Researchers genes y linked. Medical search. Frequent questions

The group looked into whether the gene variants known to be associated with those diseases were also present in people with PFAPA syndrome by comparing patients with the disorder from European-American and Turkish ancestries with the general U.S. population. (genome.gov)
Further research is needed to know how variants on these genes affect breast cancer risk. (medicalnewstoday.com)
Current tests consider risk variants on a small number of genes, including BRCA1 , BRCA2 , and PALB2 . (medicalnewstoday.com)
How much rare coding variants in other genes account for breast cancer risk remains largely unknown. (medicalnewstoday.com)
Recently, researchers analyzed genetic data from 244,041 women to identify new gene variants linked to breast cancer. (medicalnewstoday.com)
Although most of the variants identified in these new genes are rare, the risks can be significant for women who carry them. (medicalnewstoday.com)
This discovery of new gene variants provides new avenues to explore to extend their lives," Mitchell Drumm, PhD, professor of pediatrics and genetics and interim vice chair for research in the department of pediatrics at Case Western Reserve University School of Medicine and University Hospitals Rainbow Babies & Children's Hospital, stated in a press release. (oandpnews.org)
London: Researchers have identified rare gene variants that cause male pattern hair loss, also termed androgenetic alopecia. (gulfnews.com)
To date, studies worldwide have focused primarily on common genetic variants, and have implicated more than 350 genetic loci, in particular the androgen receptor gene, which is located on the maternally inherited X chromosome. (gulfnews.com)
Among other methods, the Bonn researchers used a type of sequence kernel association test (SKAT), which is a popular method for detecting associations with rare variants, as well as GenRisk. (gulfnews.com)
Within this extensive data set, Bonn geneticists examined rare gene variants that occur in less than one per cent of the population. (gulfnews.com)
Using modern bioinformatic and statistical methods, they found associations between male-pattern hair loss and rare genetic variants in the following five genes: EDA2R, WNT10A, HEPH, CEPT1, and EIF3F. (gulfnews.com)
Prior to the analyses, EDA2R and WNT10A were already considered candidate genes, based on previous analyses of common variants. (gulfnews.com)
Our study provides further evidence that these two genes play a role, and that this occurs through both common and rare variants," explained Dr. Stefanie Heilmann-Heimbach, who is a research group leader at the Institute of Human Genetics. (gulfnews.com)
They are thus entirely new candidate genes, and we hypothesise that rare variants within these genes contribute to the genetic predisposition. (gulfnews.com)
A major international collaboration headed by researchers from the Danish iPSYCH project, the Broad Institute of Harvard and MIT, Massachusetts General Hospital, SUNY Upstate Medical University, and the Psychiatric Genomics Consortium has for the first time identified genetic variants which increase the risk of ADHD. (upstate.edu)
Overall, the results show that the risk variants typically regulate how much a gene is expressed, and that the genes affected are primarily expressed in the brain," explains Demontis. (upstate.edu)
The researchers discovered that the same genetic variants that give rise to an ADHD diagnosis also affect inattention and impulsivity in the general population. (upstate.edu)
Pathogenic variants in the SCN2A gene can lead to a wide range of clinical features - or phenotypes - associated with neurodevelopmental disorders. (eurekalert.org)
This allowed researchers to link clinical features with specific genetic variants. (eurekalert.org)
For example, protein-truncating variants, which are genetic variants that shorten the coding sequence of genes, were associated with autism and behavioral abnormalities. (eurekalert.org)
The CHARGE researchers conducted a genome-wide analysis of 2.5 million known genetic variants in a group of nearly 7,000 white participants. (blogspot.com)
The PSU group then proved the golden gene was responsible for the differences between the two zebrafish variants. (nsf.gov)
Variants of the gene MAOA produce less or more of an enzyme that degrades several signalling chemicals, known as neurotransmitters. (newscientist.com)
Replication studies identify several genetic variants in Arabs with obesity-linked diabetes. (who.int)
For example, variants of the ADIPOQ gene (the rs266729 single-nucleotide polymorphism) are associated with obesity and diabetes in various Arab countries. (who.int)
This means taking different types of cancer, for example, as the starting point and trying to identify the genes and the different protein variants that differ between healthy and ill individuals. (lu.se)
Since CYP2C variants, including CYP2C9*3 are genes related to phenytoin metabolism, and delayed clearance of plasma phenytoin was also observed in this study, the functional correlation should be able to [be] applied to general populations. (medscape.com)

HEPH, CEPT1, and EIF3F represent highly plausible new candidate genes, given their previously described role in hair development and growth. (gulfnews.com)
Evogene completed the initial stage of their study for finding candidate genes in microorganisms that can be used to confer insect resistance in important crops. (isaaa.org)
The next step in the study is to validate that the candidate genes are effective in controlling target insects such as corn rootworm and corn earworm. (isaaa.org)
In addition candidate genes for gum production will be isolated and haplotype based association genetic tests will be used to identify and validate the association of candidate genes with gum quality. (europa.eu)
We compared Gene Prospector results for the query "Parkinson" with a list of 13 leading candidate genes (Top Results) from a curated, specialty database for genetic associations with Parkinson disease (PDGene). (cdc.gov)
Nine of the thirteen leading candidate genes from PDGene were in the top 10th percentile of the ranked list from Gene Prospector. (cdc.gov)
In fact, Gene Prospector included more published genetic association studies for the 13 leading candidate genes than PDGene did. (cdc.gov)

These individual small studies thereby linked various types of exercise training to the expression of various genes, as measured by the activity of messenger RNA, which translates the genetic code into the activity of proteins. (sciencenews.dk)
Based on patterns in their DNA sequences, these genes likely encode proteins in the bacterial membrane. (umd.edu)
This is a prime location for gene products involved in infection because many dangerous bacteria secrete toxins or proteins through the membrane to attack the host. (umd.edu)
It is hoped that further study may reveal target genes of PRDM proteins so a greater understanding of the functions of the PRDM family can be achieved. (wikipedia.org)
Murphy and his colleagues are using bioinformatics to identify genes predicted to encode proteins on the surface of the organism, construct a gene chip to test which of more than 300 possible genes on the surface are identical or similar among multiple strains and then clone genes for some of the predicted proteins for testing in in vitro and mouse models. (hearingreview.com)
It has paved the way for studying how genes regulate the most basic functions of the cell, including what proteins to produce and how to make them. (cdc.gov)
In 2014, scientists developed a draft map of the human proteome , which catalogued proteins encoded by over 17,000 human genes, or about 84% of all protein-coding genes in the human genome. (cdc.gov)
These genes code for proteins that are involved in cell-cell adhesions (CTNNA3), glutathione conjugation for xenobiotic metabolism (GST gene family), and immune system response (HLA gene family). (cdc.gov)
Within the research field of proteomics, researchers study the link between proteins and disease. (lu.se)
We need to know more about the proteins that our genes produce. (lu.se)
We have around 20 000 genes that can produce at least 500 000 proteins. (lu.se)

Retrieved on September 24, 2023 from https://www.news-medical.net/news/20190925/Johns-Hopkins-researchers-link-a-gene-to-melanoma-growth-and-spread.aspx. (news-medical.net)
April 28, 2023 -- Researchers have created a lentiviral gene therapy vector capable of targeting muscle cells to treat the rare disease Duchenne muscular dystrophy (DMD) in mice. (scienceboard.net)

Researchers have linked a number of genes, including BRCA1 and BRCA2, to the development of breast cancer. (medicalnewstoday.com)
BRCA1 and BRCA2 are tumor suppressor genes. (medicalnewstoday.com)
A change in this gene results in a protein that interacts with the BRCA1 and BRCA2 genes. (medicalnewstoday.com)
This happens, for example, in the case of mutations in the BRCA genes (BRCA1 and BRCA2), which have been linked not only to the risk of breast cancer, but also ovarian, peritoneal, prostate and pancreatic cancer. (scienceinpoland.pl)

