Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Genetics of CAKUT

ABSTRACT:

The Genetics of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) contributes data from unrelated individuals who were recruited at the Columbia University Medical Center, NY; the Polish Registry of Congenital Malformations, Poland; the Universities of Parma, Bari and Brescia and the Gaslini Insitute, in Italy; the University of Skopje, Macedonia; and VUMC of Amsterdam, in The Netherlands. These individuals consented to share their data for scientific discovery. The purpose of the study is to investigate the genetic architecture of CAKUT. Genomic DNA samples were genotyped on the Illumina Multi-Ethnic Global Array (MEGA), designed by the MEGA Consortium.

PROVIDER: phs001749 | dbGaP |

REPOSITORIES: dbGaP

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	GapExchange_phs001749.v1.p1.xml	Xml
	dbGaPEx2.1.5.xsd	Other
	Study_Report.phs001749.CongenitalAnomalies_Kidney_UT.v1.p1.MULTI.pdf	Pdf
	manifest_phs001749.CongenitalAnomalies_Kidney_UT.v1.p1.c1.GRU-IRB.pdf	Pdf
	datadict_v2.xsl	Other

Items per page:

1 - 5 of 31

Similar Datasets

Molecular characterization of the genital organizer: Gene expression profile of the mouse urethral plate epithelium (GUDMAP Series ID: 51)

Project description:Lower urinary tract malformations are among the most common congenital anomalies in humans. The urethral plate epithelium is an endodermal signaling region that plays an essential role in external genital development; however, little is known about the molecular identity of this cell population or the genes that regulate its activity. We aim to characterize differences in gene expression between the urethral plate epithelium and surrounding mouse genital tubercles during a crucial developmental period.

2017-01-31 | GSE81726 | GEO

Major MLL fusion partners regulate promoter-proximal pausing and release of RNA polymerase II

Project description:1Sheng Yushou Center of Cell Biology and Immunology, Department of Genetics and Developmental Biology, School of Life Sciences and Biotechnology, Shanghai Jiao Tong University, Shanghai, 200240, China. 2Laboratory of Biochemistry and Molecular Biology, The Rockefeller University, New York, NY 10065, USA. 3Systems Biology Center, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA. 4CCTS Bioinformatic Program, The Rockefeller University, New York, NY 10065, USA. 5State Key Laboratory of Genetic Engineering & Ministry of Education Key Laboratory of Contemporary Anthropology, Collaborative Innovation Center of Genetics and Development, School of Life Sciences, Fudan University, Shanghai, 200438, China

2021-06-30 | GSE84157 | GEO

Global interpretation of novel alternative splicing events in human congenital pulmonary airway malformations

Project description:To explore the long non-coding RNA (lncRNA) expression pattern of congenital lung malformations on a genome-wide scale and investigate their potential biological function in four types of congenital lung malformations.

2021-12-07 | GSE179404 | GEO

Novel molecular and phenotypic insights into congenital lung malformations

Project description:The purpose of this study was to identify gene expression changes associated with congenital lung malformations.

2018-01-23 | GSE100442 | GEO

Late stage ovarian cancer gene expression profiles

Project description:Gene expression profiling on 63 stage III-IV papillary serous ovarian cancer samples resected during primary debulking at the University of Turin, Italy. Only the primary ovarian mass and no metastases were included in this analysis. The study focused on ovarian cancer chemokine expressions

2014-12-04 | GSE62873 | GEO

Homo sapiens

Project description:Copy number variation in congenital kidney malformations

| PRJNA182587 | ENA

Homo sapiens

Project description:Copy number variation in congenital kidney malformations

| PRJNA182588 | ENA

Whole-genome methylation study of congenital lung malformations in children

Project description:The treatment of asymptomatic patients with congenital pulmonary malformations (CPMs) remains controversial, partially because the relationship between congenital lung malformations and malignancy is still undefined. Change in methylation pattern is a crucial event in human cancer, including lung cancer. We therefore studied all differentially methylated regions (DMRs) in a series of CPMs in an attempt to find methylation anomalies in genes already described in association with malignancy. The DNA extracted from resected congenital lung malformations and control lung tissue was screened using Illumina MethylationEPIC arrays. Comparison between the group of malformed samples or the malformed samples of same histology or each malformed sample and the controls, and between a pleuropulmonary blastoma (PPB) and controls were performed. All differentially methylated regions (DMRs) with an adjusted p value < 0,05 were studied. Every comparison highlighted a number of DMRs closed to genes involved either in cell proliferation or in embryonic development or included in the Cancer Gene Census. Their abnormal methylation had been already described in lung tumors. The presence of methylation abnormalities is suggestive of a correlation between congenital lung malformations and some step of malignant transformation.

2021-05-19 | GSE174625 | GEO

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>

| phs000565 | dbGaP

SIRT1 deficiency enhances RA induced mESC differentiation

Project description:Retinoid homeostasis is critical for normal embryonic development, and both the deficiency and excess of these compounds are associated with congenital malformations. Here we found that SIRT1, the most conserved mammalian NAD+-dependent deacetylase, contributes to the maintenance of homeostatic retinoic acid (RA) signaling and modulates mouse embryonic stem cell (mESC) differentiation. Our data show that SIRT1 deficiency enhances RA signaling, thereby accelerating mES cell differentiation in response to RA. Our findings highlight the importance of SIRT1 in transcriptional regulation of ESC pluripotency and embryogenesis.

2014-08-21 | GSE59140 | GEO