Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Genome Characterization of 9p- Syndrome

ABSTRACT: Genome Characterization of 9p- Syndrome

PROVIDER: PRJNA642186 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
		Other

Items per page:

1 - 1 of 1

Similar Datasets

Genome Characterization of 9p- Syndrome

Project description:Genome Characterization of 9p- Syndrome

| PRJNA642187 | ENA

Characterization of Richter Syndrome cell line U-RT1

Project description:Characterization of Richter Syndrome cell line U-RT1

| PRJNA719790 | ENA

Proteomic and genomic characterization of a yeast model for Ogden syndrome [microarray]

Project description:Gene expression microarrays accompanying "Proteomic and genomic characterization of a yeast model for Ogden syndrome" by Doerfel et al 2016 in press at Yeast. Naa10 is a Na-terminal acetyltransferase that, in a complex with its auxiliary subunit Naa15, co-translationally acetylates the a-amino group of newly synthetized proteins as they emerge from the ribosome. Roughly 40-50% of the human proteome is acetylated by Naa10, rendering this an enzyme with one of the most broad substrate ranges known. Recently, we reported an X-linked disorder of infancy, Ogden syndrome, in two families harboring a c.109T>C (p.Ser37Pro) variant in NAA10. In the present study we performed in-depth characterization of a yeast model of Ogden syndrome. Stress tests and proteomic analyses suggest that the S37P mutation disrupts Naa10 function and reduces cellular fitness during heat shock, possibly due to dysregulation of chaperone expression and accumulation. Microarray and RNA-seq revealed a pseudo-diploid gene expression profile in DNaa10 cells, likely responsible for a mating defect. In conclusion, the data presented here further support the disruptive nature of the S37P/Ogden mutation and identify affected cellular processes potentially contributing to the severe phenotype seen in Ogden syndrome.

2016-09-03 | GSE86358 | GEO

Kindler syndrome microarray study

Project description:Characterization of gene expression profile of normal human and Kindler Syndrome (KS) patients skin biopsies samples, to extend the knowledge of transcriptional changes in the Kindler syndrome disease. For this micro array three age-, site - and sex-matched biopsies form control and Kindler Syndrome patients were analyzed.

2013-12-01 | E-GEOD-47642 | biostudies-arrayexpress

Kindler syndrome microarray study

2013-12-01 | GSE47642 | GEO

Project description:This SuperSeries is composed of the following subset Series: GSE41751: Correlated alterations in genome organization, histone methylation, and DNA-lamina interactions in Hutchinson-Gilford progeria syndrome (expression) GSE41757: Correlated alterations in genome organization, histone methylation, and DNA-lamina interactions in Hutchinson-Gilford progeria syndrome (ChIP-seq) GSE41763: Correlated alterations in genome organization, histone methylation, and DNA-lamina interactions in Hutchinson-Gilford progeria syndrome (Hi-C) Refer to individual Series

2012-10-30 | E-GEOD-41764 | biostudies-arrayexpress

Brazilian Myrtaceae genome characterization

Project description:Brazilian Myrtaceae genome characterization

| PRJNA549455 | ENA

The intestinal microecology changes and metabonomics-based prognostic biomarkers screening in advanced colorectal cancer patients with qi deficiency syndrome

Project description:Interventions: Group1:Qi deficiency syndrome quantitative score>8;Group 2:Yin deficiency syndrome quantitative score>10;Group 3:deficiency syndrome quantitative score<3 with no obvious excess syndrome Primary outcome(s): serum metabonomics;Intestinal flora genome Study Design: Cohort study

| 2668041 | ecrin-mdr-crc

Mechanistic characterization of a Drosophila model of paraneoplastic nephrotic syndrome

Project description:Mechanistic characterization of a Drosophila model of paraneoplastic nephrotic syndrome

| PRJNA1055103 | ENA

Discovery and Characterization of Genetic Risk Loci in Sjogren's syndrome

Project description:Discovery and Characterization of Genetic Risk Loci in Sjogren's syndrome

| PRJNA786688 | ENA