High ranking publications 2008

• Stacion M, Dib-Hajj SD, Benke PJ, Te Morsche RH, Eastman EM, Macala LJ et al. NaV1.7 gain-of-function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders. J Neurosci 2008 October 22;28(43):11079-88.
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• van KL, de Man RA, Drenth JP. Somatostatin analogues reduce liver volume in polycystic liver disease. Gut 2008 September;57(9):1338-9.
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• Rosendahl J, Witt H, Szmola R, Bhatia E, Ozsvari B, Landt O et al. Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis. Nat Genet 2008 January;40(1):78-82.
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• Vegt E, van Eerd JEM, Eek A, Wetzels JFM, de Jong M, Russel FGM, Masereeuw R, Oyen WJG, Gotthardt M, Boerman OC. Reducing renal uptake of radiolabeled peptides using albumin fragments. J Nucl Med 2008; 49 (9): 1506-11
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• Hoefs SJ, Dieteren CE, Distelmaier F, Janssen RJ, Epplen A, Swarts HG, Forkink M, Rodenburg RJ, Nijtmans LG, Willems PH, Smeitink JA, van den Heuvel LP. NDUFA2 complex I mutation leads to Leigh disease. Am J Hum Genet. 2008 Jun;82(6):1306-15.
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• Dieteren CE, Willems PH, Vogel RO, Swarts HG, Fransen J, Roepman R, Crienen G, Smeitink JA, Nijtmans LG, Koopman WJ. Subunits of Mitochondrial Complex I Exist as Part of Matrix- and Membrane-associated Subcomplexes in Living Cells.. J Biol Chem. 2008 Dec 12; 283(50):34753-61. Epub 2008 Sep 30.
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• Kartikasari AE, Wagener FA, Yachie A, Wiegerinck ET, Kemna EH, Swinkels DW. Hepcidin suppression and defective iron recycling account for dysregulation of iron homeostasis in heme oxygenase-1 deficiency. J Cell Mol Med. 2008 Sep 4.
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• Schrohl AS, Würtz S, Kohn E, Banks RE, Nielsen HJ, Sweep FC, Brünner N.Banking of biological fluids for studies of disease-associated protein biomarkers. Mol Cell Proteomics. 2008;7(10):2061-6.
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• Netea-Maier RT, Hunsucker SW, Hoevenaars BM, Helmke SM, Slootweg PJ, Hermus AR, Haugen BR, Duncan MW. Discovery and validation of protein abundance differences between follicular thyroid neoplasms. Cancer Res. 2008 Mar 1;68(5):1572-80.
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• Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, Budde, B, Nürnberg P, Foulquier F; ARCL Debré-type Study Group, Lefeber D, Urban Z, Gruenewald S, Annaert W, Brunner HG, van Bokhoven H, Wevers R, Morava E, Matthijs G, Van Maldergem L, Mundlos S. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet. 2008 Jan;40(1):32-4.
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• Sassi Y, Lipskaia L, Vandecasteele G, Nikolaev VO, Hatem SN, Cohen Aubart F,Russel FG, Mougenot N, Vrignaud C, Lechat P, Lompré AM, Hulot JS.  Multidrug resistance-associated protein 4 regulates cAMP-dependent signaling pathways and controls human and rat SMC proliferation. J Clin Invest. 2008 Aug;118(8):2747-57.
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• Cao G, Thébault S, van der Wijst J, van der Kemp A, Lasonder E, Bindels RJ, Hoenderop JG. RACK1 inhibits TRPM6 activity via phosphorylation of the fused alpha-kinase domain. Curr Biol. 18:168-76, 2008
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• Gorden NT, Arts HH, Parisi MA, Coene KL, Letteboer SJ, van Beersum SE, Mans DA Hikida A, Eckert M, Knutzen D, Alswaid AF, Ozyurek H, Dibooglu S, Otto EA, Liu Y,  Davis EE, Hutter CM, Bammler TK, Farin FM, Dorschner M, Topçu M, Zackai EH, Rosenthal P, Owens KN, Katsanis N, Vincent JB, Hildebrandt F, Rubel EW, Raible DW, Knoers NV, Chance PF, Roepman R, Moens CB, Glass IA, Doherty D. CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290. Am J Hum Genet 2008;83:559-71.
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