Sentences with phrase «candidate gene studies»

Genetic research comprises formal genetic studies, candidate gene studies, linkage analyses, and recently large - scale genome wide association studies, gene - environement interaction studies, and pharmacogenetics.
«We started with candidate gene studies, then moved to common variants and genome wide association studies, and then, most recently, leveraged exome sequencing, he said.
Linkage and candidate gene studies have been highly successful in the identification of genes that cause the monogenic variants of diabetes and, although progress in the more common forms of T2D has been slow, a number of genes have now been reproducibly associated with T2D risk in multiple studies.
Several candidate gene studies suggest that variations in HLA class 1 and other genes contribute to differences in antibody response to influenza vaccines [15], [69], [70].
Furthermore, high - resolution analysis of cytosine methylation in primary and transformed cells has found less aberrant methylation of CpG island promoters in transformed cells than had been previously hypothesized based on candidate gene studies [58].
His team performed embryology experiments, molecular cloning projects, and candidate gene studies, coming at the problem from several different angles at once.
A candidate gene study of the androgen receptor gene enabled the detection of three alleles in the trinucleotide (CAG) repeat region in exon 1 in the Japanese Akita inu breed [100].

Not exact matches

Abeona Therapeutics (ABEO)- Data for ABO - 102 in MPS IIIA appears encouraging to me (decreases in heparan sulfate, neurocognitive benefits), initial data for ABO - 101 in MPS IIIB showed early promise, EB - 101 in RDEB could see an expedited path to market if the pivotal study yields fruit, and other gene therapy candidates are soon to enter the clinic.
McCallion's strategy to make sense of all this data looks at the active genes in cells affected by a disease, groups of genes that interact with one another, their vulnerability to mutation and information from past scientific studies to filter more than a thousand gene candidates for disease risk down to just a handful within any one implicated region.
«Identifying which of these candidate genes actually causes variation in responses to cold snaps will give us the potential to understand whether evolution to climate change can occur in both wild and domesticated animals, allowing us to better predict which species or breeds will be «winners» and «losers» and to better mitigate the effects of anthropogenic climate change on a wide range of organisms from beneficial pollinators to invasive pests,» said Theodore Morgan an associate professor of evolutionary genetics in the Division of Biology at Kansas State University and senior author of the study.
«Within these genomes, the areas where we see relatively common Neanderthal introgression are in genes related to metabolism and immune system responses,» says Recep Ozgur Taskent, the study's first author and a UB PhD candidate in biological sciences.
Predisposition to vascular disease was my focus here, using genetic epidemiological studies to identify novel polymorphisms in a range of candidate genes.
For the new study, presented last week at the Biology of Genomes meeting here, molecular biologist Marco Osterwalder of Lawrence Berkeley National Laboratory in Berkeley, California, and colleagues harnessed a powerful new gene - editing technique called CRISPR to figure out exactly how some of these candidate enhancers work.
The study, which has identified more than 200 rare variants inherited by children, determines that genes YWHAZ and DRP2, among others, are new candidates in the research on autism genetic basis.
Lynch and his colleagues are now identifying candidates for other mammoth genes to functionally test as well as planning experiments to study mammoth proteins in elephant cells.
Harris cited other examples of concern — a review of 100 studies in the field of psychology in which the findings in only about a third of the studies were reproducible; an effort by scientists at Bayer, another large drug company, that managed to reproduce the findings of only one - quarter of the studies under review; a just - published review of 25 historical candidate genes for schizophrenia which found no evidence that the candidate genes are more associated with the disease than other genes.
The scientists also tagged another 12 gene variants as promising candidates for further study.
In previous studies, Hu and her group reported that RORA is a novel candidate gene for autism and is regulated in opposite directions by male and female hormones.
Case studies described in the article show how microRNAs may affect voluntary alcohol consumption in mice, candidate genes within signaling pathways associated with chronic obstructive pulmonary disease, and the microRNA: gene interactions that influence bladder cancer.
«These findings suggest that focusing on genes with conserved expression levels among primates may be helpful in identifying promising candidates for disease - association studies,» the researchers write.
Previous genetic studies have examined the association of aspirin, NSAIDs, or both with colorectal cancer according to a limited number of candidate genes or pathways.6 - 10 Thus, to comprehensively identify common genetic markers that characterize individuals who may obtain differential benefit from aspirin and NSAIDs, we conducted a discovery - based, genome - wide analysis of gene × environment interactions between regular use of aspirin, NSAIDs, or both and single - nucleotide polymorphisms (SNPs) in relation to risk of colorectal cancer.
However, more studies are needed to dissect the role of the candidate regions and genes identified in selection regions,» says Järvelä.
«There has to be a functional way of assessing the role of these cancer - gene candidates as they appear in sequencing studies,» Sanchez - Rivera says.
What I like about this study is that it studied GWAS and candidate gene regions in careful investigations that included functional validation components.
Candidate gene and genome - wide association studies have identified variants associated with HBV - related disease progression or hepatocellular carcinoma in various populations [46][52].
In a study published January in the journal Molecular Biology and Evolution, Gibbs and his team compared the DNA of the fat fruit flies to a control group in the lab and found nearly 400 candidate genes potentially associated with obesity and other health problems.
Most recently, she has led the planning and execution of a program for a new gene therapy product candidate, from ideation through proof - of - concept study, and mapping out the development plan.
This study presents several candidate genes for further studies of the regeneration process.
The new knowledge and target candidate genes resulted from such unbiased study are ultimately important for researchers to understand the fundamental nature of stem cell proliferation and differentiation.»