By studying the patterns of DNA from 11 families with an unusual predisposition to the rare childhood lung cancer pleuropulmonary blastoma (PPB) investigators found that children with the cancer carried a mutation in one of their two DICER1 gene copies. (scienceblog.com)
Now we are closer to understanding why patients with the exact same genetic mutation in the cystic fibrosis gene have such widely varying manifestations of lung disease, and closer to finding new therapies. (esiason.org)
If the mutation causes an interesting effect, scientists can identify the mutated gene by locating the transposon, sequencing the DNA surrounding the transposon and mapping its location in the genome. (umd.edu)
The mutation of this gene results in a non-functioning protein, which in-turn causes a failure to develop the pain-sensing nerve endings and an organism without sensitivity to pain. (wikipedia.org)
First, a mutation in the SCN9A makes it impossible for nociceptors to respond to harmful stimuli because it causes the gene to lose its function. (wikipedia.org)
Second, a mutation in the NTRK1 causes a loss of function for the gene and leads to a failure in nociceptor development. (wikipedia.org)
Dr. Cybulski said: "We have sequenced the entire genome and identified one repetitive mutation in the ATRIP gene in a genetically homogeneous Polish population. (scienceinpoland.pl)
The mutation is responsible for shortening the protein encoded in the ATRIP gene. (scienceinpoland.pl)
The number of carriers of this ATRIP gene mutation in Poland is estimated at approx. (scienceinpoland.pl)
Researchers have calculated that in carriers of the 'Polish' mutation, the risk of developing breast cancer is most likely more than two times higher and exceeds 20 percent. (scienceinpoland.pl)
According to the researcher, because cancers in women with ATRIP mutation have impaired DNA repair by homologous recombination (just like cancers with mutations in BRCA genes), they are likely to respond well to chemotherapy (e.g. cisplatin) as well as treatment with PARP inhibitors. (scienceinpoland.pl)
The type of gene mutation you have often depends on what kind of lung cancer you have. (webmd.com)
Anyone can get a gene mutation that causes lung cancer. (webmd.com)
A mutation on this gene also affects how your cells grow and spread. (webmd.com)
In this mutation, two genes fuse together to create a new one. (webmd.com)
When you have this kind of mutation, there's a glitch that creates too many copies of the MET gene. (webmd.com)
You're more likely to have a mutation on this gene if you're a smoker. (webmd.com)
Maria Eriksson of the Karolinska Institute in Sweden, who discovered the progeria mutation in 2003, also thinks it unlikely that Brooke's condition relates to progeria, or to damage to the lamin A gene. (newscientist.com)
Cystic fibrosis is caused by an inherited mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. (medicalxpress.com)
It's been called the "warrior gene" - a mutation that seems to make people more aggressive. (newscientist.com)
Fly eyes with different colors ranging from normal (left, red) to abnormal (bright red, middle, mutation in the cinnabar gene), and white, right (mutation in the white gene). (mpg.de)
In 2001, a deletion mutation in the gene (now known as VPS13A) localized to chromosome band 9q21 was identified as the site for the defect generating the autosomal recessive form of NA. (medscape.com)

The eleven genes that emerged as having mutations significantly linked to aggressive prostate cancer include BRCA2, also known for its connection to breast cancer. (technologynetworks.com)
This test can be added to the test that detects about 10 percent of cases of breast cancer in Polish women, by examining a panel of several repetitive mutations of BRCA1, BRCA2, CHEK2, PALB2, NBN, RECQL genes in Poland. (scienceinpoland.pl)

A change in this gene causes hereditary gastric cancer and increases the risk of breast cancer. (medicalnewstoday.com)
Another condition caused by mutations in the PRDM12 gene is hereditary sensory and autonomic neuropathy type VIII. (wikipedia.org)
These are called "inherited" or "hereditary" gene changes. (webmd.com)
Aims to give an up-to-date overview of the genetics of hereditary hearing impairment for researchers and clinicians working in the field. (cdc.gov)

This signaling pathway is regulated by a gene, called neurofibromatosis type 1 (Nf1), which TSRI scientists found is linked with excessive drinking in mice. (scripps.edu)
Generally, Perera says, scientists approach their studies of the genetics of melanoma by looking to see which gene and protein products are up- or down-regulated in tumor cells compared with normal skin progenitors. (news-medical.net)
Scientists have learned that microRNAs can fine-tune the expression of many other genes, which is particularly important in normal human development. (scienceblog.com)
By deleting the NrCAM gene, scientists have found a potential way to cut back on the neural connections implicated in Autism Spectrum Disorder. (neurosciencenews.com)
Scientists at the UNC School of Medicine have discovered that knocking out the gene NrCAM leads to an increase of dendritic spines on excitatory pyramidal cells in the brains of mammals. (neurosciencenews.com)
An international research team led by scientists in the Center for Genetic Epidemiology at the Keck School of Medicine of USC and USC Norris Comprehensive Cancer Center has singled out mutations in 11 genes that are associated with aggressive forms of prostate cancer. (technologynetworks.com)
Scientists have identified new genes linked to breast cancer. (medicalnewstoday.com)
But here is something that scientists now know: A team led by Professor [Fu] has reported the first genetic link to how much sleep we need. (mbirgin.com)
But keep in mind that the scientists say this mutated gene may be rare. (mbirgin.com)
Scientists have mapped the points at which vitamin D interacts with our DNA -- and identified over two hundred genes that it directly influences. (sciencedaily.com)
Until recently, however, scientists did not have the tools to locate the genes that influence human behaviors. (technologyreview.com)
Specifically, the big haul of education-linked genes will allow scientists to "begin to ask questions about how individual genes contribute to biological pathways that eventually lead to brains and learning," he says. (technologyreview.com)
A new gene called ATRIP, whose mutations cause a high risk of breast cancer, has been discovered by Polish researchers in cooperation with scientists from Canada, reports Dr. Cezary Cybulski, a geneticist from the Department of Genetics and Pathomorphology of the Pomeranian Medical University in Szczecin. (scienceinpoland.pl)
In addition, the analysis of data from the British biobank (450,000 people) allowed scientists to conclude that pathogenic mutations of the ATRIP gene more than triple the risk of breast cancer in the UK (more mutations were discovered in the British population - PAP). (scienceinpoland.pl)
Therefore, scientists are currently investigating the links between mutations in the ATRIP gene and other malignancies, including ovarian cancer. (scienceinpoland.pl)
Scientists are learning more and more about the way these gene changes help the cancer grow and spread. (webmd.com)
Scientists give each gene a name to remember them. (webmd.com)
But while studying the zebrafish--a fish common to household aquariums and research laboratories--a team of interdisciplinary scientists found a gene that plays a major role in human coloration. (nsf.gov)
In a new study, published on August 21, 2020 in Science Immunology , an international team of researchers, led by scientists at University of California San Diego School of Medicine, report that the lasting nature of IBD may be due to a type of long-lived immune cell that can provoke persistent, damaging inflammation in the intestinal tract. (scitechdaily.com)

Despite more than ten years of utilizing next-generation sequencing techniques to investigate breast cancer susceptibility genes, more than 30% of the familial risk for breast cancer is still unidentified," said Dr. Gordon. (medicalnewstoday.com)
Given the capacity of such studies to produce a plethora of information that may then be described in a number of publications, selecting possible disease susceptibility genes and identifying related modifiable risk factors is a major challenge. (cdc.gov)

Chromatin play a huge role in neuron development, so researcher hypothesized that mutations in the PRDM12 gene prevent nociceptors and nerve fibers from developing normally. (wikipedia.org)

