Mutations in the Gene That Encodes the F-Actin Binding Protein Anillin Cause FSGS
BASIC RESEARCH www.jasn.org Mutations in the Gene That Encodes the F-Actin Binding Protein Anillin Cause FSGS † †‡ | Rasheed A. Gbadegesin,* Gentzon Hall, Adebowale Adeyemo,§ Nils Hanke, ¶ | †‡ † ‡ Irini Tossidou, James Burchette,** Guanghong Wu, Alison Homstad,* Matthew A. Sparks, ‡ † † †‡†† ‡‡ Jose Gomez, Ruiji Jiang,* Andrea Alonso,* Peter Lavin, Peter Conlon, || || Ron Korstanje,¶§§ M. Christine Stander, Ghaidan Shamsan, Moumita Barua,¶¶ ‡ ††† | Robert Spurney, Pravin C. Singhal,*** Jeffrey B. Kopp, Hermann Haller, ¶ David Howell,** || | †‡ Martin R. Pollak,¶¶ Andrey S. Shaw, Mario Schiffer, ¶ and Michelle P. Winn Departments of *Pediatrics, ‡Medicine, and **Pathology, and †Center for Human Genetics, Duke University Medical Center, Durham, North Carolina; §Center for Research on Genomics and Global Health, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland; |Department of Nephrology, Hannover Medical School, Hannover, Germany; ¶Mount Desert Island Biological Laboratory, Salisbury Cove, Maine; ††Trinity Health Kidney Centre, Tallaght Hospital, Trinity College, Dublin, Ireland; ‡‡Department of Nephrology, Beaumont Hospital, Dublin, Ireland; §§The Jackson Laboratory, Bar Harbor, Maine; ||Howard Hughes Medical Institute, Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri; ¶¶Division of Nephrology, Department of Medicine, Beth Israel Deaconess Medical Center, Boston, Massachusetts; ***Feinstein Institute for Medical Research, North Shore-LIJ Health System, Manhasset, New York; and †††Kidney Disease Section, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland ABSTRACT FSGS is characterized by segmental scarring of the glomerulus and is a leading cause of kidney failure. Identification of genes causing FSGS has improved our understanding of disease mechanisms and points to defects in the glomerular epithelial cell, the podocyte, as a major factor in disease pathogenesis.
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