autosomal recessive polycystic kidney

Summary

Summary: A genetic disorder with autosomal recessive inheritance, characterized by multiple CYSTS in both KIDNEYS and associated LIVER lesions. Serious manifestations are usually present at BIRTH with high PERINATAL MORTALITY.

Top Publications

  1. ncbi Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD)
    Magdalena Adeva
    Division of Nephrology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Medicine (Baltimore) 85:1-21. 2006
  2. ncbi The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein
    Christopher J Ward
    Division of Nephrology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota 55905, USA
    Nat Genet 30:259-69. 2002
  3. ncbi Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia
    Christopher J Ward
    Division of Nephrology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Hum Mol Genet 12:2703-10. 2003
  4. ncbi Calcium restores a normal proliferation phenotype in human polycystic kidney disease epithelial cells
    Tamio Yamaguchi
    Kidney Institute, Department of Medicine, University of Kansas Medical Center, 3901 Rainbow Boulevard, MSN 3018, Kansas City, KS 66160, USA
    J Am Soc Nephrol 17:178-87. 2006
  5. ncbi Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)
    Carsten Bergmann
    Institute of Human Genetics, Aachen University, Aachen, Germany
    J Am Soc Nephrol 14:76-89. 2003
  6. ncbi Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology
    K Zerres
    Institute for Human Genetics, University of Bonn, Germany
    Am J Med Genet 76:137-44. 1998
  7. ncbi Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease
    Erick Denamur
    Assistance Publique Hopitaux de Paris, Universite Paris Diderot, Hopital Robert Debre, Laboratoire de Biochimie Genetique, INSERM U722, Paris, France
    Kidney Int 77:350-8. 2010
  8. pmc Autosomal recessive polycystic kidney disease epithelial cell model reveals multiple basolateral epidermal growth factor receptor sorting pathways
    Sean Ryan
    Department of Molecular Biology and Microbiology, School of Medicine, Case Western Reserve University, Cleveland, OH 44106 4970, USA
    Mol Biol Cell 21:2732-45. 2010
  9. ncbi Molecular genetics of autosomal recessive polycystic kidney disease
    Peter C Harris
    Division of Nephrology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Mol Genet Metab 81:75-85. 2004
  10. ncbi New rat model that phenotypically resembles autosomal recessive polycystic kidney disease
    J Nauta
    Department of Pediatrics, Erasmus Medical Center Rotterdam, Rotterdam, The Netherlands
    J Am Soc Nephrol 11:2272-84. 2000

Detail Information

Publications196 found, 100 shown here

  1. ncbi Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD)
    Magdalena Adeva
    Division of Nephrology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Medicine (Baltimore) 85:1-21. 2006
    ..The current study indicates a broadened spectrum for the ARPKD phenotype and that later presenting cases with predominant liver disease should be considered part of ARPKD...
  2. ncbi The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein
    Christopher J Ward
    Division of Nephrology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota 55905, USA
    Nat Genet 30:259-69. 2002
    b>Autosomal recessive polycystic kidney disease (ARPKD) is characterized by dilation of collecting ducts and by biliary dysgenesis and is an important cause of renal- and liver-related morbidity and mortality...
  3. ncbi Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia
    Christopher J Ward
    Division of Nephrology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Hum Mol Genet 12:2703-10. 2003
    b>Autosomal recessive polycystic kidney disease (ARPKD) is an infantile form of PKD characterized by fusiform dilation of collecting ducts and congenital hepatic fibrosis...
  4. ncbi Calcium restores a normal proliferation phenotype in human polycystic kidney disease epithelial cells
    Tamio Yamaguchi
    Kidney Institute, Department of Medicine, University of Kansas Medical Center, 3901 Rainbow Boulevard, MSN 3018, Kansas City, KS 66160, USA
    J Am Soc Nephrol 17:178-87. 2006
    ..Thus, increases in [Ca2+]i are able to restore the normal anti-mitogenic response to cAMP in cells that are derived from two genetically distinct forms of PKD...
  5. ncbi Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)
    Carsten Bergmann
    Institute of Human Genetics, Aachen University, Aachen, Germany
    J Am Soc Nephrol 14:76-89. 2003
    b>Autosomal recessive polycystic kidney disease (ARPKD/PKHD1) is an important cause of renal-related and liver-related morbidity and mortality in childhood. Recently mutations in the PKHD1 gene on chromosome 6p21...
  6. ncbi Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology
    K Zerres
    Institute for Human Genetics, University of Bonn, Germany
    Am J Med Genet 76:137-44. 1998
    b>Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common hereditary renal cystic diseases and has a high infant mortality. Prenatal diagnosis using fetal sonography can be unreliable, especially in early pregnancy...
  7. ncbi Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease
    Erick Denamur
    Assistance Publique Hopitaux de Paris, Universite Paris Diderot, Hopital Robert Debre, Laboratoire de Biochimie Genetique, INSERM U722, Paris, France
    Kidney Int 77:350-8. 2010
    The prognosis of autosomal recessive polycystic kidney disease is known to correlate with genotype...
  8. pmc Autosomal recessive polycystic kidney disease epithelial cell model reveals multiple basolateral epidermal growth factor receptor sorting pathways
    Sean Ryan
    Department of Molecular Biology and Microbiology, School of Medicine, Case Western Reserve University, Cleveland, OH 44106 4970, USA
    Mol Biol Cell 21:2732-45. 2010
    ..They also indicate for the first time that the Bicc1 gene that is defective in the mouse model used in these studies regulates cargo-specific protein sorting mediated by the epithelial cell specific clathrin adaptor AP-1B...
  9. ncbi Molecular genetics of autosomal recessive polycystic kidney disease
    Peter C Harris
    Division of Nephrology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Mol Genet Metab 81:75-85. 2004
    b>Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of inherited childhood nephropathy ( approximately 1:20,000 live births) characterized by fusiform dilatation of collecting ducts and congenital hepatic fibrosis...
  10. ncbi New rat model that phenotypically resembles autosomal recessive polycystic kidney disease
    J Nauta
    Department of Pediatrics, Erasmus Medical Center Rotterdam, Rotterdam, The Netherlands
    J Am Soc Nephrol 11:2272-84. 2000
    ....
  11. ncbi A novel gene encoding a TIG multiple domain protein is a positional candidate for autosomal recessive polycystic kidney disease
    Huaqi Xiong
    Departments of Medicine, Vanderbilt University, Nashville, Tennessee 37232, USA
    Genomics 80:96-104. 2002
    b>Autosomal recessive polycystic kidney disease (ARPKD) is a common hereditary renal cystic disease in infants and children...
  12. ncbi Na transport in autosomal recessive polycystic kidney disease (ARPKD) cyst lining epithelial cells
    Rajeev Rohatgi
    Division of Renal Medicine, Mount Sinai School of Medicine, New York, New York 10029, USA
    J Am Soc Nephrol 14:827-36. 2003
    ..Whether Na absorption is mediated by ENaC, perhaps of nonclassical subunit composition, or another amiloride-sensitive transporter remains to be determined...
