Genomes and Genes
polycystic kidney disease
Gene Symbol: polycystic kidney disease
Description: nephronophthisis 3 (adolescent)
Alias: 3632410F03Rik, AI550417, C230078J01, D330020E01Rik, pcy, nephrocystin-3
- Linkage analysis of two murine polycystic kidney disease genes, pcy and cpkS Nagao
Laboratory Animal Center, Fujita Health University, Aichi, Japan
Jikken Dobutsu 40:557-60. 1991Two murine models of polycystic kidney disease (PKD) in humans are currently available: the infant-type cpk in mice and the adult-type pcy mutation in mice...
- Murine models of polycystic kidney disease: molecular and therapeutic insightsLisa M Guay-Woodford
Division of Genetic and Translational Medicine, Department of Medicine, University of Alabama at Birmingham, Kaul 740, 1530 3rd Ave South 19th St, Birmingham, AL 35294, USA
Am J Physiol Renal Physiol 285:F1034-49. 2003Numerous murine (mouse and rat) models of polycystic kidney disease (PKD) have been described in which the mutant phenotype results from a spontaneous mutation or engineering via chemical mutagenesis, transgenic technologies, or gene-..
- Impairment of Wnt11 function leads to kidney tubular abnormalities and secondary glomerular cystogenesisIrina I Nagy
Biocenter Oulu, Laboratory of Developmental Biology, Faculty of Biochemistry and Molecular Medicine, Oulu Center for Cell Matrix Research, University of Oulu, Aapistie 5A, Oulu, 90014, Finland
BMC Dev Biol 16:30. 2016..The presence of Wnt11 in the emerging tubular system suggests that it may have certain roles later in the development of the epithelial ductal system...
- Tubular obstruction leads to progressive proximal tubular injury and atubular glomeruli in polycystic kidney diseaseCarolina I Galarreta
Department of Pediatrics, University of Virginia, Charlottesville, Virginia
Am J Pathol 184:1957-66. 2014In polycystic kidney disease (PKD), renal parenchyma is destroyed by cysts, hypothesized to obstruct nephrons. A signature of unilateral ureteral obstruction, proximal tubular atrophy leads to formation of atubular glomeruli...
- Renal cyclooxygenase products are higher and lipoxygenase products are lower in early disease in the pcy mouse model of adolescent nephronophthisisTamio Yamaguchi
Department of Human Nutritional Sciences, University of Manitoba, W573 Duff Roblin Building, Winnipeg, MB, R3T 2N2, Canada
Lipids 49:39-47. 2014Nephronophthisis (NPHP) is a pediatric form of hereditary polycystic kidney disease (PKD), and is the leading cause of end stage renal disease in children...
- MALDI imaging MS reveals candidate lipid markers of polycystic kidney diseaseHermelindis Ruh
Institute of Instrumental Analytics and Bioanalytics, Mannheim University of Applied Sciences, 68163 Mannheim, Germany
J Lipid Res 54:2785-94. 2013Autosomal recessive polycystic kidney disease (ARPKD) is a severe, monogenetically inherited kidney and liver disease...
- Targeting of Nphp3 to the primary cilia is controlled by an N-terminal myristoylation site and coiled-coil domainsKana Nakata
Department of Anatomy and Developmental Biology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan
Cytoskeleton (Hoboken) 69:221-34. 2012..Our results showed the importance of myristoylation in ciliary trafficking, and suggest that Nphp3 trafficking to the ciliary shaft occurs in a two-step process...
- Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasiaCarsten Bergmann
Department of Human Genetics, RWTH Aachen University, 52074 Aachen, Germany
Am J Hum Genet 82:959-70. 2008..We demonstrate that the pcy mutation generates a hypomorphic Nphp3 allele that is responsible for the cystic kidney disease phenotype, whereas ..
- The mouse homeobox gene Noto regulates node morphogenesis, notochordal ciliogenesis, and left right patterningAnja Beckers
Institute for Molecular Biology, Medizinische Hochschule Hannover, Carl Neuberg Strasse 1, D 30625 Hannover, Germany
Proc Natl Acad Sci U S A 104:15765-70. 2007..Our results establish Noto as an essential regulator of node morphogenesis and ciliogenesis in the posterior notochord, and suggest Noto acts upstream of Foxj1 and Rfx3...
