Zobrazeno 1 - 10
of 137
pro vyhledávání: '"Gregory G Germino"'
Autor:
Cheng-Chao Lin, Luis F Menezes, Jiahe Qiu, Elisabeth Pearson, Fang Zhou, Yu Ishimoto, D Eric Anderson, Gregory G Germino
Publikováno v:
PLoS ONE, Vol 18, Iss 8, p e0289778 (2023)
PKD1 is the most commonly mutated gene causing autosomal dominant polycystic kidney disease (ADPKD). It encodes Polycystin-1 (PC1), a putative membrane protein that undergoes a set of incompletely characterized post-transcriptional cleavage steps and
Externí odkaz:
https://doaj.org/article/59fade14ac6f4f1b8186a043aa464ac1
Autor:
Luis F Menezes, Fang Zhou, Andrew D Patterson, Klaus B Piontek, Kristopher W Krausz, Frank J Gonzalez, Gregory G Germino
Publikováno v:
PLoS Genetics, Vol 8, Iss 11, p e1003053 (2012)
Autosomal Dominant Polycystic Kidney Disease (ADPKD; MIM ID's 173900, 601313, 613095) leads to end-stage kidney disease, caused by mutations in PKD1 or PKD2. Inactivation of Pkd1 before or after P13 in mice results in distinct early- or late-onset di
Externí odkaz:
https://doaj.org/article/4fd71d24c9564f1285c0677e7c0e1d2d
Autor:
Miguel A Garcia-Gonzalez, Patricia Outeda, Qin Zhou, Fang Zhou, Luis F Menezes, Feng Qian, David L Huso, Gregory G Germino, Klaus B Piontek, Terry Watnick
Publikováno v:
PLoS ONE, Vol 5, Iss 9 (2010)
Autosomal dominant polycystic kidney disease (ADPKD) is a common cause of inherited renal failure that results from mutations in PKD1 and PKD2. The disorder is characterized by focal cyst formation that involves somatic mutation of the wild type alle
Externí odkaz:
https://doaj.org/article/5625a3686f1e4e759055e408742f7e50
Publikováno v:
Advances in Kidney Disease and Health. 30:209-219
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::13d71ac8e38b86a9abcd797c7819609b
https://doi.org/10.1053/j.akdh.2023.03.001
https://doi.org/10.1053/j.akdh.2023.03.001
Autor:
Jun-ya Kaimori, Cheng-Chao Lin, Patricia Outeda, Miguel A. Garcia-Gonzalez, Luis F. Menezes, Erum A. Hartung, Ao Li, Guanqing Wu, Hideaki Fujita, Yasunori Sato, Yasuni Nakanuma, Satoko Yamamoto, Naotsugu Ichimaru, Shiro Takahara, Yoshitaka Isaka, Terry Watnick, Luiz F. Onuchic, Lisa M. Guay-Woodford, Gregory G. Germino
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-16 (2017)
Abstract Autosomal recessive polycystic kidney disease (ARPKD) is an important childhood nephropathy, occurring 1 in 20,000 live births. The major clinical phenotypes are expressed in the kidney with dilatation of the collecting ducts, systemic hyper
Externí odkaz:
https://doaj.org/article/89f3879b5d154e2796418eb76debe918
Autor:
Luis F. Menezes, Gregory G. Germino, H. M. Garraffo, Fang Zhou, Hongyi Cai, Peter Walter, Takeshi Terabayashi
Publikováno v:
Kidney360
Background: Multiple studies of tissue and cell samples from patients and pre-clinical models of autosomal dominant polycystic kidney disease report abnormal mitochondrial function and morphology and suggest metabolic reprogramming is an intrinsic fe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8c8bbd484236c63ee3b95ebe3c75a82
https://doi.org/10.34067/kid.0000962021
https://doi.org/10.34067/kid.0000962021
Autor:
Cheng-Chao Lin, Luis F. Menezes, Elisabeth Pearson, Fang Zhou, Yu Ishimoto, D. Eric Anderson, Gregory G. Germino
The localization and function of Polycystin-1, the protein encoded by the gene most commonly mutated in autosomal dominant polycystic kidney disease, remains controversial. We have recently reported that its C-terminus is cleaved and traffics to the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::95513640ff7438c169e445a1a61223e5
https://doi.org/10.1101/2022.04.08.487705
https://doi.org/10.1101/2022.04.08.487705
