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Your search keyword '"Winn, Michelle P"' showing total 4 results
Start Over Author "Winn, Michelle P" Publisher elsevier
4 results on '"Winn, Michelle P"'

1. List of Contributors

Author

Afshinnia, Farsad, primary, Agarwal, Anupam, additional, Appel, Gerald B., additional, Bagby, Susan P., additional, Bailey, James L., additional, Bakris, George L., additional, Barrett, Brendan J., additional, Bauer, Carolyn A., additional, Berl, Tomas, additional, Berns, Jeffrey S., additional, Bomback, Andrew, additional, Bose, Anirban, additional, Brosius, Frank C., additional, Brown, Lee K., additional, Bushinsky, David A., additional, Busse, Laurence W., additional, Campbell, Ruth C., additional, Cathro, Helen, additional, Chawla, Lakhmir S., additional, Chen, Sheldon, additional, Chertow, Glenn M., additional, Chew, Emily, additional, Chonchol, Michel, additional, Clive, David M., additional, Cohen, Debbie L., additional, Cohen, Lewis M., additional, Cohen, Scott D., additional, Collins, Ashte’ K., additional, Combs, Sara, additional, Correa-Rotter, Ricardo, additional, Cukor, Daniel, additional, Dalal, Monica, additional, Dancik, Tavis, additional, Davenport, Andrew, additional, Davison, Sara, additional, Zeeuw, Dick de, additional, Delanaye, Pierre, additional, Dharia, Sushma M., additional, Dobre, Mirela A., additional, Drawz, Paul, additional, Dreisbach, Albert W., additional, Emmett, Michael, additional, Fanton, John H., additional, Felsenfeld, Arnold J., additional, Fernandez, Hilda, additional, Flessner, Michael F., additional, Freedman, Barry I., additional, Fruchter, Yvette, additional, Furth, Susan L., additional, García-García, Guillermo, additional, Germain, Michael J., additional, Germino, Gregory G., additional, Goligorsky, Michael S., additional, Greenberg, Arthur, additional, Guay-Woodford, Lisa M., additional, Hawkins, Katrina, additional, Herzog, Charles A., additional, Holley, Jean L., additional, Hostetter, Thomas H., additional, House, Andrew A., additional, Hruska, Keith A., additional, Huan, Yonghong, additional, Ibrahim, Hassan N., additional, Imran, Nashat, additional, Iñiguez, Jonathan Chávez, additional, Isom, Robert T., additional, Jablonski, Kristen L., additional, Jhaveri, Kenar D., additional, Johansen, Kirsten, additional, Johnson, Richard J., additional, Junghare, Milind Y., additional, Kang, Duk-Hee, additional, Karadsheh, Feras F., additional, Kari, Jameela, additional, Kasiske, Bertram L., additional, Khoury, Charbel C., additional, Kimmel, Paul L., additional, Kopp, Jeffrey B., additional, Kummer, Andrew, additional, Heerspink, Hiddo J.Lambers, additional, Lerman, Lilach O., additional, Levin, Adeera, additional, Levine, Barton S., additional, Lew, Susie Q., additional, Mandayam, Sreedhar, additional, Mattoo, Tej K., additional, Maynard, Sharon E., additional, Meyer, Timothy W., additional, Mitch, William E., additional, Moss, Alvin H., additional, Moxey-Mims, Marva, additional, Muntner, Paul, additional, Murray, Anne M., additional, Nath, Karl A., additional, Neugarten, Joel, additional, No, Gloria, additional, Pahl, Madeleine V., additional, Paller, Mark S., additional, Palmer, Biff F., additional, Parfrey, Patrick S., additional, Patel, Samir S., additional, Pecoits-Filho, Roberto, additional, Peitzman, Steven J., additional, Peixoto, Aldo J., additional, Pham, Phuong-Chi T., additional, Pham, Phuong-Thu T., additional, Rabelink, Ton J., additional, Radhakrishnan, Jai, additional, Raed, Anas, additional, Raj, Dominic S., additional, Ramirez-Sandoval, Juan Carlos, additional, Reckelhoff, Jane F., additional, Ronco, Claudio, additional, Rosenberg, Mark E., additional, Rosner, Mitchell H., additional, Rovin, Brad, additional, Roy-Chaudhury, Prabir, additional, Ruebner, Rebecca, additional, Rule, Andrew D., additional, Sands, Jeff M., additional, Scheinman, Steven J., additional, Schlanger, Lynn E., additional, Seifert, Michael E., additional, Seliger, Stephen, additional, Singh, Ajay K., additional, Stendahl, John C., additional, Surendran, Kameswaran, additional, Textor, Stephen C., additional, Thadhani, Ravi I., additional, Townsend, Raymond R., additional, Unruh, Mark L., additional, Vassalotti, Joseph A., additional, Vaziri, Nosratola D., additional, Velasquez, Manuel T., additional, Ver Halen, Nisha, additional, Wang, Connie J., additional, Wanner, Christoph, additional, Weber, Marc, additional, Weir, Matthew R., additional, Wing, Maria R., additional, Winn, Michelle P., additional, Wymer, David C., additional, Yee, Jerry, additional, and Ziyadeh, Fuad N., additional

