Slow - healing or non-healing bone fractures in otherwise healthy people may be caused
by gene variants that are common in the population, according to Penn State College of Medicine researchers.
It's caused
by a gene variant that makes too little LPH, an enzyme that breaks down lactose.
Not exact matches
Mostly they are optimists, excited
by the latest findings: the newly isolated
gene variant that may help explain schizophrenia, the new telescopic images that reveal the violent births of distant....
After finishing the survey, participants in the study can opt for an additional study and consider submitting DNA collected
by a cheek swab to be tested for
variants at the Apolipoprotein E (APOE)
gene.
These are subjected to so - called next generation sequencing, a technique that sifts the vast genetic composite, ferreting out sequence
variants (or alleles) caused
by mutations in
genes.
The study, which is published in the journal Molecular Psychiatry, describes a possible mechanism for how the
gene variant produces clinical symptoms
by affecting levels of specific proteins in the brain.
Genes also play a role in menopause, and two research teams have identified several
gene variants associated with advancing or delaying menopause
by as much as two years.
An apparently new
Variant of human serum albumin, albumin Naskapi, has been found in high frequency in the Naskapi Indians of Quebec and, in lower frequency, in other North American Indians.The family and population data of the albumin are consistent with its inheritance as a simple autosomal trait Controlled
by a
gene designated Al Naskapi.
That does not mean that breeders could create a 200 - pound Chihuahua
by swapping the small IGF1
variant for another, she says, because multiple
genes work together to shape a breed's traits, including its size.
Humans are still evolving and producing new
gene variants, and one of them may give protection against becoming addicted to alcohol -
by stopping us drinking altogether
By collaborating with Konrad Oexle and colleagues from the Institute of Neurogenomics at the Helmholtz Zentrum, München, Germany, the researchers could conclude that the genetic
variants in the
gene seem to contribute to all three disorders.
It comes out in support of a ruling in March
by a lower court that the patents, owned
by biotech firm Myriad Genetics, should be revoked because they cover
gene variants identical to ones that can be found naturally in women.
Earlier this year, he and colleagues reported that a
gene variant that tweaks people's sensitivity to growth hormone also boosts lifespan
by about 10 years — although only in men.
Last week, Nature reported that Pier Valerio Reinotti, an appeal court judge in Trieste, Italy, cut Bayout's sentence
by a year after finding out he has
gene variants linked to aggression.
In several groups of people, a
gene variant allowing the lactase, the enzyme breaking down the sugar in milk, to persist into adulthood became common about 5000 to 7000 years ago, when humans were herding cattle — as evidenced
by this rock painting of domestic cattle in the Jebel Acacus region of the Sahara desert in Libya.
By 12 months of age, infants with this
gene variant whose needs were consistently attended to responded to stress just as effectively as did the babies with other versions of the
gene.
By splicing the scrambled
genes into Escherichia coli bacteria and growing the new strains in colonies, he and his colleagues identified
variants that glow like GFP.
Lo was encouraged
by the
variants because retroviruses are extremely mutable pathogens that change their
gene sequences again and again in response to immune system efforts to kill them.
More than one quarter of children with two copies of a high - risk
variant in a specific group of
genes develop an early sign of celiac disease called celiac disease autoimmunity (CDA)
by age 5.
By characterising the DNA sequence of these individuals, the project gained insight into the contribution of rare
variants to a broad range of disease scenarios, and discovered new genetic
variants and
genes underpinning disease risk.
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.
By comparing the genome of these three variants, Di - Poï and Milinkovitch have discovered the gene affected by this mutatio
By comparing the genome of these three
variants, Di - Poï and Milinkovitch have discovered the
gene affected
by this mutatio
by this mutation.
«Using a technique developed
by our collaborators at the University of Iowa, we were able to get long - term expression of these human
gene variants in the fluid that bathes the entire brain,» says Bradley Hyman, MD, PhD, of the MassGeneral Institute for Neurodegenerative Disease (MGH - MIND), senior author of the report in the Nov. 20 Science Translational Medicine.
Instead,
gene variants will need to be introduced
by hybridization with other diverse strains of S. cerevisiae, says Borneman, such as those found in natural fermentations of African palm wine and other environmental isolates.
Their analysis — which used DNA data from a Neandertal woman from the Altai Mountains in Siberia (SN: 1/25/14, p. 17) and 112,338 present - day British people — confirmed some links between Neandertal heritage and human diseases made
by previous studies (SN: 3/5/16, p. 18), but didn't find evidence that Neandertal
gene variants contribute to obesity.
