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8 results on '"Homstad, Alison"'

2. Rare variants in tenascin genes in a cohort of children with primary vesicoureteric reflux

Author

Elahi, Shan, Homstad, Alison, Vaidya, Himani, Stout, Jennifer, Hall, Gentzon, Wu, Guanghong, Conlon, Peter, Routh, Jonathan C., Wiener, John S., Ross, Sherry S., Nagaraj, Shashi, Wigfall, Delbert, Foreman, John, Adeyemo, Adebowale, Gupta, Indra R., Brophy, Patrick D., Rabinovich, C. Egla, and Gbadegesin, Rasheed A.

Subjects
Bladder diseases -- Research -- Risk factors -- Development and progression -- Care and treatment, Chronic kidney failure -- Research -- Risk factors, Health
Abstract

Background Primary vesicoureteral reflux (PVUR) is the most common malformation of the kidney and urinary tract, and reflux nephropathy is a major cause of chronic kidney disease in children. Recently, we reported mutations in the tenascin XB gene (TNXB) as a cause of PVUR with joint hypermobility. Methods To define the role of rare variants in tenascin genes in the etiology of PVUR, we screened a cohort of patients with familial PVUR (FPVUR) and non-familial PVUR (NFPVUR) for rare missense variants inTNXB and the tenascin C gene (TNC) after excluding mutations in ROBO2 and SOX17. Results The screening procedure identified 134 individuals from 112 families with PVUR; two families with mutations in ROBO2 were excluded from further analysis. Rare missense variants in TNXB were found in the remaining 110 families, of which 5/55 (9 %) families had FPVUR and 2/55 (4 %) had NFPVUR. There were no differences in high-grade reflux or renal parenchymal scarring between patients with and without TNXB variants. All patients with TNXB rare variants who were tested exhibited joint hypermobility. Overall we were able to identify causes of FPVUR in 7/57 (12 %) families (9 % in TNXB and 3 % in ROBO2). Conclusions In conclusion, the identification of a rare missense variant in TNXB in combination with a positive family history of VUR and joint hypermobility may represent a non-invasive method to diagnose PVUR and warrants further evaluation in other cohorts., Author(s): Shan Elahi[sup.1] , Alison Homstad[sup.1] [sup.2] , Himani Vaidya[sup.1] [sup.2] , Jennifer Stout[sup.1] , Gentzon Hall[sup.2] [sup.3] , Guanghong Wu[sup.2] [sup.3] , Peter Conlon[sup.1] , Jonathan C. Routh[sup.1] [sup.4] [...]

Published
2016
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4. Rare variants in tenascin genes in a cohort of children with primary vesicoureteric reflux

Author

Elahi, Shan, primary, Homstad, Alison, additional, Vaidya, Himani, additional, Stout, Jennifer, additional, Hall, Gentzon, additional, Wu, Guanghong, additional, Conlon, Peter, additional, Routh, Jonathan C., additional, Wiener, John S., additional, Ross, Sherry S., additional, Nagaraj, Shashi, additional, Wigfall, Delbert, additional, Foreman, John, additional, Adeyemo, Adebowale, additional, Gupta, Indra R., additional, Brophy, Patrick D., additional, Rabinovich, C. Egla, additional, and Gbadegesin, Rasheed A., additional

Published
2015
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5. HLA-DQA1 and PLCG2 Are Candidate Risk Loci for Childhood-Onset Steroid-Sensitive Nephrotic Syndrome

Author

Gbadegesin, Rasheed A., primary, Adeyemo, Adebowale, additional, Webb, Nicholas J.A., additional, Greenbaum, Larry A., additional, Abeyagunawardena, Asiri, additional, Thalgahagoda, Shenal, additional, Kale, Arundhati, additional, Gipson, Debbie, additional, Srivastava, Tarak, additional, Lin, Jen-Jar, additional, Chand, Deepa, additional, Hunley, Tracy E., additional, Brophy, Patrick D., additional, Bagga, Arvind, additional, Sinha, Aditi, additional, Rheault, Michelle N., additional, Ghali, Joanna, additional, Nicholls, Kathy, additional, Abraham, Elizabeth, additional, Janjua, Halima S., additional, Omoloja, Abiodun, additional, Barletta, Gina-Marie, additional, Cai, Yi, additional, Milford, David D., additional, O'Brien, Catherine, additional, Awan, Atif, additional, Belostotsky, Vladimir, additional, Smoyer, William E., additional, Homstad, Alison, additional, Hall, Gentzon, additional, Wu, Guanghong, additional, Nagaraj, Shashi, additional, Wigfall, Delbert, additional, Foreman, John, additional, and Winn, Michelle P., additional

Published
2015
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6. A Novel Missense Mutation of Wilms’ Tumor 1 Causes Autosomal Dominant FSGS

Author

Hall, Gentzon, primary, Gbadegesin, Rasheed A., additional, Lavin, Peter, additional, Wu, Guanghong, additional, Liu, Yangfan, additional, Oh, Edwin C., additional, Wang, Liming, additional, Spurney, Robert F., additional, Eckel, Jason, additional, Lindsey, Thomas, additional, Homstad, Alison, additional, Malone, Andrew F., additional, Phelan, Paul J., additional, Shaw, Andrey, additional, Howell, David N., additional, Conlon, Peter J., additional, Katsanis, Nicholas, additional, and Winn, Michelle P., additional

Published
2015
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7. Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis

Author

Malone, Andrew F., primary, Phelan, Paul J., additional, Hall, Gentzon, additional, Cetincelik, Umran, additional, Homstad, Alison, additional, Alonso, Andrea S., additional, Jiang, Ruiji, additional, Lindsey, Thomas B., additional, Wu, Guanghong, additional, Sparks, Matthew A., additional, Smith, Stephen R., additional, Webb, Nicholas J.A., additional, Kalra, Philip A., additional, Adeyemo, Adebowale A., additional, Shaw, Andrey S., additional, Conlon, Peter J., additional, Charles Jennette, J., additional, Howell, David N., additional, Winn, Michelle P., additional, and Gbadegesin, Rasheed A., additional

Published
2014
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8. Mutations in the Gene That Encodes the F-Actin Binding Protein Anillin Cause FSGS

Author

Gbadegesin, Rasheed A., primary, Hall, Gentzon, additional, Adeyemo, Adebowale, additional, Hanke, Nils, additional, Tossidou, Irini, additional, Burchette, James, additional, Wu, Guanghong, additional, Homstad, Alison, additional, Sparks, Matthew A., additional, Gomez, Jose, additional, Jiang, Ruiji, additional, Alonso, Andrea, additional, Lavin, Peter, additional, Conlon, Peter, additional, Korstanje, Ron, additional, Stander, M. Christine, additional, Shamsan, Ghaidan, additional, Barua, Moumita, additional, Spurney, Robert, additional, Singhal, Pravin C., additional, Kopp, Jeffrey B., additional, Haller, Hermann, additional, Howell, David, additional, Pollak, Martin R., additional, Shaw, Andrey S., additional, Schiffer, Mario, additional, and Winn, Michelle P., additional

Published
2014
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