Genetics researchers have long been able to manipulate genes in fruit flies for investigations of nervous system pathways. (sciencedaily.com)
This study, which appeared online in the journal Nature Genetics, is among the first reported genome-wide scans of a single gene disorder. (oandpnews.org)
She along with Raymond Walters of Massachusetts General Hospital are the lead authors of the study, working as part of the ADHD group of the Psychiatric Genomics Consortium, an international consortium of researchers dedicated to uncovering the genetics factors that give rise to ADHD. (upstate.edu)
The new effort to link DNA to education, described today in Nature Genetics , is among the first to assess the genes of over one million people simultaneously. (technologyreview.com)
The new gene was discovered in a National Science Centre project carried out at the Department of Genetics and Pathomorphology of the Pomeranian Medical University in Szczecin, headed by Professor Jan Lubiński, in collaboration with the Women's College Research Institute of the University of Toronto. (scienceinpoland.pl)
But in the largest study to date using matched birth and school records, the researchers from Northwestern University, Stanford University and the University of Florida found family income won't necessarily mitigate the effects of genetics on cognitive outcomes. (phys.org)
As well as the established molecular markers (AFLPs and SS Rs), the "ASGEN" study will employ the novel and innovative approach of association genetics in order to identify markers that are linked to gum quality or genes responsible for gum quality. (europa.eu)
Elisabeth Knust leads a team of researchers from the Max Planck Institute of Molecular Cell Biology and Genetics in Dresden, Germany, who describe an essential role for one such metabolic pathway in maintaining retinal health under conditions of stress. (mpg.de)
Gene Prospector is a component of HuGE Navigator, an integrated knowledge base for genetics association and human genome epidemiology [ 7 ]. (cdc.gov)

People with a faulty PALB2 gene have a 33-58% lifetime risk of developing breast cancer. (medicalnewstoday.com)

In this experiment, which simulated the transition to excessive drinking that is associated with alcohol dependence in humans, they found that mice with functional Nf1 genes steadily increased their ethanol intake starting after just one episode of withdrawal. (scripps.edu)
Conversely, mice with a partially deleted Nf1 gene showed no increase in alcohol consumption. (scripps.edu)
Investigating further, the researchers found that in mice with partially deleted Nf1 genes, alcohol consumption did not further increase GABA release in the central amygdala. (scripps.edu)
In contrast, in mice with functional Nf1 genes, alcohol consumption resulted in an increase in central amygdala GABA. (scripps.edu)
Previous UNC studies showed that knocking out the NrCAM gene caused mice to exhibit the same sorts of social behaviors associated with autism in humans. (neurosciencenews.com)
Maness's finding comes on the heels of a report from Columbia University researchers who found an overabundance of the protein MTOR in mice bred to develop a rare form of autism. (neurosciencenews.com)
By using a drug to limit MTOR in mice, the Columbia researchers were able to decrease the number of dendritic spines and thus prune the overabundance of synaptic connections during adolescence. (neurosciencenews.com)
In a new study, McIver's laboratory and researchers at the University of Maryland School of Medicine identified two genes important for invasive group A Streptococcus infections in mice. (umd.edu)
A gene called Myc (pronounced "mick") that is among the most important drivers of cancer in both mice and humans also plays a newly discovered crucial role in aging, according to a new Cell Reports study by researchers at UPMC Children's Hospital of Pittsburgh and the University of Pittsburgh School of Medicine. (uwinhealth.com)
To overcome this major hurdle, Prochownik and his team waited until the mice were about 1 month old to inactivate the gene. (uwinhealth.com)
We waited nervously during the first several days after eliminating the gene in the first group of mice, and we were relieved to find that they survived. (uwinhealth.com)
Within weeks of eliminating Myc, the researchers noted that the mice started to age rapidly: They had greyer coats, lost some of their fur and were weaker, less coordinated and less active than normal mice of the same chronological age. (uwinhealth.com)
Prochownik speculates that mice lacking the Myc gene, which is so important for the development of cancer, were unable to develop tumors. (uwinhealth.com)
The researchers will continue to study the mice to test whether the gene is related to other medical conditions. (mbirgin.com)
Researchers link different mutations in a single gene to autistic and schizophrenic phenotypes in mice. (the-scientist.com)
By mutating the gene to remove the protein altogether, the researchers previously showed that they could induce autism-like traits in mice. (the-scientist.com)
But mice lacking the myocilin gene seem to have a normal drainage system, raising the possibility that the gene might be needed elsewhere. (nih.gov)
In the new study, NEI researchers explored the role of myocilin in other tissues in these mice, focusing on a peripheral nerve that connects the spinal cord to muscles in the leg. (nih.gov)
After administering the lentivirus to mice, the researchers detected micro-dystrophin in 5% to 25% of the muscle cells in limb muscles and 77% to 90% of muscle cells in the diaphragm. (scienceboard.net)
Researchers at Johns Hopkins Medicine have discovered that blocking an ion channel increases muscle function and survival in mice with severe Duchenne. (scienceboard.net)
The klotho gene is an example of a gene, in mice, that when mutated leads to some symptoms of premature ageing, but when it's overactive, it extends lifespan," she says. (newscientist.com)
Other researchers have identified IGF-1 as a gene linked with prolonged life in nematode worms , mice and humans. (newscientist.com)

Understanding more about different breast cancer genes could improve the accuracy of genetic testing for predicting breast cancer risk. (medicalnewstoday.com)
Genetic testing can determine whether or not a person has breast cancer genes. (medicalnewstoday.com)

