Publications:344
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Erwin P Bottinger, MD
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About Me
Language
Position
Research Topics
Apoptosis/Cell Death, Bioinformatics, Cell Biology, Diabetes, Fibrosis, Genomics, Growth Factors and Receptors, Kidney, Knockout Mice, Signal Transduction
About Me
Language
Position
Research Topics
Apoptosis/Cell Death, Bioinformatics, Cell Biology, Diabetes, Fibrosis, Genomics, Growth Factors and Receptors, Kidney, Knockout Mice, Signal Transduction
Education
, Nuremberg General Hospital, University of ErIangen-Nuremberg
, Cabrini Medical Center
, Massachusetts General Hospital and Harvard Medical School
, National Cancer Institute, National Institutes of Health
MD, Friedrich-Alexander Universitat School of Medicine, Erlangen-Nurember
Research
Millions of Americans are affected with chronic diabetic and non-diabetic kidney diseases that cause kidney failure (end stage renal disease). When kidneys fail, the average life expectancy is just over two years and survival depends on costly and disabling dialysis or transplantation treatments.
State-of-the-art genomics and bioinformatics approaches are used to discover and characterize new molecular targets and pathways associated with apoptosis, transdifferentiation, and fibrogenesis in specialized renal cells exposed to diabetic and other stresses. TGF-beta signaling pathways and targets are a major theme because TGF-beta is a key mediator of these processes.
Model systems used include renal cell culture and mouse models of diabetic and non-diabetic progressive renal disease. A new genomic medicine program aims at identification and validation of molecular biomarkers that predict progressive kidney disease in humans.
Locations
Publications
Selected Publications
- Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes (Nature, (2024), 625, 7993, (92-100), 10.1038/s41586-023-06045-0). Siwei Chen, Laurent C. Francioli, Julia K. Goodrich, Ryan L. Collins, Masahiro Kanai, Qingbo Wang, Jessica Alföldi, Nicholas A. Watts, Christopher Vittal, Laura D. Gauthier, Timothy Poterba, Michael W. Wilson, Yekaterina Tarasova, William Phu, Riley Grant, Mary T. Yohannes, Zan Koenig, Yossi Farjoun, Eric Banks, Stacey Donnelly, Stacey Gabriel, Namrata Gupta, Steven Ferriera, Charlotte Tolonen, Sam Novod, Louis Bergelson, David Roazen, Valentin Ruano-Rubio, Miguel Covarrubias, Christopher Llanwarne, Nikelle Petrillo, Gordon Wade, Thibault Jeandet, Ruchi Munshi, Kathleen Tibbetts, Maria Abreu, Carlos A. Aguilar Salinas, Tariq Ahmad, Christine M. Albert, Diego Ardissino, Irina M. Armean, Elizabeth G. Atkinson, Gil Atzmon, John Barnard, Samantha M. Baxter, Laurent Beaugerie, Emelia J. Benjamin, David Benjamin, Erwin P. Bottinger, Eimear E. Kenny. Nature
- A genomic mutational constraint map using variation in 76,156 human genomes. Siwei Chen, Laurent C. Francioli, Julia K. Goodrich, Ryan L. Collins, Masahiro Kanai, Qingbo Wang, Jessica Alföldi, Nicholas A. Watts, Christopher Vittal, Laura D. Gauthier, Timothy Poterba, Michael W. Wilson, Yekaterina Tarasova, William Phu, Riley Grant, Mary T. Yohannes, Zan Koenig, Yossi Farjoun, Eric Banks, Stacey Donnelly, Stacey Gabriel, Namrata Gupta, Steven Ferriera, Charlotte Tolonen, Sam Novod, Louis Bergelson, David Roazen, Valentin Ruano-Rubio, Miguel Covarrubias, Christopher Llanwarne, Nikelle Petrillo, Gordon Wade, Thibault Jeandet, Ruchi Munshi, Kathleen Tibbetts, Maria Abreu, Carlos A. Aguilar Salinas, Tariq Ahmad, Christine M. Albert, Diego Ardissino, Irina M. Armean, Elizabeth G. Atkinson, Gil Atzmon, John Barnard, Samantha M. Baxter, Laurent Beaugerie, Emelia J. Benjamin, David Benjamin, Erwin P. Bottinger, Eimear E. Kenny. Nature