  13. ncbi PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)
    Carsten Bergmann
    Department of Human Genetics, Aachen University, Aachen, Germany
    Hum Mutat 23:453-63. 2004
    b>Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of childhood renal- and liver-related morbidity and mortality. The clinical spectrum is widely variable...
  14. ncbi Molecular basis of autosomal recessive polycystic kidney disease (ARPKD)
    Lulu Al-Bhalal
    Department of Pathology and Laboratory Medicine, King Khalid University Hospital Riyadh, Saudi Arabia
    Adv Anat Pathol 15:54-8. 2008
    b>Autosomal recessive polycystic kidney disease (ARPKD) is a serious genetic disease characterized by cystic changes in the collecting ducts of the kidney and bile ducts within the liver...
  15. ncbi PKHD1 gene silencing may cause cell abnormal proliferation through modulation of intracellular calcium in autosomal recessive polycystic kidney disease
    Jiyun Yang
    Department of Medical Genetics, West China Hospital, Sichuan University, Guoxue Xiang No 37, Chengdu 610041, PR China
    J Biochem Mol Biol 40:467-74. 2007
    b>Autosomal recessive polycystic kidney disease (ARPKD) is one of the important genetic disorders in pediatric practice. Mutation of the polycystic kidney and hepatic disease gene 1 (PKHD1) was identified as the cause of ARPKD...
  16. pmc PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis
    Meral Gunay-Aygun
    Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA
    Mol Genet Metab 99:160-73. 2010
    PKHD1, the gene mutated in autosomal recessive polycystic kidney disease (ARPKD)/congenital hepatic fibrosis (CHF), is an exceptionally large and complicated gene that consists of 86 exons and has a number of alternatively spliced ..
  17. ncbi Development of autosomal recessive polycystic kidney disease in BALB/c-cpk/cpk mice
    J L Ricker
    Department of Anatomy and Cell Biology, The University of Kansas Medical Center, Kansas City, Kansas, USA
    J Am Soc Nephrol 11:1837-47. 2000
    b>Autosomal recessive polycystic kidney disease (ARPKD) is a rare but devastating inherited disease in humans. Various strains of mice that are homozygous for the cpk gene display renal pathology similar to that seen in human ARPKD...
  18. ncbi Murine autosomal recessive polycystic kidney disease with multiorgan involvement induced by the cpk gene
    V H Gattone
    Department of Anatomy and Cell Biology, Kansas University Kidney and Urological Research Center, Kansas City 66160 7400, USA
    Anat Rec 245:488-99. 1996
    ..The C57BL/6J-cpk/cpk mouse model of ARPKD is the most extensively studied murine model of inherited infantile PKD; however, these mice lack extrarenal pathology...
  19. ncbi Temporal relationship between renal cyst development, hypertension and cardiac hypertrophy in a new rat model of autosomal recessive polycystic kidney disease
    Jacqueline K Phillips
    Division of Health Sciences, School of Veterinary and Biomedical Science, Murdoch University, Perth, Australia
    Kidney Blood Press Res 30:129-44. 2007
    ....
  20. ncbi Autosomal recessive polycystic kidney disease: radiologic-pathologic correlation
    G J Lonergan
    Department of Radiology and Nuclear Medicine, Uniformed Services University of the Health Sciences, Bethesda, MD, USA
    Radiographics 20:837-55. 2000
    b>Autosomal recessive polycystic kidney disease is a heritable but phenotypically variable disorder characterized by varying degrees of nonobstructive renal collecting duct ectasia, hepatic biliary duct ectasia and malformation, and ..
  21. ncbi High-resolution renal sonography in children with autosomal recessive polycystic kidney disease
    Jeffrey Traubici
    Department of Diagnostic Imaging, The Hospital for Sick Children, The University of Toronto, 555 University Ave, Toronto, Ontario M5S 1A1, Canada
    AJR Am J Roentgenol 184:1630-3. 2005
    Our objective was to describe the spectrum of renal findings using a high-frequency linear array transducer in patients with autosomal recessive polycystic kidney disease (ARPKD).
  22. pmc Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF)
    Baris Turkbey
    Molecular Imaging Program, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA
    Pediatr Radiol 39:100-11. 2009
    ....
  23. ncbi Kidney cysts, pancreatic cysts, and biliary disease in a mouse model of autosomal recessive polycystic kidney disease
    Scott S Williams
    Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75390, USA
    Pediatr Nephrol 23:733-41. 2008
    Mutations in PKHD1 cause autosomal recessive polycystic kidney disease (ARPKD). We produced a mouse model of ARPKD by replacing exons 1-3 of Pkhd1 with a lacZ reporter gene utilizing homologous recombination...
  24. pmc Src inhibition ameliorates polycystic kidney disease
    William E Sweeney
    Children s Research Institute, Children s Hospital Health System of Wisconsin, Medical College of Wisconsin, Milwaukee, Wisconsin, USA
    J Am Soc Nephrol 19:1331-41. 2008
    ..These data suggest that Src inhibition may provide therapeutic benefit in PKD...
  25. pmc Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD)
    C Bergmann
    Department of Human Genetics, Aachen University, Germany
    J Med Genet 42:e63. 2005
    b>Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 (polycystic kidney and hepatic disease 1) gene on chromosome 6p12, a large gene spanning 470 kb of genomic DNA...
  26. pmc Renin-angiotensin system activation in congenital hepatic fibrosis in the PCK rat model of autosomal recessive polycystic kidney disease
    Miwa Goto
    Department of Research, MetroHealth Medical Center, Case Western Reserve University, Cleveland, OH 44109, USA
    J Pediatr Gastroenterol Nutr 50:639-44. 2010
    Congenital hepatic fibrosis (CHF) is an important cause of morbidity and mortality in patients with autosomal recessive polycystic kidney disease (ARPKD). The pathogenesis of CHF remains undefined...
  27. pmc Biliary dysgenesis in the PCK rat, an orthologous model of autosomal recessive polycystic kidney disease
    Tatyana V Masyuk
    Mayo Medical School, Clinic and Foundation, 200 First St, SW, Rochester, MN 55905, USA
    Am J Pathol 165:1719-30. 2004
    ..Our results suggest that the PCK rat is a useful model for studies of biliary cystogenesis and treatment options of inherited cystic liver disease...
  28. pmc The cAMP effectors Epac and protein kinase a (PKA) are involved in the hepatic cystogenesis of an animal model of autosomal recessive polycystic kidney disease (ARPKD)
    Jesus M Banales
    Miles and Shirley Fiterman Center for Digestive Diseases, Division of Gastroenterology and Hepatology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Hepatology 49:160-74. 2009
    PCK rats, an animal model of autosomal recessive polycystic kidney disease (ARPKD), develop cholangiocyte-derived liver cysts associated with increased intracellular adenosine 3',5'-cyclic adenosine monophosphate (cAMP), the inhibition ..
  29. ncbi An autosomal recessive polycystic kidney disease gene homolog is involved in intraflagellar transport in C. elegans ciliated sensory neurons
    H Qin
    Department of Molecular, Cellular, and Developmental Biology, Yale University, New Haven, CT 06520, USA
    Curr Biol 11:457-61. 2001
    ..the Caenorhabditis elegans gene osm-5 is homologous to the Chlamydomonas gene IFT88 and the mouse autosomal recessive polycystic kidney disease (ARPKD) gene, Tg737...
