Genes to identify. Medical search. Frequent questions

In 2015, scientists reported the emergence of the plasmid-encoded mcr-1 gene conferring bacterial resistance to the antibiotic colistin ( 1 ), signaling potential emergence of a pandrug-resistant bacterium. (cdc.gov)
Scientists have identified genes involved in Obsessive Compulsive Disorder (OCD) in dogs. (biomedcentral.com)
The scientists from institutions including the Broad Institute and Uppsala University used a range of techniques to narrow down the regions of the genome involved in OCD to pinpoint four genes which were consistently linked to the disease in a range of dog breeds that are particularly susceptible to OCD - Doberman pinschers, bull terriers, Shetland sheepdogs and German shepherds. (biomedcentral.com)
How scientists and families affected worked to identify the gene responsible for Huntington's Disease. (thenakedscientists.com)
Scientists have recently learned that mutations of the so-called TERT promoter gene, which controls the instructions for making the telomerase enzyme, is involved in some cancer tumors. (medindia.net)
A map of gene shortcuts to simplify the hunt for disease causing genes has been created by scientists. (medindia.net)
Scientists at the University of Liverpool have developed a new method to help researchers identify genes that can help protect the body during the aging process. (science20.com)
We can use these genes as a biomarker - or 'signature' - of ageing so that scientists can help develop products and treatments that help manage the ageing process effectively. (science20.com)
Scientists at the MUHC and McGill University have identified a gene responsible for a disease that impairs the body's ability to handle vitamin B12 and that may contribute to heart disease, stroke and dementia. (biospace.com)
French scientists have identified genetic mutations in a small number of children with autism which could provide insight into the biological basis of the disorder. (worldhealth.net)
Scientists from Princeton University and Uppsala University in Sweden have identified a specific gene that within a year helped spur a permanent physical change in a finch species in response to a drought-induced food shortage. (biologynews.net)
In the new study, scientists led by senior author Leif Andersson, a genomics professor at Uppsala, worked with the Grants -- who have studied natural selection in Darwin's finches for more than 40 years -- to identify the gene that caused the adaptation of the smaller beak. (biologynews.net)
A team of scientists at the Icahn School of Medicine, The Scripps Cancer Research Institute, Albert Einstein College of Medicine, and the New York Structural Biology Center led by Premkumar Reddy, PhD, identified the first small molecule that can simultaneously inhibit the different signaling pathways activated by RAS oncogenes. (oncologynurseadvisor.com)
Scientists may have found a gene for fear - a gene that controls production of a protein in the region of the brain linked with fearful responses. (impactlab.com)
The gene, scientists explain could be a strong candidate for involvement in premenstrual dysphoric disorder (PMDD) and other maladies linked to natural flux in hormones during the menstrual cycle. (healthjockey.com)
The scientists demonstrated that the performance of memory tasks by mice that possessed both the variant and the regular gene depended on their location in their estrous cycles. (healthjockey.com)
For the research, the scientists compared the performance of mice that had the regular BDNF gene and those with BDNF Met. (healthjockey.com)
In the same week that the US Food and Drug Administration (FDA) approved an anti-ageing drug trial for 2016 , marking the first time it's recognised ageing, rather than a specific disease, as a new drug target, scientists in Switzerland have waded through 40,000 genes from three different organisms to identify the genes responsible for physical ageing. (sciencealert.com)
Scientists from the International Agency for Research on Cancer (IARC), working with international partners, have identified new epigenetic changes that are specific to oesophageal cancers in tumour samples from populations in different parts of the world. (who.int)

In this study, three independent microarray studies of CD were integrated and 9912 differentially expressed genes (DEGs) were analysed by NetworkAnalyst to screen candidate crucial genes. (hindawi.com)
For example, four CD-related differentially methylated regions were identified in the whole blood [ 8 ]. (hindawi.com)
Hypergeometric analysis was used to identify canonical pathways and curated networks having statistically significant enrichment of differentially expressed genes. (urotoday.com)
In addition, by analyzing the differentially expressed genes in this study along with genes that are differentially expressed due to other infections from other published studies, the researchers identified a subset of genes that were highly expressed, which have not been previously established for this Lyme-associated inflammatory response. (mountsinai.org)
Differentially expressed genes related to TME were extracted from each infiltration cluster. (jcancer.org)