In a secondary analysis, the team also used health records from the Queen Mary University of London Genes & Health Study, which contains health information on individuals of South Asian ancestry. (medscape.com)
The researchers drew on a vast trove of data, including genetic analyses, generated by two ongoing long-term studies of aging based at Rush University Medical Center, which includes study participants' donation of their brains for research after their death. (news-medical.net)
Then they conducted a complex, multiple step analysis 'to identify segments of the human genome (i.e, genes) that help us to maintain cognitive function in the face of advancing age and disease,' explains study senior investigator Philip De Jager, MD, PhD, professor of neurology at Columbia University Medical Center. (news-medical.net)
In the second part of the study, a collaboration with a distinguished group of geneticists at various U.S. institutions, the team analyzed data on human variations of the Nf1 gene from about 9,000 people. (scripps.edu)
A new study published in Science indicates that cocaine sensitization -- which is linked to addiction -- might be associated with circadian genes, the genes that set the biological clock. (sciencedaily.com)
This study opens up the field of drug studies to thinking how a totally unexpected set of genes functions in response to drugs," says Jay Hirsh, professor of biology at U.Va. and senior author of the report. (sciencedaily.com)
The study illustrates how long-standing health mysteries may now be solved when researchers discover new biological connections with the help of increasing amounts of genomic data. (genome.gov)
The new study is believed to be the first report of its involvement in melanoma and the first report of its regulation by miR-211, the researchers conclude. (news-medical.net)
Some of the genes in these panels were based on small studies and were not associated with prostate cancer in our study. (technologynetworks.com)
Now researchers have wrapped up the largest study ever conducted in the entire world. (eurekalert.org)
Fully 155 researchers from nine different countries collaborated on the study. (eurekalert.org)
The study helps to identify additional genes that could be inherited and increase risk or explain family history of breast cancer. (medicalnewstoday.com)
For the study, the researchers analyzed genetic data from 26,368 women with breast cancer and 217,673 without. (medicalnewstoday.com)
She added that the study did not take into account how lifestyle factors such as obesity or alcohol consumption may impact breast cancer risk or the expression of genes. (medicalnewstoday.com)
Researchers can use the database to much more easily study how exercise training affects the exact gene that interests them. (sciencenews.dk)
Instead of conducting a large and expensive study, the researcher can explore the many published data in MetaMEx to see how the gene reacts in a large study population. (sciencenews.dk)
The genetic study showed promising results in "silencing" the genes that translate into tau protein, the primary component behind dementia. (medicaldaily.com)
In a new study, researchers manipulated gut microbiota using flaxseeds and found it could be beneficial in the prevention of breast cancer. (medicaldaily.com)
Although similar, smaller cancer gene sequencing projects have been reported, our study is the largest to date and provides the statistical power to detect significantly mutated genes," study co-author Richard Wilson, director of Washington University's Genome Sequencing Center in St. Louis, said during a Tuesday teleconference. (bergerlagnese.com)
Before the new research, 10 genes linked to adenocarcinoma had been identified, including six of the 26 reported in this study. (bergerlagnese.com)
For the study, researchers looked for genetic mutations in lung cancer cells. (bergerlagnese.com)
It is important to study the role of the mutated genes in the growth and survival of lung cancer cells, which will help us work toward new treatments. (bergerlagnese.com)
Myc has traditionally been difficult to study because when it's eliminated in mouse embryos, they die before birth, indicating that the gene plays fundamental roles in normal growth and development. (uwinhealth.com)
The results of the study suggest that genes that are known to cause rare inherited diseases affecting both skin and hair. (gulfnews.com)
Furthermore, the results of the study suggest that genes that are known to cause rare inherited diseases affecting both skin and hair (such as the ectodermal dysplasias) may also play a role in the development of male-pattern hair loss. (gulfnews.com)
In the study, the researchers have also compared the new results with those from a genetic study of continuous measures of ADHD behaviours in the general population. (upstate.edu)
He is research head at iPSYCH and one of the leading researchers who directed the study along with Professors Stephen Faraone of SUNY Upstate Medical University and Benjamin Neale of Massachusetts General Hospital and the Broad Institute. (upstate.edu)
Now, in a study whose funders include the Medical Research Council (MRC), the MS Society, the Wellcome Trust and the MS Society of Canada, researchers at the University of Oxford have shown the extent to which vitamin D interacts with our DNA. (sciencedaily.com)
The largest-ever genetic study on human cognition has found more than 1,000 links between people's genes and how far they get in school. (technologyreview.com)
What's changed is that researchers can now study far larger groups of people. (technologyreview.com)
This study gives a glimpse into the mechanism by which different mutations within the same gene can cause distinct defects in the brain, and may help to explain how they may contribute to different disorders," study coauthor Guoping Feng of MIT said in a press release . (the-scientist.com)
Together, our study potentially provides a mechanistic explanation on how distinct mutations of the Shank3 gene may lead to distinct molecular, synaptic, and circuit defects and relevant behavior abnormalities. (the-scientist.com)
Researchers have cast doubt on a widely-held belief that connects family income with cognitive development, according to a new study published in Proceedings of the National Academy of Sciences . (phys.org)
Being able to say that 'genes' matter more for this group versus that group is appealing partly for its simplicity," said study co-author Jeremy Freese of Stanford. (phys.org)
A new study from the National Eye Institute reveals that myocilin-a protein linked to a significant fraction of glaucoma-is needed to insulate peripheral nerves. (nih.gov)
In addition to the FHS, this work included data from the NHLBI's Multi-Ethnic Study of Atherosclerosis, the Age Gene/Environment Susceptibility Study, the Heinz Nixdorf Recall Study, the Malmo Diet and Cancer Study, and the Copenhagen City Heart Study. (blogspot.com)
Such an approach was not uncommon to Cheng, who has long used zebrafish as a model organism to study cancer because of its rapid reproduction cycle and many genes in common with humans. (nsf.gov)
October 29, 2015 - A single variation in the gene for brain-derived neurotropic factor (BDNF) may influence obesity in children and adults, according to a new study funded by the National Institutes of Health. (nih.gov)
The study suggests that the approach can enable the targeted delivery of a gene that encodes micro-dystrophin, a smaller version of the protein at the heart of DMD. (scienceboard.net)
Researchers have identified seven genetic markers linked with a woman's breast size, according to a new study. (foxnews.com)
While it's was known that breast size is in part heritable, the study is the first to find specific genetic factors that are associated with differences in breast size, the researchers said. (foxnews.com)
This suggests some of the same biological pathways underlie both normal breast growth and breast cancer, said study researcher Nicholas Eriksson, of 23andMe, the genetic testing company that conducted the study. (foxnews.com)
The study alone does not provide enough evidence to link breast size to breast cancer. (foxnews.com)
A new Mayo Clinic study bolsters evidence that colorectal cancer is often imprinted in family genes and passed on from one generation to the next. (medicalxpress.com)
Since the Kynurenine pathway is conserved from flies to humans, we asked whether these genes regulate retinal health independent of their role in pigment formation," says Sarita Hebbar, one of the lead authors of the study. (mpg.de)
For example, a gene difference known for its role in sickle cell disease in African Americans was newly confirmed in Hispanics and Latinos during the study. (medlineplus.gov)
The study provides new mechanistic evidence for a link between the cellular levels of Smarca5 and selected hallmarks of cancer that include genome instability, epigenetic reprogramming, evasion of cellular senescence, and cell immortality. (who.int)
To investigate a potential genetic commonality linked to the reactions, Dr. Chung and colleagues from Chang Gung Memorial Hospital, Keelung, Taiwan, conducted a genome-wide association study, using samples from 60 patients with phenytoin-related severe cutaneous adverse reactions and 412 population controls in Taiwan. (medscape.com)
By kontakt [at] artrosportalen [dot] se (The Arthritis Portal) - published 11 June 2021 In a new Swedish study by Lund University, researchers looked at how common it is with comorbidities in osteoarthritis of the knee and/or hip. (lu.se)

Researchers can also investigate whether exercise training affects the expression of genes differently between the sexes. (sciencenews.dk)

The innovative approach combined an analysis of the human genome - the complete set of genes in a person -- with an evaluation of the epigenome -- changes to DNA that helps determine which genes can be 'read' so its protein is made. (news-medical.net)
The results aren't completely definitive, but it's clear that more work needs to be done to determine which genes oncologists should focus on in testing. (technologynetworks.com)

To see which genes (if any) were involved in the disease, Dr. Manthiram and her team searched for commonalities in symptoms between PFAPA syndrome and two other inflammatory diseases: Behçet's disease, which causes inflammation of blood vessels, and canker sores. (genome.gov)
Some medicines targeting the relevant genes are already in use, but for other diseases. (eurekalert.org)
These may be subgroups of people with metabolic diseases such as insulin resistance, in which some genes may respond differently to exercise training among people with insulin resistance compared with people without insulin resistance. (sciencenews.dk)
There are a number of diseases and conditions that can result from mutations in the PRDM12 gene. (wikipedia.org)
When Walker and his colleagues sequenced Brooke's DNA, they found that the genes associated with the premature-ageing diseases were normal, unlike the mutated versions in patients with Werner's Syndrome and progeria . (newscientist.com)
The symptoms of these diseases arise not because a master gene controlling ageing is damaged, but because of mutations that give the appearance and manifestation of ageing through damage to genes governing function of specific biological structures. (newscientist.com)
Studying genes in families with a propensity for certain diseases has led to many critical advances in medicine, including the discovery of statins in family members who suffered heart attacks at an early age. (medicalxpress.com)
A You will not directly benefit but these studies may genes are helping us learn about many diseases and health eventually help the health of people in the future. (cdc.gov)
It's part of a national effort to better understand how differences in genes may make some ethnic groups more likely to get certain diseases. (medlineplus.gov)
Until ten years ago, it was hoped that the mapping of the human genome - all our genes - would enable us to better understand the course of different diseases. (lu.se)
A few years ago, researchers believed that they would easily be able to identify individual biomarkers for different diseases, i.e. that one protein would be enough to diagnose a certain disease. (lu.se)
Gene Prospector provides an online gateway for searching for evidence about human genes in relation to diseases, other phenotypes, and risk factors, and provides links to published literature and other online data sources. (cdc.gov)
Although many data sources for genes and diseases are in the public domain, finding published results with potential implications for understanding gene-disease relationships and gene-environment interactions is not a trivial task. (cdc.gov)

