polycystic kidney disease

Summary

Gene Symbol: polycystic kidney disease
Description: nephronophthisis 3 (adolescent)
Alias: 3632410F03Rik, AI550417, C230078J01, D330020E01Rik, pcy, nephrocystin-3
Species: mouse

Top Publications

  1. ncbi Linkage analysis of two murine polycystic kidney disease genes, pcy and cpk
    S Nagao
    Laboratory Animal Center, Fujita Health University, Aichi, Japan
    Jikken Dobutsu 40:557-60. 1991
  2. ncbi Murine models of polycystic kidney disease: molecular and therapeutic insights
    Lisa 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. 2003
  3. pmc Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia
    Carsten Bergmann
    Department of Human Genetics, RWTH Aachen University, 52074 Aachen, Germany
    Am J Hum Genet 82:959-70. 2008
  4. pmc 3D spheroid defects in NPHP knockdown cells are rescued by the somatostatin receptor agonist octreotide
    Amiya 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
  5. doi Calcimimetics inhibit renal pathology in rodent nephronophthisis
    Neal X Chen
    Department of Medicine, Indiana University School of Medicine, 1001 West 10th Street, Indianapolis, IN 46202, USA
    Kidney Int 80:612-9. 2011
  6. doi Differential regulation of node formation, nodal ciliogenesis and cilia positioning by Noto and Foxj1
    Leonie Alten
    Institute for Molecular Biology, Medizinische Hochschule Hannover, Carl Neuberg Strasse 1, Hannover, Germany
    Development 139:1276-84. 2012
  7. pmc Genetic identification of two major modifier loci of polycystic kidney disease progression in pcy mice
    D D Woo
    Department of Medicine, UCLA School of Medicine, Los Angeles, California 90095 1689, USA
    J Clin Invest 100:1934-40. 1997
  8. ncbi Renal carbonic anhydrase activity in DBA/2FG-pcy/pcy mice with inherited polycystic kidney disease
    S Kaneta
    Department of Pharmacotherapeutics, Hokkaido College of Pharmacy, Otaru, Japan
    Exp Anim 48:161-9. 1999
  9. ncbi Human adolescent nephronophthisis: gene locus synteny with polycystic kidney disease in pcy mice
    H Omran
    University Children s Hospital, Freiburg University, Freiburg, Germany
    J Am Soc Nephrol 12:107-13. 2001
  10. ncbi Overexpression of kidney phosphatidylinositol 4-kinasebeta and phospholipase C(gamma1) proteins in two rodent models of polycystic kidney disease
    F P Cuozzo
    Department of Biology, Texas Woman s University, Denton 76204, USA
    Biochim Biophys Acta 1587:99-106. 2002

Research Grants

Scientific Experts

  • Neal X Chen
  • Lisa M Guay-Woodford
  • DARREN WALLACE
  • H Omran
  • C Bergmann
  • D D Woo
  • Lisa Guay Woodford
  • XUENING CHEN
  • Amiya K Ghosh
  • Leonie Alten
  • Roien Ahmadie
  • Dai Shiba
  • Thomas A Natoli
  • H Takahashi
  • Friedhelm Hildebrandt
  • S Nagao
  • Heike Olbrich
  • F P Cuozzo
  • Toby Hurd
  • Karin Schuster-Gossler
  • Bärbel Ulmer
  • Anja Beckers
  • Achim Gossler
  • Jan Hegermann
  • Stephanie Groos
  • Matthias Ochs
  • Zhaohui Zhao
  • William R Dackowski
  • Sheri Bage
  • Sunil Rattan
  • Steven R Ledbetter
  • Ryan J Russo
  • Mohammed H Moghadasian
  • Elissavet Kardami
  • Oxana Ibraghimov-Beskrovnaya
  • Alexei Belenky
  • Tielan Fang
  • James A Shayman
  • Jonathan Walker
  • John P Leonard
  • Yeva Budman
  • Davinder S Jassal
  • Svetlana Komarnitsky
  • Jon Jon Santiago
  • Takahiko Yokoyama
  • Khuong Le
  • Hisashi Koga
  • Matthew Lytwyn
  • Danielle K Manning
  • Kelly A Rogers
  • Nazila Azordegan
  • Laurie A Smith
  • Nikolay O Bukanov
  • Herve Husson
  • Ian M C Dixon
  • David R Beier
  • Bing Wang
  • S Kaneta
  • H M Aukema
  • N Aziz
  • M D Griffin
  • Gürsel Sasmaz
  • Bernhard Schermer
  • Thomas Benzing
  • Corinne Antignac
  • Matthias T Wolf
  • Ralf Sudbrak
  • Edgar Otto
  • I Ebihara
  • Andreas Volz
  • Julia Hoefele
  • Manfred Fliegauf
  • Ute Trauer
  • Richard Reinhardt
  • Gerd Walz
  • V H Gattone
  • Andreas Kispert
  • Norbert Gretz
  • S Mishra
  • J Jiang
  • T Nakamura
  • M M Maxwell
  • M R Ogborn
  • S Ishizuki
  • M Kasahara
  • G Kawa
  • A Gessner
  • H Koide
  • Y Tomino
  • V E Torres