Researchers could also use the findings to 'identify genes and pathways and biological mechanisms that allow us to understand how breast cancers arise,' Timothy Rebbeck, an epidemiologist at the Dana Farber Cancer Institute, told The Scientist. (axios.com)
Some genes, such as RELA and GADD45B , were predicted to extensively involve these critical pathways, indicating their potential functions in OA mechanisms. (frontiersin.org)
In conclusion, this study identified the significant modules, signaling pathways, and hub genes relevant to OA and highlighted the potential clinical value of anisomycin and MG-262 as novel therapies in OA management. (frontiersin.org)
Some genes we identified are related to sensory pathways - including those for taste, smell, and texture - and may also increase the reward response in the brain," said research team leader Joanne Cole, PhD, assistant professor in the Department of Biomedical Informatics at the University of Colorado School of Medicine. (nutrition.org)
Characterisation of gene expression patterns in bladder cancer allows the identification of pathways involved in its pathogenesis, and may stimulate the development of novel therapies targeting these pathways. (urotoday.com)
The data support an important role for osteopontin in bladder cancer, and identify several pathways worthy of further investigation. (urotoday.com)
This approach may ultimately impact clinical practice by offering a categorical means to identify genetic changes affecting genes and pathways targeted by existing and emerging drugs, thereby speeding the advent of personalized cancer medicine. (ascopost.com)
This is the first time it has been shown that the protein called stathmin - the product of the stathmin gene - is linked to fear conditioning pathways," said Vadim Bolshakov, director of the Cellular Neurobiology Laboratory at Harvard University's McLean Hospital, who also worked on the study. (impactlab.com)

They found an absolutely convicting mutation or variation in the gene which is like a lengthening of a piece of DNA in a particular tract in the gene. (thenakedscientists.com)
It appears that a mutation of the TERT promoter gene essentially creates a constant growth spurt so that the telomeres never shorten, and the cells can divide forever. (medindia.net)
For primary glioblastoma, this is the most frequent genetic mutation yet identified in this tumor. (medindia.net)
That means that if you inherit a gene mutation in a given region, you inherit the entire region, which can carry 10 to 20 genes at a time. (uclahealth.org)
In search of novel painkillers, researchers at Butantan Institute's Special Pain and Signaling Laboratory (LEDS) in São Paulo, Brazil, studied TRPV1, a sensory neuron receptor that captures noxious stimuli, including heat and the burning sensation conveyed by chili peppers, and discovered a potential pain insensitivity mutation in the gene that encodes this protein. (phys.org)
Next, they used the CRISPR/Cas9 gene editing technique to create mice with the mutation K710N, which they had previously found to reduce the receptor's reaction to capsaicin in cells. (phys.org)
We will use a mapping population and bulked segregant analysis, identify markers that are genetically linked to a mutation. (energy.gov)
If you've been a night owl all your life and mornings are your nemesis, you may be able to blame a gene mutation for all those late nights. (neurosciencenews.com)
a mutation in CRY1, a gene that had already been implicated in the circadian cycle. (neurosciencenews.com)
But Young and Patke discovered that the mutation identified in the patient made the CRY1 protein more active than usual, keeping other clock genes switched off for a longer period of time. (neurosciencenews.com)
With a collaborator in Turkey, they first identified many unrelated families and dozens of Turkish people with the CRY1 mutation. (neurosciencenews.com)
Title : Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis Personal Author(s) : Hendrix, Miyono M.;Foster, Stephanie L.;Cordovado, Suzanne K. (cdc.gov)
Gene mutation testing was performed at enrollment. (medscape.com)

Those specific genes proved to be active in early development of the human ovary. (sciencedaily.com)
Though genetic risk factors are known to play a role in HLHS, specific genes have been hard to identify. (upmc.com)
The findings, published online in the journal Nature Genetics , will both help identify women who are at highest risk of developing ovarian cancer and pave the way for identifying new therapies that can target these specific genes. (uclahealth.org)
The study revealed that when we look at the relationship between women's risk of ovarian cancer, as defined by their genetic blueprint, "there is an interplay between their genetics and specific genes that drives the very earliest stages of cancer development," said Gayther, also co-director of the Applied Genomics, Computation and Translational Core at Cedars-Sinai . (uclahealth.org)
The idea of combing through large amounts of data to establish which specific genes drive ovarian cancer development may seem simple, but there are thousands of possible gene targets that can be affected by numerous mechanisms, so putting the pieces together is a huge computational and statistical effort, Gayther said. (uclahealth.org)
This makes it very hard to pinpoint specific genes from specific regions. (uclahealth.org)

Figure 3: Protein locations of private disruptive variants in new candidate NDD risk genes. (nature.com)
NetworkAnalyst identified ELAV-like RNA binding protein 1 (ELAVL1) as the most crucial upregulated gene and amyloid- β precursor protein (APP) as the most crucial downregulated gene in peripheral blood of CD patients. (hindawi.com)
Research has suggested that some genes respond to age-related conditions by increasing key protein levels, allowing the body to manage the ageing process more effectively. (science20.com)
In collaboration with the laboratory of Dr. James Coulton, Department of Microbiology and Immunology at McGill, we used computer modelling to demonstrate the similarity between the protein encoded by the MMACHC gene and a protein involved in bacterial vitamin B12 metabolism. (biospace.com)
One of the four genes highlighted codes for a 'zinc transporter' protein called SLC30A8 which is involved in the control of insulin secretion. (progress.org.uk)
The fourth marker is in a gene that produces a synaptic protein, not surprising, Tanzi notes, since it is known that loss of synapses correlates well with dementia in Alzheimer's. (harvard.edu)
The protein made by CRY1 is normally responsible for suppressing some of these genes during certain parts of the cycle. (neurosciencenews.com)
The genetic study showed promising results in "silencing" the genes that translate into tau protein, the primary component behind dementia. (medicaldaily.com)
The experiments were based in on the gene for a protein which among other activities was also found to work with estrogen. (healthjockey.com)
The top ten hub genes in immune infiltration-related protein-protein interaction (PPI) networks were selected for further prognostic investigation. (jcancer.org)
The next steps in the team's research, he said, are to examine the protein encoded by the gene to determine its role within the cell and potentially identify other proteins that may interact with it. (medscape.com)

