leliveld, A.M.; Stellema, R.; Wolff, A.P.; Groen, G.J.; Gansevoort, R.T. & DIPAK Consortium (2017), Novel treatment protocol for ameliorating refractory, chronic pain in patients with autosomal dominant polycystic kidney disease, Kidney International 91(4): 972-981.
- Streets, A.J.; Magayr, T.A.; Huang, L.H.; Vergoz, L.; Rossetti, S.; Simms, R.J.; Harris, P.C.; Peters, D.J.M. & Ong, A.C.M. (2017), Parallel microarray profiling identifies ErbB4 as a determinant of cyst growth in ADPKD and a prognostic biomarker for disease progression, AJP - Renal Physiology 312(4): F577-F588.
- Fragiadaki, M.; Lannoy, M.; Themanns, M.; Maurer, B.; Leonhard, W.N.; Peters, D.J.M.; Moriggl, R. & Ong, A.C.M. (2017), STAT5 drives,abnormal proliferation in autosomal dominant polycystic kidney disease, Kidney International 91(3): 575-586.
- Lantinga, M.A.; D'Agnolo, H.M.A.; Casteleijn, N.F.; Fijter, J.W. de; Meijer, E.; Messchendorp, A.L.; Peters, D.J.M.; Salih, M.; Spithoven, E.M.; Soonawala, D.; Visser, F.W.; Wetzels, J.F.M.; Zietse, R.; Drenth, J.P.H.; Gansevoort, R.T. & DIPAK Consortium (2017), Hepatic Cyst Infection During Use of the Somatostatin Analog Lanreotide in Autosomal Dominant Polycystic Kidney Disease: An Interim Analysis of the Randomized Open-Label Multicenter DIPAK-1 Study, Drug Safety 40(2): 153-167.
- Booij T.H., Bange H., Leonhard W.N., Yan K., Fokkelman M., Kunnen S.J., Dauwerse J.G., Qin Y., Water B. van de, Westen G.J.P. van, Peters D.J.M. & Price L.S. (2017), High-Throughput Phenotypic Screening of Kinase Inhibitors to Identify Drug Targets for Polycystic Kidney Disease, Slas Discovery 22(8): 974-984.
- Zittema, D.; Versteeg, I.B.; Gansevoort, R.T.; Goor, H. van; Heer, E. de; Veraar, K.A.M.; Peters, D.J.M. & Meijer, E. (2016), Dose-Titrated Vasopressin V2 Receptor Antagonist Improves Renoprotection in a Mouse Model for Autosomal Dominant Polycystic Kidney Disease, American Journal of Nephrology 44(3): 194-203.
- Leonhard, W.N.; Kunnen, S.J.; Plugge, A.J.; Pasternack, A.; Jianu, S.B.T.; Veraar, K.; Bouazzaoui, F. el; Hoogaars, W.M.H.; Dijke, P. ten; Breuning, M.H.; Heer, E. de; Ritvos, O. & Peters, D.J.M. (2016), Inhibition of Activin Signaling Slows Progression of Polycystic Kidney Disease, Journal of the American Society of Nephrology 27(12): 3589-3599.
- Kraus, A.; Grampp, S.; Goppelt-Struebe, M.; Schreiber, R.; Kunzelmann, K.; Peters, D.J.M.; Leipziger, J.; Schley, G.; Schodel, J.; Eckardt, K.U. & Buchholz, B. (2016), P2Y2R is a direct target of HIF-1 alpha and mediates secretion-dependent cyst growth of renal cyst-forming epithelial cells, Purinergic Signalling 12(4): 687-695.
