Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Genetic variants of the COL4A3, COL4A4, and COL4A5 genes contribute to thinned glomerular basement membrane lesions in sporadic IgA nephropathy patients

ABSTRACT: Contribution of pathogenic COL4A3/COL4A4/COL4A5 variants to sporadic IgAN is still unclear. Whole exome sequencing was performed in sporadic IgAN patients with thinned glomerular basement membrane lesions and variations in COL4A3/COL4A4/COL4A5 genes were screened and evaluated. 37 different diagnostic variants in COL4A3/COL4A4/COL4A5 gene in 38 patients (31.1%) were identified.

PROVIDER: EGAS00001006519 | EGA |

REPOSITORIES: EGA

ACCESS DATA

Json Xml

Similar Datasets

Identification of Candidate Genes for Sporadic Amyotrophic Lateral Sclerosis by Array Comparative Genomic Hybridisation

Project description:Background: Amyotrophic lateral sclerosis (ALS) is a devastating disorder of the central nervous system that leads to progressive loss of upper and lower motor neurons. Most cases are sporadic and of unknown aetiology. In this study, we screened 71 patients with sporadic ALS for the presence of DNA copy number variations, in order to identify novel candidate disease genes. Methods: We have used sub-megabase resolution BAC array comparative genomic hybridisation to detect genomic imbalances in our ALS patient cohort. In order to distinguish phenotypically neutral copy number variations occurring frequently in the normal population from disease-associated aberrations, we screened our results against both the Database of Genomic Variants and a reference data set of approximately 700 normal individuals and probands with other disorders analysed in our laboratory. Aberrations with potential relevance for disease aetiology were verified by oligo array CGH. Findings: In 71 patients with sporadic ALS, we identified a total of six duplications and seven deletions that scored above our threshold. Twelve of these thirteen variations were smaller than 1Mb. Seven were observed exclusively in ALS patients and thus likely play causal roles in the disorder. Analysis of these regions highlighted, for example, the SLC1A7 (EAAT5) glutamate transporter and the kinesin family member KIF9 as good positional and functional candidate genes for ALS. Interpretation: Non-polymorphic sub-microscopic duplications and deletions observable by array CGH are frequent in patients with sporadic ALS. Analysis of such aberrations serves as an excellent starting point in deciphering the aetiology of this complex disease. Keywords: array CGH A cohort of 71 ALS patients was analysed by means of a submegabase resolution BAC array. No replicates were included. Experiments were done without dye swap.

2008-12-24 | E-GEOD-7950 | biostudies-arrayexpress

Identification of Candidate Genes for Sporadic Amyotrophic Lateral Sclerosis by Array Comparative Genomic Hybridisation

2008-12-25 | GSE7950 | GEO

Sporadic ALS Australia

Project description:Sporadic ALS Australia

| PRJNA647703 | ENA

CGH profiles of sporadic breast tumors

Project description:Genomic DNA from sporadic breast tumours was isolated and analysed using array CGH. The NKI 1MB BAC/PAC micro array was used to identify chromosomal aberrations of all tumours. Keywords: sporadic breast tumour, CGH

2010-07-05 | GSE9114 | GEO

Sporadic Amyotrophic Lateral Sclerosis Study

Project description:Sporadic Amyotrophic Lateral Sclerosis Study

| PRJNA310034 | ENA

Are Sporadic Colorectal Cancers in Young Distinct From Elderly?

Project description:In this study, the investigators compared and evaluated the clinicopathological and oncological characteristics of sporadic colorectal cancer (CRC) in young adults without genetic mutations associated with hereditary CRC syndrome and sporadic CRC in elderly individuals.

| 2753068 | ecrin-mdr-crc

CGH profiles of sporadic basal-like breast tumors

2010-10-26 | GSE22401 | GEO

Gene Expression Profiling of Familial and Sporadic Cases of Interstitial Pneumonia

Project description:Rationale: Idiopathic interstitial pneumonia (IIP) and its’ familial variants are progressive and largely untreatable disorders with poorly understood molecular mechanisms. Both the genetics and the histologic type of IIP play a role in understanding the etiology and pathogenesis of interstitial lung disease, but transcriptional signatures of these subtypes are unknown. Objectives: To evaluate gene expression in the lung tissue from patients with usual interstitial pneumonia (UIP) and non-specific interstitial pneumonia (NSIP) that were either familial or non-familial in origin and compare them to gene expression from normal lung parenchyma. Methods: We profiled RNA from lungs of 16 patients with sporadic IIP, 10 with familial IIP, and 9 normal controls on a whole human genome oligonucleotide microarray. Results: Significant transcriptional differences exist in familial and sporadic IIPs. The genes distinguishing the genetic subtypes belong to the same functional categories as transcripts that distinguish IIP from normal samples. Relevant categories include chemokines and growth factors and their receptors, complement components, genes associated with cell proliferation and death, and genes in the Wnt pathway. Keywords: disease state analysis

2006-10-01 | GSE5774 | GEO

Microarray profiles from glomerular compartment of kidney biopsies from adults screened for enrollment in the NEPTUNE cohort

Project description:Glomerular Transcriptome from kidney biopsies of adult patients screened for enrollment into NEPTUNE

2022-04-15 | GSE200828 | GEO

Single-cell RNAseq analysis of kidney glomerular injury in IgA nephropathy

Project description:We applied scRNAseq analysis to investigate the mouse kidney glomerular injury in IgA nephropathy

2022-02-01 | GSE166793 | GEO