Results 31 to 40 of about 43,436 (236)

Defining cellular complexity in human autosomal dominant polycystic kidney disease by multimodal single cell analysis

bioRxiv, 2021
Autosomal dominant polycystic kidney disease (ADPKD) is the leading genetic cause of end stage renal disease and is characterized by the formation and progressive expansion of kidney cysts. Most ADPKD cases arise from mutations in either the PKD1 or PKD2
Yoshiharu Muto, E. Dixon, Yasuhiro Yoshimura, Haojia Wu, K. Omachi, Andrew King, E. Olson, Marvin G Gunawan, J. Kuo, J. Cox, J. Miner, S. Seliger, O. Woodward, P. Welling, T. Watnick, B. Humphreys   +15 more
semanticscholar   +1 more source

Identification, Characterization, and Localization of a Novel Kidney Polycystin-1-Polycystin-2 Complex [PDF]

, 2002
The functions of the two proteins defective in autosomal dominant polycystic kidney disease, polycystin-1 and polycystin-2, have not been fully clarified, but it has been hypothesized that they may heterodimerize to form a "polycystin complex" involved ...
Ackermann, Bergsma, Boletta, Cai, Charron, Chen, Foggensteiner, Gallagher, Gonzalez-Perrett, Green, Grupp, Hanaoka, Huan, Hughes, Ibraghimov Beskrovnaya, Ibraghimov Beskrovnaya, Jat, Jat, Lehtonen, Lohning, Lu, Man, Markowitz, Mochizuki, Moy, Nathke, Obermuller, Olmsted, Ong, Ong, Ong, Ong, Pollack, Pritchard, Putney, Qian, Rothman, Scheffers, Tsiokas, Vassilev, Ward, Watnick, Wu, Xu   +43 more
core   +1 more source

Ferroptosis Promotes Cyst Growth in Autosomal Dominant Polycystic Kidney Disease Mouse Models

Journal of the American Society of Nephrology, 2021
Significance Statement This study demonstrates for the first time a role of ferroptosis in ADPKD. We show the Pkd1 mutation makes renal epithelial cells prone to ferroptosis through the dysregulation of iron and lipid metabolism.
Xiao-qin Zhang, L. X. Li, Hao Ding, V. Torres, Chen Yu, Xiaogang Li   +5 more
semanticscholar   +1 more source

Autosomal dominant polycystic kidney disease in Colombia

BMC Nephrology, 2023
Background Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of chronic kidney disease (CKD) that requires dialysis.
Jessica T. Camargo, Camilo A González, Lina Herrera, Nancy Yomayusa-González, Milciades Ibañez, Ana M. Valbuena-García, Lizbeth Acuña-Merchán   +6 more
doaj   +1 more source

Dual mTOR/PI3K inhibition limits PI3K-dependent pathways activated upon mTOR inhibition in autosomal dominant polycystic kidney disease [PDF]

, 2018
Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the development of kidney cysts leading to kidney failure in adulthood. Inhibition of mammalian target of rapamycin (mTOR) slows polycystic kidney disease (PKD) progression in ...
Arcaro, Alexandre, Castelletti, Deborah, Fu, Xuebin, Liu, Yang, Mischak, Harald, Mullen, William, Pejchinovski, Martin, Serra, Andreas L., Siwy, Justyna, Wang, Xueqi, Watnick, Terry J.   +10 more
core   +2 more sources

Autosomal dominant polycystic kidney disease

Srpski arhiv za celokupno lekarstvo, 2008
Autosomal dominant polycystic kiney disease is a hereditary systemic disorder, characterized by the developement of cysts, mainly in the kidney and liver, also with gastrointestinal and cardiovascular abnormalities. It affects 4 to 6 million people wordwide and accounts for end-stage renal disease in 7-10% of dialysis patients.
openaire   +3 more sources

Extracellular vesicles and exosomes generated from cystic renal epithelial cells promote cyst growth in autosomal dominant polycystic kidney disease

Nature Communications, 2021
Autosomal dominant polycystic kidney disease (ADPKD) is caused by germline mutations of PKD1 or PKD2 on one allele and a somatic mutation inactivating the remaining normal allele.
Hao Ding, L. X. Li, P. Harris, Junwei Yang, Xiaogang Li   +4 more
semanticscholar   +1 more source

An Unusual Cardiac Manifestation in Autosomal Dominant Polycystic Kidney Disease

Case Reports in Nephrology, 2012
Autosomal dominant polycystic kidney disease is a common hereditary disorder characterized by renal and extrarenal, cystic and noncystic manifestations. Connective tissue defects, including cerebral aneurysm, meningeal diverticula, abdominal wall hernias,
Fausta Catapano, Stefano Pancaldi, Carlo Pace Napoleone, Lucia Barbara De Sanctis, Gaetano Gargiulo, Giuseppe Emiliani, Antonio Santoro   +6 more
doaj   +1 more source

Polycystic Kidney Disease Drug Development: A Conference Report

Kidney Medicine, 2023
Autosomal dominant polycystic kidney disease (ADPKD) is part of a spectrum of inherited diseases that also includes autosomal recessive polycystic kidney disease, autosomal dominant polycystic liver disease, and an expanding group of recessively ...
Max C. Liebau, Djalila Mekahli, Ronald Perrone, Belle Soyfer, Sorin Fedeles   +4 more
doaj   +1 more source

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