  30. ncbi Delayed cystogenesis and increased ciliogenesis associated with the re-expression of polaris in Tg737 mutant mice
    Nicole E Brown
    Rainbow Center for Childhood Polycystic Kidney Disease, Department of Pediatrics, Case Western Reserve University, Cleveland, Ohio 44106 6003, USA
    Kidney Int 63:1220-9. 2003
    ..Scanning electron microscopy was utilized to observe and measure cilia expression in cysts from orpk, orpk rescue, and KO rescue animals...
  31. ncbi Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease
    Mark B Consugar
    Division of Nephrology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Am J Kidney Dis 45:77-87. 2005
    b>Autosomal recessive polycystic kidney disease (ARPKD) is characterized by wide phenotypic variability, ranging from in utero detection with enlarged, echogenic kidneys to an adult presentation with congenital hepatic fibrosis...
  32. ncbi Molecular and cellular pathophysiology of autosomal recessive polycystic kidney disease (ARPKD)
    William E Sweeney
    Children s Research Institute, Children s Hospital Health System of Wisconsin, Medical College of Wisconsin, Milwaukee, WI 53226, USA
    Cell Tissue Res 326:671-85. 2006
    b>Autosomal recessive polycystic kidney disease (ARPKD) belongs to a group of congenital hepatorenal fibrocystic syndromes characterized by dual renal and hepatic involvement of variable severity...
  33. pmc Hepatic cystogenesis is associated with abnormal expression and location of ion transporters and water channels in an animal model of autosomal recessive polycystic kidney disease
    Jesus M Banales
    Miles and Shirley Fiterman Center for Digestive Diseases, Division of Gastroenterology and Hepatology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Am J Pathol 173:1637-46. 2008
    Polycystic kidney (PCK) rats are a spontaneous model of autosomal recessive polycystic kidney disease that exhibit cholangiocyte-derived liver cysts...
  34. ncbi Octreotide inhibits hepatic cystogenesis in a rodent model of polycystic liver disease by reducing cholangiocyte adenosine 3',5'-cyclic monophosphate
    Tatyana V Masyuk
    Center for Basic Research in Digestive Diseases, Division of Gastroenterology and Hepatology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Gastroenterology 132:1104-16. 2007
    ..octreotide (an analogue of somatostatin known to inhibit cAMP) in hepatic cyst growth using an in vitro model of cystogenesis and an in vivo animal model of autosomal recessive polycystic kidney disease (ARPKD), one of the PCLDs.
  35. pmc Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference
    Meral Gunay-Aygun
    National Human Genome Research Institute, the Molecular Imaging Program, National Cancer Institute, The National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892 1851, USA
    J Pediatr 149:159-64. 2006
  36. ncbi Effectiveness of vasopressin V2 receptor antagonists OPC-31260 and OPC-41061 on polycystic kidney disease development in the PCK rat
    Xiaofang Wang
    Mayo Foundation, Rochester, Minnesota, USA
    J Am Soc Nephrol 16:846-51. 2005
    ....
  37. ncbi Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice
    J H Moyer
    University of Tennessee Graduate School of Biomedical Sciences, Biology Division, Oak Ridge National Laboratory, TN 37831 8077
    Science 264:1329-33. 1994
    ..mice was generated that contains an insertional mutation causing a phenotype similar to human autosomal recessive polycystic kidney disease...
  38. ncbi Autosomal recessive polycystic kidney disease (ARPKD)
    Klaus Zerres
    Institute for Human Genetics, Aachen University of Technology, Aachen, Germany
    J Nephrol 16:453-8. 2003
    b>Autosomal recessive polycystic kidney disease (ARPKD) is an important hereditary early childhood nephropathy. However, the clinical ARPKD spectrum is much more variable than is generally presumed...
  39. ncbi Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD)
    Carsten Bergmann
    Department of Human Genetics, Aachen University, Aachen, Germany
    Hum Mutat 25:225-31. 2005
    b>Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of childhood renal- and liver-related morbidity and mortality with variable disease expression...
  40. ncbi Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen
    K Zerres
    Institut für Humangenetik der Universität Bonn, Germany
    Nat Genet 7:429-32. 1994
    b>Autosomal recessive polycystic kidney disease (ARPKD) is one of the major hereditary nephropathies in children predominantly presenting in early childhood. The clinical picture is variable but there is a fatal outcome in many cases...
  41. ncbi A new mouse model for autosomal recessive polycystic kidney disease
    Laura Chittenden
    Biology and Biotechnology Research Program, Lawrence Livermore National Laboratory, L 452, 7000 East Avenue, Livermore, California 94550, USA
    Genomics 79:499-504. 2002
    ..large-scale mutagenesis studies, we discovered a mutant that provides a new mouse model for human autosomal recessive polycystic kidney disease...
  42. ncbi Mechanisms of Disease: autosomal dominant and recessive polycystic kidney diseases
    Vicente E Torres
    Mayo Clinic College of Medicine, Eisenberg S33B, Nephrology, 200 First St SW, Rochester, MN 55905, USA
    Nat Clin Pract Nephrol 2:40-55; quiz 55. 2006
    Autosomal dominant polycystic kidney disease and autosomal recessive polycystic kidney disease are the best known of a large family of inherited diseases characterized by the development of renal cysts of tubular epithelial cell origin...
  43. ncbi Chronic treatment with lisinopril decreases proliferative and apoptotic pathways in autosomal recessive polycystic kidney disease
    Guangfu Jia
    Department of Medicine, Division of Nephrology, Medical College of Wisconsin, 8701 Watertown Plank Road, HRC 4100, Milwaukee, WI 53226, USA
    Pediatr Nephrol 25:1139-46. 2010
    Angiotensin converting enzyme (ACE) inhibition is a common therapeutic modality in the treatment of autosomal recessive polycystic kidney disease (ARPKD)...
  44. ncbi New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene
    K Zerres
    Institute for Human Genetics, Aachen University of Technology, Aachen, Germany
    Clin Genet 66:53-7. 2004
    Due to the poor prognosis of severe autosomal recessive polycystic kidney disease (ARPKD), there is a strong demand for prenatal diagnosis (PD). Reliable PD testing is possible by molecular genetic analysis only...
  45. ncbi A plethora of epidermal growth factor-like proteins in polycystic kidneys
    Patricia D Wilson
    Kidney Int 65:2441-2. 2004
  46. ncbi PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD)
    Carsten Bergmann
    Department of Human Genetics, Aachen University, Aachen, Germany
    Hum Mutat 23:487-95. 2004
    b>Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common hereditary renal cystic diseases in children. The clinical spectrum ranges from stillbirth and neonatal demise to survival into adulthood...
  47. ncbi The autosomal recessive polycystic kidney disease protein is localized to primary cilia, with concentration in the basal body area
    Shixuan Wang
    Renal Division, Department of Medicine, Brigham and Women s Hospital and Harvard Medical School, Boston, MA 02115, USA
    J Am Soc Nephrol 15:592-602. 2004
    ..FPC), the protein product encoded by the PKHD1 gene that is responsible for autosomal recessive polycystic kidney disease among human subjects, is also a component of primary cilia in the kidney, antipeptide ..
