Sentences with phrase «phenotypes including»

Other members of the ALDH superfamily have been associated with other clinical phenotypes including alcohol - induced flushing.

A phenotype includes biological information about appearance, behavior and other measurable physical and biochemical characteristics.

Shared behavioural phenotypes include autistic traits, hand - flapping, rocking, aggressive behaviour and sleep disturbance.

The clinical phenotype includes; intellectual disability (ID), growth retardation, facial dysmorphism, and cardiac malformations.

Not exact matches

Science has long regarded sexual orientation — and that's all sexual orientations, including heterosexuality — as a phenotype.

Science has long regarded $ exual orientation — and that's all $ exual orientations including the most common, hetero $ exuality — as a phenotype.

He stares at you with a smirk that shouts I bet you need a Sat Nav and who's hobbies include racial phenotype classification.

They processed data relating to genetics, including DNA sequences, and to gene expression, as well as epigenetic features — chemical reactions that influence genome functioning and hence phenotype by activating and deactivating genes.

These include observable characteristics — phenotypes — and genetic factors that may influence drug efficacy.

Monitoring immune cell activity — including phenotyping immune cell subsets, tracking cell proliferation, and measuring cytokine production — can provide insights into the overall status of immune function in patients, particularly those undergoing immunosuppression after transplants, enduring cancer treatment, or suffering from autoimmune disease or other pathologies that affect the immune system.

Domain recombination also led to changes in mating phenotype, including recombinants with increased mating efficiency over the wild type.

First author Antonio Di Meco and colleagues used a triple transgenic (3xTg) mouse model that displays an AD - like phenotype, including cognitive decline, and Aβ and tau neuropathology characteristic of the disease in humans.

These BR - dependent phenotypes therefore represent two potential avenues for enhancing grain production in millets, including subsistence crops in many developing countries that remain largely untapped for genetic improvement.

Bioinformatic approaches to the analysis of genetic variability and complex genotype - phenotype relationships will moreover include gene sequence and database analyses, measures of association of haplotypes / genotypes with phenotype, clustering procedures, neuronal networks, fuzzy and other techniques in pattern recognition, similarity measures for discrete patterns (e.g., gene sequences, structures, functions), logistic regression methods, and a spectrum of other techniques.

We do studies to understand the exact relationship between genotype and phenotype in both animal models and in human subjects including twins.

In S. cerevisiae, strains aneuploid for different chromosomes all share several common phenotypes, including temperature sensitivity [8].

Quantitative analyses of multiple cardiac phenotypes demonstrated essential structural, functional and developmental roles for these genes, including a subgroup encoding histone H3K4 modifying proteins.

Phenotypes of interest include taste perception, food preferences and obesity.

These generic responses define intermediate phenotypes that comprise to varying extents all basic pathobiologies and include inflammation, thrombosis and hemorrhage, fibrosis, the immune response, proliferation, and apoptosis / necrosis (Figure 1).

His research interests are largely focused upon elucidating the mechanisms of mutagenesis underlying human genetic disease, but include genotype — phenotype relationships in various inherited conditions, as well as human evolutionary and population genetics.

All significant phenotypes listed here were assessed using the DSQ and only include ME / CFS individuals

The Mouse Pipelines team is responsible for delivering the large - scale projects under its responsibility, including the Sanger Mouse Genetics Project, the National Institutes of Health KOMP2 production and phenotyping, the EUCOMMTools, and the Infrafrontier projects.

In order to dissect these defects, we utilize a unique approach including deep assessment of patient phenotype, clinical genetic testing to identify underlying genetic contributions to these features, and the application of combinatorial functional omics (transcriptome, metabolome, etc.) to uncover the pathological cellular states that result from these genetic changes.

These include cell sorting and analytical flow cytometry to phenotype, quantify and isolate cells and confocal microscopy to capture high resolution images.p

Clinical phenotyping of participants includes standardized diagnostic schedules and symptom scales.

