Sentences with phrase «in human phenotypes»

The reversal suggests that smaller changes in multiple genes may have been the primary driver of changes in human phenotypes, and that new models are needed to retrace the genetic steps of evolution.

It's no secret that while genome - wide association studies (GWAS) have implicated thousands of genetic loci in human phenotypes, the variants uncovered collectively explain only a fraction of the observed variance between individuals.

Not exact matches

Using advances in genomic sequencing, the human microbiome, proteomics, informatics, computing, and cell therapy technologies, HLI is building the world's most comprehensive database of human genotypes and phenotypes as a basis for a variety of commercialization opportunities to help solve aging related disease and human biological decline.

The concept of race (based on phenotype — such as the amount of melanin in the skin — this is what Chad means when he uses the word) has largely been discredited and discarded due to our recent understanding of the human genome.

After receiving her Ph.D. in immunology from the Open University, United Kingdom, where she researched the identification of transcriptional factors regulating the unique phenotype of the human blood — brain barrier, she joined the Roche Brain Shuttle program as a postdoctoral fellow.

Lorson's study, «Morpholino antisense oligonucleotides targeting intronic repressor Element1 improve phenotype in SMA mouse models,» was published in September 2014 in the Journal of Human Molecular Genetics.

I combine fundamental research on the genetics of human appearance with applied research such as forensic DNA phenotyping, which is using the prediction of appearance from DNA as a tool in police investigations.

«If you see consistent phenotypes in different models, the things that are happening are probably important,» says Guo - li Ming of Johns Hopkins University School of Medicine in Baltimore, Maryland, who led the earlier studies of Zika in human neural progenitor cells.

Careful attention to phenotyping diseases, facilitated by our knowledge of the human genome and computational analysis, has allowed observant physicians and physician - scientists to identify and categorize diseases in a manner that has informed basic science, given it new contexts, and in many instances provided important new directions for investigation.

«If human organs on chips can be shown to be robust and consistently recapitulate complex human organ physiology and disease phenotypes in unrelated laboratories around the world, as suggested by early proof - of - concept studies, then we will see them progressively replace one animal model at a time.

In addition, cohousing coprophagic mice harboring transplanted microbiota from discordant pairs provides an opportunity to determine which bacterial taxa invade the gut communities of cage mates, how invasion correlates with host phenotypes, and how invasion and microbial niche are affected by human diets.

«We speculate that their identification in our analysis suggests that sun exposure may have shaped Neanderthal phenotypes and that gene flow into modern humans continues to contribute to variation in these traits today.»

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.

Although studying genetic diversity in African populations tells us a great deal about human history, there is even more to learn by juxtaposing the genetic diversity with the diversity of heritable traits (phenotypes).

«One big problem we have is that tens of thousands of human genome variants and phenotypes are spread throughout a number of databases, each one with their own organization and nomenclature that aren't easily accessible,» said Julia Wang, an M.D. / Ph.D. candidate in the Medical Scientist Training Program at Baylor and a McNair Student Scholar in the Bellen lab, as well as first author on the publication.

Dartmouth researchers developed a new biological pathway - based computational model, called the Pathway - based Human Phenotype Network (PHPN), to identify underlying genetic connections between different diseases as reported in BioDataMining this week.

In stark contrast to contemporary human influenza H1N1 viruses, the 1918 pandemic virus had the ability to replicate in the absence of trypsin, caused death in mice and embryonated chicken eggs, and displayed a high - growth phenotype in human bronchial epithelial cellIn stark contrast to contemporary human influenza H1N1 viruses, the 1918 pandemic virus had the ability to replicate in the absence of trypsin, caused death in mice and embryonated chicken eggs, and displayed a high - growth phenotype in human bronchial epithelial cellin the absence of trypsin, caused death in mice and embryonated chicken eggs, and displayed a high - growth phenotype in human bronchial epithelial cellin mice and embryonated chicken eggs, and displayed a high - growth phenotype in human bronchial epithelial cellin human bronchial epithelial cells.

Functional changes of the retina were found in three mouse models of human CNS diseases whose phenotype, age of onset and pathological mechanism clearly differ from each other.

He is also a specialist in the areas of Human Evolutionary Genomics, Genotype / Phenotype Architecture, and Computational Biology.