  48. ncbi Abnormal EGF-dependent regulation of sodium absorption in ARPKD collecting duct cells
    I Elias Veizis
    Department of Pediatrics and Physiology and Biophysics, Rainbow Center for Childhood Polycystic Kidney Disease, Case Western Reserve University, Cleveland, OH 44106 4948, USA
    Am J Physiol Renal Physiol 288:F474-82. 2005
    ..The results of these studies reveal that the mislocalized apical EGF receptors are functionally coupled to the ERK pathway and that abnormal EGF-dependent regulation of ENaC function and expression may contribute to PKD pathophysiology...
  49. ncbi Decreased amiloride-sensitive Na+ absorption in collecting duct principal cells isolated from BPK ARPKD mice
    Elias I Veizis
    Department of Pediatrics, Rainbow Center for Childhood PKD, Case Western Reserve University, Cleveland, OH 44106 4948, USA
    Am J Physiol Renal Physiol 286:F244-54. 2004
    ....
  50. ncbi A mouse model of autosomal recessive polycystic kidney disease with biliary duct and proximal tubule dilatation
    J R Woollard
    Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Kidney Int 72:328-36. 2007
    b>Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the polycystic kidney and hepatic disease (PKHD1) gene encoding the protein fibrocystin/polyductin...
  51. pmc MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome
    Meral Gunay-Aygun
    Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA
    J Pediatr 155:386-92.e1. 2009
    To describe 3 children with mutations in a Meckel syndrome gene (MKS3), with features of autosomal recessive polycystic kidney disease (ARPKD), nephronophthisis, and Joubert syndrome (JS).
  52. ncbi A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD)
    Markus Moser
    Max Planck Institute of Biochemistry, Martinsried, Germany
    Hepatology 41:1113-21. 2005
    b>Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of liver- and renal-related morbidity and mortality in childhood...
  53. ncbi Intracranial aneurysms in a child with autosomal recessive polycystic kidney disease
    M I Lilova
    Clinic of Pediatric Nephrology, University Childrens s Hospital, ul Ianko Zabunov bl 40, 1408 Sofia, Bulgaria
    Pediatr Nephrol 16:1030-2. 2001
    ..There is only one report about ICA in an adult patient with autosomal recessive polycystic kidney disease (ARPKD). We observed a 2-year, 6-month old girl with ARPKD and multiple ICA...
  54. ncbi Renal and biliary abnormalities in a new murine model of autosomal recessive polycystic kidney disease
    J Nauta
    Department of Pediatrics, Sophia Children s Hospital, Rotterdam, The Netherlands
    Pediatr Nephrol 7:163-72. 1993
    Current models of autosomal recessive polycystic kidney disease (ARPKD) fail to demonstrate biliary abnormalities in association with renal cysts...
  55. ncbi Development and characterization of a cholangiocyte cell line from the PCK rat, an animal model of Autosomal Recessive Polycystic Kidney Disease
    Melissa A Muff
    Center for Basic Research in Digestive Disease, Division of Gastroenterology and Hepatology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Lab Invest 86:940-50. 2006
    In the PCK rat, a rodent model of Autosomal Recessive Polycystic Kidney Disease (ARPKD), a spontaneous splicing mutation of Pkhd1 initiates hepatic cyst development...
  56. ncbi Phenotypic analysis of conditionally immortalized cells isolated from the BPK model of ARPKD
    W E Sweeney
    Department of Pediatrics, Rainbow Babies and Children's Hospital and Case Western Reserve University, Cleveland, OH 44106-6003, USA
    Am J Physiol Cell Physiol 281:C1695-705. 2001
    To study the pathophysiology of autosomal recessive polycystic kidney disease (ARPKD), we sought to develop conditionally immortalized control and cystic murine collecting tubule (CT) cell lines...
  57. ncbi Autosomal recessive polycystic kidney disease: outcomes from a single-center experience
    Rhona Capisonda
    Division of Nephrology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario M5G1X8, Canada
    Pediatr Nephrol 18:119-26. 2003
    b>Autosomal recessive polycystic kidney disease (ARPKD) is a relatively common form of pediatric polycystic kidney disease with an incidence of 1:20,000 live births...
  58. ncbi Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD)
    Monique Losekoot
    Center for Human and Clinical Genetics, Sylvius Laboratory, Leiden University Medical Center, Wassenaarseweg 72, 2333, AL, Leiden, The Netherlands
    Hum Genet 118:185-206. 2005
    b>Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of polycystic kidney disease characterized by enlarged kidneys and congenital hepatic fibrosis...
  59. ncbi Liver disease in autosomal recessive polycystic kidney disease
    Benjamin L Shneider
    Recanati Miller Transplantation Institute, New York, USA
    Pediatr Transplant 9:634-9. 2005
    Hepatic complications occur in a significant proportion of children with autosomal recessive polycystic kidney disease (ARPKD)...
  60. pmc Differential rescue of the renal and hepatic disease in an autosomal recessive polycystic kidney disease mouse mutant. A new model to study the liver lesion
    B K Yoder
    Life Sciences Division, Oak Ridge National Laboratory, Tennessee, USA
    Am J Pathol 150:2231-41. 1997
    b>Autosomal recessive polycystic kidney disease (ARPKD) is characterized by biliary and renal lesions that produce significant morbidity and mortality...
  61. ncbi Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease
    Sandro Rossetti
    Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    J Am Soc Nephrol 18:1374-80. 2007
    ..The information that is now available on both genes is of considerable prognostic value with the prospects from the ongoing genetic revolution that additional risk factors will be revealed...
  62. ncbi Role of CFTR in autosomal recessive polycystic kidney disease
    K Nakanishi
    Rainbow Center for Childhood PKD, Department of Pediatrics, Rainbow Babies and Children s Hospital and Case Western Reserve University, 11100 Euclid Avenue, Cleveland, OH 44106, USA
    J Am Soc Nephrol 12:719-25. 2001
    ..studies have addressed the pathophysiology of fluid secretion in cyst formation and enlargement in autosomal recessive polycystic kidney disease (ARPKD)...
  63. ncbi Primary cilia and regulation of renal Na+ transport. Focus on "Heightened epithelial Na+ channel-mediated Na+ absorption in a murine polycystic kidney disease model epithelium lacking apical monocilia"
    M A Gray
    Am J Physiol Cell Physiol 290:C947-9. 2006
  64. ncbi [Polycystic kidney diseases: molecular genetics and counselling]
    James Lespinasse
    Division de génétique médicale, Hopital Sainte Justine, Montreal, Quebec, Canada
    Nephrol Ther 2:120-6. 2006
    ..b>Autosomal recessive polycystic kidney disease (ARPKD) is a rare (1/20,000 to 1/40,000) inherited disease in children characterized by ..
  65. ncbi Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease
    Carsten Bergmann
    Department of Human Genetics, Aachen University, Pauwelsstrasse 30, 52074, Aachen, Germany
    J Hum Genet 51:788-93. 2006
    b>Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 (polycystic kidney and hepatic disease 1) gene on chromosome 6p12...
