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 disea
For any given cell or tissue sample, these arrays can probe
for the genes essential for understanding the underlying state of wellness or disea
for the
genes essential
for understanding the underlying state of wellness or disea
for 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.