In the work presented here, we were able to show that stress — represented
by financial hardship — led to an increase in migraine in those who have a particular
gene variant.
Neanderthal genetic material is found in only small amounts in the genomes of modern humans because, after interbreeding, natural selection removed large numbers of weakly deleterious Neanderthal
gene variants, according to a study
by Ivan Juric and colleagues at the University of California, Davis, published November 8th, 2016 in PLOS Genetics.
He was also missing the Alzheimer's susceptibility allele apo, a well - established
variant of a
gene for apolipoprotein E carried
by approximately two out of three patients.
A
variant of a
gene that protects us against alcohol addiction, possibly
by making boozing intolerable, seems to be favoured
by evolution.
Moreover, disease - causing
variants in DNA often do not act directly, but
by activating nearby
genes.
The audience will learn about the current state of breast cancer research, how data generated
by NGS
gene panels target
variants of interest and have been developed and used in routine laboratory research, and the broader issues of breast cancer education, awareness, and community services.
Mice prefer the smell of other mice with different
variants of MHC
genes to their own and tend to confirm this preference
by mating with mice possessing dissimilar MHC
genes.
And even if such a demand existed, there was no evidence that genetic counseling could help patients with psychiatric disorders, which — like most of the more common diseases — are caused
by a complex interplay of multiple
genes and
variants as well as environmental factors.
Now, to enable widespread
gene delivery throughout the central and peripheral nervous systems, Caltech researchers have developed two new
variants of a vector based on an adeno - associated virus (AAV): one that can efficiently ferry genetic cargo past the blood - brain barrier; and another that is efficiently picked up
by peripheral neurons residing outside the brain and spinal cord, such as those that sense pain and regulate heart rate, respiration, and digestion.
But he adds that
genes are «team players,» and that SNVs that are benign in isolation could cause disease when accompanied
by other detrimental
variants.
«MARRVEL helps to facilitate analysis of human
genes and
variants by cross-disciplinary integration of 18 million records so we can speed up the discovery process through computation,» Liu said.
One difficulty in studying the genetics of common mental illnesses is that they are generally caused
by environmental factors in combination with multiple
gene variants, any one of which usually could not
by itself cause disease.
MacArthur's team calculated how many
variants each
gene should have if those changes arise
by chance.
With this knowledge we can not only improve yield and quality but also improve animal health
by identifying pathogenic
gene variants and ensuring that they are not passed on to future animals.»
«Since our study only looked at common
gene variants, the total genetic overlap between the disorders is likely higher,» explained Naomi Wray, Ph.D., University of Queensland, Brisbane, Australia, who co-led the multi-site study
by the Cross Disorders Group of the Psychiatric Genomics Consortium (PGC), which is supported
by the NIH's National Institute of Mental Health (NIMH).
So
gene variants that have been selected for are often found surrounded
by the same stretches of DNA, whereas those that have not been selected do not have consistent genetic neighbours.
Fugger says it is unclear how TNF influences MS, but in patients with the
gene variant, the TNF - blocking drugs could be providing a double - whammy
by suppressing TNF signalling further.
Thomas and his colleagues began this study
by searching for other possible IFITM3
variants that correlated with
gene expression, levels of the IFITM3 proteins and were common in flu patients in the U.S..
For instance, when the researchers removed the possible confounding influence of ApoE4
by looking only at families lacking that ApoE
variant, they found that the frequency of the mutant A2M
gene in Alzheimer's patients was four times greater than in their siblings who did not have the disease.
This is the prospect raised
by the discovery of
gene variants that seem to predict whether an individual will produce enough antibodies in response to a vaccine to protect them against disease.
A rare
gene variant discovered
by UCL (University College London) scientists is associated with an increased risk of developing schizophrenia, bipolar disorder and alcoholism, confirms new research.
First, autism may not be rigidly determined but instead may be related to common
gene variants, called polymorphisms, that may be derailed
by environmental triggers.
The effects of this previously discovered
gene variant were analysed
by utilising data from the unique and extensive METSIM study.
Now, a study led
by a researcher at the Salk Institute has found that
variants of a single
gene can largely determine a plant's ability to thrive in environments where iron is scarce.
Researchers suspect an autoimmune reaction is to blame because many people who develop narcolepsy — and just about everyone with the vaccine - associated form — have a specific
variant in a
gene in the HLA family, which helps the body distinguish its own proteins from those made
by microbial invaders.