- Fergelot, P.; Belzen, M. van; Gils, J. van; Afenjar, A.; Armour, C.M.; Arveiler, B.; Beets, L.; Burglen, L.; Busa, T.; Collet, M.; Deforges, J.; Vries, B.B.A. de; Garrido, E.D.; Dorison, N.; Dupont, J.; Francannet, C.; Garcia-Minaur, S.; Vila, E.G.; Gebre-Medhin, S.; Querol, B.G.; Genevieve, D.; Gerard, M.; Gervasini, C.G.; Goldenberg, A.; Josifova, D.; Lachlan, K.; Maas, S.; Maranda, B.; Moilanen, J.S.; Nordgren, A.; Parent, P.; Rankin, J.; Reardon, W.; Rio, M.; Roume, J.; Shaw, A.; Smigiel, R.; Sojo, A.; Solomon, B.; Stembalska, A.; Stumpel, C.; Suarez, F.; Terhal, P.; Thomas, S.; Touraine, R.; Verloes, A.; Vincent-Delorme, C.; Wincent, J.; Peters, D.J.M.; Bartsch, O.; Larizza, L.; Lacombe, D. & Hennekam, R.C. (2016), Phenotype and Genotype in 52 Patients with Rubinstein-Taybi Syndrome Caused by EP300 Mutations, American Journal of Medical Genetics Part A 170(12): 3069-3082.
- Bienaime, F.; Muorah, M.; Yammine, L.; Burtin, M.; Nguyen, C.; Baron, W.; Garbay, S.; Viau, A.; Broueilh, M.; Blanc, T.; Peters, D.; Poli, V.; Anglicheau, D.; Friedlander, G.; Pontoglio, M.; Gallazzini, M. & Terzi, F. (2016), Stat3 Controls Tubulointerstitial Communication during CKD, Journal of the American Society of Nephrology 27(12): 3690-3705.
- Leonhard, W.N.; Happe, H. & Peters, D.J.M. (2016), Variable Cyst Development in Autosomal Dominant Polycystic Kidney Disease: The Biologic Context, Journal of the American Society of Nephrology 27(12): 3530-3538.
- Dauwerse, J.G.; Belzen, M. van; Haeringen, A. van; Santen, G. van; Lans, C. van de; Rahikkala, E.; Garavelli, L.; Breuning, M.; Hennekam, R. & Peters, D. (2016), Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS, European Journal of Human Genetics 24(11): 1639-1643.
- Menke, L.A.; Belzen, M.J. van; Alders, M.; Cristofoli, F.; Ehmke, N.; Fergelot, P.; Foster, A.; Gerkes, E.H.; Hoffer, M.J.V.; Horn, D.; Kant, S.G.; Lacombe, D.; Leon, E.; Maas, S.M.; Melis, D.; Muto, V.; Park, S.M.; Peeters, H.; Peters, D.J.M.; Pfundt, R.; Ravenswaaij-Arts, C.M.A. van; Tartaglia, M.; Hennekam, R.C.M. & DDD Study (2016), CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype, American Journal of Medical Genetics Part A 170(10): 2681-2693.
- Salih, M.; Demmers, J.A.; Berstarosti, K.; Leonhard, W.N.; Losekoot, M.; Kooten, C. van; Gansevoort, R.T.; Peters, D.J.M.; Zietse, R.; Hoorn, E.J. & DIPAK Consortium (2016), Proteomics of Urinary Vesicles Links Plakins and Complement to Polycystic Kidney Disease, Journal of the American Society of Nephrology 27(10): 3079-3092.
- Calcagni, A.; Kors, L.; Verschuren, E.; Cegli, R. de; Zampelli, N.; Nusco, E.; Confalonieri, S.; Bertalot, G.; Pece, S.; Settembre, C.; Malouf, G.G.; Leemans, J.C.; Heer, E. de; Salvatore, M.; Peters, D.J.M.; Fiore, P.P. di & Ballabio, A. (2016), Modeling TFE renal cell carcinoma in mice reveals a critical role of WNT signaling, eLife 5.
- Rutten, J.W.; Dauwerse, H.G.; Peters, D.J.M.; Goldfarb, A.; Venselaar, H.; Haffner, C.; Ommen, G.J.B. van; Aartsma-Rus, A.M. & Oberstein, S.A.J.L. (2016), Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept, Brain 139: 1123-1135.
- Cnossen, W.R.; Morsche, R.H.M.T.; Hoischen, A.; Gilissen, C.; Venselaar, H.; Mehdi, S.; Bergmann, C.; Losekoot, M.; Breuning, M.H.; Peters, D.J.M.; Veltman, J.A. & Drenth, J.P.H. (2016), LRP5 variants may contribute to ADPKD, European Journal of Human Genetics 24(2): 237-242.
