Sentences with phrase «gene identification in»

Nrf2 is an inhibitor of the Fas pathway as identified by Achilles» Heel Method, a new function - based approach to gene identification in human cells.

In 2014 the CNAG - CRG together with CIBERER launched a call to the Spanish research community offering free - of - charge Whole Exome Sequencing and bioinformatic analysis for disease gene identification in rare disorders.

My research interests include computational methods for analyzing tumor heterogeneity, driver gene identification in cancer, and detecting bias in biological network analyses.

Not exact matches

These genes are implicated in highly penetrant genetic disorders for which surgical or other interventions aimed at preventing or significantly reducing morbidity and mortality are available to pathogenic variant carriers.5 Identification of a pathogenic variant in one of these genes could be diagnostic of a medical condition with potential implications for an individual's medical management.

But what's really significant in the research is the identification of which genes are selectively affected by consumption of dietary fat or by capsaicin.

Identification of novel polymorphisms in the glucokinase and glucose -6-phosphatase genes in infants who died suddenly and unexpectedly

It has been estimated that 5 % to 10 % of infants who die from SIDS have novel mutations in the cardiac sodium or potassium channel genes that result in long QT syndrome as well as in other genes that regulate channel function.44 A recent report described important new molecular and functional evidence that implicates specific SCN5A (sodium channel gene) β subunits in SIDS pathogenesis.47 The identification of polymorphisms in genes pertinent to the embryologic origin of the autonomic nervous system in SIDS cases also lends support to the hypothesis that a genetic predisposition contributes to the etiology of SIDS.

In this special section of Science, expert contributors retrace the long and tortuous path leading to the mapping and identification of the BRCA1 gene; discuss the ways in which BRCA mutation status has been integrated into the clinical management of patients in high - risk families; and highlight the role of the BRCA proteins in preserving the structural and numerical integrity of chromosomes throughout the cell cycle, a function that may explain their tumor suppressor activitIn this special section of Science, expert contributors retrace the long and tortuous path leading to the mapping and identification of the BRCA1 gene; discuss the ways in which BRCA mutation status has been integrated into the clinical management of patients in high - risk families; and highlight the role of the BRCA proteins in preserving the structural and numerical integrity of chromosomes throughout the cell cycle, a function that may explain their tumor suppressor activitin which BRCA mutation status has been integrated into the clinical management of patients in high - risk families; and highlight the role of the BRCA proteins in preserving the structural and numerical integrity of chromosomes throughout the cell cycle, a function that may explain their tumor suppressor activitin high - risk families; and highlight the role of the BRCA proteins in preserving the structural and numerical integrity of chromosomes throughout the cell cycle, a function that may explain their tumor suppressor activitin preserving the structural and numerical integrity of chromosomes throughout the cell cycle, a function that may explain their tumor suppressor activity.

Last December, the same research team demonstrated blocking the expression of the gene that encodes apoC - III led to major relief of triglyceridemia in patients suffering a rare and extreme form of hypertriglyceridemia, which in turn opened the door for the identification of unexpected mechanisms that govern blood fat.

In 1991, technology was developed that permitted «shot gun» sequencing, the identification of short DNA sequences scattered virtually at random throughout the 100,000 or so genes of the human genome.

Microscopic identification of the microbiota in healthy (left) and inflamed intestine (right) using specific gene probes.

Identifying the gene defect enables the identification of those dogs used for breeding that carry the defect, which, in turn, makes it possible to effectively eradicate the disorder from the entire breed.

Much like the association between BRCA gene mutation and the risk for breast cancer in women changed the approach to treatment / prevention, the identification of the Kallikrein 6 gene region may change the course of prostate cancer care through a blood test developed by the Lunenfeld - Tanenbaum Research Institute.

Identification of the genes represents a vital step toward developing compounds that can be used in targeted, individualized treatment of severe periodontitis, before loss of teeth and supportive bone occurs.

It appears in the Proceedings of the National Academy of Science, or PNAS, article «Identification of the VERNALIZATION 4 gene reveals the origin of spring growth habit in ancient wheats from South Asia.»