They further identified the function of two newly discovered genes: KLF6 and COMMD3. (ou.edu)
In a gene, newly identified mutations that makes cells immortal, plays a pivotal role in three of the most common types of brain tumors as well as cancers of the liver, tongue and urinary tract. (medindia.net)
The newly identified variants are found in large swaths of the population but the risk for breast cancer associated with having just one of the mutations is small compared to that related to mutations in high-risk genes like BCRA1 and BCRA2 , Roger Milne, a cancer epidemiologist involved with both studies, told The Scientist. (axios.com)
The researchers compared the newly identified autism variants to a large dataset of 31,000 families in which one child has been diagnosed with developmental delay and/or other neurodevelopmental conditions. (futurity.org)
They found a great deal of overlap between the newly identified genes and other conditions associated with developmental delay. (futurity.org)
In the short term, Cole is studying the newly identified diet-related genes to better understand their function while also working to identify even more genes that directly influence food preferences. (nutrition.org)
A team of researchers at the UCLA Jonsson Comprehensive Cancer Center, Cedars-Sinai Cancer and Dana-Farber Cancer Institute have newly identified 34 genes that are associated with an increased risk for developing the earliest stages of ovarian cancer. (uclahealth.org)

Using ultra-high resolution cameras and supercomputers, researchers identified the suspect genes by next generation DNA sequencing, essentially by spelling out the billions of bits of information in the genomes of seven women who exhibited SIC following a brain aneurysm. (tgen.org)

The largest genetic analysis to date to investigate the genetics behind autism and other neurodevelopmental conditions reveals 185 genes associated with autism, many for the first time. (futurity.org)
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)
Only over the past five years have we had the tools necessary to identify the full set of genes influencing susceptibility to late-onset Alzheimer's, which probably involves gene-to-gene and gene-to-environment interactions," says Harvard Medical School (HMS) professor of neurology Rudolph Tanzi , director of the MGH-MIND Genetics and Aging Research Unit, who led the study. (harvard.edu)

Recent genome-wide association studies (GWASs) conducted in Asian populations have identified novel risk loci for systemic lupus erythematosus (SLE). (nih.gov)
In conclusion, most of the novel SLE risk loci identified by GWASs in Asian populations were also associated with SLE in Caucasian populations. (nih.gov)
However, we are convinced that we now have identified the two loci with the largest individual effects that have shaped the evolution of beak morphology among the Darwin's finches. (biologynews.net)
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)
The identified quantitative trait loci (QTL) regions overlap with genes known to influence human growth -related traits. (bvsalud.org)

