Sentences with phrase «underlying gene for»

I also analysed exome sequencing data for rare genetic disorders and identified the underlying gene for TAR syndrome and Gray Platelet Syndrome.
Dr. Malaspina continued «I think three of the interesting factors that have been linked to the risk of schizophrenia are severe stress in a stress - sensitive person who has underlying genes for schizophrenia, traumatic brain injury in those with underlying genes for schizophrenia, and, very importantly, cannabis exposure in early adolescence.»

Not exact matches

The postdocs refused: they were busy hunting for genes underlying Alzheimer's, and APOE seemed an unlikely candidate.
Korenberg was convinced that with Mills» approach of directly measuring the brain's electrical firing they could solve the puzzle of precisely which genes were responsible for building the brain wiring underlying the different reaction to human faces in Williams syndrome.
«If this approach works in humans, it will really change the conversation that providers have with patients,» Scadden said, especially for those «who have these underlying genetic disorders and for who the new gene - editing and gene therapy techniques are being developed.»
Approximately 80 % of Dravet patients have mutations in the gene SCN1A which encodes the Nav1.1 sodium channel, however for the remaining 20 % of patients the underlying genetic cause has yet to be determined.
Using next - generation sequencing to identify the underlying mutations causing these effects, the groups found that the only common suspect was again the ap2 - g gene — the gene that codes for producing the AP2 - G protein.
The neural circuits underlying social behavior «must be very different for humans and honey bees, yet it appears at the molecular level, the genes are employed in a similar manner,» he says.
Now researchers have identified for the first time a gene that may help explain the gender discrepancy and underlie some common autism symptoms.
Overall, the researchers estimated that for 42 per cent of the children in the study, a new mutation in a gene important for healthy development is likely to be the underlying cause of their condition.
The researchers set out to find the genes responsible for this growth defect and after years of work, they were able to discover the underlying gene, which they refer to as ICARUS1, reflecting the temperature sensitivity conferred by the gene.
Three will hunt for mutations underlying rare inherited diseases caused by a glitch in a single gene.
However, while the genetic factors responsible for reprogramming are well known, the mechanisms underlying the responses to induced gene expression changes are not as clear.
Using standard inheritance theory, scientists have searched for the genes underlying autism with little success.
For any given cell or tissue sample, these arrays can probe for the genes essential for understanding the underlying state of wellness or diseaFor any given cell or tissue sample, these arrays can probe for the genes essential for understanding the underlying state of wellness or diseafor the genes essential for understanding the underlying state of wellness or diseafor understanding the underlying state of wellness or disease.
Students in the UBC program engage in a wide range of research: molecular mechanisms underlying cell proliferation in cancer or cell death in stroke; relating gene mutations to disease mechanisms; the social factors that determine access to health care for women living on the street.
Among infants with neonatal abstinence syndrome (NAS; caused by in utero opioid exposure), variants in certain genes were associated with a shorter length of hospital stay and less need for treatment, preliminary findings that may provide insight into the mechanisms underlying NAS, according to a study in the May 1 issue of JAMA, a theme issue on child health.
Ivacaftor is the first drug to treat the underlying causes of cystic fibrosis rather than just its symptoms and is currently approved for patients with the «celtic gene» mutation carried by about four per cent of all patients and 10 - 15 per cent of patients in Ireland.
«This is an exciting new tool to answer important questions about proteins,» Cochran said, likening µSCALE to the way that high - throughput tools for gene analysis have allowed researchers to unlock key features of biology underlying human disease.
Scientists at the Centre for Genomic Regulation (CRG) in Barcelona, Spain, have developed a new technique to crack the underlying DNA code for the «control dials» that determine levels of gene activity in bacteria.
This detail will reveal some of the underlying principles that govern the organisation of our genomes — for example how chromosomes interact or how structure can influence whether genes are switched on or off.
This is not a very conceptually satisfying situation and does little to advance our understanding of the mechanism (s) underlying the changes in gene expression in response to the perturbation or its implications for clinical phenotype.
Moreover, our previous study found that regular use of aspirin after diagnosis was associated with longer survival among the 15 % to 30 % of patients with colorectal cancer and with a mutation in phosphatidylinositol -4,5-bisphosphate 3 - kinase, catalytic subunit alpha (PIK3CA [NCBI Entrez Gene 5290]-RRB-, one of the PI3K family genes.30 Markedly improved survival associated with aspirin according to PIK3CA status was also found in an analysis within a separate clinical trial cohort.31 Further investigations for the joint effect of these genes would be helpful to better understand the underlying molecular mechanisms of aspirin, NSAIDs, and colorectal cancer.
The researchers» strategy — generating disease - specific nerve cells, identifying a causative gene for developmental defects, validating the gene - specific defect in animal models, and then investigating interactions with other genes both in animal models and in humans — represents a promising new approach for understanding the mechanisms underlying some of the most intractable psychiatric illnesses.
Walsh and colleagues found that knocking out this gene disturbs the centriole's organization and function, suggesting an underlying biochemical mechanism for the brain deficits seen in the ferrets.
Gene encoding FLAP also confers risk for stroke; discovery pinpoints common biological mechanism underlying two of the world's biggest public health challenges
She has pioneered the intergration of large - scale genome and transcriptome sequencing data to understand how genetic variation affects gene expression, providing insight to cellular mechanisms underlying genetic risk for disease.
This is a unique scientific paradigm: the first publication determining the role of human - specific gene duplications during brain development came out of our laboratory recently (Charrier et al., 2012) and represents a milestone in our understanding of the genetic and neurobiological mechanisms underlying the emergence of human - specific traits of brain development, for example neoteny during synaptic maturation (Benavides - Piccione et al., 2002; Petanjek et al., 2011).
Specifically, use of post-mortem material is crucial for studying the patterns of normal gene expression underlying tissue specificity within individuals, as sampling such tissues from living individuals would be impossible.
We have been developing a genome - wide methylation screening for the identification of new imprinted genes, and are investigating the mechanisms underlying imprinted regulation.
In addition to his crop improvement work for foods, Rooney also worked with Texas A&M geneticists to elucidate the genes underlying photosensitivity in sorghum to develop energy sorghum hybrids for the future bioenergy economy.
«And, knowing the genes is the critical foundation for understanding the underlying biological mechanisms and identifying potential targets for treatment.»
February 6, 2004 Gene encoding FLAP also confers risk for stroke; discovery pinpoints common biological mechanism underlying two of the world's biggest public health challenges In a paper published in the online edition of Nature Genetics, a deCODE - led team of...
I also dug deep to uncover the underlying causes of my health problems — pyrrole disorder (aka pyroluria), heavy metal toxicity, and a pesky MTHFR gene mutation thrown in for good measure.
We are beginning our search for markers and genes underlying elbow dysplasia.
More recently, genetic researchers have favoured molecular methods to look for the genes underlying behavioural disorders.
Identification of genes responsible for canine monogenic diseases (caused by one gene) is advancing rapidly, but the genes underlying behaviours remain elusive.
Although individualized teaching strategies may change epigenetic gene expression and improve reading and writing during earlier stages of education, the underlying gene sequences may continue to play an etiological role for individuals with expressive writing disorder, especially as curriculum requirements increase in nature, complexity, and volume with increasing academic complexity.
Taken together, these studies underscore the utility of incorporating cultural traits, such as individualism — collectivism, in macro -(e.g. cross-population) and micro-scale (e.g. within - population) models of GxE factors underlying complex affective disorders and the importance of culture — gene coevolutionary theory for understanding typical and atypical human behaviour, more broadly construed.
a b c d e f g h i j k l m n o p q r s t u v w x y z