«As the Baylor - Johns Hopkins Center for Mendelian Genomics enters year three of our four year grant, we have found new learning opportunities with each phenotype,» said Shalini Jhangiani, senior project manager in the Human Genome Sequencing Center and a co-author on the study.

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

These findings in murine muscle, coupled with a significant association between a SNP in exon 3 of the IL15RA gene and human endurance athletes, support our hypothesis whereby IL - 15Rα has a role in defining the phenotype of fast skeletal muscles.

Rho - kinase inhibitor Y - 27632 and hypoxia synergistically enhance chondrocytic phenotype and change the S100 protein profile in human chondrosarcoma cells

Although the current study demonstrates that loss of IL - 15Rα promotes this phenotype, future studies are needed to determine the roles of specific IL - 15Rα isoforms in muscle, as well as the associations of additional IL15RA polymorphisms in muscle phenotypes in humans.

SNPs in the human IL15 and IL15RA genes have been associated with muscle phenotypes (16), muscle responses to resistance training (17), metabolic syndrome (16), and obesity (18 — 20), providing additional rationale to support a role for these molecules in muscle.

The interaction between the human host and microbes reflects a unique exposure that not only can lead directly to disease expression, but also can lead to changes in human host phenotype that is not directly pathogenic.

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.

A total of 22 mouse mutant lines can be characterised through a broad based primary phenotyping pipeline in all the major adult organ systems and most areas of major human disease.

Investigating mouse models for biological for research The congress aims to promote the International Mouse Phenotyping Consortium (IMPC) mouse lines, importance of mouse phenotyping & clinical and drug discovery collaboration, to present progresses performed by IMPC with regards CRISPR editing genome, rare diseases, microbiota and ageing pipeline, as well as illustration of examples of scientific projects about «Animal models for human diseases» and recent developments in mouse models phenotypiPhenotyping Consortium (IMPC) mouse lines, importance of mouse phenotyping & clinical and drug discovery collaboration, to present progresses performed by IMPC with regards CRISPR editing genome, rare diseases, microbiota and ageing pipeline, as well as illustration of examples of scientific projects about «Animal models for human diseases» and recent developments in mouse models phenotypiphenotyping & clinical and drug discovery collaboration, to present progresses performed by IMPC with regards CRISPR editing genome, rare diseases, microbiota and ageing pipeline, as well as illustration of examples of scientific projects about «Animal models for human diseases» and recent developments in mouse models phenotypingphenotyping imaging.

In this study, we investigated how RASSF1A inactivation conferred invasive phenotypes to human bronchial cells.

Harmonising ontological descriptions of phenotype in mouse and human and improving links between mouse model data and human data, using diabetes and obesity as examples, will increase the relevance of data that is generated in mouse studies for clinical studies.

After their initial in vitro testing, therapeutic proofs of concept must be tested in a living model that recapitulates as closely as possible both the phenotype and biological defects associated to the human disease.

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).

We recently reported that CD8 (+) T cells responding to innate - like IL - 12 + IL - 18 stimulation and co-expressing the transcription factor Eomesodermin (Eomes) and KIR / NKG2A membrane receptors with a memory / EMRA phenotype may represent a new, functionally distinct innate T cell subset in humans.

«This agreement is a part of deCODE's ongoing strategy to unleash the value of human genetics,» said Kari Stefansson, founder and CEO of deCODE, «our research platform allows us to understand the genetic basis of disease and modifiers of clinical phenotypes in actual patient populations; by doing so, we can rapidly move from targets to patient stratification and from there to companion diagnostics.»

His research interests involve pharmacogenomics for hemoglobinopathies and neuropsychiatric disorders, transcriptional regulation of human fetal globin genes and genotype - phenotype correlation in human genetic disorders.

Employing a combination of cellular, biochemical and genetic experiments, we showed that (i) human and murine pericytes express functional Tie2 receptor, (ii) Tie2 - silenced pericytes have a pro-migratory phenotype, (iii) Tie2 downstream signalling in pericytes involves Calpain, Akt and FOXO3A, (iv) Ng2 - Cre - driven deletion of pericyte - expressed Tie2 delays developmental angiogenesis and vessel maturation, and (v) Tie2 deletion in pericytes results in a pro-angiogenic tumour vasculature with enhanced tumour growth.