- Kraus, A.; Schley, G.; Kunzelmann, K.; Schreiber, R.; Peters, D.J.M.; Stadler, R.; Eckardt, K.U. & Buchholz, B. (2016), Glucose promotes secretion-dependent renal cyst growth, Journal of Molecular Medicine 94(1): 107-117.
- Huang, J.L.; Woolf, A.S.; Kolatsi-Joannou, M.; Baluk, P.; Sandford, R.N.; Peters, D.J.M.; McDonald, D.M.; Price, K.L.; Winyard, P.J.D. & Long, D.A. (2016), Vascular Endothelial Growth Factor C for Polycystic Kidney Diseases, Journal of the American Society of Nephrology 27(1): 69-77.
- Spithoven, E.M.; Gastel, M.D.A. van; Messchendorp, A.L.; Casteleijn, N.F.; Drenth, J.P.H.; Gaillard, C.A.; Fijter, J.W. de; Meijer, E.; Peters, D.J.M.; Kappert, P.; Renken, R.J.; Visser, F.W.; Wetzels, J.F.M.; Zietse, R.; Gansevoort, R.T. & DIPAK Consortium (2015), Estimation of Total Kidney Volume in Autosomal Dominant Polycystic Kidney Disease, American Journal of Kidney Diseases 66(5): 792-801.
- Antignac, C.; Calvet, J.P.; Germino, G.G.; Grantham, J.J.; Guay-Woodford, L.M.; Harris, P.C.; Hildebrandt, F.; Peters, D.J.M.; Somlo, S.; Torres, V.E.; Walz, G.; Zhou, J. & Yu, A.S.L. (2015), The Future of Polycystic Kidney Disease Research-As Seen By the 12 Kaplan Awardees, Journal of the American Society of Nephrology 26(9): 2081-2095.
- Zhou, X.; Fan, L.X.; Peters, D.J.M.; Trudel, M.; Bradner, J.E. & Li, X.G. (2015), Therapeutic targeting of BET bromodomain protein, Brd4, delays cyst growth in ADPKD, Human Molecular Genetics 24(14): 3982-3993.
- Chen, L.; Zhou, X.; Fan, L.X.; Yao, Y.; Swenson-Fields, K.I.; Gadjeva, M.; Wallace, D.P.; Peters, D.J.M.; Yu, A.; Grantham, J.J. & Li, X.G. (2015), Macrophage migration inhibitory factor promotes cyst growth in polycystic kidney disease, Journal of Clinical Investigation 125(6): 2399-2412.
- Leonhard, W.N.; Zandbergen, M.; Veraar, K.; Berg, S. van den; Weerd, L. van der; Breuning, M.; Heer, E. de & Peters, D.J.M. (2015), Scattered Deletion of PKD1 in Kidneys Causes a Cystic Snowball Effect and Recapitulates Polycystic Kidney Disease, Journal of the American Society of Nephrology 26(6): 1322-1333.
- Happe, H. & Peters, D.J.M. (2014), Translational research in ADPKD: lessons from animal models, Nature Reviews Nephrology 10(10): 587-601.
- Casteleijn, N.F.; Visser, F.W.; Drenth, J.P.H.; Gevers, T.J.G.; Groen, G.J.; Hogan, M.C.; Gansevoort, R.T. & DIPAK Consortium (2014), A stepwise approach for effective management of chronic pain in autosomal-dominant polycystic kidney disease, Nephrology Dialysis Transplantation 29: 142-153.
- Kar, A.L. van de; Houge, G.; Shaw, A.C.; Jong, D. de; Belzen, M.J. van; Peters, D.J.M. & Hennekam, R.C.M. (2014), Keloids in Rubinstein-Taybi syndrome: a clinical study, British Journal of Dermatology 171(3): 615-621.
