Just because scientists
know the gene responsible for a rare disease doesn't mean they know what's going on.
Not exact matches
«We want to
know which are the most important
genes that are
responsible for the improved learning and recovery of memories,» she adds.
With the aid of DNA markers, we now
know which
gene is
responsible for which molecular feature.
The researchers discovered the actions of multiple independent meiotic drivers in fission yeasts in an earlier study, reported in 2014 in eLife, but didn't
know which
genes were
responsible, or how they destroyed gametes that didn't inherit the
genes.
Researchers have
known for decades that the glycophorin cluster of
genes is highly variable, but it was not possible to show that this genetic variation was
responsible for protecting people against severe malaria.
In most cases, the
genes responsible for these processes are
known as «transcription factors» — meaning that they are
responsible for turning other
genes on and off.
But for a
gene therapy to be effective, one must
know the precise
gene responsible for a given individual's disorder and develop a tailored treatment.
The team attempted to modify the
gene responsible for β - thalassaemia, a potentially fatal blood disorder, using a
gene - editing technique
known as CRISPR / Cas9.
If we
know which
genes are
responsible for breast cancer, then we can tailor therapies to target those
genes specifically.»
If researchers could identify and screen for the
responsible genes, such people would
know that solitude could leave them vulnerable.
In 1991, Robertson and her colleagues reported an unusual discovery involving a
gene called Igf2, which is
responsible for producing a protein
known as insulin - like growth factor II (IGF - 2), important for the growth of many kinds of tissue in the developing fetus.
As it is well
known that hypertension is a complex, multifactorial, quantitative trait under a polygenic control, 30 % to 50 % of the variation in blood pressure between individuals is attributed to genetic factors, and the
genes responsible for susceptibility and blood pressure variation are mostly unknown.
«There are some patients with retinal disease who don't show
gene mutations that we
know are
responsible for disease,» he said.
Dr Jamshidi said: «These findings can be used for diagnostic testing of people with symptoms similar to those described in this study and where the
gene responsible for their condition is not
known.
The first
known identification of two
genes responsible for hypoplastic left heart syndrome (HLHS), a severe congenital heart defect, has been reported by researchers at the University of Pittsburgh School of Medicine.
For more than two decades we've
known that a single
gene on the Y chromosome, called Sry, is
responsible for male sex determination.
Engelhardt's group was
responsible for mapping associations between genetic variants and
gene expression levels on different chromosomes, a connection
known as «trans - expression quantitative trait loci (trans - eQTLS).»
If we
know which organs or tissues are most
responsible for transporting copper throughout the body, we can focus on making sure the
gene is expressed in those areas.
In another paper in the same issue, a team led by molecular biologist Ronald Plasterk, now at the Hubrecht Laboratory in Utrecht, the Netherlands, reports an intriguing twist: The same
genes appear to be
responsible for both RNAi and another
gene - silencing mechanism
known as cosuppression, in which adding extra copies of a
gene cause both the new and the existing copies of that
gene to be shut down.
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.
Until now, we didn't
know any of the phytoplankton
genes responsible for the synthesis of this highly abundant marine nutrient.»
«We suggest to sequence the healthy DNA and that of the tumor of each patient to really
know which
genes are
responsible for the development of cancer,» explains Nikolaev.
For example, we
know that certain
genes are
responsible for autism and can use our model to give us insight into at what point the disorder begins developing.»
Previously
known mutations in the
gene encoding SLC25A3 are
responsible for poorly understood genetic disorders involving dysfunctional heart and muscle fibers, leading to enlarged hearts and low muscle tone.
Other medical sequencing projects will use DNA sequencing to: discover new
genes that are involved in common diseases; identify the
genes responsible for dozens of relatively rare, single -
gene (autosomal Mendelian) diseases; sequence all of the
genes on the X chromosome from affected individuals to identify those involved in sex - linked diseases; and survey the range of variants in
genes known to contribute to certain common diseases.
Finding the
genes responsible for the increased risk is not straightforward because small sequences of DNA can interact with completely different parts of the genome through a strange phenomenon
known as «DNA looping».
PPARγ was initially linked to adipocyte (fat cell) differentiation, but we now
know that it also regulates
genes responsible for lipid uptake, accumulation, and storage of lipids in those cells.
Best
known for identifying and cloning the desaturase
gene in Arabidopsis, which is
responsible for the synthesis of polyunsaturated fatty acids in plants, Browse has since been a leader in the effort to bioengineer crop plants to produce oils with increased levels of heart - healthy monounsaturated fatty acids.
Tet2 is a type of cellular enzyme
known as an epigenetic regulator —
responsible for making specific chemical annotations to regions of DNA that alter the activity of many different
genes.
In the new study, published online March 27, 2018, in Cell Reports, a team led by UCSF's David Raleigh, MD, PhD, found that increased activity of a
gene known as FOXM1 appears to be
responsible for the aggressive growth and frequent recurrence of these tumors.
Colleagues describe John Browse as simply one of the top plant biologists in the world.Best
known for identifying and cloning the desaturase
gene in Arabidopsis, which is
responsible for the synthesis of polyunsaturated fatty acids in plants, Browse has since been a leader in the effort to bioengineer crop plants to produce oils with increased levels of heart - healthy monounsaturated fatty acids.
The results suggested that each of the Wnt
genes (Wnt - 2b, Wnt - 8c, Wnt - 3a) were
responsible for turning on two forms of FGF, each of which controls both limb initiation and a bud or bulge
known as the apical ectodermal ridge (AER), which acts as the «organizer» of limb development.
With his bioengineering experience, Denby
knew that it was possible, though difficult, to isolate the
genes that code for those two flavor molecules and insert them into brewer's yeast, the microbe
responsible for fermenting barley into beer.
-- We have shown that the genetic change causing fibromelanosis is a complex rearrangement that leads to increased expression of Endothelin 3, a
gene which is
known for promoting the growth of pigment cells, explains Ben Dorshorst the post-doctoral researcher
responsible for the work.
Using genetic maps, scientists
know that the mutated
gene responsible for this tolerance lies on chromosome 1, now they just need to find it.
The drug, named Inclisiran, utilizes a technique called RNA interference therapy which targets, and switches off, a specific
gene known to be
responsible for elevated LDL levels.
Of course, we
know that
genes alone are not
responsible for cancer because we share many of the same
genes as our hunter — gatherer ancestors and even just the same
genes as our ancestors several generations ago, and yet the rate of cancer keeps going up.
It is very likely that you have a genetic variant on a
gene known as the MTHFR
gene which is
responsible in part for a very common and necessary chemical reaction
known as methylation.
White Miniature Schnauzers do not possess the «d» allele, which is commonly
known as the Dilution
gene responsible for diluting both eumelanin and phaeomelanin pigment.
Thanks to some feral cats in Northern California, scientists now
know that the same
gene responsible...
Thanks to some feral cats in Northern California, scientists now
know that the same
gene responsible for giving tabby cats their wide array of bands and blotches is also
responsible for a zebra's stripes and a cheetah's spots.
Since the proteins that form the viral spikes (corona) are
known to be
responsible for docking and entry, scientists are concentrating on that area looking for the specific things (S
genes) that may have changed there.
However,
responsible breeders will more than likely have vets doing
gene testing for them to weed out
known genetic diseases of the crossbreeds.
The same study found that in Shetland Sheepdogs a mutation of the pigmentation
gene known as Silver (or Silv) is probably
responsible for the merle pattern.