To try and identify a more concrete genetic association, the researchers used a genome-wide linkage scan to identify a risk locus for idiopathic interstitial pneumonia on the p-terminus of chromosome 11. (genengnews.com)
Our genome-wide comparisons demonstrated that although these polyploidization-derived SVs have evolved at distinct evolutionary stages, a large number of SV-intersecting genes showed enrichment in functionally important pathways related to secondary metabolites, photosynthesis and basic cellular activities. (bvsalud.org)
Genetic association studies, such as recent genome-wide association studies (GWAS), have provided a springboard for exploring the contribution of inherited genetic variation and gene/environment interactions in relation to disease. (cdc.gov)

In addition, the researchers found that TMEM106B -- a gene whose presence previously had been identified as possibly protecting against age-related frontotemporal lobar degeneration -- also may play a role in brain resilience. (news-medical.net)
The researchers also found some genes that are currently part of such panels are not linked with risk for aggressive disease. (technologynetworks.com)
We also found evidence that other genes perhaps ought to be added. (technologynetworks.com)
The list of genes, as well as those currently screened in genetic tests found not to be linked serious disease, could influence individualized treatment for prostate cancer, as well as screening. (technologynetworks.com)
The researchers also found special risk factors that exist for women and for weight-bearing joints like our knees. (eurekalert.org)
They found several new genes that may be linked to the condition. (medicalnewstoday.com)
They found evidence for several new breast cancer risk genes and potential evidence for others. (medicalnewstoday.com)
The researchers further found that subjects with IPF had significantly higher levels of MUC5B expression in their lungs than controls, and the protein was also expressed in IPF lesions. (genengnews.com)
Researchers have found that smoking causes chromosomal damage and speeds up aging. (medicaldaily.com)
The researchers also looked at genetic mutations found among different adenocarcinoma patients. (bergerlagnese.com)
Among smokers, there were many more gene mutations than those found in the lung cancer tumors of nonsmokers. (bergerlagnese.com)
The researchers found 2,776 binding sites for the vitamin D receptor along the length of the genome. (sciencedaily.com)
Using a principal component analysis to simplify the complexity of the data, the researchers found that three principal components accounted for one-third of the phenotypic variability in their dataset, emphasizing that despite the complexity of the data, informative clinical groups can be derived. (eurekalert.org)
Mutations in the myocilin gene have been found in up to four percent of people with adult-onset glaucoma and 10 percent with juvenile-onset glaucoma. (nih.gov)
An international genomics team called CHARGE (Cohorts for Heart and Aging Research in Genomic Epidemiology) found the variant in the gene for lipoprotein(a), a cholesterol-rich particle that circulates in the blood. (blogspot.com)
National Institutes of Health (NIH) researchers and collaborators have found that DUX4, a toxic protein made by the body, may be responsible for two very. (scienceboard.net)
The researchers were believed to have found higher-than-usual numbers of gene-regulating molecules called methyl groups in a region of the genome. (healthjockey.com)
They found that one of these individuals seem to have a DNA deletion of a region containing the OXTR gene. (healthjockey.com)
The researchers found consistent differences in OXTR methylation. (healthjockey.com)
The researchers also found evidence that this inflammatory T RM cell subtype might not remain confined to intestinal tissue, but may also escape into the bloodstream. (scitechdaily.com)
Previous research has found that people with MAOA-L , a gene that controls signalling chemicals in the brain, can be more aggressive. (newscientist.com)
They found 27 new gene variations. (medlineplus.gov)
Of the highest importance, the literature was found to be profoundly publication-biased, in which researchers need to report the data for all studied markers regardless of the statistical significance level. (cdc.gov)

Using this information for 979 participants, the researchers assessed how much each person's thinking ability withstood the development of memory loss despite the accumulation of brain pathology - in other words, how resilient they were to pathology. (news-medical.net)
There are a number of genes that could increase a person's risk of developing breast cancer. (medicalnewstoday.com)
A genetic counselor can organize a blood test to analyze the person's DNA for gene changes that could increase their risk of breast cancer. (medicalnewstoday.com)
The work, which involved DNA from 1.1 million people and researchers drawn from 40 institutions, led to a scoring system that can roughly predict how educated someone is by examining that person's DNA. (technologyreview.com)
Researchers say this new type of genetic assessment, termed a polygenic risk score , can also give insight into a person's chance of developing heart disease, mental illness, or other conditions. (technologyreview.com)
Earlier researchers have shown that providing oxytocin could improve an autistic person's social engagement behavior. (healthjockey.com)
Genomics studies all of a person's genes-also known as the genome-and looks at how someone's genes work together. (medlineplus.gov)

A lot happens in a cell when information is transferred from the genes' coding to a protein", explains Ákos Végvári, a researcher at the Division of Electrical Measurements at Lund University. (lu.se)
Researchers at Lund University in Sweden believe they have identified a gene variant that can cause cerebral small vessel disease and stroke. (lu.se)

Philadelphia, March 17, 2021 - Researchers from Children's Hospital of Philadelphia (CHOP) affiliated with the CHOP Epilepsy Neurogenetics Initiative (ENGIN) have compiled a complete genetic and clinical analysis of more than 400 individuals with SCN2A-related disorder, which has been linked to a variety of neurodevelopmental disorders, including epilepsy and autism. (eurekalert.org)

Further analysis of this region reveals five genes, all of which are turned on in cells of the respiratory system and some of which are known to play a role in inflammation. (esiason.org)

Using these data, the researchers looked for common variations that are associated more frequently with severe cases of CF, which led to a discovery of a region encompassed by two genes on chromosome 11. (esiason.org)
Analysis of the related patients revealed a second region on chromosome 20 that was linked to the disease. (esiason.org)
The Hopkins team is eager to determine which of the genes on chromosome 20 alters the severity of CF. "Our long-term goal is to extend the median life expectancy so that hopefully patients with more severe cases of CF will survive as long as those with milder forms of the disease," says Cutting. (esiason.org)
To further interrogate the resulting linked region on the p-terminus of chromosome 11, fine mapping was carried out by genotyping SNPs in unrelated subjects with FIP as well as subjects with IPF and controls. (genengnews.com)
PRDM12 therefore represents an attractive candidate tumour suppressor gene within the der(9) [derivative chromosome 9] CDR [commonly deleted region]. (wikipedia.org)
Of family members in this research who presented with epilepsy, 70-80% had large deletions in the NA gene, now known as VPS13A , on chromosome 9. (medscape.com)

Using a small noncoding RNA, microRNA 211, and tools that track the stability and decay of the protein-coding and noncoding RNAs in lab-grown melanoma cells, a team led by a Johns Hopkins Kimmel Cancer Center researcher identified highly unstable RNA molecules in human melanomas , including a novel miR-211 target gene DUSP3. (news-medical.net)
DICER1 makes an important protein that works to suppress other genes through intermediary molecules known as microRNAs. (scienceblog.com)

The main gene finding, ADRA2A , "points to a receptor on the cells that regulate the tone of these blood vessels," she continued. (medscape.com)
The gene encodes a protein located in the melanosome membrane that appears to regulate the flow of calcium in and out of that organelle and may play a role in melanin production. (nsf.gov)
Abnormal eye color arises due to mutations in genes that regulate pigment formation and a specific metabolic pathway. (mpg.de)
Being aware of the remarkable conservation of this metabolic pathway and the genes that regulate it, they used flies as a model system to unravel the role of individual metabolites in retinal health. (mpg.de)

Ranjan J. Perera, Ph.D., associate professor of oncology at the Johns Hopkins University School of Medicine, and colleagues report that using a specialized transcript sequencing method called BRIC-seq, they have identified highly stable and unstable mRNA gene transcripts that participate in cell growth and invasion during melanoma progression. (news-medical.net)

Other genes that could increase the likelihood of a person developing breast cancer include ATM , TP53 , CHEK2 , and PTEN . (medicalnewstoday.com)
Similar to the BRCA genes, CHEK2 helps repair DNA. (medicalnewstoday.com)
The researchers noted that changes in the RAD51D gene increased the risk of ER-negative cancer, while changes in CHEK2 , ATM , ERCC3 , and FANCC carry a moderate risk of ER-positive cancer. (medicalnewstoday.com)