- Meijer, E.; Drenth, J.P.H.; d'Agnolo, H.; Casteleijn, N.F.; Fijter, J.W. de; Gevers, T.J.; Kappert, P.; Peters, D.J.M.; Salih, M.; Soonawala, D.; Spithoven, E.M.; Torres, V.E.; Visser, F.W.; Wetzels, J.F.M.; Zietse, R.; Gansevoort, R.T. & DIPAK Consortium (2014), Rationale and Design of the DIPAK 1 Study: A Randomized Controlled Clinical Trial Assessing the Efficacy of Lanreotide to Halt Disease Progression in Autosomal Dominant Polycystic Kidney Disease, American Journal of Kidney Diseases 63(3): 446-455.
- Hulsteijn, L.T. van; Dulk, A.C. den; Hes, F.J.; Bayley, J.P.; Jansen, J.C. & Corssmit, E.P.M. (2013), No difference in phenotype of the main Dutch SDHD founder mutations, Clinical Endocrinology 79(6): 824-831.
- Rutten, J.W.; Boon, E.M.J.; Liem, M.K.; Dauwerse, J.G.; Pont, M.J.; Vollebregt, E.; Maat-Kievit, A.J.; Ginjaar, H.B.; Lakeman, P.; Duinen, S.G. van; Terwindt, G.M. & Oberstein, S.A.J.L. (2013), Hypomorphic NOTCH3 Alleles Do Not Cause CADASIL in Humans, Human Mutation 34(11): 1486-1489.
- Spithoven, E.M.; Bakker, S.J.L.; Kootstra-Ros, J.E.; Jong, P.E. de; Gansevoort, R.T. & DIPAK Consortium Investigators (2013), Stability of creatinine and cystatin C in whole blood, Clinical Biochemistry 46(15): 1611-1614.
- Happe, H.; Wal, A.M. van der; Salvatori, D.C.F.; Leonhard, W.N.; Breuning, M.H.; Heer, E. de & Peters, D.J.M. (2013), Cyst expansion and regression in a mouse model of polycystic kidney disease, Kidney International 83(6): 1099-1108.
- Streets, A.J.; Wessely, O.; Peters, D.J.M. & Ong, A.C.M. (2013), Hyperphosphorylation of polycystin-2 at a critical residue in disease reveals an essential role for polycystin-1-regulated dephosphorylation, Human Molecular Genetics 22(10): 1924-1939.
- Happé H, de Heer E & Peters DJ (2012), Morphometric analysis of centrosome position in tissues., Methods in Molecular Biology 839: 249-55.
- Boertien, W.E.; Meijer, E.; Zittema, D.; Dijk, M.A. van; Rabelink, T.J.; Breuning, M.H.; Struck, J.; Bakker, S.J.L.; Peters, D.J.M.; Jong, P.E. de & Gansevoort, R.T. (2012), Copeptin, a surrogate marker for vasopressin, is associated with kidney function decline in subjects with autosomal dominant polycystic kidney disease.
- Novalic, Z.; Wal, A.M. van der; Leonhard, W.N.; Koehl, G.; Breuning, M.H.; Geissler, E.K.; Heer, E. de & Peters, D.J.M. (2012), Dose-Dependent Effects of Sirolimus on mTOR Signaling and Polycystic Kidney Disease, Journal of the American Society of Nephrology 23(5): 842-853.
- Ivliev, A.E.; Hoen, P.A.C. 't; Roon-Mom, W.M.C. van; Peters, D.J.M. & Sergeeva, M.G. (2012), Exploring the Transcriptome of Ciliated Cells Using In Silico Dissection of Human Tissues, PLoS ONE 7(4): -.
- Peyronnet, R.; Sharif-Naeini, R.; Folgering, J.H.A.; Arhatte, M.; Jodar, M.; Boustany, C. el; Gallian, C.; Tauc, M.; Duranton, C.; Rubera, I.; Lesage, F.; Pei, Y.; Peters, D.J.M.; Somlo, S.; Sachs, F.; Patel, A.; Honore, E. & Duprat, F. (2012), Mechanoprotection by Polycystins against Apoptosis Is Mediated through the Opening of Stretch-Activated K-2P Channels, Cell Reports 1(3): 241-250.
