ADPKD Mutation Database
Peter Harris, Ph.D., Database Director
Supported by the PKD Foundation
The Autosomal Dominant Polycystic Kidney Disease (ADPKD) Database (PKDB) has been established to facilitate the characterization of ADPKD variants in PKD1 and PKD2, the two genes known to have mutations causative of ADPKD. It is a repository for all variants in these genes, whether likely disease-causing or not. The PKDB displays the most comprehensive listing of all published PKD1 and PKD2 mutations and includes the silent polymorphisms described to date. Information on the PKDB should be used for research purposes only.
More information about the PKDB is available at: http://pkdb.mayo.edu/
"PKDB: Polycystic Kidney Disease Mutation Database-A Gene Variant Database for Autosomal Dominant Polycystic Kidney Disease" (PDF)
Human Mutation - 0, 1-6, 2007
Alexander M. Gout, Neilson C. Martin, Alastair F. Brown, and David Ravine
Electron Microscopy Core
Vince Gattone, Ph.D., Program Director
Supported by the PKD Foundation
The Electron Microscopy Core for PKD Research utilizes the Electron Microscopy Center of Indiana University School of Medicine, under the direction of an experienced electron microscopist and PKD researcher, Dr. Vincent Gattone. This core is dedicated to facilitate research on polycystic kidney disease and other hepatorenal fibrocystic diseases and is well equipped to handle most electron microscopy needs. Services are provided at a significant discount because the costs are underwritten by the PKD Foundation.
More information about the Electron Microscopy Core for PKD Research is available at
http://www.anatomy.iupui.edu/PKD/index.htm
For access to a research project application form, go to
http://www.anatomy.iupui.edu/PKD/Project%20Application.doc (DOC).
Knockout Mouse Project
Supported by NIH
NIH has provided funding to establish and support a repository for its Knockout Mouse Project (KOMP). This is part of a $50 million trans-NIH initiative to increase the availability of genetically-altered mice and related materials. The University of California, Davis (UC Davis) and Children’s Hospital Oakland Research Institute (CHORI) in Oakland, California, will collaborate to preserve, protect and make about 8,500 types of knockout mice and related products available to the research community.
More information about the KOMP resources is available at http://www.komp.org/.
PKD Tissue Repository and Biomaterials Resource Core
Director: Darren P. Wallace, PhD
Supported by NIH
The PKD Tissue Repository and Biomaterials Core is located in the Kidney Institute at the University of Kansas Medical Center, and is funded by the National Institutes of Health to generate unique human reagents for PKD investigators. Biomaterials that are offered by the core include fixed and frozen tissue, cyst fluid, and primary cells isolated from the cysts of discarded human PKD kidneys. The core also generates biological materials from animal models of PKD.
More information about the PKD Tissue Repository and Biomaterials Resource is available at http://www2.kumc.edu/ki/wallace.htm.
UAB Recessive Polycystic Kidney Disease Core Centers
Core A: ARPKD Clinical and Genetic Resource
Director: Lisa M. Guay-Woodford, MD
Co-Directors: Ludwine Messiaen, PhD (Director, UAB Medical Genomics Lab)
Gary Cutter, PhD. (Head, UAB Biometry and Clinical Trials)
Website
Core B: Engineered Mouse Resource
Director: Bradley K. Yoder, PhD
Co-Director: Robert Kesterson, PhD (Director, UAB ESC/Transgenic Core)
Website
Core C: Cellular Physiology Resource
Director: P. Darwin Bell, PhD
Website
Core D: Tissue Characterization and Immunoreagent Resource
Director: Joanne Murphy-Ullrich, PhD (Director, UAB CAMRC)
Co-Directors: Gene P. Seigal, MD, PhD
Mary Ann Accavitti-Loper, PhD (Director, UAB ERIC)
Website
Core E: Proteomics Resource
Director: Helen Kim, PhD (Co-Director, UAB Proteomics/Mass Spectrometry Core)
Co-Director: Stephen Barnes, PhD (Co-Director, UAB Proteomics/Mass Spectrometry Core)
Website
More information about the UAB Recessive Kidney Disease Core Centers is available at http://www.rpkdcc.uab.edu/.
National Disease Research Interchange (NDRI)
Supported by NIH
For 28 years NDRI has been a major source of human biomaterials for approved research studies, providing scientists with high quality customized biomaterials for use in studies to understand human disease. Funded by NIH, NDRI is a not-for-profit organization that places around 20,000 normal and diseased tissues each year with researchers in academia and the biomedical and pharmaceutical industries.
More information about NDRI is available by calling 800-222-NDRI (6374) or at www.ndriresource.org.