Future work will focus on finding out how these genes communicate with each other to control follicle development, and study their contribution to female infertility, Dr. Castrillon said. (sciencedaily.com)
University of Oklahoma researcher publishes a study identifying 135 previously unknown pigmentation genes with broad implications for human diversity, cell biology and medicine. (ou.edu)
The first step was a genome-wide association study (GWAS) of Doberman pinschers to identify regions of the genome to study. (biomedcentral.com)
Hyun Ji Noh, an author of the paper from the Broad Institute (USA) says: 'The top candidate genes with most case-only mutations in our study are all involved in synapse formation and function. (biomedcentral.com)
This proof of concept study shows that dogs with OCD can be a good model for human OCD, but more study is needed to elucidate whether these genes are involved in human OCD, and to identify ways that these findings can be used to improve treatments. (biomedcentral.com)
However, animals that had mutations with Pcdha9, but not Sap130, can display defects in the aorta, but with normal-sized left ventricles, suggesting interaction between the two genes is needed to cause all the features of HLHS," said Xiaoqin Liu, M.D., Ph.D., the first author of the new study and a research instructor in Lo's lab. (upmc.com)
Study finds an anti-diabetic drug activates an anti-aging gene, and has potential to treat melanoma in older people. (upi.com)
A new study has identified a set of genes that may predict which women are at high risk for breast cancer that is sensitive to estrogen and such women would be helped by taking drugs to prevent it. (medindia.net)
According to a study, food that soon-to-be-moms eat in the days and weeks around the time of conception may affect the functioning of genes in her children, and their health. (medindia.net)
In this study, Roeder focused on the expression of the gene in the developing human neurons . (futurity.org)
In addition, the team found the subset of genes that are more strongly tied to autism show some overlap with genes uncovered in an earlier study of schizophrenia. (futurity.org)
In this study, we employed the weighted gene co-expression network (WGCNA) method and the connectivity map (CMap) database to identify the candidate target genes and potential compounds. (frontiersin.org)
For the study, the researchers used the UK Biobank, which contains data from 500,000 people, to perform a phenome-wide association study (PheWAS) that identified genes more strongly associated with diet than with any health or lifestyle factor. (nutrition.org)
In all three families identified in the study, the researchers found they had various types of mutations in the gene. (worldhealth.net)
Together, the genes could be the most prominent determinants of how Darwin's finches adapt to their environment, said first author of the current study Sangeet Lamichhaney, a doctoral student under Andersson. (biologynews.net)
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)
The present study contributes to a growing body of work on gene expression signatures in bladder cancer. (urotoday.com)
The first family-based genome-wide association study in Alzheimer's disease has identified the sites of four novel genes that may significantly influence risk for the most common late-onset form of the devastating neurological disorder. (harvard.edu)
Adds HMS assistant professor of neurology Lars Bertram , of MGH-MIND, co-lead author of the study, "The emergence of gene chips, which identify markers from the entire genome, along with databases provided by the Human Genome Project and huge advances in genetic analysis give us the means to identify genes that previously would not have been considered candidates. (harvard.edu)
Such family-based genetic studies are more rigorous and reliable in identifying true gene associations than those comparing patients with unrelated controls, explains Christoph Lange , assistant professor of biostatistics at the Harvard School of Public Health (HSPH), the other co-lead author of the study. (harvard.edu)
Summary: A new study reveals those with the 'night owl' variant of the CRY1 gene have longer circadian cycles than other people, making them stay awake for longer at night. (neurosciencenews.com)
Among the gene variants identified in the study as associated with SIC are MYLK2, DSG2, FKTN, and LDB3. (tgen.org)
The study - Rare Variants in Cardiomyopathy Genes Associated with Stress-induced Cardiomyopathy - was published online Nov. 24 in Neurosurgery , the official journal of the Congress of Neurological Surgeons. (tgen.org)
In this proof-of-concept study, 137 potentially actionable genes (encoding approximately 400,000 coding bases) known to undergo somatic alterations in cancer were sequenced from 10 pooled FFPE tumor DNA samples. (ascopost.com)
A study published last year revealed that a gene called ALX1 helps determine beak shape - specifically how sharp or blunt the beak becomes. (iflscience.com)
In this study, we analyzed gene expression of 468 melanoma cases from the TCGA database, which led to the identification of three melanoma clusters (representedby low, median and high infiltration) that display unique immune features. (jcancer.org)
In a study published this month in Nature Communications, Jared Churko, PhD, assistant professor of Cellular and Molecular Medicine at the UA College of Medicine - Tucson, used a systems-based approach encompassing single-cell transcriptomics, single-cell proteomics and CRISPR gene-editing to identify different subpopulations of cardiomyocytes. (azbio.org)
The aberrant DNA methylation markers identified in this study also warrant further functional characterization. (who.int)
Pharmacogenetics is the study of how genes affect the way medicines work in a person. (medlineplus.gov)
It might be possible to develop a simple test to identify newborn children who are at risk of later developing atopic dermatitis (AD), according to findings from a Danish prospective birth cohort study. (medscape.com)
To our knowledge, this study is the first to characterize global gene regulation by a GAS two-component system in response to a specific environmental stimulus. (lu.se)

In collaboration with CDC, the Pennsylvania Department of Health conducted an investigation to guide contact tracing and perirectal swab screening for bacteria with the mcr-1 gene in the patient's household and in two facilities where she had frequent, extensive, and prolonged (≥7 days) interactions with health care personnel. (cdc.gov)
No bacteria with the mcr-1 gene were detected among the 105 persons screened. (cdc.gov)
Perirectal swabs collected on May 31 and June 26 were positive for bacteria with the mcr-1 gene, but a swab collected on August 1 was negative. (cdc.gov)
Health departments are encouraged to rapidly investigate reports of colistin-resistant bacteria to prevent transmission to other patients and thereby decrease the risk for transmitting plasmid-encoded genes to bacteria that might already contain other resistance genes. (cdc.gov)
The technological processes developed and used by the research team could also be applied to identify genes that regulate melanin production in fungi and bacteria. (ou.edu)
Another of the identified markers is in a gene known to cause spinocerebellar ataxia, a movement disorder that involves the death of nerve cells in other parts of the central nervous system, and a third is in a gene involved with the innate immune system, part of the body's defense against bacteria and viruses. (harvard.edu)
A team of researchers has identified how bacteria in fermented foods such as yogurt can help manage stress and prevent depression and anxiety. (medicaldaily.com)
We observed CsrS-dependent regulation of 72 of the 73 genes whose expression changed in response to elevated extracellular Mg(2+) in wild-type bacteria, a result that identifies CsrS as the principal, if not exclusive, sensor for extracellular Mg(2+) in GAS. (lu.se)

