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Genetics of Congenital Anomalies of the Kidney and Urinary Tract

ABSTRACT: Genetics of Congenital Anomalies of the Kidney and Urinary Tract

PROVIDER: PRJNA507684 | ENA |

REPOSITORIES: ENA

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Genetics of Congenital Anomalies of the Kidney and Urinary Tract

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Project description:Various renal abnormalities including hydronephrosis, polycystic and hydroureter had been reported and these symptoms are present in DiGeorge syndrome, polycystic kidney disease, renal dysplasia and acute kidney failure. However, major target genes of renal abnormalities are not elucidated yet. Previous studies have reported that abnormal calcium homeostasis causes renal disease and calcium homeostasis is regulated by calcium channel. In this study, we focus on Ahnak that regulates calcium homeostasis. Ahnak is expressed in intra-cellular locations such as plasma membrane and cytoplasm. Ahnak plays a role in diverse processes as blood-brain barrier formation, cell structure, migration, calcium channel regulation, and tumor metastasis. Ahnak localization was confirmed in developing mouse kidney and ureter. Imbalance of calcium homeostasis and hydronephrosis which is expanded renal pelvis and hydroureter were observed in Ahnak KO mouse. Moreover, peristalsis movement of smooth muscle in ureter has reduced in Ahnak KO. These results indicated that Ahnak plays pivotal roles in kidney and ureter development and maintaining the function of urinary system. Examination of the gene expression between WT, Ahnak hetero and Ahnak KO kidney and ureter at PN1.

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