Results 11 to 20 of about 621,963 (341)

Genetic diagnosis and prenatal diagnosis of patients with cystic kidney disease in Southwest China [PDF]

BMC Nephrology
Background Cystic kidney disease is a heterogeneous chronic kidney disease. It is often difficult to make a definitive diagnosis based on clinical and ultrasound features alone.
Cong Zhou, Yuanyuan Xiao, Hanbing Xie, Xing Wei, Jing Wang   +4 more
doaj   +2 more sources

Association between lipid-lowering drug targets and the risk of cystic kidney disease: a drug-target Mendelian randomization analysis [PDF]

Renal Failure
Background Evidence regarding the causal relationship between lipid-lowering drugs and cystic kidney disease, including polycystic kidney disease (PKD), was limited.
Zhiwen Lian, Zijie Liang, Qiyan Chen, Chao Xie, Yaozhong Kong   +4 more
doaj   +2 more sources

Kidney transcriptome and cystic kidney disease genes in zebrafish [PDF]

Frontiers in Physiology, 2023
Introduction: Polycystic kidney disease (PKD) is a condition where fluid filled cysts form on the kidney which leads to overall renal failure. Zebrafish has been recently adapted to study polycystic kidney disease, because of its powerful embryology and ...
Matthew Koslow, Ping Zhu, Chantal McCabe, Xiaolei Xu, Xiaolei Xu, Xueying Lin   +5 more
doaj   +2 more sources

Spatiotemporal dynamics and heterogeneity of renal lymphatics in mammalian development and cystic kidney disease [PDF]

Elife, 2019
Heterogeneity of lymphatic vessels during embryogenesis is critical for organ-specific lymphatic function. Little is known about lymphatics in the developing kidney, despite their established roles in pathology of the mature organ.
D. Jafree, D. Moulding, M. Kolatsi-Joannou, Nuria Perretta Tejedor, K. Price, N. Milmoe, C. Walsh, R. Correra, P. Winyard, P. Harris, C. Ruhrberg, S. Walker-Samuel, P. Riley, A. Woolf, P. Scambler, D. Long   +15 more
semanticscholar   +2 more sources

Primary Cilia in Cystic Kidney Disease. [PDF]

Results Probl Cell Differ, 2017
P. Avasthi, R. Maser, P. Tran
semanticscholar   +2 more sources

Aberrant Polycystin-1 Expression Results in Modification of Activator Protein-1 Activity, whereas Wnt Signaling Remains Unaffected [PDF]

, 2004
Polycystin-1, the polycystic kidney disease 1 gene product, has been implicated in several signaling complexes that are known to regulate essential cellular functions. We investigated the role of polycystin-1 in Wnt signaling and activator protein-1 (
Arnould, Bhunia, Duyndam, Giles, Grotewold, Huan, Kim, Kimberling, Kugoh, Loghman-Adham, Löhning, Morin, Moser, Muto, Newby, Ouwens, Parnell, Peters, Pritchard, Rivat, Rodova, Saadi-Kheddouci, Scheffers, Shaulian, Smits, Sorenson, Spaargaren, Streets, Sutters, Trudel, Upadhya, van Adelsberg, van Dam, van Dam, van Dam, van Dam, van de Wetering, van de Wetering   +37 more
core   +3 more sources

Identification of an N-terminal glycogen synthase kinase 3 phosphorylation site which regulates the functional localisation of polycystin-2 in vivo and in vitro [PDF]

, 2006
PKD2 is mutated in 15% of patients with autosomal dominant polycystic kidney disease (ADPKD). Polycystin-2 (PC2), the PKD2 protein, is a nonselective Ca2 + -permeable cation channel which may function at the cell surface and ER. Nevertheless, the factors
Kane, M.E., Moon, D.J., Obara, T., Ong, A.C.M., Streets, A.J.   +4 more
core   +2 more sources

Tumors in von Hippel–Lindau Syndrome: From Head to Toe—Comprehensive State-of-the-Art Review [PDF]

, 2018
Von Hippel–Lindau syndrome (VHL) is an autosomal-dominant hereditary tumor disease that arises owing to germline mutations in the VHL gene, located on the short arm of chromosome 3.
Bhalla, Sanjeev, Ganeshan, Dhakshinamoorthy, Lubner, Meghan G., Menias, Christine O., Pickhardt, Perry J., Ramalingam, Preetha, Sandrasegaran, Kumaresan   +6 more
core   +1 more source

c-Jun N-terminal kinase (JNK) signaling contributes to cystic burden in polycystic kidney disease.

PLoS Genetics, 2021
Polycystic kidney disease is an inherited degenerative disease in which the uriniferous tubules are replaced by expanding fluid-filled cysts that ultimately destroy organ function.
Abigail O Smith, Julie A Jonassen, Kenley M Preval, Roger J Davis, Gregory J Pazour   +4 more
doaj   +1 more source

Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease.

Journal of the American Medical Association (JAMA), 2022
Importance Most studies of autosomal dominant polycystic kidney disease (ADPKD) genetics have used kidney specialty cohorts, focusing on PKD1 and PKD2.
Alexander R. Chang, B. Moore, Jonathan Z. Luo, G. Sartori, Brian Fang, Steven Jacobs, Yoosif Abdalla, Mohammed Taher, D. Carey, W. Triffo, Gurmukteshwar Singh, T. Mirshahi   +11 more
semanticscholar   +1 more source