Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Genetic modifiers of Syndromic Orofacial Clefts

ABSTRACT: Genetic modifiers of Syndromic Orofacial Clefts

PROVIDER: PRJNA671479 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Similar Datasets

Genetic modifiers of Syndromic Orofacial Clefts

Project description:Genetic modifiers of Syndromic Orofacial Clefts

| PRJNA671480 | ENA

Disruption of DNA methylation-mediated cranial neural crest proliferation and differentiation causes orofacial clefts in mice

Project description:Orofacial clefts of the lip and palate are widely recognized to result from complex gene–environment interactions, but inadequate understanding of environmental risk factors has stymied development of prevention strategies. We interrogated the role of DNA methylation, an environmentally malleable epigenetic mechanism, in orofacial development. Expression of the key DNA methyltransferase enzyme DNMT1 was detected throughout palate morphogenesis in the epithelium and underlying cranial neural crest cell (cNCC) mesenchyme, a highly proliferative multipotent stem cell population that forms orofacial connective tissue. Genetic and pharmacologic manipulations of DNMT activity were then applied to define the tissue- and timing-dependent requirement of DNA methylation in orofacial development. cNCC-specific Dnmt1 inactivation targeting initial palate outgrowth resulted in OFCs, while later targeting during palatal shelf elevation and elongation did not. Conditional Dnmt1 deletion reduced cNCC proliferation and subsequent differentiation trajectory, resulting in attenuated outgrowth of the palatal shelves and altered development of cNCC-derived skeletal elements. Finally, we found that the cellular mechanisms of cleft pathogenesis observed in vivo can be recapitulated by pharmacologically reducing DNA methylation in multipotent cNCCs cultured in vitro. These findings demonstrate that DNA methylation is a crucial epigenetic regulator of cNCC biology, define a critical period of development in which its disruption directly causes OFCs, and provide opportunities to identify environmental influences that contribute to OFC risk.

2023-12-20 | GSE250370 | GEO

Identification of human orofacial enhancers and their role in orofacial clefts

Project description:Identification of human orofacial enhancers and their role in orofacial clefts

| PRJNA624190 | ENA

Identification of human orofacial enhancers and their role in orofacial clefts

Project description:Identification of human orofacial enhancers and their role in orofacial clefts

| PRJNA624191 | ENA

Genetic Modifiers of Huntington's Disease

Project description:Genetic Modifiers of Huntington's Disease

| PRJNA75833 | ENA

Genetic markers for non-syndromic orofacial clefts in populations of European ancestry: a meta-analysis.

Project description: Not available

| S-EPMC8786890 | biostudies-literature

Genome-wide Association Study for Non-syndromic Clefts in the African Population: CIDR

Project description:Genome-wide Association Study for Non-syndromic Clefts in the African Population: CIDR

| PRJNA315716 | ENA

Murine orofacial development

Project description:Developmental gene expression profiling of mammalian, fetal orofacial tissue Keywords = orofacial Keywords = embryo Keywords = development Keywords: time-course

2004-08-03 | GSE1624 | GEO

Genetic Factors in Nonsyndromic Orofacial Clefts.

Project description: Not available

| S-EPMC7938794 | biostudies-literature

Deregulated Adhesion Program in Palatal Keratinocytes of Orofacial Cleft Patients

Project description:Orofacial clefts (OFCs) are the most frequent craniofacial birth defects. An orofacial cleft (OFC) occurs as a result of deviations in palatogenesis. Cell proliferation, differentiation, adhesion, migration and apoptosis are crucial in palatogenesis. We hypothesized that deregulation of these processes in oral keratinocytes contributes to OFC. We performed microarray expression analysis on palatal keratinocytes from OFC and non-OFC individuals. Principal component analysis showed a clear difference in gene expression with 24 and 17% for the first and second component respectively. In OFC cells, 228 genes were differentially expressed (p<0.001). Gene ontology analysis showed enrichment of genes involved in β1 integrin-mediated adhesion and migration, as well as in P-cadherin expression. A scratch assay demonstrated reduced migration of OFC keratinocytes (343.6 ± 29.62 μm) vs. non-OFC keratinocytes (503.4 ± 41.81 μm, p<0.05). Our results indicate that adhesion and migration are deregulated in OFC keratinocytes, which might contribute to OFC pathogenesis.

2019-10-22 | GSE139222 | GEO

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

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