  66. ncbi Molecular and cellular pathogenesis of autosomal recessive polycystic kidney disease
    L F Menezes
    Disciplina de Nefrologia, Departamento de Clinica Medica, Faculdade de Medicina, Universidade de Sao Paulo, Av Dr Arnaldo 455, Sala 3310, 01246 903 Sao Paulo, SP, Brazil
    Braz J Med Biol Res 39:1537-48. 2006
    b>Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disease characterized by a malformation complex which includes cystically dilated tubules in the kidneys and ductal plate malformation in the liver...
  67. ncbi Cystic kidney diseases: learning from animal models
    Evelyne Fischer
    Nephrol Dial Transplant 19:2700-2. 2004
  68. pmc Inhibition of Pkhd1 impairs tubulomorphogenesis of cultured IMCD cells
    Weiyi Mai
    Department of Medicine, Vanderbilt University, Nashville, TN 37232, USA
    Mol Biol Cell 16:4398-409. 2005
    Fibrocystin/polyductin (FPC), the gene product of PKHD1, is responsible for autosomal recessive polycystic kidney disease (ARPKD). This disease is characterized by symmetrically large kidneys with ectasia of collecting ducts...
  69. ncbi [From gene to disease; PKHD1 and recessive polycystic kidney disease]
    D J M Peters
    Afd Humane Genetica, Leids Universitair Medisch Centrum, Centrum voor Humane en Klinische Genetica, Postbus 9600, 2300 RC Leiden
    Ned Tijdschr Geneeskd 149:463-6. 2005
    b>Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of polycystic kidney disease characterised by enlarged kidneys and congenital hepatic fibrosis...
  70. ncbi [The genetic background of congenital nephrotic syndrome]
    Danuta Zwolinska
    Katedra i Klinika Nefrologii Pediatrycznej, Akademii Medycznej we Wrocławiu
    Przegl Lek 63:10-1. 2006
  71. ncbi Caenorhabditis elegans as a model to study renal development and disease: sexy cilia
    Maureen M Barr
    School of Pharmacy, University of Wisconsin at Madison, 777 Highland Avenue, Madison, WI 53705, USA
    J Am Soc Nephrol 16:305-12. 2005
    ..The goal of this review is to explain how C. elegans has provided insight into cilia development, cilia function, and human cystic kidney diseases...
  72. ncbi Mechanoregulation of intracellular Ca2+ concentration is attenuated in collecting duct of monocilium-impaired orpk mice
    Wen Liu
    Department of Pediatrics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Am J Physiol Renal Physiol 289:F978-88. 2005
    b>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...
  73. pmc Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts
    A M Sharp
    J Med Genet 42:336-49. 2005
  74. ncbi Successful transplantation in a child with rapid progression of autosomal recessive polycystic kidney disease associated with a novel mutation
    Martina Prelog
    Department of Pediatrics, Medical University Innsbruck, Innsbruck, Austria
    Pediatr Transplant 10:362-6. 2006
    b>Autosomal recessive polycystic kidney disease (ARPKD) is the most common pediatric renal cystic disease with liver involvement...
  75. ncbi Heightened epithelial Na+ channel-mediated Na+ absorption in a murine polycystic kidney disease model epithelium lacking apical monocilia
    Dragos Olteanu
    Department of Physiology, Univ of Alabama at Birmingham, MCLM 740, 1918 University Blvd, 35294 0005, USA
    Am J Physiol Cell Physiol 290:C952-63. 2006
    The Tg737 degrees (rpk) autosomal recessive polycystic kidney disease (ARPKD) mouse carries a hypomorphic mutation in the Tg737 gene...
  76. ncbi Genetic studies: a key to understanding pathogenesis in PKD
    Peter C Harris
    Division of Nephrology, Department of Internal Medicine, at the Mayo Clinic in Rochester, Minn, USA
    Nephrol News Issues 20:20-2. 2006
  77. ncbi Autosomal recessive polycystic kidney disease. Clinical and genetic profile. (Review and a case report)
    Jordan D Dimitrakov
    Department of Nephrology, Medical University, Plovdiv, Bulgaria
    Folia Med (Plovdiv) 45:5-7. 2003
    b>Autosomal recessive polycystic kidney disease (ARPKD) is a genetic disorder inherited in a recessive manner. The ARPKD gene is located on chromosome 6. The disease is characterised by specific changes in the kidney and liver.
  78. pmc The Jeremiah Metzger Lecture. Polycystic kidney disease: old disease in a new context
    Jared J Grantham
    Kidney Institute, Departments of Internal Medicine, Biochemistry and Molecular Biology, Kansas University Medical Center, 3901 Rainbow Blvd, Kansas City, KS 66160, USA
    Trans Am Clin Climatol Assoc 113:211-24; discussion 224-6. 2002
    ..The chromosomal location of the major ADPKD genotype, PKD1, was defined in 1985 (3), a date that marks the beginning of a remarkable period of discovery...
  79. doi ARPKD and ADPKD: first cousins or more distant relatives?
    Jun Ya Kaimori
    J Am Soc Nephrol 19:416-8. 2008
  80. ncbi Preimplantation genetic diagnosis for autosomal recessive polycystic kidney disease
    N Gigarel
    Universite Paris Descartes, Faculte de Medecine, Unité INSERM U781, 149 rue de Sevres, 75743 Paris Cedex 15, France
    Reprod Biomed Online 16:152-8. 2008
    b>Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common hereditary renal cystic diseases, and is caused by mutations in the PKHD1 gene. Due to the poor prognosis, there is a strong demand for prenatal diagnosis...
  81. pmc Fibrocystin/polyductin modulates renal tubular formation by regulating polycystin-2 expression and function
    Ingyu Kim
    Division of Genetic Medicine, Department of Medicine and Cell and Developmental Biology, Vanderbilt University, 539 LH, 2215 Garland Avenue, Nashville, TN 37232, USA
    J Am Soc Nephrol 19:455-68. 2008
    b>Autosomal recessive polycystic kidney disease is caused by mutations in PKHD1, which encodes the membrane-associated receptor-like protein fibrocystin/polyductin (FPC)...
  82. ncbi Autosomal recessive polycystic kidney disease (ARPKD): new insights from the identification of the ARPKD gene, PKHD1
    Lisa M Guay-Woodford
    Department of Medicine, Division of Genetic and Translational Medicine, University of Alabama at Birmingham, Kaul 740, 1530 3rd Avenue South 19th Street, Birmingham, AL 35294, USA
    Pediatr Res 52:830-1. 2002
  83. ncbi Clinical and pathologic findings in two new allelic murine models of polycystic kidney disease
    C Vogler
    Department of Pathology, Saint Louis University School of Medicine, Missouri 63104, USA
    J Am Soc Nephrol 10:2534-9. 1999
    ..The progressive cystic transformation of the kidneys in these allelic murine models resembles that seen in humans with autosomal dominant polycystic kidney disease...
  84. pmc Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1
    Anna Rachel Gallagher
    Department of Internal Medicine, Yale University School of Medicine, New Haven, CT 06520, USA
    Am J Pathol 172:417-29. 2008
    b>Autosomal recessive polycystic kidney disease is a hereditary fibrocystic disease that involves the kidneys and the biliary tract...
