Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Primary ciliary dyskinesia without obvious electron microscopy defects

ABSTRACT: Primary ciliary dyskinesia without obvious electron microscopy defects

PROVIDER: PRJNA635175 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
		Other

Items per page:

1 - 1 of 1

Similar Datasets

Primary ciliary dyskinesia without obvious electron microscopy defects

Project description:Primary ciliary dyskinesia without obvious electron microscopy defects

| PRJNA635176 | ENA

Spatial Transcriptomics correlated Electron Microscopy

Project description:Spatial Transcriptomics correlated Electron Microscopy

| PRJNA836860 | ENA

Spatial Transcriptomics correlated Electron Microscopy [MERFISH]

Project description:Spatial Transcriptomics correlated Electron Microscopy [MERFISH]

| PRJNA836863 | ENA

Spatial Transcriptomics correlated Electron Microscopy [scRNA-Seq]

Project description:Spatial Transcriptomics correlated Electron Microscopy [scRNA-Seq]

| PRJNA836864 | ENA

Spatial Transcriptomics correlated Electron Microscopy [scRNA-Seq]

Project description:Current spatial transcriptomics methods identify cell types and states in a spatial context but lack morphological information. Electron microscopy, in contrast, provides structural details at nanometer resolution without decoding the diverse cellular states and identity. STEM address this limitation by correlating multiplexed error-robust FISH with electron microscopy from adjacent tissue sections. Using STEM to characterize demyelinated lesions in mice, we were able to bridge spatially resolved transcriptional data with morphological information on cell identities. This approach allowed us to link the morphology of foamy microglia and interferon-response microglia with their transcriptional signatures.

2023-06-21 | GSE202636 | GEO

Genome-wide gene expression analysis in primary ciliary dyskinesia patients

Project description:We performed whole genome gene expression profiling in bronchial biopsies from PCD patients. We used the Quality Threshold clustering algorithm to identify groups of genes that revealed highly correlated RNA expression patterns in the biopsies. The largest cluster contained 372 genes and was significantly enriched for genes related to cilia. The database and literature search showed that 16250 genes in this cluster were known cilia genes, strongly indicating that the remaining 21022 genes were likely to be new cilia genes. The tissue expression pattern of the 210 new cilia genes and the 162 known genes was consistent with the presence of motile cilia in a given tissue. Analysis of the upstream promotor sequences revealed evidence for RFX transcription factors binding site motif in both subgroups. Total RNA obtained from 6 primary ciliary dyskinesia patients and 9 control individuals

2015-02-24 | E-GEOD-25186 | biostudies-arrayexpress

Spatial Transcriptomics correlated Electron Microscopy [MERFISH]

Project description:Current spatial transcriptomics methods provide molecular and spatial information but no morphological readout. Here, we present STEM - a method that correlates multiplexed error-robust FISH with electron microscopy from neighboring tissue sections of the same sample. STEM links transcriptional and spatial organization of single cells with ultrastructural morphology of the tissue in vivo. Using STEM to characterize demyelinated white-matter lesions allowed us to link morphology of myelin-laden foamy microglia to transcriptional signature. Moreover, we revealed that interferon-response microglia have unique morphology and are enriched near CD8 T-cells.

2023-06-21 | GSE202623 | GEO

Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia.

Project description:Cilia play essential roles in normal human development and health; cilia dysfunction results in diseases such as primary ciliary dyskinesia (PCD). Despite their importance, the native structure of human cilia is unknown, and structural defects in the cilia of patients are often undetectable or remain elusive because of heterogeneity. Here we develop an approach that enables visualization of human (patient) cilia at high-resolution using cryo-electron tomography of samples obtained noninvasively by nasal scrape biopsy. We present the native 3D structures of normal and PCD-causing RSPH1-mutant human respiratory cilia in unprecedented detail; this allows comparisons of cilia structure across evolutionarily distant species and reveals the previously unknown primary defect and the heterogeneous secondary defects in RSPH1-mutant cilia. Our data provide evidence for structural and functional heterogeneity in radial spokes, suggest a mechanism for the milder RSPH1 PCD phenotype and demonstrate that cryo-electron tomography can be applied to human disease by directly imaging patient samples.

| S-EPMC4267722 | biostudies-literature

Longitudinal Study of Primary Ciliary Dyskinesia: Participants 5-18 Years of Age - GDMCC 5901

Project description:Longitudinal Study of Primary Ciliary Dyskinesia: Participants 5-18 Years of Age - GDMCC 5901

| PRJNA188515 | ENA

Cryo-electron microscopy unravels microtubule inner protein networks reinforcing mammalian sperm flagella

Project description:To find and fuse with the egg, mammalian sperm must complete an arduous voyage through the female reproductive tract. This odyssey is powered by the sperm tail, a specialized motile cilium. Mammalian sperm tails are reinforced at the molecular scale with sperm-specific microtubule inner proteins (sperm-MIPs), but the identities of these sperm-MIPs are unknown. Here, we report high-resolution cryo-electron microscopy structures of bovine sperm doublet microtubules (DMTs), allowing us to identify many sperm-MIPs. We also resolve structures of singlet MTs in the endpiece, revealing MIPs shared between singlet and doublet MTs. We demonstrate that at least two sperm-MIPs bind and stabilize MTs in vitro. Our structures shed light on ciliary diversity across cell types and provide structural frameworks for understanding molecular underpinnings of male infertility

2023-06-20 | PXD035941 | Pride

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