The researchers determined the DNA sequence of 623 genes in 188 lung adenocarcinomas. (bergerlagnese.com)
Then they compared the DNA sequence of these genes with the same genes in normal tissue from the same patients. (bergerlagnese.com)
Also, it doesn't involve changes to DNA sequence itself, but somewhat to the way the genes appear to be turned off and on. (healthjockey.com)
It is this unique sequence that researchers use to identify and quantify the protein. (lu.se)

One gene, dual specificity phosphatase 3 (DUSP3), regulates important melanoma signaling pathways. (news-medical.net)

They performed more detailed analyses of six genes that are strongly linked to Behçet's disease and canker sores. (genome.gov)
Other studies have confirmed that the overabundance of dendritic spines on this type of brain cell allows for too many synaptic connections to form between neurons - a phenomenon strongly linked to autism. (neurosciencenews.com)

If there is a fault in the RECQL gene, there is a moderate risk of all types of breast cancer. (medicalnewstoday.com)

For example, the article overlooks some important genes, such as STK11 and TP53 , because of how rare they are in Europe. (medicalnewstoday.com)

Although gene changes may increase some people's risk of developing breast cancer, environment and lifestyle are also important factors. (medicalnewstoday.com)

PR domain zinc finger protein 12 is a protein that in humans is encoded by the PRDM12 gene. (wikipedia.org)
In humans, mutations in the PRDM12 gene can cause loss of pain perception brought on by defects in the development of sensory neurons. (wikipedia.org)
By searching a public database of human genome information, they did indeed find a very similar gene in humans. (nsf.gov)

After ruling out the possibility that the syndrome is caused by mutations in a single gene, they considered the possibility that multiple genes are involved. (genome.gov)
FLICKR, MR MCGILL Mutations in a single gene can play roles in multiple neurological disorders , such as schizophrenia and bipolar disorder. (the-scientist.com)

It is too early to tell if NrCAM and MTOR are linked, but Maness is now studying if the decreased amount of the NrCAM protein could trigger activation of MTOR. (neurosciencenews.com)
Your doctor may also mention mutations on the AKT, PTEN, or mTOR genes, which are linked to PIK3CA. (webmd.com)

They then combined these results with changes in overall gene expression levels and used computer program prediction tools to identify the specific gene targets of miR-211, discovering the previously unreported target DUSP3. (news-medical.net)
Juleen R. Zierath and her colleagues have used MetaMEx to identify the NR4R3 gene as one of the genes most responsive to exercise and inactivity. (sciencenews.dk)
It was the work of the North America CF Gene Modifier Consortium, which brought together dozens of investigators from the United States and Canada to identify which regions of the genome are associated with lung disease severity in almost 3,500 CF patients. (oandpnews.org)
Some researchers say the discoveries will permit assessment of children's learning potential from their DNA in the form of a genetic intelligence test , giving parents or school systems a way to identify those with extra promise or explain why others have trouble. (technologyreview.com)
The goal of the UB researchers is to identify M. catarrhalis antigens that are very similar among all strains, so that a vaccine based on a single antigen will protect against as many strains of the bacterium as possible. (hearingreview.com)
samples belong to you, but we will not give other researchers any information that could identify you. (cdc.gov)
Learn how ALS researchers from around the world can access and use ALS Biorepository samples as a valuable resource in their fight to identify the causes of ALS. (cdc.gov)

Identifying genes that contribute to resistance to these and other brain pathologies could provide researchers with new targets for developing medications that would enhance the brains of aging adults to resist Alzheimer's disease and other neurological conditions, Bennett says. (news-medical.net)
Because of the nature of the disease, researchers have long thought that answers may lie in genomics. (genome.gov)
Now we've discovered new genes that influence the course of disease and may enable prediction of disease severity and, most importantly, customization of treatments for patients with unfavorable genetic modifiers - this is the realization of individualized medicine. (esiason.org)
The researchers identified and phenotyped subjects with FIP or IPF from 82 families in which there had been at least two cases of either disease within three generations. (genengnews.com)
A team of international researchers, including Case Western Reserve University School of Medicine, have discovered regions of the genome that affect the severity of the genetic disease cystic fibrosis (CF), the most common lethal genetic disease affecting children in North America. (oandpnews.org)
For the last decade, Drumm and his colleagues have been searching for other genetic factors that modify the effects of the disease-causing mutations in the CFTR gene, either improving or exacerbating the disease as it unfolds. (oandpnews.org)
These were unusually concentrated near a number of genes associated with susceptibility to autoimmune conditions such as MS, Crohn's disease, systemic lupus erythematosus (or 'lupus') and rheumatoid arthritis, and to cancers such as chronic lymphocytic leukaemia and colorectal cancer. (sciencedaily.com)
They also showed that vitamin D had a significant effect on the activity of 229 genes including IRF8, previously associated with MS, and PTPN2, associated with Crohn's disease and type 1 diabetes. (sciencedaily.com)
Some researchers also think that the disease may be triggered by something in the environment. (medlineplus.gov)
Several studies have described the genetic information collected on individuals with disease-causing changes in this gene. (eurekalert.org)
The researchers extracted phenotypic information from SCN2A-related disorders published over the course of nearly two decades, encompassing every description of the disease in medical literature between 2001 and 2019, in addition to patients followed by ENGIN. (eurekalert.org)
If you have non-small-cell lung cancer (NSCLC), your disease began with changes to your genes. (webmd.com)
What makes these findings provocative is that we linked the genetic variant with a physiological change in lipoprotein levels, disease precursor in the form of calcium buildup, and fully diagnosed aortic valve disease, across multiple ethnicities," O'Donnell said. (blogspot.com)
November 30, 2015 - Mutant forms of breast cancer factor 1 (BRCA1) are associated with breast and ovarian cancers but according to new findings, in the brain the normal BRCA1 gene product may also be linked to Alzheimer's disease. (nih.gov)
Co-lead researcher Jessica J. Connelly, PhD, assistant professor in the Department of Medicine at the University of Virginia stated that, "The epigenetic link to autism is extremely exciting as it provides another opportunity for us to explore the heritability of this disorder and argues the importance of exploring epigenetic markers in complex disease. (healthjockey.com)
The Human Genome Project has already fueled the discovery of more than 1,800 disease genes . (medlineplus.gov)
Acanthocytosis has also been associated with the rare hypobetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP) syndrome, a disease of childhood akin to Hallervorden-Spatz disease and a defect in the gene for pantothenate kinase. (medscape.com)
Furthermore, more literatures suggest gene-environment interaction as a potential contributor to disease mechanism. (cdc.gov)
This review summarizes the major pathological factors linking obesity to diabetes, focussing on current epidemiological data related to obese diabetic patients in the Arab world, the etiology of the disease and the genetic determinants of diabetes and obesity. (who.int)
Researchers are therefore now working on 'disease-based proteomics' as well. (lu.se)
We developed a Web-based application that selects and prioritizes potential disease-related genes by using a highly curated and updated literature database of genetic association studies. (cdc.gov)
Gene Prospector is a Web-based application designed to help researchers prioritize and evaluate evidence for genes related to human disease or interactions with non-genetic risk factors. (cdc.gov)

Due to genomic similarities between PFAPA syndrome, Behçet's and canker sores, the researchers proposed naming them Behçet's spectrum disorders. (genome.gov)
The researchers were noted to have analyzed approximately 119 individuals with autism in order to recognize genomic rearrangements. (healthjockey.com)
Advances in genomic sequencing technology are transforming medical discovery, enabling researchers to conduct comprehensive explorations across whole genomes for individuals and populations. (cdc.gov)
What happened when genomic researchers targeted more diverse groups of people in their studies? (medlineplus.gov)
By increasing diversity in genomic studies, researchers can better tailor new treatments that benefit all populations. (medlineplus.gov)

