Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Segmental overgrowth/vascular anomalies/dermatologic disorders

ABSTRACT: Segmental overgrowth/vascular anomalies/dermatologic disorders

PROVIDER: PRJNA623429 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
		Other

Items per page:

1 - 1 of 1

Similar Datasets

Segmental overgrowth/vascular anomalies/dermatologic disorders

Project description:Segmental overgrowth/vascular anomalies/dermatologic disorders

| PRJNA623430 | ENA

Kids First: Genetic Spectrum of Vascular Anomalies, Overgrowth and Structural Birth Defects

Project description:Kids First: Genetic Spectrum of Vascular Anomalies, Overgrowth and Structural Birth Defects

| PRJNA760636 | ENA

Genetic study of vascular anomalies

Project description:Genetic study of vascular anomalies

| PRJNA932913 | ENA

Genetic study of vascular anomalies

Project description:Genetic study of vascular anomalies

| PRJNA932915 | ENA

NPA-induced vascular overgrowth in Arabidopsis

Project description:We used N-(1-naphthyl) phthalamic acid (NPA)-induced vascular overgrowth in Arabidopsis leaves to look for differential up-regulation of genes in NPA-treated tissues that may be involved in vascular differentiation. Arabidopsis thaliana Col-0 plants were grown for approximately 2 weeks on solid ATS medium (1) containing a final concentration of 10 um NPA (dissolved in DMSO) or an equivalent volume of DMSO (control). At this stage plants had approximately 6 rosette leaves. RNA was prepared from entire shoot tissues of control (DMSO) or NPA-treated plants.(1) Lincoln et al., 1990. Plant Cell 2: 1071-1080. 2 samples were used in this experiment.

2009-12-05 | E-GEOD-19262 | biostudies-arrayexpress

NPA-induced vascular overgrowth in Arabidopsis

2009-12-05 | GSE19262 | GEO

Dll3 and Notch1 genetic interactions model axial segmental and craniofacial malformations of human birth defects

Project description:Mutations in the Notch1 receptor and delta-like 3 (Dll3) ligand cause global disruptions in axial segmental patterning. Genetic interactions between members of the notch pathway have previously been shown to cause patterning defects not observed in single gene disruptions. We examined Dll3-Notch1 compound mouse mutants to screen for potential gene interactions. While mice heterozygous at either locus appeared normal, 30% of Dll3-Notch1 double heterozygous animals exhibited localized, stochastic segmental anomalies similar to human congenital vertebral defects. Unexpectedly, double heterozygous mice also displayed statistically significant decreases in mandibular height and elongated maxillary hard palate. Examination of somite-stage embryos and perinatal anatomy and histology did not reveal any organ defects, so we used microarray-based analysis of Dll3 and Notch1 mutant embryos to identify gene targets that may be involved in notch-regulated segmental or craniofacial development. Therefore, Dll3-Notch1 double heterozygous mice model human congenital scoliosis and craniofacial disorders. Keywords: genotype comparison

2007-07-01 | GSE8027 | GEO

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

Project description:Genomic disorders are characterized by the presence of flanking segmental duplications that predispose these regions to recurrent rearrangement. Based on the duplication architecture of the genome we investigated 130 regions which we hypothesized as candidates for novel genomic disorders 1. We tested 290 patients with mental retardation by BAC array CGH, identifying sixteen pathogenic rearrangements, including four patients with de novo microdeletions of 17q21.31. Using oligonucleotide arrays we refined the breakpoints of this microdeletion, defining a 478 kb critical region containing six genes that were deleted in all four cases. The breakpoints of this deletion, and of four other pathogenic rearrangements in 1q21.1, 15q13, 15q24 and 17q12 were mapped to flanking segmental duplications, suggesting that these are also sites of recurrent rearrangement. In common with the 17q21.31 deletion, these breakpoint regions are also sites of copy number polymorphism in controls, indicating that these may be inherently unstable genomic regions. Keywords: BAC comparative genomic hybridization of individuals with mental retardation and congenital anomalies

2006-08-10 | GSE5373 | GEO

Endothelial mutagenesis screen identifies genetic risk factors in the development vascular anomalies

Project description:Endothelial mutagenesis screen identifies genetic risk factors in the development vascular anomalies

| PRJNA573849 | ENA

Personalized molecularly guided treatment of patients with vascular malformations harboring PIK3CA and TEK mutation

Project description:Vascular anomalies alpelisib treatment

| PRJEB53413 | ENA