It gives us a much more complete list of candidate genes to explore. (sciencedaily.com)
These findings illustrated that ELAVL1 and APP were candidate crucial genes in the peripheral blood of CD patients. (hindawi.com)
Prior to the analyses, EDA2R and WNT10A were already considered candidate genes, based on previous analyses of common variants. (gulfnews.com)
However, HEPH itself has never been considered as a candidate gene. (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)
HEPH, CEPT1, and EIF3F represent highly plausible new candidate genes, given their previously described role in hair development and growth. (gulfnews.com)
This will be followed by combination of position cloning and sequencing candidate genes will be used. (energy.gov)
Multi-trait meta-analyses identify potential candidate genes for growth-related traits in Holstein heifers. (bvsalud.org)

The discovery of gene variants in cases of hereditary spastic dysplasia could provide a diagnosis to affected families where no genetic cause could be found before. (the-scientist.com)
Geneticists Emma Baple and Andrew Crosby previously discovered mutations in more than 15 genes that cause hereditary spastic paraplegia (HSP)-a group of rare inherited disorders characterized by leg muscle weakness and stiffness. (the-scientist.com)
According to a news release from the University of Barcelona, hereditary retinal dystrophies are pathologies affecting more than 20,000 people in Spain and can be caused by more than 200 genes, 70 of which are associated with RP and LCA. (ophthalmologytimes.com)

In addition, CD8 + T cell transcriptional signatures were identified as reliable prognostic biomarkers in the blood of CD patients [ 6 , 7 ]. (hindawi.com)
Further validation showed that five of ten hub genes were good prognostic biomarkers for melanoma in two independent groups from the Gene Expression Omnibus database. (jcancer.org)

For example, network analyses identified HNF4A and PTBP1 as effective biomarkers for Parkinson's disease [ 11 ] and 873 DEGs genetically related to insulin resistance [ 12 ]. (hindawi.com)
These genes could potentially be used as biomarkers to diagnose patients with the condition, which is otherwise difficult to diagnose and treat. (mountsinai.org)
Image above: Researchers at Icahn Mount Sinai in New York identified 35 genes that could be used as biomarkers to potentially diagnose patients with long-term Lyme disease (LTLD). (mountsinai.org)
However, additional advances in melanoma immuno-oncology are necessary to achieve a comprehensive knowledge of the immune infiltrate population and to identify accurate and readily measurable biomarkers. (jcancer.org)
We are able to identify predictive immune biomarkers of atopic dermatitis using a noninvasive method that was not associated with any pain," one of the study's investigators, Anne-Sofie Halling, MD, said at a press briefing at the European Academy of Dermatology and Venereology (EADV) 2022 Annual Meeting. (medscape.com)

Thus, we integrated three independent microarray studies to screen crucial genes in the blood of CD patients. (hindawi.com)
Furthermore, GSEA data show that NOD-like receptor signaling-associated gene signatures are enriched and the xCell analysis indicated that most T cells are significantly decreased in the three microarray studies, which could help in understanding the role of ELAVL1 and APP in the blood of CD patients. (hindawi.com)
Dr Joao Pedro Magalhaes, from the University's School of Biological Sciences, explains: "We developed a new algorithm to analyse microarray data of genes from different species, and combined data from multiple studies to obtain a picture of how genes respond to ageing in a whole organism. (science20.com)

By putting these two pieces of information together, the researchers were able to distinguish which genes in the genomes are actually the risk genes. (uclahealth.org)

Molecular analysis showed that heart cells in affected animals were poorly developed and had mitochondrial defects, indicating that Sap130-Pcdha9 gene interactions play a crucial role not only in heart development but also in regulating metabolic function of the cardiac muscle. (upmc.com)
The researchers are investigating other mutations identified through the genetic screen and plan to undertake more genetic analysis of HLHS patients to better understand the molecular and genetic factors that cause the disease. (upmc.com)
Now we can use these genes to identify molecular markers for breeding enhanced resistance into modern barley . (phys.org)
If we know that a gene encoding an olfactory receptor in the nose increases a person's liking of fruit and boosts the reward response in the brain, then molecular studies of this receptor could be used to identify natural or synthetic compounds that bind to it," Cole said. (nutrition.org)

Because some of these genes may have clear paths toward influencing whether someone likes a food or not, they could potentially be used to create sensory genetic profiles for fine-tuning a person's dietary recommendations based on foods they like to eat. (nutrition.org)
A team based at University College London (UCL) says that carrying two copies of the TCF7L2 gene variant increases a person's risk of. (progress.org.uk)
Precision medicine uses information about a person's genes, environment, and lifestyle to help diagnose, prevent, and treat illness specifically for that person. (medlineplus.gov)

The new method could help further understanding into anti-aging interventions by identifying genes that indicate biological changes as a result of ageing. (science20.com)
Now that we have this list of high-confidence genes, we can take it to the functional modeling stage to explore the biological mechanisms that underlie the features of autism," says Harrison Brand. (futurity.org)
Our data show that beak morphology is affected by many genes as is the case for most biological traits," said Lamichhaney, who also was first author of the 2015 paper. (biologynews.net)
Researchers at The Rockefeller University have discovered that a variant of the gene CRY1 slows the internal biological clock - called the circadian clock - that normally dictates when you feel sleepy each night and when you're ready to wake. (neurosciencenews.com)