- Losekoot M, Ruivenkamp CA, Tholens AP, Grimbergen JE, Vijfhuizen L, Vermeer S, Dijkman HB, Cornelissen EA, Bongers EM & Peters DJ (2012), Neonatal onset autsomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy, Journal of Medical Genetics.
- Happe, H.; Heer, E. de & Peters, D.J.M. (2011), Polycystic kidney disease: The complexity of planar cell polarity and signaling during tissue regeneration and cyst formation, BBA - Molecular Basis of Disease 1812(10): 1249-1255.
- Meijer, E.; Gansevoort, R.T.; Jong, P.E. de; Wal, A.M. van der; Leonhard, W.N.; Krey, S.R. de; Born, J. van den; Mulder, G.M.; Goor, H. van; Struck, J.; Heer, E. de & Peters, D.J.M. (2011), Therapeutic potential of vasopressin V2 receptor antagonist in a mouse model for autosomal dominant polycystic kidney disease: optimal timing and dosing of the drug.
- Happe, H.; Wal, A.M. van der; Leonhard, W.N.; Kunnen, S.J.; Breuning, M.H.; Heer, E. de & Peters, D.J.M. (2011), Altered Hippo signalling in polycystic kidney disease, Journal of Pathology 224(1): 133-142.
- Leonhard, W.N.; Wal, A. van der; Novalic, Z.; Kunnen, S.J.; Gansevoort, R.T.; Breuning, M.H.; Heer, E. de & Peters, D.J.M. (2011), Curcumin inhibits cystogenesis by simultaneous interference of multiple signaling pathways: in vivo evidence from a Pkd1-deletion model, AJP - Renal Physiology 300(5): F1193-F1202.
- Haagen, H.H.H.B.M. van; Hoen, P.A.C. 't; Morree, A. de; Roon-Mom, W.M.C. van; Peters, D.J.M.; Roos, M.; Mons, B.; Ommen, G.J. van & Schuemie, M.J. (2011), In silico discovery and experimental validation of new protein-protein interactions., Proteomics 11(5): 843-53.
- Dauwerse, J.G.; Dixon, J.; Seland, S.; Ruivenkamp, C.A.L.; Haeringen, A. van; Hoefsloot, L.H.; Peters, D.J.M.; Boers, A.C.D.; Daumer-Haas, C.; Maiwald, R.; Zweier, C.; Kerr, B.; Cobo, A.M.; Toral, J.F.; Hoogeboom, A.J.M.; Lohmann, D.R.; Hehr, U.; Dixon, M.J.; Breuning, M.H. & Wieczorek, D. (2011), Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome, Nature Genetics 43(1): 20-22.
- Dauwerse, J.G.; Dixon, J.; Seland, S.; Ruivenkamp, C.A.L.; Haeringen, A. van; Hoefsloot, L.H.; Peters, D.J.M.; Boers, A.C.D.; Daumer-Haas, C.; Maiwald, R.; Zweier, C.; Kerr, B.; Cobo, A.M.; Toral, J.F.; Hoogeboom, A.J.M.; Lohmann, D.R.; Hehr, U.; Dixon, M.J.; Breuning, M.H. & Wieczorek, D. (2011), Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome., Nature Genetics 43(1): 20-2.
- Hassane, S.; Claij, N.; Jodar, M.; Dedman, A.; Lauritzen, I.; Duprat, F.; Koenderman, J.S.; Wal, A. van der; Breuning, M.H.; Heer, E. de; Honore, E.; DeRuiter, M.C. & Peters, D.J.M. (2011), Pkd1-inactivation in vascular smooth muscle cells and adaptation to hypertension, Laboratory Investigation 91(1): 24-32.
- Belzen, M. van; Bartsch, O.; Lacombe, D.; Peters, D.J.M. & Hennekam, R.C.M. (2011), Rubinstein-Taybi syndrome (CREBBP, EP300), European Journal of Human Genetics 19(1): -.
