Affiliation: Mayo Clinic
- Epitope-tagged Pkhd1 tracks the processing, secretion, and localization of fibrocystinJason L Bakeberg
Division of Nephrology and Hypertension, Mayo Clinic, 703 Stabile Building, 200 First Street SW, Rochester, MN 55905, USA
J Am Soc Nephrol 22:2266-77. 2011..In summary, tagging of the endogenous Pkhd1 gene facilitates the study of the glycosylation, proteolytic cleavage, and shedding of fibrocystin...
- Germline PKHD1 mutations are protective against colorectal cancerChristopher J Ward
Division of Nephrology and Hypertension, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
Hum Genet 129:345-9. 2011..0002). We also show that the carriage rate for PKHD1 mutations in the European population is higher than previous accepted at 3.2% (1:31 genomes)...
- Analysis of the polycystins in aortic vascular smooth muscle cellsQi Qian
Division of Nephrology, Mayo Clinic, Rochester, Minnesota 55905, USA
J Am Soc Nephrol 14:2280-7. 2003..These observations are consistent with an important role of the polycystins in the development, maintenance, and function of the myoelastic arterial organization and with the vascular phenotype associated with ADPKD...
- Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3Rachaneekorn Tammachote
Department of Biochemistry Molecular Biology, Mayo Clinic, Rochester, MN, USA
Hum Mol Genet 18:3311-23. 2009..MKS1 and MKS3 functions are required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication...
- Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary ciliaChristopher J Ward
Division of Nephrology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
Hum Mol Genet 12:2703-10. 2003..The localization of fibrocystin to cilia further strengthens that correlation and indicates that the primary defect in ARPKD may be linked to ciliary dysfunction...
- Identification, characterization, and localization of a novel kidney polycystin-1-polycystin-2 complexLinda J Newby
Sheffield Kidney Institute, University Section of Medicine, Division of Clinical Sciences, University of Sheffield, Sheffield S5 7AU, United Kingdom
J Biol Chem 277:20763-73. 2002....
- Functional characterization of PKDREJ, a male germ cell-restricted polycystinKeith A Sutton
Department of Cell Biology, University of Massachusetts Medical School, Worcester, Massachusetts 01655, USA
J Cell Physiol 209:493-500. 2006..These interactions, as well as polycystin-2 association with TRPC channels, are consistent with a role of this protein in the regulation of the acrosome reaction and in other aspects of sperm physiology...
- Proteolytic cleavage and nuclear translocation of fibrocystin is regulated by intracellular Ca2+ and activation of protein kinase CThomas Hiesberger
Department of Internal Medicine, University of Texas Southwestern Medical Center at Dallas, 75390, USA
J Biol Chem 281:34357-64. 2006..These results identify a novel Ca2+-dependent pathway that signals from fibrocystin located in the cell membrane to the nucleus...
- Lowering of Pkd1 expression is sufficient to cause polycystic kidney diseaseIrma S Lantinga-van Leeuwen
Center for Human and Clinical Genetics, Leiden University Medical Center, 2333 AL Leiden, The Netherlands
Hum Mol Genet 13:3069-77. 2004..We propose that in patients reduced PKD1 expression of the normal allele below a critical level, due to genetic, environmental or stochastic factors, may lead to cyst formation in the kidneys and other clinical features of ADPKD...
- A polycystin-1 multiprotein complex is disrupted in polycystic kidney disease cellsTamara Roitbak
Department of Pathology, University of New Mexico, Health Science Center, Albuquerque, New Mexico 87131, USA
Mol Biol Cell 15:1334-46. 2004....
- The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk ratUrsula M Smith
Section of Medical and Molecular Genetics, Division of Reproductive and Child Health, University of Birmingham Medical School, Birmingham B15 2TT, UK
Nat Genet 38:191-6. 2006..It encodes a 995-amino acid seven-transmembrane receptor protein of unknown function that we have called meckelin...
- Analysis of ARPKD by Targeted Manipulation of Pkhd1Christopher Ward; Fiscal Year: 2007..These are essential prerequisites before rational therapies can be developed for this disorder. ..