Synaptic, transcriptional and chromatin genes disrupted in autism. (nature.com)

Using CRISPR-Cas9 gene editing in mice, the researchers confirmed that mutations in these two genes can cause HLHS. (upmc.com)

With these findings we are beginning to understand how these genes and genetic variations exert their effects during neurodevelopment," says co-senior author Kathryn Roeder, professor of statistics and life sciences in the statistics and data science department at Carnegie Mellon University. (futurity.org)
These findings could hopefully be used to help identify children "so that preventive strategies can target these children. (medscape.com)
We now confirm those findings, as complementation of a csrS mutant restored Mg(2+)-dependent gene regulation. (lu.se)

Researchers have found nearly 350 genes related to female fertility. (sciencedaily.com)
They found 348 genes that were active in ovaries in the mice lacking Foxo3, but not in other tissues, indicating that they could function specifically in follicle growth. (sciencedaily.com)
The researchers found 169 functionally diverse genes that impacted melanin production. (ou.edu)
We looked at several DNA sequence variations within the dysbindin gene and found one of them to be significantly associated with lower general cognitive ability in carriers of the risk variant compared with non-carriers in two independent groups. (scienceblog.com)
Interestingly, HLHS was found only in animals with mutations in both genes. (upmc.com)
Additionally, they sequenced 68 HLHS patient samples and found one individual with rare mutations in both SAP130 and PCDHA genes. (upmc.com)
Feb. 23 (UPI) -- Researchers at The Wistar Institute in Philadelphia have found an anti-diabetic drug activates an anti-aging gene that can inhibit growth of melanoma in older patients. (upi.com)
We found that some genes - previously unconnected with ageing - become more abundant with age to help protect the body. (science20.com)
They sequenced a gene called SHANK3 in more than 200 people with autism spectrum disorders (ASD), which includes autism, and found mutations in the gene in members of three families. (worldhealth.net)
The researchers found that the HMGA2 gene comes in two forms: one is common in finches with small beaks, while the other is common in finches with large beaks. (biologynews.net)
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)
That analysis found five markers exhibiting genetic association with Alzheimer's, one of which corresponds to the gene for APOE, the only gene firmly established to increase risk for late-onset Alzheimer's. (harvard.edu)
In the case of the citrus fruit, it was found that the citrus' vacuole fluid is extremely acidic due to CitPH1 and CitPH5 genes . (isaaa.org)
Combined with RNA sequencing data from 72 patients with acute Lyme disease and 44 uninfected controls, the investigators observed differences in gene expression and found that most of the post-treatment Lyme disease patients had a distinctive inflammatory signature compared with the acute Lyme disease group. (mountsinai.org)
They appeared to have found that the variant gene overall produced more BDNF in addition to the cell receptor for BDNF, called TrkB. (healthjockey.com)
After identifying the area in the animal model's genome where the potential error occurred, the researchers ultimately found a single defective gene. (medscape.com)
The team found that seven alterations affecting three genes could identify tumours with high sensitivity and specificity. (who.int)
The mutations in pachyonychia congenita are found in the genes encoding keratin 6A (KRT6A), keratin 16 (KRT16), keratin 6B (KRT6B), and keratin 17 (KRT17). (medscape.com)

These discoveries might lead the way to eventually allowing clinicians to test whether an infertile woman has problems with a specific gene, allowing for improved diagnostic tests and tailored therapy in the future, said Dr. Castrillon, a specialist in the diagnosis of infertility and other diseases of women. (sciencedaily.com)
Some medicines targeting the relevant genes are already in use, but for other diseases. (eurekalert.org)
By targeting these new melanin genes, we could also develop melanin-modifying drugs for vitiligo and other pigmentation diseases. (ou.edu)
Researchers could develop effective interventions against these microbes and their diseases by discovering and targeting such melanin-producing genes. (ou.edu)
More than 80 mutated genes have been identified in HSPs, making this one of the most genetically heterogenous inherited diseases. (the-scientist.com)

Based on the single-trait GWAS, we identified 170 significant single nucleotide polymorphisms ( SNPs ), in which 59 of them remained significant after the COJO analyses. (bvsalud.org)

Aug. 2, 2021 Not every gene that's essential in tuberculosis is also vulnerable to attack. (sciencedaily.com)

Analysis of these mice with HLHS allowed us to identify for the first time two genes interacting in combination to cause HLHS," said Cecilia Lo, Ph.D., professor at Pitt's School of Medicine who also holds the F. Sargent Cheever Chair in Developmental Biology. (upmc.com)
By comparing the genome of mice with the HLHS heart defects to the genome of normal mice, Lo and her team identified several hundred mutations in the HLHS mutant strains. (upmc.com)
Further analysis of these mutant mice indicated the genetic origins of HLHS likely involve many interacting genes. (upmc.com)
So, if you remove the gene in mice and they don't develop past day 7. (thenakedscientists.com)
As per the researchers, detail experiments in mice appeared to have demonstrated the workings of a common variant of the particular gene. (healthjockey.com)
In addition to this, the researchers also exhibited that mice that had the variant gene were more skittish. (healthjockey.com)
The researchers started off with a selection of 40,000 genes that are common to the nematode worm C. elegans, zebra fish, and mice. (sciencealert.com)
They also discovered that these genes were orthologous - meaning they're very closely related to each other, and all originated from a single gene of the last common ancestor shared by C. elegans , zebra fish, and mice. (sciencealert.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 CRISPR, we systematically removed more than 20,000 genes from hundreds of millions of melanocytes and observed the impact on melanin production. (ou.edu)
CRISPR gene editing is a technology for modifying an organism's DNA code at the single-cell level. (azbio.org)