- 3D spheroid defects in NPHP knockdown cells are rescued by the somatostatin receptor agonist octreotideAmiya K Ghosh
Department of Pediatrics, University of Michigan Health System, 1150 West Medical Center Dr, Ann Arbor, MI 48109 5646, USA
Am J Physiol Renal Physiol 303:F1225-9. 2012..This study reveals that the loss of Nphp3, Nphp6, or Nphp8 leads to cilia abnormalities and cell polarity defects, resulting in spheroid abnormalities, which can be rescued by inhibiting cAMP levels with octreotide treatment...
- Calcimimetics inhibit renal pathology in rodent nephronophthisisNeal X Chen
Department of Medicine, Indiana University School of Medicine, 1001 West 10th Street, Indianapolis, IN 46202, USA
Kidney Int 80:612-9. 2011..and cell proliferation, while increasing intracellular calcium in immortalized human autosomal recessive polycystic kidney disease renal epithelial cells...
- Differential regulation of node formation, nodal ciliogenesis and cilia positioning by Noto and Foxj1Leonie Alten
Institute for Molecular Biology, Medizinische Hochschule Hannover, Carl Neuberg Strasse 1, Hannover, Germany
Development 139:1276-84. 2012..Thus, the function of Foxj1 in vertebrate organs of asymmetry is conserved, and Noto regulates node morphogenesis and the posterior localization of cilia on node cells independently of Foxj1...
- Overexpression of kidney phosphatidylinositol 4-kinasebeta and phospholipase C(gamma1) proteins in two rodent models of polycystic kidney diseaseF P Cuozzo
Department of Biology, Texas Woman s University, Denton 76204, USA
Biochim Biophys Acta 1587:99-106. 2002Our studies of renal phosphoinositide levels and metabolism in the pcy mouse with polycystic kidney disease (PKD) suggest that phosphatidylinositol kinase (PtdInsK) and phospholipase C (PLC) are elevated in this renal disorder...
- Human adolescent nephronophthisis: gene locus synteny with polycystic kidney disease in pcy miceH Omran
University Children s Hospital, Freiburg University, Freiburg, Germany
J Am Soc Nephrol 12:107-13. 2001..This pathology clearly resembled findings observed in the recessive pcy mouse model of late-onset polycystic kidney disease. In analogy to pcy, renal cyst development at the corticomedullary junction was found to be an early ..
- Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosisHeike Olbrich
Department of Pediatrics and Adolescent Medicine, University Hospital Freiburg, 79106 Freiburg, Germany
Nat Genet 34:455-9. 2003..In addition, we show that a homozygous missense mutation in Nphp3 is probably responsible for the polycystic kidney disease (pcy) mouse phenotype...
- Tracking kidney volume in mice with polycystic kidney disease by magnetic resonance imagingD P Wallace
The Kidney Institute, University of Kansas Medical Center, Kansas City, Kansas 66160 3018, USA
Kidney Int 73:778-81. 2008b>Polycystic kidney disease is characterized by the progressive enlargement of kidneys due to expanding fluid-filled cysts with the rate of renal volume increase held to be a marker of disease progression...
- Inv acts as a molecular anchor for Nphp3 and Nek8 in the proximal segment of primary ciliaDai Shiba
Department of Anatomy and Developmental Biology, Kyoto Prefectural University of Medicine, Japan
Cytoskeleton (Hoboken) 67:112-9. 2010..Our results indicate that Inv acts as an anchor for Nphp3 and Nek8 in the Inv compartment, and suggest that Inv compartment is a candidate site for intra-ciliary interaction of Inv, Nphp3 and Nek8...
- A high-lipid diet potentiates left ventricular dysfunction in nitric oxide synthase 3-deficient mice after chronic pressure overloadRoien Ahmadie
Institute of Cardiovascular Sciences, St Boniface General Hospital, University of Manitoba, Winnipeg, Manitoba, Canada
J Nutr 140:1438-44. 2010..A HLD potentiates LV dysfunction in NOS3(-/-) mice in a chronic pressure overload state...