Human Tracheobronchial Basal Cells: Normal Versus Remodeling / Repairing Phenotypes in vivo and in vitro.

Cytokine modulation of TH1 / TH2 phenotype differentiation in directly alloresponsive CD4 + human T cells.

Using advances in genomic sequencing, the human microbiome, proteomics, informatics, computing, and cell therapy technologies, HLI is building the world's most comprehensive database of human genotypes and phenotypes as a basis for a variety of commercialization opportunities to help solve aging related disease and human biological decline.

Interaction of human mesenchymal stem cells with cells involved in alloantigen - specific immune response favors the differentiation of CD4 + T - cell subsets expressing a regulatory / suppressive phenotype.

There has been a rapidly increasing interest in whether environmental factors modulate the establishment and maintenance of epigenetic modifications, and thereby affect gene expression and phenotype in humans and wildlife.

Health improvement (allowing to post - pone / escape the diseases and thus live, healthier / disease - free longer, but not above human MLSP of around 122 years; thus these therapies do not affect epigenetic aging whatsoever, they are degenerative aging problems not regular healthy aging problem (except OncoSENS - only when you Already Have Cancer - which cancer increases epigenetic aging, but cancer removal thus does not change anything / makes no difference about what happens in the other cells / about what happens in the normal epigenetic «aging» course in Normal non-cancerous healthy cells) Although there is not such thing as «healthy aging» all aging in «unhealthy» (as seen from elders who are «healthy enough» who show much damage), it's just «tolerable / liveable» enough (in terms of damage accumulating) that it does not affect their quality of life (enough yet), that is «healthy aging»: ApoptoSENS - Clearing Senescent Cells (this will have great impact to reduce diseases, the largest one, since it's all inflammation fueled by the inflammation secretory phenotype (SASP) of these senescent cells) AmyloSENS - Dissolving the Plaques (this will allow humans to evade Alzheimer's, Parkinsons and general brain degenerescence, allowing quite a boost; making people much more easily reach the big 100 - since the brain is causal to how long we live; keeping brain amyloid - free and keeping our memories / neuron sharp / means longer LongTerm Potentiation - means longer brain function means longer heavy brain mass (gray matter / white matter retention seen in «sharp - witted» Centenarians who show are younger brain for their age), and both are correlated to MLSP).

Mouse mutant lines can be tested through a broad based primary phenotyping pipeline in all the major adult organ systems and most areas of major human disease.

The TNF family molecules LIGHT and lymphotoxin ab induce a distinct steroid - resistant inflammatory phenotype in human lung epithelial cells.

For such study, we have used the McGill - R - Thy1 - APP transgenic rat, which is unique compared to other rodent models in that the AD - like phenotype has been achieved with a single genomic insertion of a mutated human APP transgene; minimizing off - target genetic corruption and therefore being closer to the human disease [32].

This talk will address new methods for mapping genotypes to phenotypes and illustrate the power of these methods for studying insulin resistance in humans.

She is interested in using and developing statistical methods to understand the genetic architecture of human phenotypes and diseases.

You could probably find the same range of phenotypes amongst modern humans in any average town today.

The congress aims to promote the International Mouse Phenotyping Consortium (IMPC) mouse lines, importance of mouse phenotyping & clinical and drug discovery collaboration, to present progresses performed by IMPC with regards CRISPR editing genome, rare diseases, microbiota and ageing pipeline, as well as illustration of examples of scientific projects about «Animal models for human diseases» and recent developments in mouse models phenotypiPhenotyping Consortium (IMPC) mouse lines, importance of mouse phenotyping & clinical and drug discovery collaboration, to present progresses performed by IMPC with regards CRISPR editing genome, rare diseases, microbiota and ageing pipeline, as well as illustration of examples of scientific projects about «Animal models for human diseases» and recent developments in mouse models phenotypiphenotyping & clinical and drug discovery collaboration, to present progresses performed by IMPC with regards CRISPR editing genome, rare diseases, microbiota and ageing pipeline, as well as illustration of examples of scientific projects about «Animal models for human diseases» and recent developments in mouse models phenotypingphenotyping imaging.