  85. ncbi Phenotypic variations of orpk mutation and chromosomal localization of modifiers influencing kidney phenotype
    C Sommardahl
    Department of Pathology, University of Tennessee College of Veterinary Medicine, Knoxville, Tennessee 37901 1071, USA
    Physiol Genomics 7:127-34. 2001
    ..Low-resolution interval mapping was performed using the Map Manager QTb program, with the interval explaining a significant portion of the variance being the distal end of chromosome 4...
  86. pmc Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway
    Miguel A Garcia-Gonzalez
    Department of Medicine, Division of Nephrology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Hum Mol Genet 16:1940-50. 2007
    ..These studies are the first to show genetic interaction between the major loci responsible for human renal cystic disease in a common PKD pathway...
  87. ncbi [Hepatorenal autosomic recessive polycystic disease, a polyductine disease]
    G Deschenes
    Arch Pediatr 9:1003. 2002
  88. ncbi Another cystic mystery solved
    Thomas M Coffman
    Nat Genet 30:247-8. 2002
  89. ncbi Immature ovaries and polycystic kidneys in the congenital polycystic kidney mouse may be due to abnormal sex steroid metabolism
    D Woo
    Department of Medicine, University of California, Los Angeles, CA 90095, USA
    Mol Cell Endocrinol 176:155-62. 2001
    ..Our findings suggest that estrogen/androgen metabolism may play an important role in the development of the urogenital systems...
  90. ncbi Hereditary polycystic kidney diseases in children: changing sonographic patterns through childhood
    Fred E Avni
    Department of Paediatric Imaging, Children University Hospital Queen Fabiola ULB, Brussels, Belgium
    Pediatr Radiol 32:169-74. 2002
    ..To determine which US changes occur with time in children affected by autosomal recessive (ARPKD) and autosomal dominant polycystic kidney disease (ADPKD) and whether any of these changes correlate with the onset of renal failure...
  91. pmc Loss of apical monocilia on collecting duct principal cells impairs ATP secretion across the apical cell surface and ATP-dependent and flow-induced calcium signals
    Michael B Hovater
    Department of Physiology and Biophysics, University of Alabama at Birmingham, 1918 University Blvd, Birmingham, AL, 35294 0005, USA
    Purinergic Signal 4:155-70. 2008
    ..In autosomal recessive polycystic kidney disease (ARPKD) mice and humans, collecting duct epithelial cells lack an apical central cilium or ..
  92. ncbi Differential diagnosis of fetal hyperechogenic cystic kidneys unrelated to renal tract anomalies: A multicenter study
    K Chaumoitre
    Department of Medical Imaging, Hopital Nord, CHU Marseille, France
    Ultrasound Obstet Gynecol 28:911-7. 2006
    ..To identify important factors in the differential diagnosis of renal cysts associated with hyperechogenic kidneys...
  93. ncbi Autosomal recessive polycystic kidney disease: the clinical experience in North America
    Lisa M Guay-Woodford
    Division of Genetic and Translational Medicine, Department of Medicine, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA
    Pediatrics 111:1072-80. 2003
    We designed a longitudinal clinical database for autosomal recessive polycystic kidney disease (ARPKD), recruited patients from pediatric nephrology centers in the United States and Canada, and examined their clinical morbidities and ..
  94. ncbi Renal cystic diseases: a review
    Michele Bisceglia
    Division of Anatomic Pathology, IRCCS Casa Sollievo della Sofferenza Hospital, I 71013 San Giovanni Rotondo FG, Italy
    Adv Anat Pathol 13:26-56. 2006
    ..Whereas the gross and histologic appearance of some of these conditions may be diagnostic, clinical and sometimes molecular studies may be necessary to define other types...
  95. ncbi Recent progress in the etiopathogenesis of pediatric biliary disease, particularly Caroli's disease with congenital hepatic fibrosis and biliary atresia
    Yasuni Nakanuma
    Department of Human Pathology, Kanazawa University Graduate School of Medicine, Kanazawa, Japan
    Histol Histopathol 25:223-35. 2010
    ..PCK rats and Calori's disease with CHF belong to autosomal recessive polycystic kidney disease (ARPKD) with ductal plate malformation...
  96. ncbi [Fetal nephro-/uropathy: a retrospective analysis of 124 cases seen in the period from 1996 to 2002]
    M Bulla
    Pädiatrische Nephrologie, Universitat Munster, Deutschland
    Z Geburtshilfe Neonatol 209:100-7. 2005
    ..3 - 0.8 % of live-born infants. In addition, several chromosomal anomalies are combined with renal malformations. The poor prognosis of some of these diseases is reflected in a perinatal mortality of 6.3 %...
  97. ncbi Polycystic kidney syndrome in New Zealand White rabbits resembling human polycystic kidney disease
    Kirk J Maurer
    Division of Comparative Medicine, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA
    Kidney Int 65:482-9. 2004
    ..Cystic kidney diseases are an important cause of morbidity and mortality in humans. Small animal models are needed to more fully explore the complex expression patterns and pathobiology of this group of heritable diseases...
  98. pmc Galectin-3 associates with the primary cilium and modulates cyst growth in congenital polycystic kidney disease
    Miliyun G Chiu
    Nephro Urology Unit, UCL Institute of Child Health, 30 Guilford St, London WC1N 1EH, UK
    Am J Pathol 169:1925-38. 2006
    ..modulates collecting duct growth/differentiation in vitro, and is expressed in human autosomal recessive polycystic kidney disease in cyst epithelia, almost all of which arise from collecting ducts...
  99. ncbi Kinesin-2 mediates physical and functional interactions between polycystin-2 and fibrocystin
    Yuliang Wu
    Membrane Protein Research Group, Department of Physiology, University of Alberta, Edmonton, Alberta, Canada
    Hum Mol Genet 15:3280-92. 2006
    ..Taken together, we discovered that kinesin-2 is a linker between PC2 and FPC and mediates the regulation of PC2 channel function by FPC. Our study may be important for elucidating common molecular pathways for PKD of different genotypes...
  100. ncbi Role of vasopressin antagonists
    Vicente E Torres
    Division of Nephrology and Hypertension, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Clin J Am Soc Nephrol 3:1212-8. 2008
    ..the development of polycystic kidney disease in cpk mice and in three animal orthologs to human autosomal recessive polycystic kidney disease (PCK rat), autosomal dominant polycystic kidney disease (Pkd2-/WS25 mice), and ..
  101. pmc Cystin localizes to primary cilia via membrane microdomains and a targeting motif
    Binli Tao
    Departments of Medicine and Genetics, University of Alabama at Birmingham, 720 20th Street South, Birmingham, AL 35294, USA
    J Am Soc Nephrol 20:2570-80. 2009
    ..previously identified Cys1 as the gene responsible for disease in Cys1(cpk) mice, a mouse model of autosomal recessive polycystic kidney disease; this gene encodes cystin, a 145-amino acid cilium-associated protein...

Research Grants62

  1. Misregulation of receptor tyrosine kinase signaling in PKD
    Jordan A Kreidberg; Fiscal Year: 2013
    ..Failure to ubquitinate c-Met is due to sequestration of the E3 ubiquitin ligase c-Cbl by 31 integrin in the Golgi apparatus. This grant will investigate the roles of c-Cbl, c-Met and protein glycosylation in the pathogenesis of PKD. ..