In addition to showing that Nf1 is key to the regulation of the GABA, the research, which was published recently in the journal Biological Psychiatry , shows that variations in the human version of the Nf1 gene are linked to alcohol-dependence risk and severity in patients. (scripps.edu)
This indicates that certain circadian genes not only play a critical role in regulating the biological clock, but they may also function in ways that allow susceptibility to drug addiction. (sciencedaily.com)
The life cycle of a protein starts with a blueprint transcribed from a gene, followed by folding, which translates the blueprint to a three-dimensional structure that allows it to carry out its biological function, and ends with degradation. (cdc.gov)
Being able to link biological samples with the extensive epidemiological data in the Registry as well as having the genotype of those taking part in the Biorepository, makes the samples a unique resource. (cdc.gov)

These newly identified genes will hopefully lead to new therapeutic options, said Maik Pietzner, PhD , chair in health data modeling at Queen Mary University of London's Precision Healthcare University Research Institute (PHURI) and group leader in the Computational Medicine Group at the Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Germany. (medscape.com)
Despite a significant genetic contribution to alcohol dependence, few risk genes have been identified to date, and their mechanisms of action are generally poorly understood," said TSRI Staff Scientist Vez Repunte-Canonigo, co-first author of the paper with TSRI Research Associate Melissa Herman. (scripps.edu)
This research showed that Nf1 is one of those rare risk genes, but the TSRI researchers weren't sure exactly how Nf1 affected the brain. (scripps.edu)
Sanna believes future research should focus on exactly how Nf1 regulates the GABA system and how gene expression may be altered during early development. (scripps.edu)
Besides enabling the potential development of drugs to treat cocaine addiction, this research holds out the prospect that so-called "clock" genes -- which are involved in setting and maintaining the body's internal clock -- might have other, as yet undiscovered, roles in the body and brain. (sciencedaily.com)
Researchers at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, have discovered clues to the possible cause of recurring, non-contagious fevers and sores that affect only children. (genome.gov)
WASHINGTON, DC - Research published today in Science Express from the journal Science demonstrates the first definitive link between mutations in the gene DICER1 and cancer. (scienceblog.com)
When the research team looked at PPB tumors to see if there is any DICER1 protein being made from the remaining normal copy of the gene, they were surprised by the results: "We expected to see that the tumor cells had no DICER1 protein giving us a nice explanation for why the tumor cells had gone haywire. (scienceblog.com)
Very large studies are needed to inform the creation of gene panels used for testing," said corresponding author Christopher Haiman, ScD, holder of the AFLAC Chair in Cancer Research and professor of Population and Public Health Sciences at the Keck School of Medicine. (technologynetworks.com)
For example, alterations in one of the new genes, MAP3K1 , appear to give rise to a particularly high risk of breast cancer," said Dr. Jacques Simard, Ph.D. , professor of medicine at Québec-Université Laval Research Center, in a press release. (medicalnewstoday.com)
In this new database, we have integrated many studies to provide researchers with access to many more substantial data," explains the researcher behind MetaMEx, Juleen R. Zierath, Professor, Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen and Professor of Physiology, Karolinska Institutet, Stockholm, Sweden. (sciencenews.dk)
Juleen R. Zierath presents examples of how MetaMEx can make research on the link between exercise training and gene expression much easier. (sciencenews.dk)
Led by Yoann Le Breton, the study's first author and a research assistant professor in McIver's group, the researchers discovered scfA and scfB by performing transposon sequencing on the entire group A Streptococcus genome. (umd.edu)
The Prostate Cancer Foundation Scholar-in-Training Awards recognize promising young cancer researchers presenting outstanding proffered papers relating to advanced prostate cancer at the American Association for Cancer Research (AACR) Annual Meeting. (pcf.org)
Led by co-senior authors John T. Chang, MD, professor of medicine, and Gene W. Yeo, Ph.D., professor of cellular and molecular medicine, the research team performed mRNA and antigen receptor sequencing from immune cells isolated from samples taken from rectal biopsies or blood of IBD patients and healthy controls. (scitechdaily.com)
This will serve as an important resource for researchers to use when generating new hypothesis-driven research about diisocyanate toxicology. (cdc.gov)
Gene Prospector ranks the genes according to the amount of published literature in human genome epidemiology, as well as relevant, published research in two animal (rat and mouse) models. (cdc.gov)
With a presentation focusing on how research using chicken embryos can help cure an unusual form of childhood cancer, researcher Sofie Mohlin took home the win in this year's final. (lu.se)

Jan. 17 2018, Cleveland: Cleveland Clinic researchers have confirmed for the first time a mechanistic link between the gene HSD17B4 and deadly, treatment-resistant prostate cancer. (pcf.org)

The genes, subcutaneous fitness genes A ( scfA ) and B ( scfB ), may prove to be promising clinical targets in the fight against these infections, as there are no vaccines against group A Streptococcus or effective treatments for invasive infections. (umd.edu)
By linking clinical features to genetic abnormalities in a standardized format, the researchers hope their findings lead to improved identification and clinical intervention. (eurekalert.org)
To properly link genetic and phenotypic data, researchers from CHOP utilized Human Phenotype Ontology (HPO), a method that standardizes a patient's clinical features and allows that data to be translated similar to genetic data. (eurekalert.org)
A DMD gene therapy based on an adeno-associated virus (AAV) delivery platform, Sarepta Therapeutics' SRP-9001, is currently under review at the U.S. Food and Drug Administration (FDA) and rival candidates are in clinical development. (scienceboard.net)
Even though the methylation status of the OXTR gene is not an ultimate diagnosis of autism by itself, a test for methylation could be used together with other clinical tests for diagnosing autism. (healthjockey.com)
IDbases contain in addition to gene variation, also information about clinical presentation. (lu.se)

The exome-by-phenome-wide analysis uncovered 21 novel gene-phenotype associations, including genes linked to glaucoma and diabetes. (genomeweb.com)
With UK Biobank and FinnGenn data, researchers tracked down rare changes in the angiopoietin-like 7 gene that coincide with lower glaucoma and intraocular pressure risk. (genomeweb.com)
Researchers are making progress toward understanding how some cases of glaucoma begin. (nih.gov)

As part of their ongoing studies, Perera and his colleagues are also looking at how miR-211 might affect other melanoma gene transcripts in ways that promote cancer metastasis and resistance to certain anti-cancer drugs. (news-medical.net)
In the first stage of their investigations, Haiman and his colleagues sequenced the entire set of protein-coding genes among almost a third of participants. (technologynetworks.com)
Keith Cheng and his colleagues at Pennsylvania State University (PSU) first determined the gene, called golden, regulated pigmentation in the golden zebrafish. (nsf.gov)
People of European descent have the same melanosome characteristics as the lighter-pigmented fish--that is, fewer and smaller--suggesting to Cheng and his colleagues that a golden -like gene might also be involved in human coloration. (nsf.gov)

And in fact, a specific change in the human counterpart to golden was prevalent in individuals from lighter-skinned European populations, while the gene without the change corresponded to the darker pigmentation of West Africans and East Asians. (nsf.gov)
Critical gene differences may be missed if they don't occur in those populations. (medlineplus.gov)

The strongest association was with the gene IL12A , which encodes an inflammation-related protein that is used by the immune system. (genome.gov)
Other genes involved in the immune system also showed increased expression in patients, such as STAT4 , IL10 , and CCR1-CCR 3. (genome.gov)
Researchers don't know for sure what causes the immune system to do this. (medlineplus.gov)

Researchers have also linked changes in this gene to an increase in the risk of ovarian cancer. (medicalnewstoday.com)
Changes in this gene lead to Li-Fraumeni syndrome. (medicalnewstoday.com)
Researchers have linked changes in this gene to many types of cancer, including breast cancer. (medicalnewstoday.com)

A popular theory holds that genes play a larger role in brain development for children from advantaged environments than in those from poorer backgrounds, especially in the United States. (phys.org)
Genes also play a role. (nih.gov)