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

Author

Malone AF, Phelan PJ, Hall G, Cetincelik U, Homstad A, Alonso AS, Jiang R, Lindsey TB, Wu G, Sparks MA, Smith SR, Webb NJ, Kalra PA, Adeyemo AA, Shaw AS, Conlon PJ, Jennette JC, Howell DN, Winn MP, and Gbadegesin RA

Subjects
Adolescent, Adult, Child, DNA Mutational Analysis, Exome, Female, Genetic Testing, Genotype, Glomerular Basement Membrane ultrastructure, Glomerulosclerosis, Focal Segmental complications, Glomerulosclerosis, Focal Segmental pathology, Hearing Loss genetics, Hematuria etiology, Humans, Male, Middle Aged, Mutation, Missense, Phenotype, Podocytes ultrastructure, Proteinuria etiology, Young Adult, Autoantigens genetics, Collagen Type IV genetics, Glomerulosclerosis, Focal Segmental genetics
Abstract

Focal segmental glomerulosclerosis (FSGS) is a histological lesion with many causes, including inherited genetic defects, with significant proteinuria being the predominant clinical finding at presentation. Mutations in COL4A3 and COL4A4 are known to cause Alport syndrome (AS), thin basement membrane nephropathy, and to result in pathognomonic glomerular basement membrane (GBM) findings. Secondary FSGS is known to develop in classic AS at later stages of the disease. Here, we present seven families with rare or novel variants in COL4A3 or COL4A4 (six with single and one with two heterozygous variants) from a cohort of 70 families with a diagnosis of hereditary FSGS. The predominant clinical finding at diagnosis was proteinuria associated with hematuria. In all seven families, there were individuals with nephrotic-range proteinuria with histologic features of FSGS by light microscopy. In one family, electron microscopy showed thin GBM, but four other families had variable findings inconsistent with classical Alport nephritis. There was no recurrence of disease after kidney transplantation. Families with COL4A3 and COL4A4 variants that segregated with disease represent 10% of our cohort. Thus, COL4A3 and COL4A4 variants should be considered in the interpretation of next-generation sequencing data from such patients. Furthermore, this study illustrates the power of molecular genetic diagnostics in the clarification of renal phenotypes.

Published
2014
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4. Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis.

Author

Gbadegesin RA, Lavin PJ, Hall G, Bartkowiak B, Homstad A, Jiang R, Wu G, Byrd A, Lynn K, Wolfish N, Ottati C, Stevens P, Howell D, Conlon P, and Winn MP

Subjects
Adolescent, Adult, Aged, Amino Acid Sequence, Amino Acid Substitution, Child, Child, Preschool, Exons, Female, Formins, Genes, Dominant, Genes, Recessive, Genetic Testing, Glomerulosclerosis, Focal Segmental pathology, Humans, Infant, Male, Microfilament Proteins chemistry, Middle Aged, Models, Molecular, Molecular Sequence Data, Mutant Proteins chemistry, Mutant Proteins genetics, Mutation, Missense, Protein Structure, Tertiary, Sequence Homology, Amino Acid, Young Adult, Glomerulosclerosis, Focal Segmental genetics, Microfilament Proteins genetics, Mutation
Abstract

Focal and segmental glomerulosclerosis (FSGS) is a major cause of end-stage kidney disease. Recent advances in molecular genetics show that defects in the podocyte play a major role in its pathogenesis and mutations in inverted formin 2 (INF2) cause autosomal dominant FSGS. In order to delineate the role of INF2 mutations in familial and sporadic FSGS, we sought to identify variants in a large cohort of patients with FSGS. A secondary objective was to define an approach for genetic screening in families with autosomal dominant disease. A total of 248 individuals were identified with FSGS, of whom 31 had idiopathic disease. The remaining patients clustered into 64 families encompassing 15 from autosomal recessive and 49 from autosomal dominant kindreds. There were missense mutations in 8 of the 49 families with autosomal dominant disease. Three of the detected variants were novel and all mutations were confined to exon 4 of INF2, a regulatory region responsible for 90% of all changes reported in FSGS due to INF2 mutations. Thus, in our series, INF2 mutations were responsible for 16% of all cases of autosomal dominant FSGS, with these mutations clustered in exon 4. Hence, screening for these mutations may represent a rapid, non-invasive and cost-effective method for the diagnosis of autosomal dominant FSGS.

Published
2012
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