Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease

Autor: Yask Gupta, David J. Friedman, Michelle T. McNulty, Atlas Khan, Brandon Lane, Chen Wang, Juntao Ke, Gina Jin, Benjamin Wooden, Andrea L. Knob, Tze Y. Lim, Gerald B. Appel, Kinsie Huggins, Lili Liu, Adele Mitrotti, Megan C. Stangl, Andrew Bomback, Rik Westland, Monica Bodria, Maddalena Marasa, Ning Shang, David J. Cohen, Russell J. Crew, William Morello, Pietro Canetta, Jai Radhakrishnan, Jeremiah Martino, Qingxue Liu, Wendy K. Chung, Angelica Espinoza, Yuan Luo, Wei-Qi Wei, Qiping Feng, Chunhua Weng, Yilu Fang, Iftikhar J. Kullo, Mohammadreza Naderian, Nita Limdi, Marguerite R. Irvin, Hemant Tiwari, Sumit Mohan, Maya Rao, Geoffrey K. Dube, Ninad S. Chaudhary, Orlando M. Gutiérrez, Suzanne E. Judd, Mary Cushman, Leslie A. Lange, Ethan M. Lange, Daniel L. Bivona, Miguel Verbitsky, Cheryl A. Winkler, Jeffrey B. Kopp, Dominick Santoriello, Ibrahim Batal, Sérgio Veloso Brant Pinheiro, Eduardo Araújo Oliveira, Ana Cristina Simoes e Silva, Isabella Pisani, Enrico Fiaccadori, Fangming Lin, Loreto Gesualdo, Antonio Amoroso, Gian Marco Ghiggeri, Vivette D. D’Agati, Riccardo Magistroni, Eimear E. Kenny, Ruth J. F. Loos, Giovanni Montini, Friedhelm Hildebrandt, Dirk S. Paul, Slavé Petrovski, David B. Goldstein, Matthias Kretzler, Rasheed Gbadegesin, Ali G. Gharavi, Krzysztof Kiryluk, Matthew G. Sampson, Martin R. Pollak, Simone Sanna-Cherchi

Publikováno v: Nature Communications, Vol 14, Iss 1, Pp 1-8 (2023)

Abstract African Americans have a significantly higher risk of developing chronic kidney disease, especially focal segmental glomerulosclerosis -, than European Americans. Two coding variants (G1 and G2) in the APOL1 gene play a major role in this di

Externí odkaz: https://doaj.org/article/9f6233ad88a44f828fd1c0264b712139

Genetic inhibition of RIPK3 ameliorates functional outcome in controlled cortical impact independent of necroptosis

Autor: Limin Wu, Joon Yong Chung, Tian Cao, Gina Jin, William J. Edmiston, Suzanne Hickman, Emily S. Levy, Jordyn A. Whalen, Eliza Sophie LaRovere Abrams, Alexei Degterev, Eng H. Lo, Lorenzo Tozzi, David L. Kaplan, Joseph El Khoury, Michael J. Whalen

Publikováno v: Cell Death and Disease, Vol 12, Iss 11, Pp 1-16 (2021)

Abstract Traumatic brain injury (TBI) is a leading cause of death and disability with no specific effective therapy, in part because disease driving mechanisms remain to be elucidated. Receptor interacting protein kinases (RIPKs) are serine/threonine

Externí odkaz: https://doaj.org/article/c772f18f6a714ef4a0700b6cdba662be

Multi-population genome-wide association study implicates both immune and non-immune factors in the etiology of pediatric steroid sensitive nephrotic syndrome

Autor: Alexandra Barry, Michelle T. McNulty, Xiaoyuan Jia, Yask Gupta, Hanna Debiec, Yang Luo, China Nagano, Tomoko Horinouchi, Seulgi Jung, Manuela Colucci, Dina F. Ahram, Adele Mitrotti, Aditi Sinha, Nynke Teeninga, Gina Jin, Shirlee Shril, Gianluca Caridi, Monica Bodria, Tze Y Lim, Rik Westland, Francesca Zanoni, Maddalena Marasa, Daniel Turudic, Mario Giordano, Loreto Gesualdo, Riccardo Magistroni, Isabella Pisani, Enrico Fiaccadori, Jana Reiterova, Silvio Maringhini, William Morello, Giovanni Montini, Patricia L. Weng, Francesco Scolari, Marijan Saraga, Velibor Tasic, Domenica Santoro, Joanna A.E. van Wijk, Danko Milošević, Yosuke Kawai, Krzysztof Kiryluk, Martin R. Pollak, Ali Gharavi, Fangmin Lin, Ana Cristina Simœs e Silva, Ruth J.F. Loos, Eimear E. Kenny, Michiel F. Schreuder, Aleksandra Zurowska, Claire Dossier, Gema Ariceta, Magdalena Drozynska-Duklas, Julien Hogan, Augustina Jankauskiene, Friedhelm Hildebrandt, Larisa Prikhodina, Kyuyoung Song, Arvind Bagga, Hae Il Cheong, Gian Marco Ghiggeri, Prayong Vachvanichsanong, Kandai Nozu, Marina Vivarelli, Soumya Raychaudhuri, Katsushi Tokunaga, Simone Sanna-Cherchi, Pierre Ronco, Kazumoto Iijima, Matthew G. Sampson

Pediatric steroid-sensitive nephrotic syndrome (pSSNS) is the most common childhood glomerular disease. Previous genome-wide association studies (GWAS) identified a risk locus in the HLA Class II region and three additional signals. But the genetic a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a675f9967e5fb542d7ca8887a5106993
https://doi.org/10.1101/2022.09.13.22279644

Cell-specific activation of RIPK1 and MLKL after intracerebral hemorrhage in mice

Autor: Joon Yong Chung, Tanya Songtachalert, Alexei Degterev, David L. Kaplan, Gina Jin, Aliyah Sarro-Schwartz, Neil D. Fernandes, Michael J. Whalen, William J Edmiston, Saef Izzy, Siddharth Balachandran, So Hee Ahn, Sevda Lule, Eng H. Lo, Limin Wu

Publikováno v: J Cereb Blood Flow Metab

Receptor-interacting protein kinase-1 (RIPK1) is a master regulator of cell death and inflammation, and mediates programmed necrosis (necroptosis) via mixed-lineage kinase like (MLKL) protein. Prior studies in experimental intracerebral hemorrhage (I

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d499fbb6dec51bda6e73d9d43b680867
https://doi.org/10.1177/0271678x20973609

Genetic inhibition of RIPK3 ameliorates functional outcome in controlled cortical impact independent of necroptosis

Autor: Jordyn A. Whalen, William J Edmiston, Tian Cao, Michael J. Whalen, Limin Wu, Lorenzo Tozzi, Suzanne E. Hickman, Alexei Degterev, Gina Jin, Eng H. Lo, Emily Levy, Joseph El Khoury, David L. Kaplan, Eliza Sophie LaRovere Abrams, Joon Yong Chung

Publikováno v: Cell Death and Disease, Vol 12, Iss 11, Pp 1-16 (2021)
Cell Death & Disease

Traumatic brain injury (TBI) is a leading cause of death and disability with no specific effective therapy, in part because disease driving mechanisms remain to be elucidated. Receptor interacting protein kinases (RIPKs) are serine/threonine kinases

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b47e38e64644808dc307ab19c8720126
https://doi.org/10.1038/s41419-021-04333-z