Point mutation in D8C domain of Tamm-Horsfall protein/uromodulin in transgenic mice causes progressive renal damage and hyperuricemia.

Autor: Lijie Ma, Yan Liu, Nichole K Landry, Tarek M El-Achkar, John C Lieske, Xue-Ru Wu

Publikováno v: PLoS ONE, Vol 12, Iss 11, p e0186769 (2017)

Hereditary mutations in Tamm-Horsfall protein (THP/uromodulin) gene cause autosomal dominant kidney diseases characterized by juvenile-onset hyperuricemia, gout and progressive kidney failure, although the disease pathogenesis remains unclear. Here w

Externí odkaz: https://doaj.org/article/c5e27594545d4fddbd8cf95aff57c654

The chromatin landscape of healthy and injured cell types in the human kidney

Autor: Debora L. Gisch, Michelle Brennan, Blue B. Lake, Jeannine Basta, Mark S. Keller, Ricardo Melo Ferreira, Shreeram Akilesh, Reetika Ghag, Charles Lu, Ying-Hua Cheng, Kimberly S. Collins, Samir V. Parikh, Brad H. Rovin, Lynn Robbins, Lisa Stout, Kimberly Y. Conklin, Dinh Diep, Bo Zhang, Amanda Knoten, Daria Barwinska, Mahla Asghari, Angela R. Sabo, Michael J. Ferkowicz, Timothy A. Sutton, Katherine J. Kelly, Ian H. De Boer, Sylvia E. Rosas, Krzysztof Kiryluk, Jeffrey B. Hodgin, Fadhl Alakwaa, Seth Winfree, Nichole Jefferson, Aydın Türkmen, Joseph P. Gaut, Nils Gehlenborg, Carrie L. Phillips, Tarek M. El-Achkar, Pierre C. Dagher, Takashi Hato, Kun Zhang, Jonathan Himmelfarb, Matthias Kretzler, Shamim Mollah, the Kidney Precision Medicine Project (KPMP), Sanjay Jain, Michael Rauchman, Michael T. Eadon

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-21 (2024)

Abstract There is a need to define regions of gene activation or repression that control human kidney cells in states of health, injury, and repair to understand the molecular pathogenesis of kidney disease and design therapeutic strategies. Comprehe

Externí odkaz: https://doaj.org/article/8d81e0f3c4d54dd6b9a6681fc0df894c

A Precision Medicine Approach Uncovers a Unique Signature of Neutrophils in Patients With Brushite Kidney Stones

Autor: Mohammad Shahidul Makki, Seth Winfree, James E. Lingeman, Frank A. Witzmann, Elaine M. Worcester, Amy E. Krambeck, Fredric L. Coe, Andrew P. Evan, Sharon Bledsoe, Kristin J. Bergsland, Suraj Khochare, Daria Barwinska, James C. Williams, Jr., Tarek M. El-Achkar

Publikováno v: Kidney International Reports, Vol 5, Iss 5, Pp 663-677 (2020)

Introduction: We have previously found that papillary histopathology differs greatly between calcium oxalate and brushite stone formers (SF); the latter have much more papillary mineral deposition, tubular cell injury, and tissue fibrosis. Methods: I

Externí odkaz: https://doaj.org/article/389a098a8d9b451c8f2331649ba7370a

Computational Pathology Fusing Spatial Technologies

Autor: Samuel Border, Nicholas Lucarelli, Michael T. Eadon, Tarek M. El-Achkar, Sanjay Jain, Pinaki Sarder

Publikováno v: Clinical Journal of the American Society of Nephrology. 18:675-677

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a12d326e63f1f9eb353e1445e267ee3d
https://doi.org/10.2215/cjn.0000000000000146

Integrated single-cell sequencing and histopathological analyses reveal diverse injury and repair responses in a participant with acute kidney injury: a clinical-molecular-pathologic correlation