- Meijer, E.; Boertien, W.E.; Nauta, F.L.; Bakker, S.J.L.; Oeveren, W. van; Rook, M.; Jagt, E.J. van der; Goor, H. van; Peters, D.J.M.; Navis, G.; Jong, P.E. de & Gansevoort, R.T. (2010), Association of Urinary Biomarkers With Disease Severity in Patients With Autosomal Dominant Polycystic Kidney Disease: A Cross-sectional Analysis.
- Hassane, S.; Leonhard, W.N.; Wal, A. van der; Hawinkels, L.J.A.C.; Lantinga-van Leeuwen, I.S.; Dijke, P. ten; Breuning, M.H.; Heer, E. de & Peters, D.J.M. (2010), Elevated TGF beta-Smad signalling in experimental Pkd1 models and human patients with polycystic kidney disease, Journal of Pathology 222(1): 21-31.
- Liu, M.; Shi, S.; Senthilnathan, S.; Yu, J.; Wu, E.; Bergmann, C.; Zerres, K.; Bogdanova, N.; Coto, E.; Deltas, C.; Pierides, A.; Demetriou, K.; Devuyst, O.; Gitomer, B.; Laakso, M.; Lumiaho, A.; Lamnissou, K.; Magistroni, R.; Parfrey, P.; Breuning, M.; Peters, D.J.M.; Torra, R.; Winearls, C.G.; Torres, V.E.; Harris, P.C.; Paterson, A.D. & Pei, Y. (2010), Genetic variation of DKK3 may modify renal disease severity in ADPKD., Journal of the American Society of Nephrology 21(9): 1510-20.
- Dauwerse, J.G.; Ruivenkamp, C.A.; Hansson, K.; Marijnissen, G.M.; Peters, D.J.M.; Breuning, M.H. & Hilhorst-Hofstee, Y. (2010), A Complex Chromosome 7q Rearrangement Identified in a Patient With Mental Retardation, Anxiety Disorder, and Autistic Features, American Journal of Medical Genetics Part A 152A(2): 427-433.
- Wieczorek D, Bartsch O, Lechno S, Kohlhase J, Peters DJM, Dauwerse H, Gillessen-Kaesbach G, Hennekam RCM & Passarge E (2009), Two Adults With Rubinstein-Taybi Syndrome With Mild Mental Retardation, Glaucoma, Normal Growth and Skull Circumference, and Camptodactyly of Third Fingers, American Journal of Medical Genetics Part A 149A(12): 2849-2854.
- Sharif-Naeini R, Folgering JHA, Bichet D, Duprat F, Lauritzen I, Arhatte M, Jodar M, Dedman A, Chatelain FC & Schulte U (2009), Polycystin-1 and-2 Dosage Regulates Pressure Sensing, Cell 139(3): 587-596.
- Happe H, Leonhard WN, van der Wal A, van de Water B, Lantinga-van Leeuwen IS, Breuning MH, de Heer E & Peters DJM (2009), Toxic tubular injury in kidneys from Pkd1-deletion mice accelerates cystogenesis accompanied by dysregulated planar cell polarity and canonical Wnt signaling pathways, Human Molecular Genetics 18(14): 2532-2542.
- Pei Y, Obaji J, Dupuis A, Paterson AD, Magistroni R, Dicks E, Parfrey P, Cramer B, Coto E & Torra R (2009), Unified Criteria for Ultrasonographic Diagnosis of ADPKD, Journal of the American Society of Nephrology 20(1): 205-212.
- Yu ASL, Kanzawa SA, Usorov A, Leeuwen ISLV & Peters DJM (2008), Tight junction composition is altered in the epithelium of polycystic kidneys, Journal of Pathology 216(1).
- de Voer G, Peters D & Taschner PEM (2008), Caenorhabditis elegans as a model for lysosomal storage disorders, BBA - Molecular Basis of Disease 1782(7-8).
- Kaisaki PJ, Bergmann C, Brown JH, Outeda P, Lens XM, Peters DJM, Gretz N, Gauguier D & Bihoreau MT (2008), Genomic organization and mutation screening of the human ortholog of Pkdr1 associated with polycystic kidney disease in the rat, European Journal of Medical Genetics 51(4).
