CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS) - Gigante, Maddalena; Pontrelli, Paola; Montemurno, Eustacchio; Roca, Leonarda; Aucella, Filippo; Penza, Rosa; Caridi, Gianluca; Ranieri, Elena; Ghiggeri, Gian Marco; Gesualdo, Loreto (Nephrology, dialysis, transplantation, 2009)
Keywords: Adaptor Proteins, Signal Transducing - deficiency; Adaptor Proteins, Signal Transducing - genetics; Adaptor Proteins, Signal Transducing - metabolism; Amino Acid Sequence; Amino Acid Substitution; Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy; Animals; Apoptosis; Base Sequence; Biological and medical sciences; Case-Control Studies; CD2 Antigens - metabolism; CD2AP; Child, Preschool; Cytoskeletal Proteins - deficiency; Cytoskeletal Proteins - genetics; Cytoskeletal Proteins - metabolism; DNA - genetics; Emergency and intensive care: renal failure. Dialysis management; Female; Glomerulonephritis; Glomerulosclerosis, Focal Segmental - genetics; Glomerulosclerosis, Focal Segmental - pathology; Glomerulosclerosis, Focal Segmental - physiopathology; Humans; Intensive care medicine; Male; Medical sciences; Mice; Mice, Knockout; Molecular Sequence Data; Mutation; Mutation, Missense; mutations; Nephrology. Urinary tract diseases; Nephropathies. Renovascular diseases. Renal failure; nephrotic syndrome; Nephrotic Syndrome - genetics; Nephrotic Syndrome - pathology; Nephrotic Syndrome - physiopathology; Sequence Deletion; Sequence Homology, Amino Acid; T-Lymphocytes - pathology; T-Lymphocytes - physiology; Young Adult; nephrotic syndrome; mutations; CD2AP; Glomerulonephritis; Kidney disease; Extrarenal dialysis; Urinary system disease; Hemodialysis; Renal failure; Nephrotic syndrome; Mutation