Detail Information

Publications30

  1. ncbi Linkage analysis of two murine polycystic kidney disease genes, pcy and cpk
    S Nagao
    Laboratory Animal Center, Fujita Health University, Aichi, Japan
    Jikken Dobutsu 40:557-60. 1991
    Two 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...
  2. ncbi Murine models of polycystic kidney disease: molecular and therapeutic insights
    Lisa 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. 2003
    Numerous 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-..
  3. pmc Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia
    Carsten 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 ..
  4. pmc 3D spheroid defects in NPHP knockdown cells are rescued by the somatostatin receptor agonist octreotide
    Amiya 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...
  5. doi Calcimimetics inhibit renal pathology in rodent nephronophthisis
    Neal 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...
  6. doi Differential regulation of node formation, nodal ciliogenesis and cilia positioning by Noto and Foxj1
    Leonie 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...
  7. pmc Genetic identification of two major modifier loci of polycystic kidney disease progression in pcy mice
    D D Woo
    Department of Medicine, UCLA School of Medicine, Los Angeles, California 90095 1689, USA
    J Clin Invest 100:1934-40. 1997
    Unlike 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...
  8. ncbi Renal carbonic anhydrase activity in DBA/2FG-pcy/pcy mice with inherited polycystic kidney disease
    S Kaneta
    Department of Pharmacotherapeutics, Hokkaido College of Pharmacy, Otaru, Japan
    Exp Anim 48:161-9. 1999
    DBA/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...
  9. ncbi Human adolescent nephronophthisis: gene locus synteny with polycystic kidney disease in pcy mice
    H 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 ..
  10. ncbi Overexpression of kidney phosphatidylinositol 4-kinasebeta and phospholipase C(gamma1) proteins in two rodent models of polycystic kidney disease
    F P Cuozzo
    Department of Biology, Texas Woman s University, Denton 76204, USA
    Biochim Biophys Acta 1587:99-106. 2002
    Our 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...
  11. ncbi Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis
    Heike 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...
  12. doi Tracking kidney volume in mice with polycystic kidney disease by magnetic resonance imaging
    D P Wallace
    The Kidney Institute, University of Kansas Medical Center, Kansas City, Kansas 66160 3018, USA
    Kidney Int 73:778-81. 2008
    b>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...
  13. doi Inv acts as a molecular anchor for Nphp3 and Nek8 in the proximal segment of primary cilia
    Dai 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...
  14. doi A high-lipid diet potentiates left ventricular dysfunction in nitric oxide synthase 3-deficient mice after chronic pressure overload
    Roien 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...
  15. pmc Inhibition of glucosylceramide accumulation results in effective blockade of polycystic kidney disease in mouse models
    Thomas A Natoli
    Department of Cell Biology, Genzyme Corporation, Framingham, Massachusetts, USA
    Nat Med 16:788-92. 2010
    b>Polycystic kidney disease (PKD) represents a family of genetic disorders characterized by renal cystic growth and progression to kidney failure...
  16. ncbi Cystic kidney diseases
    M 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...
  17. ncbi Genetic mapping of the polycystic kidney gene, pcy, on mouse chromosome 9
    S Nagao
    Laboratory Animal Center, Fujita Health University, Aichi, Japan
    Biochem Genet 33:401-12. 1995
    The 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...
  18. ncbi In vivo proton magnetic resonance imaging and localized spectroscopic analysis of polycystic kidney disease in DBA/2FG-pyc mice
    R A Towner
    MRI Facility, University of Guelph, Ontario, Canada
    Magn Reson Imaging 9:429-34. 1991
    Proton 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...
  19. ncbi A hereditary model of slowly progressive polycystic kidney disease in the mouse
    H Takahashi
    Laboratory Animal Center, School of Medicine, Fujita Health University, Aichi, Japan
    J Am Soc Nephrol 1:980-9. 1991
    There are two known forms of hereditary polycystic kidney disease (PKD) in humans...
  20. ncbi A new mouse model of genetically transmitted polycystic kidney disease
    H 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...
  21. ncbi Altered extracellular matrix component gene expression in murine polycystic kidney
    I 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 ..
  22. ncbi Ke 6 gene. Sequence and organization and aberrant regulation in murine polycystic kidney disease
    M 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...
  23. ncbi Renal tubule Na,K-ATPase polarity in different animal models of polycystic kidney disease
    M 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...
  24. ncbi Animal models of polycystic kidney disease
    N Aziz
    Department of Pediatrics, Harvard Medical School, Children s Hospital, Boston, MA 02115, USA
    Bioessays 17:703-12. 1995
    b>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...
  25. ncbi Sodium pump distribution is not reversed in the DBA/2FG-pcy, polycystic kidney disease model mouse
    G Kawa
    Department of Urology, Kansai Medical University, Osaka, Japan
    J Am Soc Nephrol 4:2040-9. 1994
    Recently, 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 ..
  26. pmc Recombinant soluble interleukin-4 (IL-4) receptor acts as an antagonist of IL-4 in murine cutaneous Leishmaniasis
    A 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...
  27. ncbi Growth factor gene expression in kidney of murine polycystic kidney disease
    T 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 ..
  28. ncbi Epithelial polarity and differentiation in polycystic kidney disease
    E 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 (..
  29. ncbi Renal expression of a transforming growth factor-alpha transgene accelerates the progression of inherited, slowly progressive polycystic kidney disease in the mouse
    V 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. 1996
    b>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...
  30. ncbi Abnormal lipid and fatty acid compositions of kidneys from mice with polycystic kidney disease
    H M Aukema
    University of Guelph, Department of Nutritional Sciences, Ontario, Canada
    Lipids 27:429-35. 1992
    Renal cyst development in polycystic kidney disease (PKD) involves hyperplastic growth and extensive membrane alterations, suggesting abnormal membrane composition and function...