Over the longer term, the identification of the coffee tree genome sequence opens up new possibilities for varietal improvement, knowledge of the specific functions of the genes (in particular those specific to coffee trees), the possibility of transferring results to other species, and refining diagnostic tools for the function of the plant.

Shaw reverses the process in a new paper, taking what he finds in humans back to the flies and gaining new insight into humans as a result: identification of a human gene that is more active after sleep deprivation.

As Finnish geneticist Leena Peltonen wrote in a recent review, «The enthusiasm regarding the use of population isolates for the identification of predisposing genes for common, polygenic diseases has turned to a silent drudgery.»

Just as the Human Genome Initiative in the 1990s sequenced human DNA for the subsequent identification and analysis of genes, so too will the Materials Genome Initiative sequence materials for identifying new properties for a variety of applications.

Identification of both the IQCB1 gene in the African black - footed cat and the NCP1 in the silver tabby will help to diagnose other cats and allow them to receive appropriate treatment.

Genetics play a strong role in risk for depression, but the identification of specific genes contributing to the disorder has eluded researchers.

«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.»

The larger research project, which has led now to the identification of a responsible gene, became possible when Komáromy learned of the work of professor Lohi and Dr. Ahonen in the Department of Veterinary Biosciences and Research Programs Unit at the University of Helsinki, Finland, and the Folkhälsan Institute of Genetics.

The earlier discovery of mutations in UBQLN2 gene, which causes ALS and ALS / dementia in children and adults, in the Siddique lab led to the screening of the UBQLN family of genes in a large cohort of patients with familial ALS, resulting in the identification of the UBQLN4 mutation.

Identification of a gene needed to expand light harvesting in photosynthesis into the far - red - light spectrum provides clues to the development of oxygen - producing photosynthesis, an evolutionary advance that changed the history of life on Earth.

Much like mutation of the gene BRCA marks people at risk to develop breast and ovarian cancers, identification of mutations in the gene ETV6 may allow doctors to predict the development of ALL, allowing increased monitoring and in the future, perhaps strategies to prevent the disease.

In particular, the comparison of gene sequences in large numbers of patients and controls will be a key step in strategies for disease gene identificatioIn particular, the comparison of gene sequences in large numbers of patients and controls will be a key step in strategies for disease gene identificatioin large numbers of patients and controls will be a key step in strategies for disease gene identificatioin strategies for disease gene identification.

The importance of this lies in proving the usefulness of the amelogenin gene as a standard for gender identification.

The discovery generated worldwide headlines, but some teams were unable to replicate the findings and the actual genes have not been found — not even by a team that vindicated Hamer's identification of Xq28 in a sample size 10 times larger than his last year.

Collaborative research in Japan, under the guidance of the principle investigators from Fujita Health University and RIKEN, led to the identification of a novel risk gene (FADS1 and FADS2) for bipolar disorder via GWAS performed using samples collected in Japan (2,964 cases and 61,887 comparison subjects).

Research fields are diverse, including basic research on cell proliferation, analysis of tumour cells and tissues to detect gene mutations, and identification of potential therapeutic targets in cancer.

The identification of these modifier genes has proven to be challenging in humans, largely because the disease is very rare.

Dr Todd said: «The identification of the DMSP synthesis genes in marine bacteria and phytoplankton allows us to evaluate for the first time which organisms produce DMSP in the environment.

The scientists» genomic search narrowed in on genes that code for the production of antigens, which serve as a source of identification to the immune system.

«Our systematic screen offers an important first step toward the comprehensive identification of all miRNAs and their potential targets that serve in gene networks important for normal learning and memory,» said Ron Davis, chair of TSRI's Department of Neuroscience who led the study.

In December, the Nobel Prize for Medicine and Physiology will be awarded for the identification of genes that control the biological clock.

The March of Dimes Prematurity Research Center — Ohio Collaborative, launched in 2013, is responsible for the gene identification component of the network of five Prematurity Research Centers nationwide established by the March of Dimes to identify the unknown causes of preterm birth.

