Search results for "genetics [CREB-Binding Protein]"
showing 10 items of 55 documents
Addressing the gap between genetics knowledge and clinical practice: a pilot study to implement genetics education among physicians in Italy
2012
As a result of large investments in basic science, the genomic discoveries have brought outstanding advances in understanding the molecular basis of human health. Hundreds of genes whose variations contribute to human diseases, or patients’ responses to drug treatments or even to vaccination have been discovered, laying the foundation for a paradigm shift in healthcare...
data for: Northern European Salmo trutta (L.) populations are genetically divergent across geographical regions and environmental gradients.
2019
SNP genotype data used in: Bekkevold, D. , Höjesjö, J. , Nielsen, E. E., Aldvén, D. , Als, T. D., Sodeland, M. , Kent, M. P., Lien, S. and Hansen, M. M. (2019), Northern European Salmo trutta (L.) populations are genetically divergent across geographical regions and environmental gradients. Evol Appl. doi:10.1111/eva.12877.The file is a comma-separated text file, where each row gives a list of 3782 genotypes; one row per individual (2090 total). Each individual is denoted by its collection ID, given as a 'River number' following Table 1 in Bekkevold et al. (doi:10.1111/eva.12877), followed by an underscore (_), followed by 'Individual number'. Individual SNP locus names are given in the top…
Supplemental Table 1. Spearman rank order correlations between individual analysis methods. Significant (p<0.05) coefficients (rs) are indicated i…
2019
Supplemental Table 1. Spearman rank order correlations between individual analysis methods. Significant (p<0.05) coefficients (rs) are indicated in bold. Supplemental Table 2. Impact of amount of starting DNA on telomere lengths (n=3) calculated using 4 different analysis methods and applying 2 different equations.
Supplemental Figure 1 Southern blot images of telomere profiles for (A) 15 human cell lines and (B) 3 peripheral blood samples. A total of 2.0 g of …
2022
Supplemental Figure 1 Southern blot images of telomere profiles for (A) 15 human cell lines and (B) 3 peripheral blood samples. A total of 2.0 g of DNA was loaded for each cell line in (A), and 1.0, 1.5, 2.0 and 2.5 g of DNA, as indicated above each lane, for peripheral blood (PB) samples in (B). bp=base pairs
178 – Promoter region of foxp2 gene: epigenetic and evolutionary analysis
2008
Methyl-CpG-binding proteins
2000
CpG methylation, the most common epigenetic modification of vertebrate genomes, is primarily associated with transcriptional repression. MeCP2, MBD1, MBD2, MBD3 and MBD4 constitute a family of vertebrate proteins that share the methyl-CpG-binding domain (MBD). The MBD, consisting of about 70 residues, possesses a unique alpha/beta-sandwich structure with characteristic loops, and is able to bind single methylated CpG pairs as a monomer. All MBDs except MBD4, an endonuclease that forms a complex with the DNA mismatch-repair protein MLH1, form complexes with histone deacetylase. It has been established that MeCP2, MBD1 and MBD2 are involved in histone deacetylase-dependent repression and it i…
Centromeric enrichment of LINE-1 retrotransposon in two species of South American monkeys Alouatta belzebul and Ateles nancymaae (Platyrrhini, Primat…
2022
LINE-1 sequences have been linked to genome evolution, plasticity and speciation; however, despite their importance, their chromosomal distribution is poorly known in primates. In this perspective, we used fluorescence in situ hybridization (FISH) to map LINE-1 probes onto two representative platyrrhine species, Aotus nancymaae (Cebidae) and Alouatta belzebul (Atelidae), both characterized with highly rearranged karyotypes, in order to investigate their chromosomal distribution and role and to better characterize the two genomes. We found centromeric enrichment of LINE-1 sequences on all biarmed and acrocentric chromosomes co-localized with heterochromatin C-positive bands. This distributio…
openSNP–A Crowdsourced Web Resource for Personal Genomics
2014
Genome-Wide Association Studies are widely used to correlate phenotypic traits with genetic variants. These studies usually compare the genetic variation between two groups to single out certain Single Nucleotide Polymorphisms (SNPs) that are linked to a phenotypic variation in one of the groups. However, it is necessary to have a large enough sample size to find statistically significant correlations. Direct-To-Consumer (DTC) genetic testing can supply additional data: DTC-companies offer the analysis of a large amount of SNPs for an individual at low cost without the need to consult a physician or geneticist. Over 100,000 people have already been genotyped through Direct-To-Consumer genet…
Interventions to Slow Aging in Humans: Are We Ready?
2015
The workshop entitled 'Interventions to Slow Aging in Humans: Are We Ready?' was held in Erice, Italy, on October 8-13, 2013, to bring together leading experts in the biology and genetics of aging and obtain a consensus related to the discovery and development of safe interventions to slow aging and increase healthy lifespan in humans. There was consensus that there is sufficient evidence that aging interventions will delay and prevent disease onset for many chronic conditions of adult and old age. Essential pathways have been identified, and behavioral, dietary, and pharmacologic approaches have emerged. Although many gene targets and drugs were discussed and there was not complete consens…
Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data
2019
Crohn Disease (CD) is a complex genetic disorder for which more than 140 genes have been identified using genome wide association studies (GWAS). However, the genetic architecture of the trait remains largely unknown. The recent development of machine learning (ML) approaches incited us to apply them to classify healthy and diseased people according to their genomic information. The Immunochip dataset containing 18,227 CD patients and 34,050 healthy controls enrolled and genotyped by the international Inflammatory Bowel Disease genetic consortium (IIBDGC) has been re-analyzed using a set of ML methods: penalized logistic regression (LR), gradient boosted trees (GBT) and artificial neural ne…