Research Grants20

  1. Genetics and Pharmacogenetics in FSGS (PPG Project 4)
    Lisa Guay Woodford; Fiscal Year: 2007
    ....
  2. Role of Periostin in Polycystic Kidney Disease
    Darren P Wallace; Fiscal Year: 2010
    Autosomal dominant polycystic kidney disease (ADPKD) is a hyperplastic disorder in which aberrant growth of tubule epithelial cells causes the formation of numerous fluid-filled cysts, massively enlarged kidneys and progressive loss of ..
  3. Regulation of Vascular Calcification in Diabetes
    XUENING CHEN; Fiscal Year: 2007
    ....
  4. Molecular networks: programming normal renal development and modeling disease pat
    Lisa 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). ..
  5. Role of Periostin in Polycystic Kidney Disease
    DARREN WALLACE; Fiscal Year: 2009
    Autosomal dominant polycystic kidney disease (ADPKD) is a hyperplastic disorder in which aberrant growth of tubule epithelial cells causes the formation of numerous fluid-filled cysts, massively enlarged kidneys and progressive loss of ..
  6. Cystin, a lipid raft and cilia-associated protein in PKD
    Lisa Guay Woodford; Fiscal Year: 2007
    Primary cilia are dynamic, complex structures that contain >250 proteins, including several polycystic kidney disease (PKD)-related proteins...
  7. FASEB Conference -PKD Mechanisms and Clinical Impact
    Lisa 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. ..
  8. Roles of polycystin and calcium in B-Raf signaling
    DARREN WALLACE; Fiscal Year: 2004
    In autosomal dominant polycystic kidney disease (ADPKD), aberrant proliferation of tubular epithelial cells is a major factor in renal cyst formation...
  9. BIOLOGY OF EARLY RENAL CYSTOGENESIS IN THE CPK MOUSE
    Lisa Guay Woodford; Fiscal Year: 2003
    ..The cpk mouse was the first polycystic kidney disease (PKD) model to be described and as such, it has been the most extensively characterized...