Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Single cell RNA-sequencing of Bardet Biedl Syndrome iPSC-derived hypothalamic neurons

ABSTRACT: Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive disorder caused by mutations in genes encoding components of the primary cilium and characterized by hyperphagic obesity. We developed a cellular model of BBS using induced pluripotent stem cell (iPSCs)-derived hypothalamic arcuate-like neurons. Single-cell RNA sequencing of iPSC-derived hypothalamic neurons from BBS1M390R and isogenic control identified affected cell subpopulations and several down-regulated pathways in BBS1 hypomorphic neurons, including axon guidance, insulin signaling and cAMP pathway.

ORGANISM(S): Homo sapiens

PROVIDER: GSE164891 | GEO | 2021/09/01

REPOSITORIES: GEO

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
		Other

Items per page:

1 - 1 of 1

Similar Datasets

RNA-Seq Analysis in hES/ iPS cell-derived neuronal samples

Project description:We characterized the gene expression by Hierarchical Clustering and one-matrix clustering in hESC, day 12 progenitors, day 25-day 27, day82 differentiated hypothalamic neurons from hESCs and day 45 neurons derived from iPSCs generated from controls (2 independent) and BBS (Bardet-Biedl Syndrome, 3 independent) subjects.

2014-12-30 | GSE62936 | GEO

Single cell RNA-sequencing of Bardet Biedl Syndrome iPSC-derived hypothalamic neurons

Project description:Single cell RNA-sequencing of Bardet Biedl Syndrome iPSC-derived hypothalamic neurons

| PRJNA692372 | ENA

Promoter capture Hi-C of human SGBS (Simpson-Golabi-Behmel syndrome preadipocyte) cells and iPSC-derived hypothalamic cells

Project description:To identify distal chromatin contacts between promoters and their putative regulatory elements in SGBS preadipocytes and hypothalamic arcuate-like neurons derived from iPSC, we performed Hi-C with a capture step to enrich the library for contacts involving promoters. Hi-C with a capture step was performed according to PMID: 29988018

2021-03-20 | E-MTAB-10200 | biostudies-arrayexpress

Paraventricular hypothalamic RUVBL2 neurons suppress appetite by enhancing excitatory synaptic transmission in distinct neurocircuits

Project description:The paraventricular hypothalamus (PVH) is crucial for food intake control, yet the presynaptic mechanisms underlying PVH neurons remain unclear. Here, we show that RUVBL2 in the PVH is significantly reduced during energy deficit, and knockout (KO) of PVH RUVBL2 results in hyperphagic obesity in mice. RUVBL2-expressing neurons in the PVH (PVHRUVBL2) exert the anorexigenic effect by projecting to the arcuate hypothalamus, the dorsomedial hypothalamus, and the parabrachial complex. We further demonstrate that PVHRUVBL2 neurons form the synaptic connections with POMC and AgRP neurons in the ARC. PVH RUVBL2 KO impairs the excitatory synaptic transmission by reducing presynaptic boutons and synaptic vesicles near active zone. Finally, RUVBL2 overexpression in the PVH suppresses food intake and protects against diet induced obesity. Together, this study demonstrates an essential role for PVH RUVBL2 in food intake control, and suggests that modulation of synaptic plasticity could be an effective way to curb appetite and obesity.

2024-10-02 | GSE249791 | GEO

Irx3 and Irx5 regulate hypothalamic postnatal neurogenesis and leptin sensitivity (DROP-seq)

Project description:Drop-Seq single cell RNA sequencing of hypothalamic arcuate nucleus and median eminence from wildtype and Irx3/5 double heterozygous mice

2021-02-18 | GSE142243 | GEO

ATAC-seq of iPSC-derived hypothalamic arcuate-like neuron cells

Project description:We performed ATAC-seq on iPSC-derived hypothalamic arcuate-like neuron cells to identify putative regulatory elements. All samples were derived from the same individual and from the same differentiation/cell line but ATAC-seq was performed in 3 separate experiments (3 technical replicates).

2021-04-01 | E-MTAB-10257 | biostudies-arrayexpress

Hypothalamic thyroid hormone deficiency underlies reversible anorexia in a mammalian hibernator

Project description:Mammalian hibernators survive prolonged periods of cold and resource scarcity by temporarily modulating normal physiological functions, but the mechanisms underlying these adaptations are poorly understood. The hibernation cycle of thirteen-lined ground squirrels lasts for 5–7 months and comprises weeks of hypometabolic, hypothermic torpor interspersed with 24–48-hour periods of an active-like interbout arousal (IBA) state. We show that ground squirrels, who endure the entire hibernation season without food, have negligible hunger drive during IBAs. We further demonstrate that squirrels exhibit reversible inhibition of the hypothalamic feeding center, such that hypothalamic arcuate nucleus neurons have reduced sensitivity to the orexigenic and anorexigenic effects of ghrelin and leptin, respectively. However, hypothalamic infusion of thyroid hormone during an IBA is sufficient to rescue hibernation anorexia. Our results reveal that thyroid hormone deficiency underlies hibernation anorexia and demonstrate the functional flexibility of the hypothalamic feeding center.

2024-04-03 | GSE242381 | GEO

Comparative tissue gene expression profiling and alternative splicing by exon-sensitive microarrays in non-syndromic craniosynostosis

Project description:Craniosynostosis (CS) is the congenital premature fusion of one or more cranial sutures and represents the more prevalent craniofacial malformation in humans, with an overall incidence of 1 out of 2000-3000 live births. Non-syndromic craniosynostoses (NSC) are believed to be multifactorial disorders, with a strong genetic component, due to possible gene–gene or gene–environment interactions that remain to be clearly identified. In this study we delved into the molecular signaling acting in calvarial tissue and cells from patients affected by nonsynodromic midline craniosynostosis, using a comparative analysis between fused and unfused sutures of each affected individuals. Using comparative microarray tissue gene expression profiling we have identified a subset of genes involved in the structure and function of the primary cilium, including the Bardet-Biedl syndrome 9 (BBS9) gene, which was recently associated to sagittal synostosis in a GWAS study. We therefore characterized BBS9 expression and cilium-related signaling in cells isolated from patients’ calvarial bone.

2018-05-31 | GSE79386 | GEO

Irx3 and Irx5 regulate hypothalamic postnatal neurogenesis and leptin sensitivity (10X Genomics scRNA-seq)

Project description:Single cell sequencing of Ins2-Cre;ptdTomato+ FACS sorted cells from micro-dissected hypothalamic arcuate nucleus and median eminence of wildtype and Irx3/5 double heterozygous mice.

2021-02-18 | GSE154969 | GEO

Single-cell RNA-seq of mouse hypothalamus

Project description:We sampled neurons populating the space encapsulated by the paraventricular and arcuate hypothalamic nuclei (rostrocaudal direction) and the ventromedial and dorsomedial hypothalamic nuclei marking its lateral extent. These neurons likely integrate metabolic and stress circuitries. Detailed clustering information on 898 neurons and the annotation of other cell types are presented.

2016-12-01 | GSE74672 | GEO

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