In conclusion, our study characterizes the biological function of DDX3 as a putative candidate tumor suppressor gene, at least in HCC and cutaneous SCC.
This observation suggests that the bulk of genes involved in Nasonia immune response remain uncharacterized, with the current study being the first identification of additional candidate genes for immunity based on functional response to infection.
In addition to finding vaccine candidates, «the most striking feature of N. meningitidis from a genome perspective is that there are more contingency genes than any other bacterium or organism studied so far,» says Hervé Tettelin, leader of the N. meningitidis sequencing project at TIGR.
Despite type 2 diabetes having been well studied by genome - wide association studies in other populations, analysis in Mexican and Latin American individuals identified SLC16A11 as a novel candidate gene for type 2 diabetes with a possible role in triacylglycerol metabolism.
Projects restricted to the creation of conventional mouse knockouts in candidate disease genes identified by association studies, or to broadly overexpress those genes, are discouraged.
Some of the identified genes are previously known to be involved in the development of oyster shells, but the study also presents novel gene candidates.
Richarda Voer and colleagues report a study on novel candidate genes for colorectal cancer (CRC) at an early age in life.
For this study, Encode will isolate peripheral blood mononuclear cells from patients and generate gene expression profiles of cells through in vitro exposure to the candidate drug.
Recent studies proved that miRNAs and non-coding ultraconserved genes are main candidates for the elusive class of cancer predisposing genes and that other types of non-coding RNAs participate in the genetic puzzle giving rise to the malignant phenotype.
This section invites manuscripts describing (a) Linkage, association, substitution or positional mapping and epigenetic studies in any species; (b) Validation studies of candidate genes using genetically - engineered mutant model organisms; (c) Studies focused on epistatis and gene - environment interactions; (d) Analysis of the functional implications of genomic sequence variation and aim to attach physiological or pharmacogenomic relevance to alterations in genes or proteins; (e) Studies of DNA copy number variants, non-coding RNA, genome deletions, insertions, duplications and other single nucleotide polymorphisms and their relevance to physiology or pharmacology in humans or model organisms, in vitro or in vivo; and (f) Theoretical approaches to analysis of sequence varstudies in any species; (b) Validation studies of candidate genes using genetically - engineered mutant model organisms; (c) Studies focused on epistatis and gene - environment interactions; (d) Analysis of the functional implications of genomic sequence variation and aim to attach physiological or pharmacogenomic relevance to alterations in genes or proteins; (e) Studies of DNA copy number variants, non-coding RNA, genome deletions, insertions, duplications and other single nucleotide polymorphisms and their relevance to physiology or pharmacology in humans or model organisms, in vitro or in vivo; and (f) Theoretical approaches to analysis of sequence varstudies of candidate genes using genetically - engineered mutant model organisms; (c) Studies focused on epistatis and gene - environment interactions; (d) Analysis of the functional implications of genomic sequence variation and aim to attach physiological or pharmacogenomic relevance to alterations in genes or proteins; (e) Studies of DNA copy number variants, non-coding RNA, genome deletions, insertions, duplications and other single nucleotide polymorphisms and their relevance to physiology or pharmacology in humans or model organisms, in vitro or in vivo; and (f) Theoretical approaches to analysis of sequence varStudies focused on epistatis and gene - environment interactions; (d) Analysis of the functional implications of genomic sequence variation and aim to attach physiological or pharmacogenomic relevance to alterations in genes or proteins; (e) Studies of DNA copy number variants, non-coding RNA, genome deletions, insertions, duplications and other single nucleotide polymorphisms and their relevance to physiology or pharmacology in humans or model organisms, in vitro or in vivo; and (f) Theoretical approaches to analysis of sequence varStudies of DNA copy number variants, non-coding RNA, genome deletions, insertions, duplications and other single nucleotide polymorphisms and their relevance to physiology or pharmacology in humans or model organisms, in vitro or in vivo; and (f) Theoretical approaches to analysis of sequence variation.
She is scanning the genomes of individuals in the current study to identify regions that may contain additional gene candidates.
The white - footed mice's success is encouraging from a conservation perspective, since the urban mice were starting with a limited gene pool — only half the genetic diversity of country mice, noted Max Lambert, an urban ecologist and doctoral candidate at Yale University in New Haven, Connecticut, who was not involved in the study.
We examined 152 SNPs in 71 candidate genes for association with diabetes status and related phenotypes in 2,134 Caucasians in a case - control study and an independent quantitative trait (QT) cohort in the United Kingdom.
Such sharing raises the odds that two or more similar patients with candidate genes in common may be found, thereby allowing their condition to be more readily studied and understood.
To complement ongoing positional cloning efforts, we have undertaken a large - scale candidate gene association study.
This study additionally demonstrates that the systematic examination of panels of biological candidate genes in large, well - characterised populations can be an effective complement to positional cloning approaches.
However, if the purpose of such a scan is to identify candidate genes, then — as with single - gene studies — more detailed follow - up and functional validation of at least some of the key genes of interest are necessary to shore up the evidence.
Her research initially focused on the identification and characterization of juvenile dilated cardiomyopathy in Portuguese water dogs and has led to several ongoing studies, including most recently the evaluation of various candidate genes for use in a therapeutic gene transfer approach to improve cardiac function in failing hearts.
This study is designed to determine the incidence of BCSL in the breed, to determine the mode of inheritance if a single gene is involved, and identify candidate genes for further investigation.
Serotonergic receptor genes have been considered candidate genes in many studies looking at panic disorders in humans, but results have been inconsistent.
Over the past ten years, at least 27 studies in humans, and many in other animals, have identified one candidate gene in particular, known as NR3C1, which appears to be linked to methylation - induced changes in response to early life adversity and parental stress.
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