Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism

Autor: Yurong Cheng, Pascal Schlosser, Johannes Hertel, Peggy Sekula, Peter J. Oefner, Ute Spiekerkoetter, Johanna Mielke, Daniel F. Freitag, Miriam Schmidts, GCKD Investigators, Florian Kronenberg, Kai-Uwe Eckardt, Ines Thiele, Yong Li, Anna Köttgen

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)

Metabolites are indicators of health and disease; genetic studies can reveal variants influencing their levels. Here, the authors investigate the contribution of rare, exonic variants on the levels of urine metabolites and generate predictions on met

Externí odkaz: https://doaj.org/article/b5d5b7f5988e4fe4b8e179a7a1c34fcb

Genetics of osteopontin in patients with chronic kidney disease: The German Chronic Kidney Disease study.

Autor: Yurong Cheng, Yong Li, Nora Scherer, Franziska Grundner-Culemann, Terho Lehtimäki, Binisha H Mishra, Olli T Raitakari, Matthias Nauck, Kai-Uwe Eckardt, Peggy Sekula, Ulla T Schultheiss, GCKD investigators

Publikováno v: PLoS Genetics, Vol 18, Iss 4, p e1010139 (2022)

Osteopontin (OPN), encoded by SPP1, is a phosphorylated glycoprotein predominantly synthesized in kidney tissue. Increased OPN mRNA and protein expression correlates with proteinuria, reduced creatinine clearance, and kidney fibrosis in animal models

Externí odkaz: https://doaj.org/article/b8d6a12a01274495a88c227f515c5b84

Growth characteristics and therapeutic decision markers in von Hippel-Lindau disease patients with renal cell carcinoma

Autor: Patrick Schuhmacher, Emily Kim, Felix Hahn, Peggy Sekula, Cordula Annette Jilg, Christian Leiber, Hartmut P. Neumann, Wolfgang Schultze-Seemann, Gerd Walz, Stefan Zschiedrich

Publikováno v: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-8 (2019)

Abstract Background Von Hippel-Lindau (VHL) disease is a multi-systemic hereditary disease associated with several benign and malignant tumor entities, including clear cell renal cell carcinoma (ccRCC). Since ccRCCs grow slowly, nephron sparing surge

Externí odkaz: https://doaj.org/article/30c73b108bd342aba1d10597fd7070c6

Control procedures and estimators of the false discovery rate and their application in low-dimensional settings: an empirical investigation

Autor: Regina Brinster, Anna Köttgen, Bamidele O. Tayo, Martin Schumacher, Peggy Sekula, on behalf of the CKDGen Consortium

Publikováno v: BMC Bioinformatics, Vol 19, Iss 1, Pp 1-10 (2018)

Abstract Background When many (up to millions) of statistical tests are conducted in discovery set analyses such as genome-wide association studies (GWAS), approaches controlling family-wise error rate (FWER) or false discovery rate (FDR) are require