  2. MicroRNA-Based Therapeutics for Rare Cystic Kidney Diseases
    Peter Igarashi; Fiscal Year: 2010
    ..Autosomal recessive cystic kidney diseases include autosomal recessive polycystic kidney disease (ARPKD), renal cysts and diabetes (RCAD), and nephronophthisis (NPHP)...
  3. MRI Imaging Biomarkers of ARPKD Kidney and Liver Disease
    Christopher A Flask; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Autosomal Recessive Polycystic Kidney Disease (ARPKD) is an inherited, multi-organ disorder that affects 1/20,000 children...
  4. Exploration of the functions of the ciliopathy Arls in cilia.
    Jinghua Hu; Fiscal Year: 2013
    ..JBST), Bardet-Biedl syndrome (BBS), nephronophthisis (NPHP), Meckel-Gruber syndrome (MKS), and autosomal recessive polycystic kidney disease (ARPKD), have been characterized molecularly as cilia-related diseases, now known ..
  5. Genetic analysis of the ciliopathies ARPKD and Meckel syndrome
    Peter C Harris; Fiscal Year: 2013
    ..These studies will be of diagnostic and prognostic importance in these disorders and help to understand the true complexity of simple genetic diseases. ..
  6. SODIUM ENTRY INTO AMILORIDE-SENSITIVE EPITHELIA
    Catherine M Fuller; Fiscal Year: 2013
    ..The relevance of this particular study extends to autosomal recessive polycystic kidney disease, which affects 1 in 20,000 babies in the United States.
  7. The Pathobiology of Hepatic Epithelia
    Nicholas F Larusso; Fiscal Year: 2013
    ..We believe that abnormalities in the sensory and transducing activities of cholangiocyte cilia are central to hepatic cyst formation. ..
  8. Novel treatment for polycystic kidney disease
    Vicente E Torres; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are important causes of end-stage renal failure without an effective therapy...
  9. Molecular pathogenesis of autosomal dominant polycystic liver disease (ADPLD)
    SORIN VASILE FEDELES; Fiscal Year: 2010
    ..This work is very relevant to public health as it will help achieve a molecular and genetic understanding of ADPLD and provide ways of converting that understanding into strategies for effective therapy. ..
  10. FASEB SRC on "Polycystic Kidney Disease, From Bench to Bedside"
    Dorien J M Peters; Fiscal Year: 2011
    ..This meeting is designed to foster collaboration and to further explore possible clinical interventions for this deadly group of disorders. ..
  11. Intracellular calcium in the treatment of polycystic kidney and liver diseases
    Sergio A Gradilone; Fiscal Year: 2010
    DESCRIPTION (Provided by Applicant): Autosomal recessive polycystic kidney disease (ARPKD) is an important genetic disorder in pediatric practice...
  12. Extracellular determinants of polycystic kidney disease severity
    Myron E Hinsdale; Fiscal Year: 2013
    ..about the genetic modifiers that are responsible for a wide range of complications that afflict autosomal recessive polycystic kidney disease (ARPKD) patients...
  13. Mechanism of Liver Fibrosis and TGF-beta Signaling in Congenital Hepatic Fibrosis
    JESSICA WEI YUN WEN; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): Congenital hepatic fibrosis associated with autosomal recessive polycystic kidney disease (CHF/ARPKD) is a genetic disease characterized by bilateral renal cystic lesions and progressive liver ..
  14. Analysis of the proteome of PKD-ELVs in polycystic kidney disease and controls
    CHRISTOPHER J contact WARD; Fiscal Year: 2010
    ..This would allow the very early diagnosis of the disease, without imaging or expensive DNA analysis, in the individuals most likely to benefit from treatment. ..
  15. KANSAS INTERDISCIPLINARY CENTER FOR PKD RESEARCH
    JAMES CALVET; Fiscal Year: 2009
    ..abstract_text> ..
  16. Harvard Center of Polycystic Kidney Disease Research
    Jing Zhou; Fiscal Year: 2009
    ..Each of these projects will be supported by a Core facility that will provide most up to date support on molecular imaging and an administrative Core. ..
  17. Mechanisms of C3 effects in ARPKD pathogenesis
    Michal Mrug; Fiscal Year: 2013
    ....
  18. Functional analysis of PKD proteins in urinary exosomes
    Christopher J Ward; Fiscal Year: 2012
    ....
  19. Hepato/Renal Fibrocystic Diseases Core Center (UAB HRFDCC)
    Bradley K Yoder; Fiscal Year: 2013
    ..abstract_text> ..
  20. To Explore and Study Domain Functions of Fibrocystin using Animal Models
    Guanqing Wu; Fiscal Year: 2013
    ..Recent reports have demonstrated that fibrocystin/polyductin (FPC), whose mutations cause autosomal recessive polycystic kidney disease (ARPKD), can be cleaved and its extracellular domain (FPCEXD) is released through the ..
  21. CYSTIC DILATATION OF NEPHRONS IN TRANSGENIC INV MICE
    Carrie Phillips; Fiscal Year: 2005
    ..Inherited polycystic kidney diseases (PKD) of childhood include nephronophthisis, autosomal recessive polycystic kidney disease and medullary cystic kidney disease...
  22. CONTROL OF EPITHELIAL GROWTH IN RENAL CYSTIC DISEASE
    Jared Grantham; Fiscal Year: 1991
    ..Successful completion of this research will justify the trial use of specific pharmacologic and dietary regimens in the treatment of human renal cystic disease...
  23. Laminin Alpha5 and Polycystic Kidney Disease
    JEFFREY MINER; Fiscal Year: 2007
    ..a conditional, floxed LamaS allele, we have serendipitously created a new mouse model for autosomal recessive polycystic kidney disease...
  24. CYSTIC DILATATION OF NEPHRONS IN TRANSGENIC INV MICE
    Carrie Phillips; Fiscal Year: 2005
    ..We believe the inv/inv model offers a new an exciting opportunity to extend the understanding of the genetic mechanisms of nephrogenesis and the abnormalities in this process which lead to PKD. ..
  25. Pathophysiology of ARPKD: role of aberrant transport
    Lisa Satlin; Fiscal Year: 2002
    ..Parallel studies will also be performed in the orpk murine model of ARPKD, whose microdissected tubules can be isolated and microperfused in vitro. ..
  26. CALCIUM ENTRY REGULATED BY CILIA IN POLYCYSTIC DISEASE
    Phillip Bell; Fiscal Year: 2006
    ..In models of autosomal recessive polycystic kidney disease (ARPKD), defects in cilia development or ciliary function have been proposed as a common ..
  27. DEVELOPMENTAL GENETICS OF OAK RIDGE POLYCYSTIC KIDNEY GE
    Noel Murcia; Fiscal Year: 2001
    ..Knowledge gained from these studies will further our basic understanding and provide novel insight into the fundamental cellular defects in renal tubular epithelium associated with PKD. ..
