The Human Gene module of SFARI Gene serves as a comprehensive, up - to - date reference for all known
human genes associated with autism spectrum disorders (ASD).
In the current study, the researchers found that EBNA2 and its related transcription factors activate some of
the human genes associated with the risk for lupus and several other autoimmune diseases, including multiple sclerosis, rheumatoid arthritis, inflammatory bowel disease, type 1 diabetes, juvenile idiopathic arthritis and celiac disease.
The offspring of monkeys carrying
human genes associated with autismlike symptoms had abnormal social behavior, researchers found.
Monkeys harboring
a human gene associated with autism pace in circles, are anxious and don't socialize normally, scientists report January 25 in Nature.
Not exact matches
Until recently, half of the
human race died from infectious causes before adulthood, providing strong selective pressure for genetic alleles that enhance host defence but why are the genetic alleles that are most frequently
associated with depression so common in the modern
gene pool?
One - third of yeast
genes have counterparts in the
human genome, many of which are
associated with diseases, such as cancer.
Researchers at Weill Cornell Medical College recently identified a
gene abnormality that is
associated with anxiety - related behaviors; it makes
humans and mice hypervigilant to cues that signal danger.
To find out, the biologists developed a way to incorporate the
gene for the
human L - type photopigment into a small virus known as adeno -
associated virus.
These findings allowed researchers to create a chimera virus: a mouse virus with a
human viral
gene that can be used to test molecules that inhibit
human LANA protein in an animal model of disease, treating not only
human herpes virus infection but also its
associated cancers.
The total «knockout» of the
gene makes the model more effective for studying SHANK3 - related autism and Phelan - McDermid syndrome in
humans, many of whom are missing the
gene completely, said senior author Yong - hui Jiang, M.D., Ph.D., an
associate professor of pediatrics and neurobiology
Shatz got a hint when she looked up ailments
associated with mutations in
genes coding for the
human version of MHCI.
First they smuggled the
gene aboard a disabled version of the adeno -
associated virus, which thrives in the guts of rats and
humans.
«
Gene variants modifying Huntington's symptom onset may lead to new therapeutic strategies: Genome - wide association analysis identifies sites
associated with earlier - or later - than - expected symptom appearance in
human patients.»
The results showed a statistically significant number of
genes associated with domestication which overlapped between domestic animals and modern
humans, but not with their wild equals, like Neanderthals.
To identify signs of a self - domestication process in
humans, researchers made a list of
genes associated with domestication features in
humans, out of the comparison with the genome in Neanderthals and Denisovans, extinct
human species.
«Brain
genes related to innovation revealed in birds: Glutamate brain receptors, linked with
human intelligence, are also
associated with problem - solving skills in wild birds.»
The group has also shown that in
humans, genetic variants of the Oprl1
gene are
associated with higher risk of developing the disorder after exposure to trauma.
And 40
genes involved in these nine schizophrenia - related pathways also differed much more between chimps and
humans than
genes associated with the other 12.
It turns out that each virus that's been studied and
associated with cancer — such as hepatitis B with liver cancer or
human papilloma virus with cervical cancer — evolves characteristics that allow it to target those
genes immediately upon infection.
In
humans and mice, the
gene is
associated with height, face development and other traits.
«Our
gene therapy protocol is not yet ready for clinical trials — we need to tweak it a bit more — but in the not - too - distant future we think it could be developed for therapeutic use in
humans,» says Jeffrey Holt, PhD, a scientist in the Department of Otolaryngology and F.M. Kirby Neurobiology Center at Boston Children's and an
associate professor of Otolaryngology at Harvard Medical School.
Variation in pigmentation among
human populations may reflect local adaptation to regional light environments, because dark skin is more photoprotective, whereas pale skin aids the production of vitamin D. Although
genes associated with skin pigmentation have been identified in European populations, little is known about the genetic basis of skin pigmentation in Africans.
Horvath and Tell's research is the first reported study to compare breast cancer subtypes and
gene expression patterns
associated with STAT3 in the tumors of
human patients.
In the new study, the researchers examined the effects of
gene mutations known to be
associated with ASD in
humans.
The title of the paper is «Bioinformatic analysis reveals a pattern of STAT3 -
associated gene expression specific to basal - like breast cancers in
human tumors.»
Although that marker, called IL21, had not previously been
associated with autoimmune diseases, the
gene that produces it sits right in the stretch of DNA known to make these mice vulnerable to diabetes, suggesting that IL21 might make a drug target, says Sarvetnick.Furthermore, by giving the animals a shot of dead bacteria — similar to an immunization in
humans — when they were newborns, Sarvetnick and her colleagues prevented a surfeit of CD4 + and CD8 + cells.
