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: PRJNA671480 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
		Other

Items per page:

1 - 1 of 1

Similar Datasets

Genetic modifiers of Syndromic Orofacial Clefts

Project description:Genetic modifiers of Syndromic Orofacial Clefts

| PRJNA671479 | ENA

Genetic Analysis of Syndromic Orofacial Clefting

Project description:Genetic Analysis of Syndromic Orofacial Clefting

| PRJNA860701 | ENA

Genetic Analysis of Syndromic Orofacial Clefting

Project description:Genetic Analysis of Syndromic Orofacial Clefting

| PRJNA860702 | 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

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

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

Kids First: Genomics of Orofacial Clefts in the Philippines

Project description:Kids First: Genomics of Orofacial Clefts in the Philippines

| PRJNA760581 | ENA

Kids First: Genomics of Orofacial Clefts in the Philippines

Project description:Kids First: Genomics of Orofacial Clefts in the Philippines

| PRJNA760635 | ENA

Genetic Modifiers of Huntington's Disease

Project description:Genetic Modifiers of Huntington's Disease

| PRJNA75833 | ENA

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