The focus of this proposal is to identify and characterize new genes controlling feruloylation in grasses, as well as new genes that are responsible for the assembly of lignin into the cell wall and for biomass conversion. (energy.gov)

The urine culture and subsequent testing identified the gene in an extended-spectrum beta-lactamase (ESBL)-producing E. coli with reduced susceptibility to colistin. (cdc.gov)
Four genes showed a high number of mutations linked with OCD susceptibility, CDH2, PGCP, ATXN1 and CTNNA2 , suggesting that these genes might be involved in causing the disorder. (biomedcentral.com)
Published in two separate papers in the journal New Phytologist , the researchers showed that by 'silencing' these genes, there was lower accumulation of callose and cellulose in the plant cell walls , and higher susceptibility of barley plants to the fungus. (phys.org)

The team identified 185 genes that are significantly associated with autism. (futurity.org)

The subtraction method is a quick and economical technique to scan differential gene expression. (nih.gov)
To help identify the genes in these particular regions, the team compared the large-scale genetic data from the Ovarian Cancer Association Consortium with a different data type that describes the expression of genes in ovarian and other tissues. (uclahealth.org)
Unsupervised hierarchical clustering was used to identify samples with similar expression profiles. (urotoday.com)
A gene panel that measures the expression of genes the investigators identified could be developed as a diagnostic. (mountsinai.org)
A gene panel that measures the expression of the genes the investigators identified could be developed as a diagnostic to test for Lyme. (mountsinai.org)
To test their effects, the researchers modified the messenger RNA (mRNA) that codes for these genes so they could selectively block their expression. (sciencealert.com)
The effect of Mg(2+) on regulation of global gene expression was evaluated using genomic microarrays in an M-type 3 strain of GAS and in an isogenic csrS mutant. (lu.se)

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. (nature.com)
This approach generated large volumes of data that were analyzed using cloud-based computing to identify changes that could be associated to genetic variations linked to autism. (futurity.org)
Conversely, autism-related genes tend to play a role in more mature neurons. (futurity.org)
A girl with a deletion of SHANK 3 in the third family suffered from autism while her brother, who had an additional copy of the gene, had a mild form of autism called Asperger syndrome. (worldhealth.net)

Using a type of artificial intelligence called machine learning, the researchers further reduced the group of genes to establish an mRNA biomarker set capable of distinguishing healthy patients from those with acute or post-treatment Lyme disease. (mountsinai.org)

Our current focus is to use the information from our studies with rigosertib to design the next generation of small molecule RAS-targeting therapies, and we are excited to have recently identified several compounds which we think improve on the qualities of rigosertib. (oncologynurseadvisor.com)

Functional annotations revealed that these genes were mainly related to immune system activation and the processes of immunoreaction. (jcancer.org)

These genes control your body's response to medicines. (medlineplus.gov)

The researchers identified HMGA2's role by screening the genomes of medium ground finches that survived or died during the drought until they located the locus, or gene position, that had a major effect on beak size. (biologynews.net)

The variations resulted from the loss of one copy of a gene, the change in the spelling of a gene, or duplicate copies that could all alter a gene's function. (futurity.org)

To pinpoint the genes, the researchers analyzed patient data to try to find genetic variants in the DNA blueprint that explain the patient disease status. (uclahealth.org)

Environmental change coupled with the gene HMGA2 drove the rapid evolution of a smaller overall beak size in the medium ground finch (Geospiza fortis) that inhabits Daphne Major in the Galápagos Islands. (biologynews.net)
Now we have demonstrated that HMGA2 played a critical role in this evolutionary shift and that the natural selection acting on this gene during the drought is one of the highest yet recorded in nature. (biologynews.net)
In that same way, the drought of 2004-06 "consumed" the HMGA2 gene for large beaks by killing off the large-beaked birds, leaving the HMGA2 gene for small beaks behind to proliferate and ensure that future generations of G. fortis will have smaller beaks. (biologynews.net)
The identification of HMGA2 as the determinant of beak size builds on 2015 research the Grants and Andersson's group published in the journal Nature that singled out the gene ALX1 as the one that most influences beak shape, such as if a finch's beak is pointed or blunt. (biologynews.net)
The gene HMGA2 is not limited to finches, Andersson explained. (biologynews.net)
After sequencing a total of 60 birds from six different species - the small, medium, and large ground finches, and the small, medium, and large tree finches - the team identified a gene of interest: HMGA2. (iflscience.com)