- Meijer E, de Jong PE, Peters DJ & Gansevoort RT (2008), Better understanding of ADPKD results in potential new treatment options: ready for the cure?, Journal of Nephrology 21(2).
- Leonhard WN, Roelfsema JH, Leeuwen ISLV, Breuning MH & Peters DJM (2008), Quantification of Cre-mediated recombination by a novel strategy reveals a stable extra-chromosomal deletion-circle in mice, BMC Biotechnology 8.
- Lantinga-van Leeuwen IS, Leonhard WN, van der Wal A, Breuning MH, de Heer E & Peters DJM (2007), Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult mice, Human Molecular Genetics 16(24).
- Hassane S, Claij N, Lantinga-van Leeuwen IS, Van Munsteren JC, Van Lent N, Hanemaaijer R, Breuning MH, Peters DJM & DeRuiter MC (2007), Pathogenic sequence for dissecting aneurysm formation in a hypomorphic polycystic kidney disease 1 mouse modelle, Arteriosclerosis, Thrombosis, and Vascular Biology 27(10).
- Dauwerse JG, de Vries BBA, Wouters CH, Bakker E, Rappold G, Mortier GR, Breuning MH & Peters DJM (2007), A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndrome, European Journal of Human Genetics 15(7).
- Bartholdi D, Roelfsema JH, Papadia F, Breuning MH, Niedrist D, Hennekam RC, Schinzel A & Peters DJM (2007), Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300, Journal of Medical Genetics 44(5).
- Lantinga-van Leeuwen IS, Leonhard WN, van de Wal A, Breuning MH, Verbeek S, de Heer E & Peters DJM (2006), Transgenic mice expressing tamoxifen-inducible Cre for somatic gene modification in renal epithelial cells, genesis 44(5).
- Claij N & Peters DJM (2006), Teaching molecular genetics: Chapter 2 - Transgenesis and gene targeting: mouse models to study gene function and expression, Pediatric Nephrology 21(3).
- Losekoot M, Haarloo C, Ruivenkamp C, White SJ, Breuning MH & Peters DJM (2005), Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD), Human Genetics 118(2): 185-206.
- Le NH, van der Wal A, van der Bent P, Lantinga-van Leeuwen IS, Breuning MH, van Dam H, de Heer E & Peters DJM (2005), Increased activity of activator protein-1 transcription factor components ATF2, c-Jun, and c-Fos in human and mouse autosomal dominant polycystic kidney disease, Journal of the American Society of Nephrology 16(9).
- Lantinga-van Leeuwen IS, Leonhard WN, Dauwerse H, Baelde HJ, van Oost BA, Breuning MH & Peters DJM (2005), Common regulatory elements in the polycystic kidney disease 1 and 2 promoter regions, European Journal of Human Genetics 13(5).
- Roelfsema JH, White SJ, Ariyurek Y, Bartholdi D, Niedrist D, Papadia F, Bacino CA, den Dunnen JT, van Ommen GJB, Breuning MH, Hennekam RC & Peters DJM (2005), Genetic heterogeneity in Rubinstein-Taybi syndrome: Mutations in both the CBP and EP300 genes cause disease, American Journal of Human Genetics 76(4).
- Lantinga-van Leeuwen IS, Dauwerse JG, Baelde HJ, Leonhard WN, van de Wal A, Ward CJ, Verbeek S, DeRuiter MC, Breuning MH, de Heer E & Peters DJM (2004), Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease, Human Molecular Genetics 13(24).
- Jurczyk A, Gromley A, Redick S, Agustin JS, Witman G, Pazour GJ, Peters DJM & Doxsey S (2004), Pericentrin forms a complex with intraflagellar transport proteins and polycystin-2 and is required for primary cilia assembly, Journal of Cell Biology 166(5).
- Le NH, van der Bent P, Huls G, van de Wetering M, Loghman-Adham M, Ong ACM, Calvet JP, Clevers H, Breuning MH, van Dam H & Peters DJM (2004), Aberrant polycystin-1 expression results in modification of activator protein-1 activity, whereas Wnt signaling remains unaffected, Journal of Biological Chemistry 279(26).
