Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

EGAS00001000066-sc-20130205 - samples

ABSTRACT: This project aims to identify highly penetrant coding variants increasing the risk of Congenital Heart Disease (CHD) performing whole exome sequencing on DNA samples from 23 affected individuals, selected from 10 families with presumed Autosomal Recessive Inheritance. This is a collaboration with Prof. Eamonn Maher and Dr. Chirag Patel from the Department of Medical and Molecular Genetics, University of Birmingham plans to sequence 23 indexed Agilent whole exome pulldown libraries on 75Bp PE HiSeq (Illumina)

PROVIDER: EGAD00001000343 | EGA |

REPOSITORIES: EGA

ACCESS DATA

Json Xml

Similar Datasets

Congenital Heart Disease in UK Families

Project description:This project aims to identify highly penetrant coding variants increasing the risk of Congenital Heart Disease (CHD) performing whole exome sequencing on DNA samples from 23 affected individuals, selected from 10 families with presumed Autosomal Recessive Inheritance. This is a collaboration with Prof. Eamonn Maher and Dr. Chirag Patel from the Department of Medical and Molecular Genetics, University of Birmingham plans to sequence 23 indexed Agilent whole exome pulldown libraries on 75Bp PE HiSeq (Illumina).

| EGAS00001000066 | EGA

EGAS00001000064-sc-20130205 - samples

Project description:This project aims to find causal variants in 50 patients diagnosed with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD), of presumed recessive inheritance performing whole exome sequencing to ~50x mean depth. This is a collaboration with Prof A. Jackson, MRC Human Genetics Unit, Edinburgh

| EGAD00001000342 | EGA

Functional proteomics identifies acinus L as a direct insulin- and amino acid-dependent mTORC1 substrate

Project description:The serine/threonine kinase mammalian target of rapamycin (mTOR) governs growth, metabolism, and aging in response to insulin and amino acids (aa), and is often activated in metabolic disorders and cancer. Much is known about the regulatory signaling network around mTOR, but surprisingly few direct mTOR substrates have been established to date. To tackle this gap in our knowledge, we took advantage of a combined quantitative phosphoproteomic and interactomic strategy. We analyzed the insulin- and aa-responsive phosphoproteome upon inhibition of the mTOR complex 1 (mTORC1) component raptor, and analyzed in parallel the interactome of endogenous mTOR. By overlaying these two datasets, we identified acinus L as a potential novel mTORC1 target. We confirmed acinus L as a direct mTORC1 substrate by co-immunoprecipitation and MS-enhanced kinase assays. Our study delineates a triple proteomics strategy of combined phosphoproteomics, interactomics, and MS-enhanced kinase assays for the de novo-identification of mTOR network components, and provides a rich source of potential novel mTOR interactors and targets for future investigation. Additional contact details: <a href="mailto:k.thedieck@umcg.nl">Prof. Dr. Kathrin Thedieck</a> Department of Pediatrics, University of Groningen, University Medical Center Groningen (UMCG), 9713 AV Groningen, The Netherlands. Faculty VI - School of Medicine and Health Sciences, Carl von Ossietzky University Oldenburg, 26111 Oldenburg, Germany. Prof. Dr. Bettina Warscheid Faculty of Biology, Institute of Biology II, University of Freiburg, 79104 Freiburg, Germany. BIOSS Centre for Biological Signalling Studies, University of Freiburg, 79104 Freiburg, Germany.

2015-04-28 | PXD001196 | Pride

Functional proteomics identifies acinus L as a direct insulin- and amino acid-dependent mTORC1 substrate

2015-04-28 | PXD001245 | Pride

Functional proteomics identifies acinus L as a direct insulin- and amino acid-dependent mTORC1 substrate

2015-04-28 | PXD001244 | Pride

ChIP-chip by array of mouse cell lines and fresh tissues using anti-H3 trimethyl lysine 4.

Project description:Immunoprecipitations were performed using anti-H3 trimethyl lysine 4 (Millipore, 04-745 and gift from Dr. L. OM-oM->M-^RNeill, Birmingham, UK)

2010-06-09 | E-MEXP-2665 | biostudies-arrayexpress

Serum proteomic for pulmonary infection after pediatric congenital heart surgery

Project description:To explore serum proteins associated with postoperative pulmonary infection in children with CHD, a total of 98 serum samples collected from the 23 patients before and after surgery were subjected to proteomic analysis

2024-05-21 | PXD051904 | Pride

Project description:Study on the transcriptome of Vietnam cyanobacteria Spirulina platensis ST cultured at different salinity and nutrition composition supported by Senior Researcher, code NVCC 08. 04. 22-23 (Prof. Dr. Dr. Dang Diem Hong).

| PRJNA982591 | ENA

Health Information Technology (HIT) Enhanced Family History Documentation and Management in Primary Care

Project description:We evaluated whether collection of risk factors to generate an electronic health record (EHR)-linked personalized health risk appraisal (HRA) for coronary heart disease (CHD), diabetes, breast and colorectal cancer (CRC) was associated with improved patient-provider communication, risk assessment, and breast cancer screening plans in the next year.

| 2115439 | ecrin-mdr-crc

Setaria italica

Project description:leaf prof. zhangbin

| PRJNA1064025 | ENA