Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

ABSTRACT: High-fidelity long-read sequencing for Korean congenital adrenal hyperplasia patients

PROVIDER: PRJNA1233893 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	SRR32761871_subreads.fastq.gz	Fastqsanger.gz
	SRR32761872_subreads.fastq.gz	Fastqsanger.gz
	SRR32761873_subreads.fastq.gz	Fastqsanger.gz
	SRR32761874_subreads.fastq.gz	Fastqsanger.gz
	SRR32761875_subreads.fastq.gz	Fastqsanger.gz

Items per page:

1 - 5 of 13

Similar Datasets

Project description:long-read sequencing of congenital adrenal hyperplasia

| PRJNA1152331 | ENA

Project description:Whole exome sequencing of Congenital Adrenal Hyperplasia (CAH) patients

| PRJNA1234864 | ENA

Project description:Variants causing lipoid congenital adrenal hyperplasia

| PRJNA849643 | ENA

Project description:Gene sequencing about adrenal diseases and diabetes in a congenital adrenal hyperplasia patient

| PRJNA715113 | ENA

In vivo verification of the pathophysiology of lipoid congenital adrenal hyperplasia in the adrenal cortex

Project description:Our study showed that the steroidogenic capacity firstly decreased without tissue change (the first hit) and secondarily declined with tissue change (the second hit) in the adrenal cortex of lipoid congenital adrenal hyperplasia. The key feature of the secondary decline of steroidogenic capacity might be the decreased gene expression related to steroid biosynthesis following the lipid accumulation exacerbated by ACTH hypersecretion.

2018-12-04 | GSE123300 | GEO

Project description:Morphologic and molecular characterization of adrenals and adrenal rest affected by congenital adrenal hyperplasia

| PRJNA761730 | ENA

In vivo verification of the pathophysiology of lipoid congenital adrenal hyperplasia in the adrenal cortex

Project description:In vivo verification of the pathophysiology of lipoid congenital adrenal hyperplasia in the adrenal cortex

| PRJNA508210 | ENA

Homo sapiens

Project description:Haplotype-based noninvasive prenatal diagnosis of congenital adrenal hyperplasia by maternal plasma sequencing

| PRJNA209404 | ENA

Affymetrix SNP6 array data for ACTH-Independent Macronodular Adrenal Hyperplasia (AIMAH) samples

Project description:AIMAH is an ACTH-independent bilateral enlargement of the adrenal cortex occuring during adulthood. The enlargment is related to the growth of multiple benign nodules. This condition is associated with various degrees of cortisol hypersecretion. The occurence of several nodules in both adrenals, and the existence of familial forms, suggest the existence of a germline genetic predisposition. To find the gene(s), the aim of the project was to look for recurrent chromosomal alterations in the AIMAH nodules. Extensive mapping of somatic gains, losses and copy-neutral loss of heterozygosity (LOH) was performed with Affymetrix SNP6 arrays. A copy neutral LOH of 16p, occuring in 7 of 26 patients, was one of the only recurrent alterations, pointing towards a candidate gene in this region. Of note this condition differs from the congenital adrenal hyperplasias, related to genetic alterations of steroidogenesis (the latter is an ACTH dependent adrenal hyperplasia). Affymetrix SNP6 arrays were performed according to the manufacturer's directions on DNA extracted from cryopreserved tumor samples or peripheral blood samples. Copy number and LOH analysis of Affymetrix SNP6 arrays was performed for AIMAH nodules from 26 patients, including 18 with paired leucocyte and nodules (1 to 4 nodules per patient), and 8 with a single nodule (no paired leucocyte available)

2013-11-28 | E-GEOD-42171 | biostudies-arrayexpress

Transcription profiling by array of human adrenocortical tumors to identify molecular predictors of diagnosis and prognosis

Project description:A ""Cartes d'Identite des Tumeurs"" (CIT) project from the french Ligue Nationale Contre le Cancer (http://cit.ligue-cancer.net). 92 samples on Affymetrix HG-U133 Plus 2.0 GeneChips arrays for 92 patients with Adrenocortical Tumors (ACT). 4 normal adrenal samples from the same batch are also included. 10 ACTH-independant Macronodular Adrenal Hyperplasia (AIMAH) from the same batch are also included.

2009-01-15 | E-TABM-311 | biostudies-arrayexpress

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data