Coupled with the dog domestication bottleneck, this likely simplified the genetic architecture of quantitative traits, including complex disease phenotypes that are not fixed within breeds and were not the subject of selection for novelty.

We report a variety of biallelic effects on organismal phenotype attributable to combinations of recessive Xpd alleles, including the following: (i) the ability of homozygous lethal Xpd alleles to ameliorate a variety of disease symptoms when their essential basal transcription function is supplied by a different disease - causing allele, (ii) differential developmental and tissue - specific functions of distinct Xpd allele products, and (iii) interallelic complementation, a phenomenon rarely reported at clinically relevant loci in mammals.

Secondly, highlighting the potential relevance of current findings to all diploid organisms including humans was the observation that in one compound heterozygous animal, the Xpd allelic relationship could shift from Adominant arecessive to Arecessive adominant with respect to different phenotypes in a time - dependent and tissue - specific manner (see below and Table 2).

Masters et al. discuss the often overlooked contribution of the stromal microenvironment as an extrinsic factor to immunosenescence and inflammation.12 Accumulation of senescent stromal cells which demonstrate the senescent associated secretory phenotype (SAPS), may alter tissue structure and function, and increase local inflammation.13 The impact of altered lymphoid stromal microenvironment may be widespread and include altered haematopoiesis, reduced lymphatic flow and disrupted secondary lymphoid organisation, which consequently will alter antigen transportation and presentation to T cells.12

Examples include phytoestrogens and heavy metals, both of which can have real and measurable effects on the animal's phenotype.

Additional Services (back to top) Phenotypic characterization of ethanol exposure: The Animal / Cell Core will also provide basic phenotyping measures including ALT / AST, triglyceride concentrations, Oil Red O, Sirius red staining, hydroxyproline concentration, blood ethanol and CYP2E1 expression or activity on a fee for service basis for all NOAC investigators.

Other factors will also impact the evolution of adhesion phenotypes, including the relative advantage of highly - adhesive cells against less - adhesive cells in direct competition [54], and the trade - off between competitive surface adhesion and the ability to disperse to new habitats for later growth [38, 40, 83].

We are interested in exploring how genetic variation influences intermediate and higher - level phenotypes, including risk for disease.

Current explorations into the molecular underpinnings of cell circuitry are leveraging multiple data types including expression profiling and epigenetic analysis leveraging RNA - seq and CHiP - Seq coupled with molecular markers and cellular phenotypes.

These analyses demonstrated very unique and specific features of the susceptible versus control mice, which include a hypoactive and anxious phenotype with reduced mobility, rearing, digging and sniffing as well as increased freezing and exploratory stretching behavior.

Critical issues include: (i) heterogeneity in stem cell populations (ii) regulation of cell fate choices; (iii) declining tissue performance with age and exposure to environmental injuries; (iv) the use of iPS and Embryonic Stem (ES) cells, and reprogramming methods for phenotyping disease states and potential use of these stem cells in the clinic.

These phenotypes represent two potential avenues for enhancing grain production in millets, including orphan crops that provide subsistence in developing countries and remain largely unimproved.

Summary: A two day meeting to review current IMPC progress and discuss future developments such as CRISPR - Cas9 implementation and a mouse ageing pipeline, including several Infrafrontier IPAD - MD sponsored expert group meetings on specific areas of mouse phenotyping Attended by: IMPC members, funders, corporate sponsors, IMPC Panel of Scientific Consultants & invited external researchers Hosted / funded by: Korea Mouse Phenotyping Consortium / Inphenotyping Attended by: IMPC members, funders, corporate sponsors, IMPC Panel of Scientific Consultants & invited external researchers Hosted / funded by: Korea Mouse Phenotyping Consortium / InPhenotyping Consortium / Infrafrontier

In the AD reversal treatment strategy described here, J147 significantly improved several different aspects of memory affected in AD, including spatial memory, a disinhibition phenotype and hippocampal dependent associative learning (Figure 1).