In theory, this could allow researchers to, say, cripple or replace many parts of
genes associated with
human disease that CRISPR currently can not touch.
«To date, this type of system has only been used in
humans with viral methods of
gene delivery, of which the safety profiles are still heavily in debate,» says Betty Tyler,
associate professor of neurosurgery at Johns Hopkins.
Animal studies have suggested that overactivation of TLR7 plays a role in lupus, and a
gene variant that increases expression of the receptor has been
associated with increased lupus risk in
human patients.
Among the
gene variants modern
humans inherited from Neandertals are ones
associated with higher cholesterol, increased belly fat, rheumatoid arthritis and schizophrenia, researchers learned from analysis of the new Neandertal DNA.
Mutations in a
gene called progranulin (GRN) are commonly
associated with frontotemporal dementia, but GRN mutations in mice do not mimic all the features of the
human disorder, which has limited progress in the development of effective treatments.
The new research focused on just nine
genes, those most strongly
associated with autism in recent sequencing studies, and investigated their effects using precise maps of
gene expression during
human brain development.
However, the study showed the one area of the brain with the most
human - specific
gene expression is the striatum, a region most commonly
associated with movement.
A recent study in The American Journal of
Human Genetics claims to have found a
gene associated with the absence of fingerprints.
In
humans and also in mice, severe skeletal and cardiovascular defects are
associated with debilitating mutations in this
gene.
It is also known that zebrafish and
humans have very similar
genes, and these similarities extend to more than 80 % of the
genes associated with
human disease.
And many of the highlighted
human genes are
associated with the same critical cellular operations, such as the cell's protein - building factories, as in those species, MacArthur's group reports.
However, since the novel
genes that were identified, are known to lead to aging -
associated diseases in
humans, their further analysis seems to be promising for developing new approaches to understand and possibly cure these diseases and to contribute to a long life and healthy aging in
humans — in a way, long - lived rodents do.
«The beauty of this study is that we now have a system in which we can investigate how a signaling cell uses these two
genes Yorkie and Scalloped, which have never before been shown in blood, to direct specific cells to be made,» said Dr. Martinez - Agosto,
associate professor of
human genetics.
Modern
humans showed big alterations in the activity of
genes associated with face shape and larynx shape, compared with our forebears.
Among them, novel
genes like RHEBL1, AMHR2, PSMG1, or AGER were identified that have never before been linked to general aging processes and lifespan, but are known to directly contribute to the development of aging -
associated diseases like cancer or Alzheimer's disease in
humans.
In their new Conservation Genetics paper, the researchers say, «Past
gene flow also suggests that
human - assisted
gene flow is necessary to conserve the ecosystem services
associated with predation, since climate warming has reduced the frequency of ice bridges and with it the only opportunity for unassisted
gene flow.
For the new mouse model, the researchers exposed adolescent mice with at least one copy of a variant of the BDNF
gene, which has been
associated with anorexia and anxiety in mice and
humans, to social stress and caloric restriction.
«We set out to find out about
human genes that are implicated in the regulation of the gut microbiome, and we found some that are,» says senior author Ruth Ley, an
Associate Professor in the Department of Microbiology at Cornell University and the study's senior author.
To investigate, they measured mRNA levels
associated with the expression of 23,000
genes in
human brain tissue.
Indeed, nine of the 16 most distinctive
genes are ones that in
humans are
associated with heart disease, Willerslev says.
The genetic causes of bipolar disorder are highly complex and likely involve many different
genes, said Carrie Bearden, a senior author of the study and an
associate professor of psychiatry and psychology at the UCLA Semel Institute for Neuroscience and
Human Behavior.
A functional polymorphism in the promoter region of the
human serotonin transporter
gene (SLC6A4) has been
associated with several dimensions of neuroticism and psychopathology, especially anxiety traits, but the predictive value of this genotype against these complex behaviors has been inconsistent.
In fact, many of the anti-aging pathways
associated with yeast
genes are maintained all the way to
humans.
«Following on the work of TSRI Professor Ardem Patapoutian, who has identified many of the
genes that endow these neurons with selective responses to temperature, pain and pressure, we have found a way to produce induced sensory neurons from
humans where these
genes can be expressed in their «normal» cellular environment,» said
Associate Professor Kristin K. Baldwin, an investigator in TSRI's Dorris Neuroscience Center.