The results, published in the journal Genome Biology , identify four genes strongly linked with canine OCD, and suggests that using dogs as a simplified model of the human condition might open up new avenues for research into the more complex human OCD. (biomedcentral.com)
The great challenge the researchers faced was dealing with the number of genes that are in one region of the genome, Pasaniuc said. (uclahealth.org)
Mapping in the five families, all of whom met strict clinical diagnostic criteria for MKS (which included posterior occipital encephalocele, bilateral renal cystic dysplasia, and hepatic developmental defects), highlighted the corresponding area in the human genome and testing the equivalent to the rat gene identified the defect in Meckel-Gruber syndrome type 3 (MKS3). (medscape.com)

But the Duke-led research team also identified nine tumor types highly associated with TERT promoter mutations. (medindia.net)
An international research team has identified two genes which could help protect barley against powdery mildew attack. (phys.org)
The team developed a method of analysing genes in multiple ageing tissue types in both animals and humans. (science20.com)
Through this computational technique, the team identified 34 genes that are associated with an increased risk for developing ovarian cancer. (uclahealth.org)
People with the "night owl" variant of this gene have a longer circadian cycle than most, making them stay awake later, the team reported April 6 in Cell . (neurosciencenews.com)
The team from ETH Zurich also discovered that when these genes are altered, the healthy lifespan of laboratory animals could be extended, offering up the possibility of achieving something similar in humans. (sciencealert.com)
A research team led by Jared Churko, PhD, director of the University of Arizona iPSC Core in the UA Sarver Heart Center, used a transcriptomic approach - studying what genes are expressed - to identify gene signatures of cell subpopulations identified as atrial-like or ventricular-like. (azbio.org)
His team identified VKORC1 gene variants to play a major role in determining the warfarin dosage, a widely prescribed anticoagulant. (wikipedia.org)
His team also discovered genetic links to the incidence of type 2 diabetes, the strong association of the gene HLA-B*15:02 with carbamazepine, a drug used to treat epilepsy, and that of the gene HLA-B*58:01 with allopurinol, a widely prescribed drug for gout, to induce Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). (wikipedia.org)

Understanding the gene signatures of different populations of hiPSC-CMs will impact our understanding of how to use such cells to discover drugs, model heart disease and repair a damaged heart," Dr. Churko explained. (azbio.org)

This allowed the researchers to test individual genetic variants for associations with thousands of traits and then eliminate indirect gene variants that were more strongly associated with other factors, such as diabetes. (nutrition.org)

PheWAS studies are used to find associations between gene variants of interest and a spectrum of human traits and behaviors, including dietary intake. (nutrition.org)

Hannah - Back to Russell to find out how this collaboration resulted in the successful identification of the gene involved in Huntington's disease. (thenakedscientists.com)
Again, there's a lot of variability with what convicted this gene is, the gene that causes Huntington's disease. (thenakedscientists.com)
This gene also is in the general vicinity of the presenilin-1 gene, which we know is an early-onset Alzheimer's disease gene. (harvard.edu)
Researchers at the Icahn School of Medicine at Mount Sinai in New York have identified 35 genes that are particularly highly expressed in people with long-term Lyme disease. (mountsinai.org)
PHOENIX, Ariz. - Nov. 30, 2015 - Researchers at the Translational Genomics Research Institute (TGen) and Barrow Neurological Institute have for the first time identified genetic risk factors that are linked to stress-induced cardiomyopathy (SIC), a rare type of heart disease. (tgen.org)
We have identified a series of rare genetic changes associated with this disease that may be used for early identification of patients at risk. (tgen.org)

They discovered that the dysbindin-1 gene (DTNBP1), which they previously demonstrated to be associated with schizophrenia, may also be linked to general cognitive ability. (scienceblog.com)
We identified ELAVL1 and APP, previously implicated in regulating the activation of innate immunity [ 13 , 14 ] and T cells [ 15 ], the most significant up- and downregulated genes. (hindawi.com)
They also confirmed a link with a gene called TCF7L2 which has been associated with type 2 diabetes previously. (progress.org.uk)
Moreover, we present strong evidence that Mg(2+) signals through CsrS to regulate an extensive and previously undefined repertoire of GAS genes. (lu.se)

Scientists19

Differentially5

Pathways8

Mutation13

Specific genes6

Protein11

Newly7

Suspect genes1

Genetics3

Loci5

Study32

Bacteria8

Candidate8

Hereditary3

Prognostic biomarkers2

Biomarkers5

Microarray3

Risk genes1

Molecular4

Person's3

Biological4

Disrupted in autism1

Confirmed that mutations1

Findings3

Found18

Diseases5

Single nucleotide po1

20211

Mice8

Geneticists1

CRISPR2

Characterize1

Susceptibility3

Significantly1

Expression7

Autism4

MRNA1

Compounds1

Functional1

Body's1

Genomes1

Variations1

Pinpoint1

HMGA26

Genome3

Team9

Signatures1

Strongly1

Traits1

Disease6

Previously4