Back in the lab in Norman, Lewis and his colleagues used state - of - the - art gene sequencing methods that allowed them to get long segments of the gene that is used as the standard for classification and identification of microbes, because it differs in various bacteria.

Still, «this is the first clear identification» of a gene «with direct relevance for language ability,» says geneticist Svante Pääbo of the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany.

«The identification of genes linked to brain changes in autism is just the first step,» said Dr Rafael Romero - Garcia.

Identification of these genes provides support for previously hypothesized mechanisms of high - altitude adaptation and illuminates the complexity of hypoxia - response pathways in humans.

On the other hand, the gene Trypsin - 7 appears to affect the recognition potential, thus enabling — at least in part — the identification of the host colonies required for a raid,» adds Feldmeyer in summary.

Independent identification of ERBB2 gene alterations was completed and frequency of that alteration, as well as others in the PTEN, PIK3CA and TP53 genes, were determined.

Targeted gene therapies, however, had to wait for (1) the identification of the genes to target, (2) the cloning and / or sequencing of the relevant genes and in some cases, the specific disease - causing variant, (3) a full understanding of the normal gene function and regulation, and (4) the development of efficient ways to deliver genes to the relevant tissues at therapeutic levels.

This is in contrast to the well - characterized VRC01 - like family of CD4 - binding site antibodies identified in multiple HIV - positive donors, which share both a heavy chain V gene precursor and unusual features at a DNA sequence level which could allow sequencing - based identification of other similar antibodies in distinct patients [53].

For their seminal contributions to concepts and methods of creating a genetic map in the human, and of positional cloning, leading to the identification of thousands of human disease genes and ushering in the era of human genetics.

The identification of genes that are synthetically lethal in β - catenin - activated cancer cells would provide new targets for therapeutic drug design.

Zutter, MM, Santoro, SA, Painter, AS, Tsung, YL, Gafford, A. Identification of positive and negative regulatory elements important in cell - type and developmentally - restricted gene expression.

In a paper published in the online edition of Nature Genetics, a deCODE - led team of scientists describes the identification of the first gene found to confer significant risk of the common form of heart attacIn a paper published in the online edition of Nature Genetics, a deCODE - led team of scientists describes the identification of the first gene found to confer significant risk of the common form of heart attacin the online edition of Nature Genetics, a deCODE - led team of scientists describes the identification of the first gene found to confer significant risk of the common form of heart attack.

In the course of this work, he has pioneered several new approaches in the fruit fly that have had important implications for mammalian neurobiology, including: the demonstration that the fruit fly has a sleep - like behavior similar to that of mammals, studies of physiological and behavioral consequences of mutations in a neurotransmitter system affecting one of the brain's principal chemical signals, studies making highly localized genetic alterations in the nervous system to alter behavior, and molecular identification of genes causing naturally occurring variation in behavioIn the course of this work, he has pioneered several new approaches in the fruit fly that have had important implications for mammalian neurobiology, including: the demonstration that the fruit fly has a sleep - like behavior similar to that of mammals, studies of physiological and behavioral consequences of mutations in a neurotransmitter system affecting one of the brain's principal chemical signals, studies making highly localized genetic alterations in the nervous system to alter behavior, and molecular identification of genes causing naturally occurring variation in behavioin the fruit fly that have had important implications for mammalian neurobiology, including: the demonstration that the fruit fly has a sleep - like behavior similar to that of mammals, studies of physiological and behavioral consequences of mutations in a neurotransmitter system affecting one of the brain's principal chemical signals, studies making highly localized genetic alterations in the nervous system to alter behavior, and molecular identification of genes causing naturally occurring variation in behavioin a neurotransmitter system affecting one of the brain's principal chemical signals, studies making highly localized genetic alterations in the nervous system to alter behavior, and molecular identification of genes causing naturally occurring variation in behavioin the nervous system to alter behavior, and molecular identification of genes causing naturally occurring variation in behavioin behavior.