- Inferring compound heterozygosity from large-scale exome sequencing data. Michael H. Guo, Laurent C. Francioli, Sarah L. Stenton, Julia K. Goodrich, Nicholas A. Watts, Moriel Singer-Berk, Emily Groopman, Philip W. Darnowsky, Matthew Solomonson, Samantha Baxter, Maria Abreu, Carlos A.Aguilar Salinas, Tariq Ahmad, Christine M. Albert, Jessica Alföldi, Diego Ardissino, Irina M. Armean, Gil Atzmon, Eric Banks, John Barnard, Samantha M. Baxter, Laurent Beaugerie, Emelia J. Benjamin, David Benjamin, Louis Bergelson, Michael Boehnke, Lori L. Bonnycastle, Erwin P. Bottinger, Donald W. Bowden, Matthew J. Bown, Steven Brant, Sarah E. Calvo, Hannia Campos, John C. Chambers, Juliana C. Chan, Katherine R. Chao, Sinéad Chapman, Daniel Chasman, Siwei Chen, Rex L. Chisholm, Judy Cho, Rajiv Chowdhury, Mina K. Chung, Wendy K. Chung, Kristian Cibulskis, Bruce Cohen, Ryan L. Collins, Kristen M. Connolly, Adolfo Correa, Miguel Covarrubias, Beryl Cummings, Dana Dabelea, John Danesh, Dawood Darbar, Joshua Denny, Stacey Donnelly, Ravindranath Duggirala, Josée Dupuis, Patrick T. Ellinor, Roberto Elosua, James Emery, Eleina England, Jeanette Erdmann, Tõnu Esko, Emily Evangelista, Yossi Farjoun, Diane Fatkin, Steven Ferriera, Jose Florez, Andre Franke, Martti Färkkilä, Stacey Gabriel, Kiran Garimella, Laura D. Gauthier, Jeff Gentry, Gad Getz, David C. Glahn, Benjamin Glaser, Stephen J. Glatt, David Goldstein, Clicerio Gonzalez, Leif Groop, Sanna Gudmundsson, Namrata Gupta, Andrea Haessly, Christopher Haiman, Ira Hall, Craig Hanis, Matthew Harms, Mikko Hiltunen, Matti M. Holi, Christina M. Hultman, Chaim Jalas, Thibault Jeandet, Mikko Kallela, Diane Kaplan, Jaakko Kaprio, Sekar Kathiresan, Eimear Kenny, Bong Jo Kim, Young Jin Kim, George Kirov, Zan Koenig, Jaspal Kooner, Seppo Koskinen, Harlan M. Krumholz, Subra Kugathasan, Soo Heon Kwak, Markku Laakso, Nicole Lake, Trevyn Langsford, Kristen M. Laricchia, Terho Lehtimäki, Monkol Lek, Emily Lipscomb, Christopher Llanwarne, Ruth J.F. Loos, Steven A. Lubitz, Teresa Tusie Luna, Ronald C.W. Ma, Gregory M. Marcus, Jaume Marrugat, Alicia R. Martin, Kari M. Mattila, Steven McCarroll, Mark I. McCarthy, Jacob McCauley, Dermot McGovern, Ruth McPherson, James B. Meigs, Olle Melander, Andres Metspalu, Deborah Meyers, Eric V. Minikel, Braxton D. Mitchell, Vamsi K. Mootha, Ruchi Munshi, Aliya Naheed, Saman Nazarian, Peter M. Nilsson, Sam Novod, Anne H. O’Donnell-Luria, Michael C. O’Donovan, Yukinori Okada, Dost Ongur, Lorena Orozco, Michael J. Owen, Colin Palmer, Nicholette D. Palmer, Aarno Palotie, Kyong Soo Park, Carlos Pato, Nikelle Petrillo, William Phu, Timothy Poterba, Ann E. Pulver, Dan Rader, Nazneen Rahman, Alex Reiner, Anne M. Remes, Dan Rhodes, Stephen Rich, John D. Rioux, Samuli Ripatti, David Roazen, Dan M. Roden, Jerome I. Rotter, Valentin Ruano-Rubio, Nareh Sahakian, Danish Saleheen, Veikko Salomaa, Andrea Saltzman, Nilesh J. Samani, Jeremiah Scharf, Molly Schleicher, Heribert Schunkert, Sebastian Schönherr, Eleanor Seaby, Cotton Seed, Svati H. Shah, Megan Shand, Moore B. Shoemaker, Tai Shyong, Edwin K. Silverman, Pamela Sklar, J. Gustav Smith, Jonathan T. Smith, Hilkka Soininen, Harry Sokol, Rachel G. Son, Jose Soto, Tim Spector, Christine Stevens, Nathan Stitziel, Patrick F. Sullivan, Jaana Suvisaari, E. Shyong Tai, Michael E. Talkowski, Yekaterina Tarasova, Kent D. Taylor, Yik Ying Teo, Kathleen Tibbetts, Charlotte Tolonen, Ming Tsuang, Tiinamaija Tuomi, Dan Turner, Teresa Tusie-Luna, Erkki Vartiainen, Marquis Vawter, Christopher Vittal, Gordon Wade, Arcturus Wang, Qingbo Wang, James S. Ware, Hugh Watkins, Rinse K. Weersma, Ben Weisburd, Maija Wessman, Nicola Whiffin, Michael W. Wilson, James G. Wilson, Ramnik J. Xavier, Mary T. Yohannes, Grace Tiao, Benjamin M. Neale, Joel N. Hirschhorn, Heidi L. Rehm, Mark J. Daly, Anne O’Donnell-Luria, Konrad J. Karczewski, Daniel G. MacArthur, Kaitlin E. Samocha. Nature Genetics