These genes would be good targets for a vaccine or treatment because the bacteria missing these genes did not flourish in the infection site. (umd.edu)
The results suggest that these two genes are involved in the invasion process and may be potential targets for therapeutics. (umd.edu)
These mutations are important, because mutated genes can be targets for anti-cancer therapy," Meyerson said. (bergerlagnese.com)
These genes could soon be new targets for lung cancer treatments," Meyerson said. (bergerlagnese.com)

Our genes are very important for the development of mental disorders - including ADHD, where genetic factors capture up to 75% of the risk. (upstate.edu)
Until now, there was little reason to suspect this new role for myocilin, since mutations in the myocilin gene do not appear to cause peripheral nerve disorders. (nih.gov)

We may come to see drug addicts more in terms of their genes, than as people who are not in control of their behavior. (sciencedaily.com)
We discovered which genes are involved in people with osteoarthritis. (eurekalert.org)
We therefore collect data from all of them in MetaMEx, so we link training with how genes are expressed among thousands of people," explains Juleen R. Zierath. (sciencenews.dk)
People who live to 100 years have lower measures of creatinine, glucose and uric acid in their blood compared to those with a comparatively shorter lifespan, researchers say. (medicaldaily.com)
Researchers from the Psychiatric Genomics Consortium have compared genetic variation across the entire genome for over 20,000 people with ADHD and 35,000 who do not suffer from it - finding twelve locations where people with a particular genetic variant have an increased risk of ADHD compared to those who do not have the variant. (upstate.edu)
We can now target our studies, so we can achieve a deeper understanding of how the risk genes affect the development of ADHD with the aim of ultimately providing better help for people with ADHD," says Anders Børglum. (upstate.edu)
People who inherit a faulty version of this gene may also notice pigmented spots in their mouths and on their lips. (medicalnewstoday.com)
People with a change in the NF1 gene will likely develop breast cancer at some point in their lives. (medicalnewstoday.com)
People with homozygous mutations of the PRDM12 gene experience congenital insensitivity to pain (CIP). (wikipedia.org)
People with progeria have a mutated version of the gene which produces progerin, an abnormal and malfunctioning version of lamin A. This results in the symptoms of premature ageing. (newscientist.com)
Now researchers report that people with this gene may not be aggressive, just better at spotting their own interests. (newscientist.com)
A Genes are the "instruction book" for people. (cdc.gov)

The women were primarily of European ancestry, although the researchers included some data from Malaysia and Singapore as well. (medicalnewstoday.com)
After analyzing the data, they identified 30 genes linked to breast cancer, of which six were particularly significant. (medicalnewstoday.com)
Each data set contained data from 10-50 participants, whom the researchers behind the studies had asked to perform different types of exercise training before measuring the expression of various genes through muscle biopsies. (sciencenews.dk)
These data demonstrate that different alleles of the same gene may have distinct phenotypes," the authors wrote in their paper. (the-scientist.com)
Some studies suggest that the difference in genetic influence between rich and poor families is particularly pronounced in the U.S., but the Florida data, which includes records of siblings and twins, calls this idea into question, the researchers said. (phys.org)
Thanks to these data, the researchers are now examining whether myocilin plays a similar role in the optic nerve. (nih.gov)
Researchers can obtain complementary linked epidemiological data which are not usually collected by a biorepository (e.g., military history, family history, and occupational history). (cdc.gov)
The application, called Gene Prospector, also provides a comprehensive set of links to additional data sources. (cdc.gov)
Gene Prospector provides supporting evidence derived from a curated published literature database [ 6 ] and offers quick links to a variety of data sources. (cdc.gov)

By studying the actual function of NR4R3 in cell cultures, the researchers determined that this gene is important for mitochondrial biogenesis in cells - how well they convert fuel into energy. (sciencenews.dk)
We hypothesized that there must be genes in the bacteria important for invading soft tissues and surviving under the skin. (umd.edu)
For example, some of the genes have significance for how brain cells communicate with each other, while others are important for cognitive functions such as language and learning. (upstate.edu)
Furthermore, by targeting these four genes and therefore four distinct steps within the pathway, the researchers were able to demonstrate that not only the accumulation of 3OH-K as such, but also its location in the cell and hence its availability in further reactions, is important for retinal health. (mpg.de)

How do gene mutations cause cancer? (webmd.com)

When the researchers restricted their analysis to patients ages 50 years and younger, they identified 40 genes linked to breast cancer. (medicalnewstoday.com)
A link between the health of the brain tissue associated with cognitive functioning and the presence of dementia in Down's syndrome patients has been discovered by researchers at Sanders-Brown Center on Aging at the University of Kentucky. (medindia.net)
Later this year Polish patients will have the opportunity to check during diagnostic tests whether they are carriers of the mutated ATRIP gene. (scienceinpoland.pl)
La présente analyse récapitule les facteurs pathologiques majeurs liant l'obésité au diabète, en se concentrant sur les données épidémiologiques actuelles relatives aux patients diabétiques obèses dans le monde arabe, l'étiologie de la maladie et les déterminants génétiques du diabète et de l'obésité. (who.int)
Although the strength of the association was much weaker than its link to carbamazepine -related Stevens-Johnson syndrome and TEN, the US Food and Drug Administration has recommended the avoidance of phenytoin or fosphenytoin as an alternative to carbamazepine in patients who carry the HLA-B*15:02 allele. (medscape.com)

In a melanoma cell line that normally lacks miR-211, the researchers introduced miR-211 expression and then used the BRIC-seq method to investigate transcriptome stability dynamics in the presence/absence of miR-211. (news-medical.net)
Researchers can also investigate how exercise training affects the activity of genes in specific subgroups. (sciencenews.dk)

Researchers have long sought a gene or genes that might be responsible for risk and severity of alcohol dependence. (scripps.edu)
The results showed an association between the gene and alcohol-dependence risk and severity. (scripps.edu)
The one significant new breast cancer susceptibility gene MAP3K1 is estimated to explain 0.14% of breast cancer risk, and all other genes combined [accounted for less than 1% of increased risk]. (medicalnewstoday.com)
Read on to learn more about breast cancer-related genes and how they increase the risk of breast cancer. (medicalnewstoday.com)
Men with these gene changes also have a 7% lifetime risk of developing breast cancer and a higher risk of developing prostate cancer . (medicalnewstoday.com)
A change in this gene increases the risk of Cowden's syndrome. (medicalnewstoday.com)
If a person inherits just one faulty copy of this gene, their risk of developing breast cancer increases. (medicalnewstoday.com)
But it may contribute to a better understanding of the role that breast structure plays in breast cancer risk, the researchers said. (foxnews.com)

Anatomy1

Organisms1

Diseases1

Chemicals and Drugs3

Analytical, Diagnostic and Therapeutic Techniques and Equipment34

Psychiatry and Psychology25

Phenomena and Processes10

Disciplines and Occupations37

Anthropology, Education, Sociology and Social Phenomena40

Technology, Industry, Agriculture3

Humanities19

Information Science69

Named Groups6

Health Care92

Geographicals8

Variants28

Candidate genes7

Proteins11

20232

BRCA1 and BRCA24

Mutation22

BRCA22

Hereditary4

Scientists19

Susceptibility genes2

Hypothesized that mutations1

Genetics9

PALB21

Mice22

Breast cancer genes2

Study49

Expression of ge1

Determine which genes2

Diseases13

Genome-wide3

Found23

Person's7

Lund University2

20211

Five genes1

Chromosome6

Molecules2

Regulate4

Johns Hopkins1

CHEK23

Sequence4

Pathways1

Strongly linked2

RECQL1

STK111

People's1

Humans3

Single gene2

MTOR2

Identify7

Disease22

Genomic5

Biological4

Research18

Mechanistic1

Clinical6

Glaucoma3

Colleagues4

Populations2

Immune system3

Changes in this gene3

Play2

Targets4

Disorders2

People12

Data9

Important4

Mutations cause1

Patients5

Investigate2

Risk8