Section Chief: Gregory G. Germino, M.D.
Research Materials & Patents
Patents, materials, and other research resources appear below. Some resources may be available for use through Material Transfer Agreements (MTAs) or licensing agreements.
View our plasmids on Addgene.
View our mouse models at Jackson Lab.
View our transcriptomic and proteomic datasets:
- Transcriptomic and metabolomic analysis of autosomal dominant polycystic kidney disease identifies HNF4α as a disease modifier – Gene expression profiling by expression arrays in kidneys of 70 samples of Pkd1 conditional knockout mice conditionally inactivated before age 10-days and harvested between ages 11 and 24 days, with controls.
- Fatty acid oxidation is impaired in an orthologous mouse model of Autosomal Dominant Polycystic Kidney Disease – Gene expression profiling by expression arrays in kidneys of 80 samples of Pkd1 conditional knockout mice conditionally inactivated at age 40-days and harvested between ages 100 and 210 days, with controls.
- Novel ARPKD mouse model with near complete deletion of Polycystic Kidney and Hepatic Disease 1 (Pkhd1) genomic locus has multiple phenotypes but no renal cysts. Kidney Int 104: 611-616, 2023 doi.org/10.1016/j.kint.2023.05.027 – This report describes the generation and characterization of a mouse line with deletion of ~500kb of genomic DNA that includes the Pkhd1 locus. Single nuclear RNA sequencing–related data sets from the normal and mutant kidney generated for this study can be found in the National Center for Biotechnology Information Sequence Read Archive (SRA) archive with BioProject record PRJNA911229. Cell range output count matrices have been deposited in figshare.
- In vivo Polycystin-1 interactome using a novel Pkd1 knock-in mouse model. PLoS One. 2023 Aug 4;18(8):e0289778. doi: 10.1371/journal.pone.0289778 – This reports the generation and characterization of a mouse line with an EGFP knocked in-frame into the C-terminus of Polycystin-1 (PC1). The mass spectrometry proteomics data of the PC1 interactome have been deposited to the ProteomeXchange Consortium via the PRIDE partner repository with the dataset identifier PXD035250.
View Dr. Germino’s patents:
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Detection & treatment of polycystic kidney disease (U.S. Patent Number 7,553,644)
Compositions useful for examining the PKD1 gene are provided. In addition, methods for detecting mutations of the PKD1 gene, which can be associated with autosomal dominant polycystic kidney disease in humans, are provided. Methods for diagnosing a… -
Pkd mutations & evaluation of same (U.S. Patent Number 10,760,128)
The present invention relates to methods of detecting novel mutations in a PKD1 and/or PKD2 gene that have been determined to be associated with autosomal dominant polycystic kidney disease (ADPKD) in order to detect or predict the occurrence of… -
Polycystic kidney disease gene (Patent Number 6,867,288)
The present invention provides methods and compositions for treating cyst formation in PKD1-associated epithelial cells. Such methods encompass administering an isolated human PKD1 gene, or fragments of the gene, under conditions that result in… -
Polycystic kidney disease gene & protein (U.S. Patent Number 6,071,717)
The present invention involves isolated nucleic acid encoding human PKD1, and sequences derived therefrom. The invention also encompasses vectors comprising these nucleic acids, host cells transformed with the vectors, and methods for producing PKD1… -
Polycystic kidney disease gene (U.S. Patent Number 5,654,170)
The present invention involves isolated nucleic acid encoding human PKD1, and sequences derived therefrom. The invention also encompasses vectors comprising these nucleic acids, host cells transformed with the vectors, and methods for producing PKD1…
Last Reviewed October 2024