- Inhibition of glucosylceramide accumulation results in effective blockade of polycystic kidney disease in mouse modelsThomas A Natoli
Department of Cell Biology, Genzyme Corporation, Framingham, Massachusetts, USA
Nat Med 16:788-92. 2010b>Polycystic kidney disease (PKD) represents a family of genetic disorders characterized by renal cystic growth and progression to kidney failure...
- Sodium pump distribution is not reversed in the DBA/2FG-pcy, polycystic kidney disease model mouseG Kawa
Department of Urology, Kansai Medical University, Osaka, Japan
J Am Soc Nephrol 4:2040-9. 1994Recently, it has been reported that Na,K-ATPase in the renal epithelia of human autosomal dominant polycystic kidney disease and cpk mouse, a murine model of autosomal recessive polycystic kidney disease, mislocates to apical plasma ..
- In vivo proton magnetic resonance imaging and localized spectroscopic analysis of polycystic kidney disease in DBA/2FG-pyc miceR A Towner
MRI Facility, University of Guelph, Ontario, Canada
Magn Reson Imaging 9:429-34. 1991Proton magnetic resonance imaging (MRI) and localized spectroscopy techniques were used to study polycystic kidney disease (PKD) in DBA/2FG-pcy (pcy) mice, which are an animal model for the adult form of human PKD...
- A hereditary model of slowly progressive polycystic kidney disease in the mouseH Takahashi
Laboratory Animal Center, School of Medicine, Fujita Health University, Aichi, Japan
J Am Soc Nephrol 1:980-9. 1991There are two known forms of hereditary polycystic kidney disease (PKD) in humans...
- A new mouse model of genetically transmitted polycystic kidney diseaseH Takahashi
J Urol 135:1280-3. 1986..This cy/cy mutant appeared to resemble human adult polycystic kidney disease in clinical course and morphology although inheritance was an autosomal recessive trait...
- Altered extracellular matrix component gene expression in murine polycystic kidneyI Ebihara
Department of Medicine, Juntendo University School of Medicine, Tokyo, Japan
Ren Physiol Biochem 18:73-80. 1995..disease that appears similar in many respects to that seen in the autosomal dominant form of human polycystic kidney disease. This study was designed to assess how the expression of extracellular matrix component genes is ..
- Ke 6 gene. Sequence and organization and aberrant regulation in murine polycystic kidney diseaseM M Maxwell
Department of Medicine, Children s Hospital, Boston, Massachusetts 02115, USA
J Biol Chem 270:25213-9. 1995..We find that Ke 6 gene expression is down-regulated in pcy mice which is a murine model of polycystic kidney disease (PKD). Thus far, Ke 6 gene expression is down-regulated in all murine models of PKD we have examined...
- Renal tubule Na,K-ATPase polarity in different animal models of polycystic kidney diseaseM R Ogborn
Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada
J Histochem Cytochem 43:785-90. 1995..enzyme Na,K-ATPase has been implicated as a feature of cyst development in in vitro studies of human polycystic kidney disease (PKD) epithelia...
- Animal models of polycystic kidney diseaseN Aziz
Department of Pediatrics, Harvard Medical School, Children s Hospital, Boston, MA 02115, USA
Bioessays 17:703-12. 1995b>Polycystic kidney disease (PKD) is one of the most prevalent causes of heritable renal failure. The disease is characterized by the occurrence of numerous fluid-filled cysts within the parenchyma of kidney...
- Abnormal lipid and fatty acid compositions of kidneys from mice with polycystic kidney diseaseH M Aukema
University of Guelph, Department of Nutritional Sciences, Ontario, Canada
Lipids 27:429-35. 1992Renal cyst development in polycystic kidney disease (PKD) involves hyperplastic growth and extensive membrane alterations, suggesting abnormal membrane composition and function...
- Recombinant soluble interleukin-4 (IL-4) receptor acts as an antagonist of IL-4 in murine cutaneous LeishmaniasisA Gessner
Institut für Klinische Mikrobiologie und Immunologie, Universitat Erlangen Nurnberg, Federal Republic of Germany
Infect Immun 62:4112-7. 1994..These results suggest a therapeutic value of sIL-4R in diseases in which neutralization of IL-4 is desirable...
