نتایج جستجو برای: pkhd1
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[PDF] [Full Text] [Abstract] , February , 2010; 298 (2): F365-F380. Am J Physiol Renal Physiol Nesbit, Patrik Rorsman, Olivier Devuyst, Frances M. Ashcroft and Rajesh V. Thakker Galvanovskis, Siân E. Williams, Francois Jouret, Fiona T. F. Wu, Pierre J. Courtoy, M. Andrew Anita A. C. Reed, Nellie Y. Loh, Sara Terryn, Jonathan D. Lippiat, Chris Partridge, Juris and microtubular transport: relev...
Autosomal dominant polycystic liver disease (ADPLD) is a distinct clinical and genetic entity that can occur independently from autosomal dominant polycystic kidney disease (ADPKD). We previously studied two large kindreds and reported localization of a gene for ADPLD to an approximately 8-Mb region, flanked by markers D19S586/D19S583 and D19S593/D19S579, on chromosome 19p13.2-13.1. Expansion o...
Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disease characterized by formation and progressive enlargement of cysts in kidneys, liver and other organs, leading to end stage renal disease by the fifth decade [1]. Mutations in the PKD1 gene encoding polycystin-1 are responsible for 85% of ADPKD cases, while mutations in the PKD2 gene cause 15% of ADPKD cases with a le...
Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disease characterized by formation and progressive enlargement of cysts in kidneys, liver and other organs, leading to end stage renal disease by the fifth decade [1]. Mutations in the PKD1 gene encoding polycystin-1 are responsible for 85% of ADPKD cases, while mutations in the PKD2 gene cause 15% of ADPKD cases with a le...
Autosomal recessive polycystic kidney disease (ARPKD) is a hepatorenal fibrocystic disorder that is characterized by enlarged kidneys with progressive loss of renal function and biliary duct dilatation and congenital hepatic fibrosis that leads to portal hypertension in some patients. Mutations in the PKHD1 gene are the primary cause of ARPKD; however, the disease is genetically not as homogene...
Sensory functions of primary cilia rely on ciliary-localized membrane proteins, but little is known about how these receptors are targeted to the cilium. To further our understanding of this process, we dissected the ciliary targeting sequence (CTS) of fibrocystin, the human autosomal recessive polycystic kidney disease gene product. We show that the fibrocystin CTS is an 18-residue motif local...
Autosomal recessive polycystic kidney disease (ARPKD) is characterized by the progressive dilatation of collecting ducts, the nephron segments responsible for the final renal regulation of sodium, potassium, acid-base, and water balance. Murine models of ARPKD possess mutations in genes encoding cilia-associated proteins, including Tg737 in orpk mice. New findings implicate defects in structure...
FPC (fibrocystin or polyductin) is a single transmembrane receptor-like protein, responsible for the human autosomal recessive polycystic kidney disease (ARPKD). It was recently proposed that FPC undergoes a Notch-like cleavage and subsequently the cleaved carboxy(C)-terminal fragment translocates to the nucleus. To study the functions of the isolated C-tail, we expressed the intracellular doma...
Rohatgi R, Battini L, Kim P, Israeli S, Wilson PD, Gusella GL, Satlin LM. Mechanoregulation of intracellular Ca in human autosomal recessive polycystic kidney disease cyst-lining renal epithelial cells. Am J Physiol Renal Physiol 294: F890–F899, 2008. First published February 6, 2008; doi:10.1152/ajprenal.00341.2007.—Mutations of cilia-expressed proteins are associated with an attenuated shear-...
The sensory functions of cilia are dependent on the enrichment of ciliary resident proteins. While it is known that ciliary targeting signals (CTSs) specifically target ciliary proteins to cilia, it is still unclear how CTSs facilitate the entry and retention of ciliary residents at the molecular level. We found that non-ciliary membrane reporters can passively diffuse to cilia via the lateral ...
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