The Institute's phenotyping platforms are adapted for the study of mutant mice and genetic reference populations but can also be used for preclinical studies including the validation of therapeutic targets as well as pharmacological and toxicological studies in the mouse.

We have generated rich genomic datasets for the scientific community, including an expansive atlas of genetic associations with metabolites, whole - genome sequence and phenotype data for population cohorts in the UK10K project, as well as bioinformatic resources to facilitate the retrieval of information, including a metabolite network, a database of genotype - metabolite associations with our colleagues at the HelmHoltz institute, and a genome browser of UK10K association results.

Summary: A two - day meeting to review and showcase progress of the Knockout Mouse Phenotyping Programme, alongside external presentations and production, phenotyping and statistics breakout sessions Attended by: KOMP2 and IMPC members, corporate sponsors, IMPC Panel of Scientific Consultants (including KOMP2 advisory board) & the Production Technical Group Hosted / funded by: Baylor College of MedicinePhenotyping Programme, alongside external presentations and production, phenotyping and statistics breakout sessions Attended by: KOMP2 and IMPC members, corporate sponsors, IMPC Panel of Scientific Consultants (including KOMP2 advisory board) & the Production Technical Group Hosted / funded by: Baylor College of Medicinephenotyping and statistics breakout sessions Attended by: KOMP2 and IMPC members, corporate sponsors, IMPC Panel of Scientific Consultants (including KOMP2 advisory board) & the Production Technical Group Hosted / funded by: Baylor College of Medicine & NIH, USA

Summary: A two day meeting to review IMPC progress including one - day phenotyping, CRISPR, communications and embryo workshops, followed by a one - day review of the IMPC by the Panel of Scientific Consultants Attended by: IMPC members, funders and corporate sponsors, IMPC Panel of Scientific Consultants & invited external researchers Hosted / funded by: Universitat Autònoma de Barcelona

These datasets include: the actual genome sequences of the 1,011 isolates; the list of 4,940 common «core» ORFs plus 2,856 ORFs that are variable within the population (together these make up the «pangenome»); copy number variation (CNV) data; phenotyping data for 36 conditions; SNPs and indels relative to the S288C genome; and much more.

Summary: A two day meeting to demonstrate to the wider scientific community where the IMPC is trying to go and how to include clinical scientists, geneticists and the rare disease research community, followed by two simultaneous one day workshops (phenotyping and EUCOMMTOOLS) to plan for Phase II phenotyping and discuss production technology development Attended by: IMPC members, corporate sponsors, external delegates, EUCOMMTOOLS members and IKMC members Hosted / funded by: Infrafrontier, EUCOMMTOOLS, CNR Monterotondo

The adenosine A ₂ ₐ receptor is the main adenosine receptor expressed on immune cell subsets including T - cells, NK cells and dendritic cells and binding of adenosine to the A ₂ ₐ receptor on immune cells blocks the activation and effector functions of anti-tumor immune cells and promotes a regulatory, immune - suppressive phenotype.

The phenotyping platforms of PHENOMIN - ICS area, adapted to study genetically modified mouse models, can also be used for preclinical studies, including the validation of therapeutic targets, as well as pharmaceutical and toxicological studies in mice.

These include, but are not limited to, genotyping, karyotyping, speed congenics, health monitoring, microbiome analyses, and an array of phenotyping assays.

Because of the polygenic nature of hypertension, numerous rat models have been developed including selective bred homozygous hypertensive rat strains (e.g. spontaneously hypertensive rat [SHR] and Dahl salt sensitive [Dahl SS]-RRB- and outbred strains (e.g. Sprague Dawley) to elucidate the desired hypertensive phenotype.

In 2017, it will be joined by Anipath, a platform devoted to the histological analysis of small animal models including phenotyping, diagnosis of morbidity cause, in situ gene expression studies.