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Human pluripotent stem cell-derived kidney organoids reveal tubular epithelial pathobiology of heterozygous HNF1B-associated dysplastic kidney malformations K

ABSTRACT: Human pluripotent stem cell-derived kidney organoids reveal tubular epithelial pathobiology of heterozygous HNF1B-associated dysplastic kidney malformations K

PROVIDER: PRJEB81221 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	ERR13770909_1.fastq.gz	Fastqsanger.gz
	ERR13770909_2.fastq.gz	Fastqsanger.gz
	ERR13770910_1.fastq.gz	Fastqsanger.gz
	ERR13770910_2.fastq.gz	Fastqsanger.gz
	ERR13770911_1.fastq.gz	Fastqsanger.gz

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Human pluripotent stem cell-derived kidney organoids reveal tubular epithelial pathobiology of heterozygous HNF1B-associated dysplastic kidney malformations K

Project description:Hepatocyte nuclear factor 1B (HNF1B) encodes a transcription factor expressed in developing human kidney epithelia. Heterozygous HNF1B mutations are the commonest monogenic cause of dysplastic kidney malformations (DKMs). To understand their pathobiology, we generated heterozygous HNF1B mutant kidney organoids from CRISPR-Cas9 gene-edited human ESCs and iPSCs reprogrammed from a family with HNF1B-asscociated DKMs. Mutant organoids contained enlarged malformed tubules and displayed deregulated cell turnover. This submission contains kidney tissue samples.

2024-04-29 | E-MTAB-12822 | biostudies-arrayexpress

Human pluripotent stem cell-derived kidney organoids reveal tubular epithelial pathobiology of heterozygous HNF1B-associated dysplastic kidney malformations CL

2024-04-29 | E-MTAB-12824 | biostudies-arrayexpress

Human pluripotent stem cell-derived kidney organoids reveal tubular epithelial pathobiology of heterozygous HNF1B-associated dysplastic kidney malformations CL

Project description:Human pluripotent stem cell-derived kidney organoids reveal tubular epithelial pathobiology of heterozygous HNF1B-associated dysplastic kidney malformations CL

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Project description:Comparison of cistromes from GLIS3 and HNF1b ChIP-Seq analysis using mouse kidney was performed to examine whether there was a significant overlap in target genes between GLIS3 and HNF1b.

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Copy Number Variation in Congenital Kidney Malformations

Project description:<p>We report a study of large rare, copy number variants (CNVs) in 192 patients with renal hypodysplasia (RHD). Congenital malformations of the kidney and urinary tract are present in 3 to 7 per 1,000 births, accounting for 16% of birth defects. These malformations account for 40-50% of pediatric and 7% of adult end-stage renal disease worldwide. Among these malformations, RHD represents a severe forms of disease with profound impact on long-term renal survival. We found that a significant fraction of RHD patients have a molecular diagnosis attributable to a genomic disorder, suggesting kidney malformations as a sentinel manifestation of pathogenic genomic imbalances.</p>

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Gene expression array between wild-type and mutant Hnf1b cells

Project description:The complete specrtum of genes that are subject to regulation by Hnf1b in mouse kidney cells is not known. We used microarray to determine genes that are significenlty deregulated in repsonse to altered HNF1b activity.

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Identification of GLIS3 and HNF1b target genes in kidney

Project description:Identification of GLIS3 and HNF1b target genes in kidney

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Kids First: Genetics of kidney and urinary tract malformations

Project description:Kids First: Genetics of kidney and urinary tract malformations

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Kids First: Genetics of kidney and urinary tract malformations

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Topoisomerase I (TOP1) is a functional mitotic interactor of the bookmarking factor HNF1B [ChIPseq_786O]

Project description:HNF1B (Hepatocyte Nuclear Factor 1-Beta) is a POU-homeobox transcription factor expressed in kidney and frequently mutated in patients suffering from Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT). HNF1B is a bookmarking factor, able to bind mitotic chromatin and necessary for the post-mitotic reactivation of gene expression. In order to characterize the molecular functions of HNF1B as a bookmarking factor, we performed ChIPseq on asynchronous and mitotic renal cells. We developed a novel ChIP method with a non-aqueous crosslinking (NAQC) to circumvent the well-known artefactual effects of formaldehyde crosslinking of mitotic chromosomes. NAQC-ChIP allowed the retention of the mitotic signal that was lost with a regular ChIP. With this novel methodology, we show that the vast majority HNF1B binding sites detected in asynchronous cells are also bound in mitosis.

2024-10-01 | GSE245086 | GEO

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