Externí odkaz: https://doaj.org/article/d9e2fd38273e47d49b61372aea204593

Erratum to: Methods for evaluating medical tests and biomarkers

Autor: Gowri Gopalakrishna, Miranda Langendam, Rob Scholten, Patrick Bossuyt, Mariska Leeflang, Anna Noel-Storr, James Thomas, Iain Marshall, Byron Wallace, Penny Whiting, Clare Davenport, Gowri GopalaKrishna, Isabel de Salis, Sue Mallett, Robert Wolff, Richard Riley, Marie Westwood, Jos Kleinen, Gary Collins, Hans Reitsma, Karel Moons, Antonia Zapf, Annika Hoyer, Katharina Kramer, Oliver Kuss, J. Ensor, J. J. Deeks, E. C. Martin, R. D. Riley, Gerta Rücker, Susanne Steinhauser, Martin Schumacher, Joie Ensor, Kym Snell, Brian Willis, Thomas Debray, Jon Deeks, Lavinia Ferrante di Ruffano, Sian Taylor-Phillips, Chris Hyde, Stuart A. Taylor, Gauraang Batnagar, STREAMLINE COLON Investigators, STREAMLINE LUNG Investigators, METRIC Investigators, Lavinia Ferrante Di Ruffano, Farah Seedat, Aileen Clarke, Sarah Byron, Frances Nixon, Rebecca Albrow, Thomas Walker, Carla Deakin, Zhivko Zhelev, Harriet Hunt, Yaling Yang, Lucy Abel, James Buchanan, Thomas Fanshawe, Bethany Shinkins, Laure Wynants, Jan Verbakel, Sabine Van Huffel, Dirk Timmerman, Ben Van Calster, Aeliko Zwinderman, Jason Oke, Jack O’Sullivan, Rafael Perera, Brian Nicholson, Hannah L. Bromley, Tracy E. Roberts, Adele Francis, Denniis Petrie, G. Bruce Mann, Kinga Malottki, Holly Smith, Lucinda Billingham, Alice Sitch, Oke Gerke, Mie Holm-Vilstrup, Eivind Antonsen Segtnan, Ulrich Halekoh, Poul Flemming Høilund-Carlsen, Bernard G. Francq, Jac Dinnes, Julie Parkes, Walter Gregory, Jenny Hewison, Doug Altman, William Rosenberg, Peter Selby, Julien Asselineau, Paul Perez, Aïssatou Paye, Emilie Bessede, Cécile Proust-Lima, Christiana Naaktgeboren, Joris de Groot, Anne Rutjes, Johannes Reitsma, Emmanuel Ogundimu, Jonathan Cook, Yannick Le Manach, Yvonne Vergouwe, Romin Pajouheshnia, Rolf Groenwold, Karen Moons, Linda Peelen, Daan Nieboer, Bavo De Cock, Micael J. Pencina, Ewout W. Steyerberg, Jennifer Cooper, Nick Parsons, Chris Stinton, Steve Smith, Andy Dickens, Rachel Jordan, Alexandra Enocson, David Fitzmaurice, Peymane Adab, Charles Boachie, Gaj Vidmar, Karoline Freeman, Martin Connock, Rachel Court, Carl Moons, Jessica Harris, Andrew Mumford, Zoe Plummer, Kurtis Lee, Barnaby Reeves, Chris Rogers, Veerle Verheyden, Gianni D. Angelini, Gavin J. Murphy, Jeremy Huddy, Melody Ni, Katherine Good, Graham Cooke, George Hanna, Jie Ma, K. G. M. (Carl) Moons, Joris A. H. de Groot, Doug G. Altman, Johannes B. Reitsma, Gary S. Collins, Karel G. M. Moons, Douglas G. Altman, Adina Najwa Kamarudin, Ruwanthi Kolamunnage-Dona, Trevor Cox, Simone Borsci, Teresa Pérez, M.Carmen Pardo, Angel Candela-Toha, Alfonso Muriel, Javier Zamora, Sabina Sanghera, Syed Mohiuddin, Richard Martin, Jenny Donovan, Joanna Coast, Mikyung Kelly Seo, John Cairns, Elizabeth Mitchell, Alison Smith, Judy Wright, Peter Hall, Michael Messenger, Nicola Calder, Nyantara Wickramasekera, Karen Vinall-Collier, Andrew Lewington, Johanna Damen, David Cairns, Michelle Hutchinson, Cathie Sturgeon, Liz Mitchel, Rebecca Kift, Sofia Christakoudi, Manohursingh Rungall, Paula Mobillo, Rosa Montero, Tjir-Li Tsui, Sui Phin Kon, Beatriz Tucker, Steven Sacks, Chris Farmer, Terry Strom, Paramit Chowdhury, Irene Rebollo-Mesa, Maria Hernandez-Fuentes, Johanna A. A. G. Damen, Thomas P. A. Debray, Pauline Heus, Lotty Hooft, Rob J. P. M. Scholten, Ewoud Schuit, Ioanna Tzoulaki, Camille M. Lassale, George C. M. Siontis, Virginia Chiocchia, Corran Roberts, Michael Maia Schlüssel, Stephen Gerry, James A. Black, Yvonne T. van der Schouw, Linda M. Peelen, Graeme Spence, David McCartney, Ann van den Bruel, Daniel Lasserson, Gail Hayward, Werner Vach, Antoinette de Jong, Coreline Burggraaff, Otto Hoekstra, Josée Zijlstra, Henrica de Vet, Sara Graziadio, Joy Allen, Louise Johnston, Rachel O’Leary, Michael Power, Louise Johnson, Ray Waters, John Simpson, Thomas R. Fanshawe, Peter Phillips, Andrew Plumb, Emma Helbren, Steve Halligan, Alastair Gale, Peggy Sekula, Willi Sauerbrei, Julia R. Forman, Susan J. Dutton, Yemisi Takwoingi, Elizabeth M. Hensor, Thomas E. Nichols, Emmanuelle Kempf, Raphael Porcher, Jennifer de Beyer, Douglas Altman, Sally Hopewell, John Dennis, Beverley Shields, Angus Jones, William Henley, Ewan Pearson, Andrew Hattersley, on behalf of the MASTERMIND consortium, Fueloep Scheibler, Anne Rummer, Sibylle Sturtz, Robert Großelfinger, Katie Banister, Craig Ramsay, Augusto Azuara-Blanco, Jennifer Burr, Manjula Kumarasamy, Rupert Bourne, Ijeoma Uchegbu, Jennifer Murphy, Alex Carter, Jen Murphy, Joachim Marti, Julie Eatock, Julie Robotham, Maria Dudareva, Mark Gilchrist, Alison Holmes, Phillip Monaghan, Sarah Lord, Andrew StJohn, Sverre Sandberg, Christa Cobbaert, Lieselotte Lennartz, Wilma Verhagen-Kamerbeek, Christoph Ebert, Andrea Horvath, for the Test Evaluation Working Group of the European Federation of Clinical Chemistry and Laboratory Medicine, Kevin Jenniskens, Jaime Peters, Bogdan Grigore, Obi Ukoumunne, Brooke Levis, Andrea Benedetti, Alexander W. Levis, John P. A. Ioannidis, Ian Shrier, Pim Cuijpers, Simon Gilbody, Lorie A. Kloda, Dean McMillan, Scott B Patten, Russell J. Steele, Roy C Ziegelstein, Charles H. Bombardier, Flavia de Lima Osório, Jesse R. Fann, Dwenda Gjerdingen, Femke Lamers, Manote Lotrakul, Sonia R Loureiro, Bernd Löwe, Juwita Shaaban, Lesley Stafford, Henk C. P. M. van Weert, Mary A. Whooley, Linda S. Williams, Karin A. Wittkampf, Albert S. Yeung, Brett D. Thombs, Chris Cooper, Tom Nieto, Claire Smith, Olga Tucker, Janine Dretzke, Andrew Beggs, Nirmala Rai, Sue Bayliss, Simon Stevens, Sue Mallet, Sudha Sundar, Emma Hall, Nuria Porta, David Lorente Estelles, Johann de Bono, on behalf of the CTC-STOP protocol development group

Publikováno v: Diagnostic and Prognostic Research, Vol 1, Iss 1, Pp 1-5 (2017)

Externí odkaz: https://doaj.org/article/6e4d4aeef31d4a4ab5f1974912d6fe8c