- Growth factor gene expression in kidney of murine polycystic kidney diseaseT Nakamura
Department of Medicine, Juntendo University School of Medicine, Tokyo, Japan
J Am Soc Nephrol 3:1378-86. 1993..disease that appears similar in many respects to that seen in the autosomal dominant form of human polycystic kidney disease. The aim of this study was to examine the mRNA expression of growth-related proteins in kidney obtained ..
- Epithelial polarity and differentiation in polycystic kidney diseaseE D Avner
Department of Pediatrics, University of Washington, Seattle
J Cell Sci Suppl 17:217-22. 1993..Studies in a murine model of human autosomal recessive polycystic kidney disease, the C57BL/6J cpk/cpk (CPK) mouse have demonstrated quantitative (increased activity) and qualitative (..
- Renal expression of a transforming growth factor-alpha transgene accelerates the progression of inherited, slowly progressive polycystic kidney disease in the mouseV H Gattone
Department of Anatomy and Cell Biology, Kansas University Kidney and Urologic Research Center, University of Kansas Medical Center, Kansas City 66160 7400, USA
J Lab Clin Med 127:214-22. 1996b>Polycystic kidney disease (PKD) is a prevalent inherited disease in human beings. The pathogenesis of PKD is as yet unclear. The epidermal growth factor family of proteins has been implicated in PKD based largely on in vitro data...
- Genetic mapping of the polycystic kidney gene, pcy, on mouse chromosome 9S Nagao
Laboratory Animal Center, Fujita Health University, Aichi, Japan
Biochem Genet 33:401-12. 1995The murine polycystic kidney disease gene, pcy, is an autosomal recessive trait located on chromosome 9. To determine the genetic locus of pcy, 222 intraspecific backcross mice were obtained by mating C57BL/6FG-pcy and Mus molossinus...
- Cystic kidney diseasesM D Griffin
Nephrology Research Unit, Mayo Clinic and Foundation, Rochester, Minnesota 55905, USA
Curr Opin Nephrol Hypertens 6:276-83. 1997..Within the past 2 years the genes responsible for type 1 and type 2 autosomal dominant polycystic kidney disease have been identified...
- Genetic identification of two major modifier loci of polycystic kidney disease progression in pcy miceD D Woo
Department of Medicine, UCLA School of Medicine, Los Angeles, California 90095 1689, USA
J Clin Invest 100:1934-40. 1997Unlike the uniform disease progression in inbred animals, polycystic kidney disease (PKD) progression within human families can be highly variable. This may be due to environmental or genetic factors or both...
- Renal carbonic anhydrase activity in DBA/2FG-pcy/pcy mice with inherited polycystic kidney diseaseS Kaneta
Department of Pharmacotherapeutics, Hokkaido College of Pharmacy, Otaru, Japan
Exp Anim 48:161-9. 1999DBA/2FG-pcy/pcy (D2-pcy) mice are a hereditary murine model of slowly progressive polycystic kidney disease (PKD) and characterized by the persistent excretion of acidic urine, in association with polyuria, after weaning...
- Genetics and Pharmacogenetics in FSGS (PPG Project 4)Lisa Guay Woodford; Fiscal Year: 2007..unreadable]..
- Regulation of Vascular Calcification in DiabetesXUENING CHEN; Fiscal Year: 2007....
- Roles of polycystin and calcium in B-Raf signalingDARREN WALLACE; Fiscal Year: 2004In autosomal dominant polycystic kidney disease (ADPKD), aberrant proliferation of tubular epithelial cells is a major factor in renal cyst formation...
- FASEB Conference -PKD Mechanisms and Clinical ImpactLisa Guay Woodford; Fiscal Year: 2005..By allowing ample time for scientific exchanges and critical discussion, the conference will serve as a conduit for exploring new experimental ideas and fostering new research collaborations. ..
- Molecular networks: programming normal renal development and modeling disease patLisa Guay Woodford; Fiscal Year: 2007..The meeting will be held in Pecs, Hungary from August 27-30, 2007, immediately preceding the 14th IPNA Congress in Budapest, Hungary (August 31- September 4, 2007). [unreadable] [unreadable] [unreadable]..
- Cystin, a lipid raft and cilia-associated protein in PKDLisa Guay Woodford; Fiscal Year: 2008..Primary cilia are dynamic, complex structures that contain >250 proteins, including several polycystic kidney disease (PKD)-related proteins...