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Loss of Ahnak is associated with Congenital Anomalies of the Kidney and Urinary Tract

ABSTRACT: Loss of Ahnak is associated with Congenital Anomalies of the Kidney and Urinary Tract

PROVIDER: PRJNA906144 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR22434471_1.fastq.gz	Fastqsanger.gz
	SRR22434471_2.fastq.gz	Fastqsanger.gz
	SRR22434472_1.fastq.gz	Fastqsanger.gz
	SRR22434472_2.fastq.gz	Fastqsanger.gz
	SRR22434473.fastq.gz	Fastqsanger.gz

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Genetics of Congenital Anomalies of the Kidney and Urinary Tract

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Loss of Ahnak is associated with Congenital Anomalies of the Kidney and Urinary Tract

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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Integrated analysis of copy number variation-associated lncRNAs identifies candidates contributing to the etiologies of congenital kidney anomalies.

Project description:We analyzed lncRNAs located in CNV loci associated with congenital anomalies of the kidney and urinary tract (CAKUT). HSALNG0134318 at CNV 22q11 was identified as CAKUT related lncRNA, which was coexpressed with multiple known CAKUT associated genes. To validate our findings, we performed knockdown experiments in HEK293 cell line to characterize the trascriptomic profiles regulated by HSALNG0134318 in human embryonic kidney cells.

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Genome-wide copy number variation analysis of congenital kidney anomalies

Project description:To identify novel genetic causes of congenital kidney anomalies(KA), we performed a whole genome copy number variation (CNV) detection in 62 patients with KA using Agilent SurePrint G3 Human CGH Microarray Kit (1x1M). Agilent sex-matched human DNA was used as reference. Data were extracted using Agilent Feature Extraction software v10.7 and CNVs were called using the ADM-II algorithm with a threshold of 6.0 in Agilent CytoGenomics software v5.0. With a systematic analysis, we identified 10 known or novel genomic imbalances in 9 (14.5%) cases.

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Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT).

Project description:This article reviews the majority of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) with emphasis in Pediatric Pathology describing and illustrating lesions as varied as ureteral duplications, ureteropelvic junction obstruction, horseshoe kidney, posterior urethral valve and prune belly syndrome, obstructive renal dysplasia, nonmotile ciliopathies and several syndromes associated with renal malformations (Meckel-Joubert, short rib, Bardet-Biedl, asplenia/polysplenia, hereditary renal adysplasia, Zellweger, trisomies, VACTER-L, Potter, caudal dysplasia, and sirenomelia), as well as ADPK, and ARPK. The purpose of this review is not only to describe the congenital renal anomalies, but also to analyze the more recent therapeutic interventions that may modify the natural history of some of these severe conditions.

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