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PKD Labrador Study

ABSTRACT: Discovery of variants that segregate with PKD

PROVIDER: PRJEB34050 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	ERR3485772_1.fastq.gz	Fastqsanger.gz
	ERR3485772_2.fastq.gz	Fastqsanger.gz
	ERR3485773_1.fastq.gz	Fastqsanger.gz
	ERR3485773_2.fastq.gz	Fastqsanger.gz
	ERR3485774_1.fastq.gz	Fastqsanger.gz

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RNA-sequencing of renal cells from Setd2-wildtype PKD and Setd2-knlckout ccRCC mice.

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Effect of global Caspase-1 (Casp1) knockout (KO) on kidney gene expression in an orthologous mouse model of polycystic kidney disease (PKD)

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RNA-sequencing of renal cells from Setd2-wildtype PKD and Setd2-knlckout ccRCC mice.

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Aberrant transcriptional networks in neurogenesis of Paroxysmal Kinesigenic Dyskinesia-induced pluripotent stem cell lines though neural induction method of dual inhibition of SMAD signaling

Project description:Paroxysmal kinesigenic dyskinesia (PKD) is an episodic movement disorder with autosomal-dominant inheritance and marked variability in clinical manifestations.Proline-rich transmembrane protein 2 (PRRT2) has been identified as a causative gene of PKD, but the molecular mechanism underlying the pathogenesis of PKD still remains a mystery. The phenotypes and transcriptional patterns of the PKD disease need further clarification. Here, we report the generation and neural differentiation of iPSC lines from two familial PKD patients with c.487C>T (p. Gln163X) and c.573dupT (p. Gly192Trpfs*8) PRRT2 mutations, respectively. Notably, an extremely lower efficiency in neural conversion from PKD-iPSCs than control-iPSCs is observed by using the iPSC-neural differentiation protocol that relies on the dual inhibition of SMAD signaling. Moreover, we show the high expression level of PRRT2 throughout the human brain and the expression pattern of PRRT2 in other human tissues for the first time. To gain molecular insight into the development of the disease, we conduct global gene expression profiling of PKD cells at four different stages of neural induction and identify altered gene expression patterns, which peculiarly reflect dysregulated neural transcriptome signatures and a differentiation tendency to mesodermal development, in comparison to control-iPSCs. Additionally, functional and signaling pathway analyses indicate significantly different cell fate determination between PKD-iPSCs and controls-iPSCs. Together, the establishment of PKD-specific in vitro models and the illustration of transcriptome features in PKD cells would certainly help us with better understanding of the defects in neural conversion as well as further investigations in the pathogenesis of the PKD disease.

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Potential therapeutic effects of long-term stem cells administration: impact on the gene profile and kidney function of PKD/Mhm (Cy/+) rats [PKD_Jan19]

Project description:Cystic kidney disease (CKD) is a heterogeneous group of genetic disorders and one of the most common causes of end-stage renal disease. Here, we investigate the potential effects of long-term human stem cells treatment on kidney function and the gene expression profile of PKD/Mhm (Cy/+) rats. Human adipose derived stromal cells (ASC) and human skin-derived ABCB5+ stromal cells (2x106) were monthly, over a period of 6 months, infused intravenously or injected intraperitoneally. Additionally, ASC and ABCB5+ derived conditioned media were administrated intraperitoneally. Gene expression profile results showed a significant reprogramming of metabolism related pathways along with the down-regulation of cAMP, NF-B and apoptosis pathways. During the experimental period, the principal renal parameters as well as renal function using an innovative non-invasive transcutaneous device were measured. All together, these analyses show a moderate amelioration of the renal function in ABCB5+ and ASC treated groups. Additionally, ABCB5+ and ASC derived conditioned media treatments lead to milder, but still promising improvements. Cell-based therapy may constitute a novel therapeutic approach in CKD.

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