  28. Ion Transport Dysregulation in Cilium-deficient ARPKD
    MARK BEVENSEE; Fiscal Year: 2009
    ..Interrelated specific aims derive from this hypothesis and are designed to understand the cellular and molecular mechanisms that underlie this ARPKD disease phenotype. ..
  29. PATHOGENESIS OF CONGENITAL MURINE CYSTIC NEPHROGENESIS
    Ellis Avner; Fiscal Year: 1992
    ..is designed to study the pathogenesis of tubular cyst formation and progressive enlargement in autosomal recessive polycystic kidney disease of CPK mice...
  30. PATHOPHYSIOLOGY OF RECESSIVE POLYCYSTIC KIDNEY DISEASE
    Cathleen Carlin; Fiscal Year: 2004
    ..use complementary and integrated approaches to study the molecular and cellular pathophysiology of autosomal recessive polycystic kidney disease (ARPKD)...
  31. MOLECULAR GENETICS OF HUMAN ARPKD
    Feng Qian; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): Autosomal recessive polycystic kidney disease (ARPKD) is a significant cause of pediatric morbidity and mortality. Affected children suffer from HTN, renal insufficiency and portal tract fibrosis...
  32. MOLECULAR ANALYSIS OF PKD IN THE TGN737RPW MOUSE
    Carla Sommardahl; Fiscal Year: 2001
    ..disease with a liver and kidney pathology that closely resembles that in human patients with autosomal recessive polycystic kidney disease (ARPKD)...
  33. Molecular Genetics and Pathogenesis of ARPKD
    Guanqing Wu; Fiscal Year: 2004
    ..the characterization of a novel protein that is encoded by PKDH1, the gene responsible for causing autosomal recessive polycystic kidney disease (ARPKD), by the generation of mouse lines with a targeted mutation in PKDH1 and by the ..
  34. MECHANISMS OF RENAL CYST FORMATION
    STEPHANIE ORELLANA; Fiscal Year: 2000
    ....
  35. FUNCTIONAL CHARACTERIZATION OF KSP-CADHERIN
    Robert Thomson; Fiscal Year: 1999
    ....
  36. Role of Serine/Threonine Protein Kinase in ADPKD
    Xiaohong Li; Fiscal Year: 2003
    ..abstract_text> ..
  37. Molecular Genetics and Pathogenesis of ARPKD
    Guanqing Wu; Fiscal Year: 2008
    ..and characterization of a novel protein that is encoded by PKDH1, the gene responsible for causing autosomal recessive polycystic kidney disease (ARPKD). Several groups have recently identified PKHD1 (Ward et al., 2002; Onuchic et al...
  38. 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. ..
  39. 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). [unreadable] [unreadable] [unreadable]..
  40. Gene transfer to the kidney using lentiviral vectors
    Frank Park; Fiscal Year: 2004
    ..abstract_text> ..
  41. Genetics and Pharmacogenetics in FSGS (PPG Project 4)
    Lisa Guay Woodford; Fiscal Year: 2007
    ..unreadable]..
  42. Cystin, a lipid raft and cilia-associated protein in PKD
    Lisa Guay Woodford; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable] [unreadable]..
  43. EXTRACELLAR NUCLEOTIDE SIGNALING IN CYSTIC FIBROSIS
    Erik Schwiebert; Fiscal Year: 2004
    ..We are confident that novel results will be found concerning the cellular and molecular mechanisms of autocrine ATP release, signaling, and regulation of cell volume. ..
  44. EPITHELIAL P2X PURINERGIC RECEPTOR CHANNELS
    Erik Schwiebert; Fiscal Year: 2003
    ..abstract_text> ..
  45. Feline Model of an Inherited Craniofacial Abnormality
    Leslie Lyons; Fiscal Year: 2004
    ..Once identified, mutation analyses of these genes in the cat or other species will lead to understanding the genetics of facial development in humans. ..
  46. The Role of TGF-alpha in the Pathogenesis of ARPKD
    Katherine Dell; Fiscal Year: 2005
    DESCRIPTION (adapted from the application) Autosomal recessive polycystic kidney disease (ARPKD) is an inherited kidney disorder characterized by massive kidney enlargement and hepatic fibrosis...
  47. Epithelial Cell Linage in the Kidney and Genitourinary Tract
    Peter Igarashi; Fiscal Year: 2007
    ....
  48. Conserved Mechanisms of Ciliogenesis
    Bradley Yoder; Fiscal Year: 2007
    ..abstract_text> ..
  49. Functional characterization of the gene NPHP4
    Friedhelm Hildebrandt; Fiscal Year: 2007
    ..abstract_text> ..
  50. GENETIC RESOURCES FOR NON-HUMAN PRIMATES
    Leslie Lyons; Fiscal Year: 2007
    ..The rationale for this approach is that many primate researchers are unaware of the current primate resources and are unfamiliar with the use and advantages of genetics because it is outside their areas of expertise. ..
  51. Function of NPHP6 a novel gene for Senior-Loken syndrome
    Friedhelm Hildebrandt; Fiscal Year: 2009
    ..Identification of NPHP6 as a new cause of NPHP and SLS opens new inroads into the understanding of disease mechanisms of renal cystic disease and retinitis pigmentosa. ..
  52. Novel Therapeutic Strategies for PKD
    Patricia Wilson; Fiscal Year: 2007
    ..abstract_text> ..
  53. Identifying new genes for branchio-oto-renal syndrome
    Friedhelm Hildebrandt; Fiscal Year: 2009
    ..Identification of new genes causing branchio-oto-renal syndrome will offer new insights into the pathomechanisms of hearing defects, urinary tract malformations as well as kidney and ear development. ..
  54. Regulation of Vascular Calcification in Diabetes
    XUENING CHEN; Fiscal Year: 2007
    ....
  55. Regulation of Transepithelial Transport in PKD
    Rajeev Rohatgi; Fiscal Year: 2008
    ..SA II: To identify those factors that regulate the avid Na absorption seen in ARPKD cyst lining epithelial cells. ..
  56. Pathogenesis of PKD in Mice Lacking Renal Cilia
    Peter Igarashi; Fiscal Year: 2008
    ....
  57. Heparin-Binding EGF in Autosomal Recessive PKD
    Katherine Dell; Fiscal Year: 2007
    b>Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of morbidity and mortality in children and adolescents...
  58. REGULATION OF KIDNEY-SPECIFIC GENE EXPRESSION
    Peter Igarashi; Fiscal Year: 2010
    ..HNF-1{3mutant mice show decreased expression of Pkhdl, the gene mutated in autosomal recessive polycystic kidney disease (ARPKD), and HNF-13 directly regulates the Pkhdl promoter...
  59. Cilial dysfunction and pathogenesis of obesity
    Bradley K Yoder; Fiscal Year: 2010
    ....
  60. Analysis of ARPKD by Targeted Manipulation of Pkhd1
    Christopher Ward; Fiscal Year: 2008
    b>Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a devastating inherited neonatal nephropathy characterized by fusiform collecting duct dilatation and congenital hepatic fibrosis...
  61. TRANSCRIPTION FACTORS AND RENAL DEVELOPMENT
    Peter Igarashi; Fiscal Year: 2002
    ..Collectively, these studies should provide fundamental insights into transcriptional regulation of kidney morphogenesis and cystogenesis. ..