Autor: Rajasree Menon, Andrew S. Bomback, Blue B. Lake, Christy Stutzke, Stephanie M. Grewenow, Steven Menez, Vivette D. D’Agati, Sanjay Jain, Richard Knight, Stewart H. Lecker, Isaac Stillman, Steve Bogen, Laurence H. Beck, Sushrut Waikar, Gearoid M. McMahon, Astrid Weins, Mia R. Colona, Nir Hacohen, Paul J. Hoover, Mark Aulisio, William S. Bush, Dana C. Crawford, John O'toole, Emilio Poggio, John Sedor, Leslie Cooperman, Stacey Jolly, Leal Herlitz, Jane Nguyen, Agustin Gonzalez-Vicente, Ellen Palmer, Dianna Sendrey, Carissa Vinovskis, Petter M. Bjornstad, Paul Appelbaum, Jonathan M. Barasch, Vivette D. D'Agati, Krzysztof Kiryluk, Karla Mehl, Pietro A. Canetta, Ning Shang, Olivia Balderes, Satoru Kudose, Shweta Bansal, Theodore Alexandrov, Helmut Rennke, Tarek M. El-Achkar, Yinghua Cheng, Pierre C. Dagher, Michael T. Eadon, Kenneth W. Dunn, Katherine J. Kelly, Timothy A. Sutton, Daria Barwinska, Michael J. Ferkowicz, Seth Winfree, Sharon Bledsoe, Marcelino Rivera, James C. Williams, Ricardo Melo Ferreira, Chirag R. Parikh, Celia P. Corona-Villalobos, Avi Rosenberg, Sylvia E. Rosas, Neil Roy, Mark Williams, Evren U. Azeloglu, Cijang He, Ravi Iyengar, Jens Hansen, Yuguang Xiong, Brad Rovin, Samir Parikh, John P. Shapiro, Christopher R. Anderton, Ljiljana Pasa-Tolic, Dusan Velickovic, Jessica Lukowski, George Oliver, Joseph Ardayfio, Jack Bebiak, Keith Brown, Catherine E. Campbell, John Saul, Anna Shpigel, Robert Koewler, Taneisha Campbell, Lynda Hayashi, Nichole Jefferson, Glenda V. Roberts, Roy Pinkeney, Olga Troyanskaya, Rachel Sealfon, Katherine R. Tuttle, Yury Goltsev, Kun Zhang, Zoltan G. Laszik, Garry Nolan, Patrick Boada, Minnie Sarwal, Tara Sigdel, Paul J. Lee, Rita R. Alloway, E. Steve Woodle, Heather Ascani, Ulysses G.J. Balis, Jeffrey B. Hodgin, Matthias Kretzler, Chrysta Lienczewski, Laura H. Mariani, Becky Steck, Yougqun He, Edgar Otto, Jennifer Schaub, Victoria M. Blanc, Sean Eddy, Ninive C. Conser, Jinghui Luo, Paul M. Palevsky, Matthew Rosengart, John A. Kellum, Daniel E. Hall, Parmjeet Randhawa, Mitchell Tublin, Raghavan Murugan, Michele M. Elder, James Winters, Charles E. Alpers, Kristina N. Blank, Jonas Carson, Ian H. De Boer, Ashveena L. Dighe, Jonathan Himmelfarb, Sean D. Mooney, Stuart Shankland, Kayleen Williams, Christopher Park, Frederick Dowd, Robyn L. McClelland, Stephen Daniel, Andrew N. Hoofnagle, Adam Wilcox, Kumar Sharma, Manjeri Venkatachalam, Guanshi Zhang, Annapurna Pamreddy, Hongping Ye, Richard Montellano, Robert D. Toto, Miguel Vazquez, Simon C. Lee, R. Tyler Miller, Orson W. Moe, Jose Torrealba, Nancy Wang, Asra Kermani, Kamalanathan Sambandam, Harold Park, S. Susan Hedayati, Christopher Y. Lu, Anitha Vijayan, Joseph P. Gaut, Dennis Moledina, Francis P. Wilson, Ugochukwu Ugwuowo, Tanima Arora

Publikováno v: Kidney Int

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd51674caba4cf76b6db4f600991ecc1
https://doi.org/10.1016/j.kint.2022.03.011