Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Germline Variant in Ctcf Links Mental Retardation to Wilms Tumor Predisposition

ABSTRACT: This SuperSeries is composed of the SubSeries listed below.

ORGANISM(S): Homo sapiens

PROVIDER: GSE193235 | GEO | 2022/01/11

REPOSITORIES: GEO

ACCESS DATA

Json Xml

Similar Datasets

Germline Variant in Ctcf Links Mental Retardation to Wilms Tumor Predisposition

Project description:SNP arrays was combined with next generation sequencing (NGS) to identify an LOH in 16q together with an unreported CTCF missense variant in its zinc finger domain. CTCF is within 16q LOH. We found that germline heterozygous variant I446K became homozygous in the tumor due to a loss of heterozygosity rearrangement affecting the whole q arm on chromosome 16. Based on CTCF role in regulating the epigenetic architechture of the genome, our findings reveal CTCF variant I446K as a link between MRD21 and Wilms tumor predisposition.

2022-01-11 | GSE193233 | GEO

Germline Variant in *Ctcf* Links Mental Retardation to Wilms Tumor Predisposition

Project description:Germline Variant in *Ctcf* Links Mental Retardation to Wilms Tumor Predisposition

| PRJNA795462 | ENA

Germline Variant in Ctcf Links Mental Retardation to Wilms Tumor Predisposition

Project description:Germline Variant in Ctcf Links Mental Retardation to Wilms Tumor Predisposition

| PRJNA795463 | ENA

The Genetic and Epigenetic Features of Bilateral Wilms Tumor Predisposition

Project description:This SuperSeries is composed of the SubSeries listed below.

2023-11-09 | GSE226480 | GEO

Mental Retardation Patients

Project description:Profiling the genomic profiles of mental retardation patients. 13 mental retardation patients were selected for detection of genomic aberrations.

2009-12-16 | GSE19457 | GEO

Mental Retardation Patients

Project description:Profiling the genomic profiles of mental retardation patients. 13 mental retardation patients were selected for detection of genomic aberrations. Patient's DNA were hybridized against Promega control on Agilent G4426B arrays and scanned with the Agilent G2505B scanner.

2010-05-18 | E-GEOD-19457 | biostudies-arrayexpress

Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition.

Project description: Not available

| S-EPMC6752675 | biostudies-literature

ARX transcription factor implicated in mental retardation and epilepsy

Project description:This SuperSeries is composed of the SubSeries listed below.

2011-12-22 | GSE30191 | GEO

SNP array data for Wilms Tumor harboring de novo germline mutation in CTCF

Project description:SNP array was combined with next generation sequencing (NGS) to identify a unique de novo germline mutation in CTCF that became homozygous in the tumor. SNP array shows an LOH through chr16q where CTCF is located.

2022-01-11 | GSE193017 | GEO

Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes.

Project description: Not available

| S-EPMC6310222 | biostudies-literature