- Aguiari G, Banzi M, Gessi S, Cai YQ, Zeggio E, Manzati E, Piva R, Lambertini E, Ferrari L, Peters DJ, Lanza F, Harris PC, Borea PA, Somlo S & del Senno L (2004), Deficiency of polycystin-2 reduces Ca2+ channel activity and cell proliferation in ADPKD lymphoblastoid cells, FASEB Journal 18(3).
- Scheffers MS, van der Bent P, van de Wal A, van Eendenburg J, Breuning MH, de Heer E & Peters DJM (2004), Altered distribution and co-localization of polycystin-2 with polycystin-1 in MDCK cells after wounding stress, Experimental Cell Research 292(1).
- Magistroni R, He N, Wang KR, Andrew R, Johnson A, Gabow P, Dicks E, Parfrey P, Torra R, San-Millan JL, Coto E, Van Dijk M, Breuning M, Peters D, Bogdanova N, Ligabue G, Albertazzi A, Hateboer N, Demetriou K, Pierides A, Deltas C, St George-Hyslop P, Ravine D & Pei Y (2003), Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease, Journal of the American Society of Nephrology 14(5).
- Kalkhoven E, Roelfsema JH, Teunissen H, den Boer A, Ariyurek Y, Zantema A, Breuning MH, Hennekam RCM & Peters DJM (2003), Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome, Human Molecular Genetics 12(4).
- Dauwerse JG, de Die-Smulders CEM, Bakker E, Breuning MH & Peters DJM (2002), Heterozygous truncating mutation in the human homeobox gene GSH2 has no discernable phenotypic effect, Journal of Medical Genetics 39(9).
- Dauwerse JG, Bouman K, van Essen AJ, van der Hout AH, Kolsters G, Breuning MH & Peters DJM (2002), Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome, Journal of Medical Genetics 39(2).
- Scheffers MS, Le H, van der Bent P, Leonhard W, Prins F, Spruit L, Breuning MH, de Heer E & Peters DJM (2002), Distinct subcellular expression of endogenous polycystin-2 in the plasma membrane and Golgi apparatus of MDCK cells, Human Molecular Genetics 11(1).
- Peters DJM, Ariyurek Y, van Dijk M & Breuning MH (2001), Mutation detection for exons 2 to 10 of the Polycystic Kidney Disease 1 (PKD1)-gene by DGGE, European Journal of Human Genetics 9(12).
- Peters DJM & Breuning MH (2001), Autosomal dominant polycystic kidney disease: modification of disease progression, Lancet 358(9291).
- Scheffers MS, van der Bent P, Prins F, Spruit L, Breuning MH, Litvinov SV, de Heer E & Peters DJM (2000), Polycystin-1, the product of the polycystic kidney disease 1 gene, co-localizes with desmosomes in MDCK cells, Human Molecular Genetics 9(18).
- van Dijk MA, Breuning MH, Peters DJM & Chang PC (2000), The ACE insertion/deletion polymorphism has no influence on progression of renal function loss in autosomal dominant polycystic kidney disease.
- Petrij F, Dorsman JC, Dauwerse HG, Giles RH, Peeters T, Hennekam RCM, Breuning MH & Peters DJM (2000), Rubinstein-Taybi syndrome caused by a de novo reciprocal translocation t(2;16)(q38.3;p13.3).
- Hateboer N, Veldhuisen B, Peters D, Breuning MH, San-Millan JL, Bogdanova N, Coto E, von Dijk MA, Afzal AR, Jeffery S, Saggar-Malik AK, Torra R, Dimitrakov D, Martinez I, de Castro SS, Krawczak M & Ravine D (2000), Location of mutations within the PKD2 gene influences clinical outcome.
- Petrij F, Dauwerse HG, Blough RI, Giles RH, van der Smagt JJ, Wallerstein R, Maaswinkel-Mooy PD, van Karnebeek CD, van Ommen GJB, van Haeringen A, Rubinstein JH, Saal HM, Hennekam RCM, Peters DJM & Breuning MH (2000), Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations.
- Veldhuisen B, Spruit L, Dauwerse HG, Breuning MH & Peters DJM (1999), Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2).
- Consultant