Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Changes to energy metabolism, and signal transduction (i.e. Notch and Wnt signalling) define the brain transcriptomic differences between mutations causative for early-onset familial Alzheimer’s disease or familial acne inversa in PRESENILIN 1

ABSTRACT: Changes to energy metabolism, and signal transduction (i.e. Notch and Wnt signalling) define the brain transcriptomic differences between mutations causative for early-onset familial Alzheimer’s disease or familial acne inversa in PRESENILIN 1

PROVIDER: PRJNA690794 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	SRR13388639_1.fastq.gz	Fastqsanger.gz
	SRR13388639_2.fastq.gz	Fastqsanger.gz
	SRR13388640_1.fastq.gz	Fastqsanger.gz
	SRR13388640_2.fastq.gz	Fastqsanger.gz
	SRR13388641_1.fastq.gz	Fastqsanger.gz

Items per page:

1 - 5 of 48

Similar Datasets

Changes to energy metabolism, and signal transduction (i.e. Notch and Wnt signalling) define the brain transcriptomic differences between mutations causative for early-onset familial Alzheimer’s disease or familial acne inversa in PRESENILIN 1

Project description:Background: Mutations in PRESENILIN 1 (PSEN1) which still produce a transcript encoding a full-length, but mutant protein are the most common cause of early-onset familial Alzheimer’s disease (EOfAD). The only frameshift mutations found in PSEN1 causes familial acne inversa (fAI) without EOfAD. The molecular consequences of heterozygosity for these mutations, and how they lead to completely different diseases, remains largely unexplored. Objective: To identify the similarities and differences of the effects of heterozygosity for mutations in psen1 causing EOfAD (T428del) or fAI (W233fs) on the brain transcriptome of young adult zebrafish. Methods: RNA sequencing was performed with high read depth on mRNA isolated from the brains of young adult (6 month old) zebrafish arising from a single family which contained either a single, heterozygous EOfAD-like or fAI-like mutation in the endogenous psen1 gene, and their wild type siblings. Results: Both mutations appeared to downregulate genes encoding the ribosomal subunits, and upregulated genes involved in inflammation. Genes involved in energy metabolism appeared to only be affected in EOfAD-like mutants, while genes involved in Notch, Wnt and neutrophin signalling pathways were only significantly altered by the fAI-like mutation. Further investigation of direct transcriptional targets of Notch revealed an apparent increase in Notch signalling. Conclusion: We observed both common, and distinct effects on transcriptomes of the heterozygous mutants compared to their wild type siblings. The distinct effects observed may shed light to how these mutations give rise to completely different diseases.

2021-02-01 | GSE164466 | GEO

Transcriptome of lesional skin of patients suffering from Acne inversa

Project description:Transcriptome of skin from Acne inversa lesions show specific alterations compared to healthy donor skin.

2020-11-03 | GSE122592 | GEO

Saussurea inversa

Project description:Saussurea inversa overview

| PRJNA666963 | ENA

A familial Alzheimer’s disease-like mutation in the zebrafish presenilin 1 gene affects brain energy production

Project description:To prevent or ameliorate Alzheimer’s disease (AD) requires that we understand its molecular basis. AD develops over decades but detailed molecular analysis of AD brains is limited to postmortem tissue where the stresses initiating the disease may be obscured by compensatory responses and neurodegenerative processes. Rare, dominant mutations in a small number of genes drive early onset of familial AD (EOfAD). Numerous transgenic models of AD have been constructed in mouse and other organisms based on these mutant genes, but transcriptomic analysis of these models has raised serious doubts regarding their representation of the disease state. Objective: In the absence of an understanding of the molecular mechanism(s) underlying AD, we posit that the most valid approach is to model the human genetic state as closely as possible – i.e. to analyse single, heterozygous EOfAD-like mutations of endogenous genes in intact brains. We used genome editing to introduce an EOfAD-like mutation (Q96_K97del) into the endogenous presenilin 1 (psen1) gene of zebrafish. We analysed transcriptomes of young adult (6-month-old) entire brains from a family of heterozygous mutant and wild type sibling fish. Gene ontology (GO) analysis revealed effects on mitochondria, particularly ATP synthesis, and on ATP-dependent processes including vacuolar acidification.

2019-02-06 | GSE126096 | GEO

miRNA expression signatures of acne inversa (AI) patients with NCSTN mutations and healthy individuals

Project description:To elucidate the relationship between NCSTN mutations and familial AI pathogenesis by investigating differential miRNA expression, we have employed miRNA microarray profiling as a discovery platform to identify miRNA with the potential to be involved in familial AI pathogenesis. Skin biopsies were obtained from the lesions of AI patients with NCSTN mutations . Control skin tissues were obtained from healthy individuals undergoing cosmetic surgery procedures

2018-05-11 | GSE114276 | GEO

aCGH analysis of familial Alzheimer’s disease with presenilin 2 mutation patient-specific induced pluripotent stem cells

Project description:We established two clones of induced pluripotent stem cells (iPSC) with the presenilin 2 mutation, N141 (PS2-1 iPSC and PS2-2 iPSC) by retroviral transduction of primary human fibroblasts. To detect the copy number dependent gene expression profiles in primary fibroblast carrying the presenilin 2 mutation N141(before reprogramming) and PS2-1 iPSC and PS2-2 iPSC(after reprogramming), this experiment was designed. Genomic DNA of primary fibroblasts carrying the presenilin 2 mutation N141 and undifferentiated PS2-1 iPSC and PS2-2 iPSC were collected. Then, they were applied in this experiment.

2011-09-09 | E-GEOD-28450 | biostudies-arrayexpress

Saussurea inversa

Project description:Saussurea inversa Raw sequence reads

| PRJNA635206 | ENA

aCGH analysis of familial Alzheimer’s disease with presenilin 2 mutation patient-specific induced pluripotent stem cells

2011-09-10 | GSE28450 | GEO

Transcriptome sequencing of differentially expressed genes in acne inversa (AI) patients with NCSTN mutation and healthy individuals

Project description:To elucidate the relationship between NCSTN mutations and familial AI pathogenesis by investigating differential gene expression, we have employed transcriptome sequencing profiling as a discovery platform to identify genes with the potential to be involved in familial AI pathogenesis. Skin biopsies were obtained from the lesions of AI patients with NCSTN mutations . Control skin tissues were obtained from healthy individuals undergoing cosmetic surgery procedures

2018-05-31 | GSE115099 | GEO

Comorbidities of hidradenitis suppurativa (acne inversa).

Project description:Comorbidities of hidradenitis suppurativa (acne inversa) were reviewed by extracting original and review publications included in MEDLINE, EMBASE and COCHRANE libraries using the terms "hidradenitis," "Verneuil" and "acne inversa." Follicular occlusion disorders, inflammatory bowel diseases, especially Crohn disease, spondylarthropathy, other hyperergic diseases, genetic keratin disorders associated with follicular occlusion and squamous cell carcinoma were the most common hidradenitis suppurativa comorbid diseases. A first classification of these major comorbidities and their possible genetic background reveals a list of chromosome loci and genes, which could be hidradenitis suppurativa candidates. Most of these diseases belong to the group of autoinflammatory disorders, where th17 cell cytokines seem to play a central role.

| S-EPMC3084959 | biostudies-literature

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