Sentences with phrase «of human phenotypes»

During her graduate studies she investigated the contribution of gene duplication to the origin and evolution of human phenotypes.

Since gene discovery is only the very first step towards the understanding of human phenotypes we have much ground to cover.

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

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.

Any student of human biology can tell you that the default phenotype of humans is female.

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.

DNA phenotyping uses genes from human remains to give police an idea of what an unknown person looked like.

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.

Long - term neural and physiological phenotyping of a single human.

Much of the work will therefore demand comparative analyses of the genomes and phenotypes of large numbers of humans and apes.

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.

The matching of human and rodent phenotypes — observable characteristics — to find human mutations was a novel idea among hair researchers.

Like the human genome, the zebrafish genome has two copies of each gene, and scientists can remove the function of multiple genes to produce phenotypes that are reminiscent of human symptoms.

Dr. Islam's discovery was published [S. Islam, T. E. Carey, G. T. Wolf, M. J. Wheelock, and K. J. Johnson, «Expression of N - Cadherin by human squamous carcinoma cells induces a scattered fibroblastic phenotype with disrupted cell - cell adhesion,» J. Cell Biol.

«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.

Most experiments with human stem cells have only shown that the cells can acquire the phenotype of various differentiated cell types, but have not shown that the cells are functional at the transplantation site.

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.

MARRVEL displays information from OMIM, ExAC, ClinVar, Geno2MP, DGV, and DECIPHER, all separate databases to which researchers across the globe have contributed, sharing tens of thousands of human genome variants and phenotypes.

«Red hair is the first visible human trait, or phenotype, that is linked to anaesthetic requirement,» says anaesthesiologist Edwin Liem, who conducted the research at the Outcomes Research Institute of the University of Louisville, US.

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 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.

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.

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.

The IMI could also control and organize access to metadata (the associated host disease phenotype data, for a human gut microbiota sample, for instance) without which meaningful interpretation of the data is not possible.

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.

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).

During its Preparatory Phase, INFRAFRONTIER aimed at resolving the major issues required for implementing a sustainable INFRAFRONTIER Research Infrastructure for systemic phenotyping, archiving and distribution of mouse models of human diseases:

«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.»

Capacity building to meet the increasing demand of the biomedical research community for systemic phenotyping, archiving and distribution of mouse models of human diseases.

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.

Palmitate and oleate have distinct effects on the inflammatory phenotype of human endothelial cells.

Effects of oxygen on human chondrocyte zonal phenotype.

The impact of Ex Vivo clinical grade activation protocols on human T - cell phenotype and function for the generation of genetically modified cells for adoptive cell transfer therapy.

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.

Here, Kate presents her work on that show that culture of human ES cells on human recombinant laminin - 521 and laminin - 111 substrates significantly improve hepatocyte differentiation, maturation, function and stabilization of phenotype compared to Matrigel cultured cells.

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.