9c5310b1-2524-4edf-af23-f3f2a613cd25 - samples
Ontology highlight
ABSTRACT:
PROVIDER: EGAD00001011373 | EGA |
REPOSITORIES: EGA
Similar Datasets
Project description:To identify the consequences of mechanical stress of differentiated cardiac muscles from healthy- and PPCM individuals. RNA-sequencing data was obtained from 4 individuals from 2 families. Each family had one member with PPCM and one healthy. Individual 1 and 2 were sisters, one healthy, one with PPCM. Individual 3 and 4 were a healthy mother and PPCM daughter. From each patient 4, 6, 1 and 3 clones were derived, respectively. From each clone multiple pairs of cells were collected and either stretched or left static to a total of 40 pairs, with 2 unpaired static samples.
2020-12-08 | E-MTAB-9053 | biostudies-arrayexpress
Project description:Interventions: The aim of this research is to find the undiscovered gene or genes responsible for hereditary colorectal cancer, and to understand how the gene(s) cause colorectal cancer. One of the best approaches used to find the answers to these questions is to study families where there are several family members affected with colorectal cancer.
Case probands and their relatives (affected and unaffected) will be recruited
(20 ml) of blood will be obtained on one occasion from each participant
Where tissues from affected family members have already been obtained (paraffin embedded tumour tissue in blocks) we will seek permission to access this material for DNA extraction. The duration of study will be approximately 48 months.
Primary outcome(s): To identify molecular markers of potential value in understanding predisposition to CRC by their association with gene variants that increase the risk of CRC.
The study will be a family based analysis of SNP genotypes for cases and controls within families and between families. Transmission of disease associated SNPs will be assessed to determine within-family association and linkage and then to calculate across-family associations.[2-3 blood samples per week over 36 months approx]
Study Design: Purpose: Natural history;Duration: Cross-sectional;Selection: Defined population;Timing: Both
| 2452082 | ecrin-mdr-crc
Project description:We describe a multiple de novo CNV (MdnCNV) phenomenon in which individuals with genomic disorders carry five to ten constitutional de novo CNVs. Five such families are studied, which consists of four trios and one singleton. Various array platforms are used to interogate these families to identify de novo CNVs.
2016-10-14 | GSE87838 | GEO
Project description:We describe a multiple de novo CNV (MdnCNV) phenomenon in which individuals with genomic disorders carry five to ten constitutional de novo CNVs. Five such families are studied, which consists of four trios and one singleton. Various array platforms are used to interogate these families to identify de novo CNVs.
2016-10-14 | GSE87802 | GEO
Project description:We describe a multiple de novo CNV (MdnCNV) phenomenon in which individuals with genomic disorders carry five to ten constitutional de novo CNVs. Five such families are studied, which consists of four trios and one singleton. Various array platforms are used to interogate these families to identify de novo CNVs.
2016-10-14 | GSE87913 | GEO
Project description:We describe a multiple de novo CNV (MdnCNV) phenomenon in which individuals with genomic disorders carry five to ten constitutional de novo CNVs. Five such families are studied, which consists of four trios and one singleton. Various array platforms are used to interogate these families to identify de novo CNVs.
2016-10-14 | GSE87909 | GEO
Project description:In budding yeast, damaged organelles and biomolecules are symmetrically segregated between mother and daughter cells, which can influence the replicating aging of mother cells. In some cases, older proteins are prone to be damaged and decline in their functions compared to newly synthesized proteins, likely to contribute the cellular aging. The purpose of this analysis is to uncover asymmetrically inherited older proteins, which are preferentially retained in mother cells during division into mother and rejuvenating daughter cells. To achieve this purpose, we conducted an originally developed strategy where mother and daughter cells are separated after just one cycle of synchronized culture, during which newly synthesized proteins are labeled with stable isotope amino acid. Synchronized culture was carried out using virgin cells, which have never produce daughter cells and enriched in G1 phase. We successfully identified more than 20 proteins whose older forms are asymmetrically inherited by mother cells, among which are proteins involved in the intracellular homeostasis of the proton concentration and the response to the stress of misfolded proteins.
2017-10-08 | PXD005115 | JPOST Repository
Project description:The study includes WGS data for DNA extracted from blood, fibroblasts or buccal swabs from sixteen family members, who represent four sub-families, each including two parents and one to three children, comprising a total of eight offspring. In two sub-families POLD1 L474P was carried by the father; in one sub-family, by the mother; and in the other sub-family, both parents had wild-type POLD1.
| EGAD00001009282 | EGA
Project description:In budding yeast, damaged organelles and biomolecules are symmetrically segregated between mother and daughter cells, which can influence the replicating aging of mother cells. In some cases, older proteins are prone to be damaged and decline in their functions compared to newly synthesized proteins, likely to contribute the cellular aging. The purpose of this analysis is to uncover asymmetrically inherited older proteins, which are preferentially retained in mother cells during division into mother and rejuvenating daughter cells. To achieve this purpose, we conducted an originally developed strategy where mother and daughter cells are separated after just one cycle of synchronized culture, during which newly synthesized proteins are labeled with stable isotope amino acid. Synchronized culture was carried out using mating pheromone, which arrest the budding yeast in G1 phase. We successfully identified more than 20 proteins whose older forms are asymmetrically inherited by mother cells, among which are proteins involved in the intracellular homeostasis of the proton concentration and the response to the stress of misfolded proteins.
2017-10-08 | PXD005114 | JPOST Repository
Project description:Kuepfer2005 - Genome-scale metabolic network
of Saccharomyces cerevisiae (iLL672)
This model is described in the article:
Metabolic functions of
duplicate genes in Saccharomyces cerevisiae.
Kuepfer L, Sauer U, Blank LM.
Genome Res. 2005 Oct; 15(10):
1421-1430
Abstract:
The roles of duplicate genes and their contribution to the
phenomenon of enzyme dispensability are a central issue in
molecular and genome evolution. A comprehensive classification
of the mechanisms that may have led to their preservation,
however, is currently lacking. In a systems biology approach,
we classify here back-up, regulatory, and gene dosage functions
for the 105 duplicate gene families of Saccharomyces cerevisiae
metabolism. The key tool was the reconciled genome-scale
metabolic model iLL672, which was based on the older iFF708.
Computational predictions of all metabolic gene knockouts were
validated with the experimentally determined phenotypes of the
entire singleton yeast library of 4658 mutants under five
environmental conditions. iLL672 correctly identified 96%-98%
and 73%-80% of the viable and lethal singleton phenotypes,
respectively. Functional roles for each duplicate family were
identified by integrating the iLL672-predicted in silico
duplicate knockout phenotypes, genome-scale carbon-flux
distributions, singleton mutant phenotypes, and network
topology analysis. The results provide no evidence for a
particular dominant function that maintains duplicate genes in
the genome. In particular, the back-up function is not favored
by evolutionary selection because duplicates do not occur more
frequently in essential reactions than singleton genes. Instead
of a prevailing role, multigene-encoded enzymes cover different
functions. Thus, at least for metabolism, persistence of the
paralog fraction in the genome can be better explained with an
array of different, often overlapping functional roles.
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2015-07-30 | MODEL1507180066 | BioModels