• In particular, the investigators reported that siblings with autism had, on average, 0.06 de novo loss-of-function, 0.21 de novo nonsynonymous damaging, and 10.74 inherited rare damaging mutations in essential genes. (genomeweb.com)
  • In a study of more than 5,000 Kenyan children, Edinburgh researchers with colleagues from Oxford, Kenya and Mali examined two variations, or mutations - known as Sl2 and McCb - in a gene called CR1. (ed.ac.uk)
  • We identified truncating mutations in distinct X-linked gamma-aminobutyric acid A (GABAA) receptor subunit-encoding genes, GABRQ and GABRA3, in two different families. (nih.gov)
  • While genes from the GABAergic pathway have previously been thought to be involved in the pathophysiology of ASD, this is the first report of ASD patients with truncating mutations in GABA receptors genes. (nih.gov)
  • Compared to other mutations that have been linked to sleep disorders in just single families worldwide, this is a fairly impactful genetic change," says senior author Michael W. Young, the Richard and Jeanne Fisher Professor and head of Rockefeller's Laboratory of Genetics. (neurosciencenews.com)
  • To find out whether mutations in any known circadian genes were linked to DSPD, Young- - along with research associate Alina Patke, the first and co-corresponding author of the new paper - collaborated with sleep researchers at Weill Cornell Medical College. (neurosciencenews.com)
  • Variants (also called mutations) in the BTK gene cause XLA. (medlineplus.gov)
  • The two conditions sometimes co-occur , and spontaneous mutations linked to OCD often appear in genes associated with Tourette syndrome and autism, including CHD8 , Fernandez found last year. (spectrumnews.org)
  • Several HCFC1 gene variants (also known as mutations) have been identified in people with methylmalonic acidemia with homocystinuria, cblX type, which is one form of a disorder that causes developmental delay, eye defects, neurological problems, and blood abnormalities. (medlineplus.gov)
  • Mutations in ion channel genes have been identified as a common cause of IGE. (hindawi.com)
  • Achondrogenesis results from mutations in the TRIP11 (ACGIA), SLC26A2 (ACGIB), and COL2A1 (ACGII) genes, with achondrogenesis types IA and IB being autosomal recessive conditions and achondrogenesis type II most often being sporadic. (medscape.com)
  • Classification of type IB as a separate group has been confirmed by the discovery of its association with mutations in the diastrophic dysplasia sulfate transporter ( DDST ) gene, making it allelic with diastrophic dysplasia. (medscape.com)
  • However, variants with specific mutations that affect the way the virus behaves are now considered either Variants of Interest (VOI) or Variants of Concern (VOC) with respect to public health implications (1). (who.int)
  • Some mutations in the S gene may lead to changes in the spike protein which result in inhibition of contact and entry of the virus into human cells, however in the case of the VOC, they contain mutations in the S gene that enhance the process of contact and entry into human cells, increasing transmissibility of the virus. (who.int)
  • Each variant will have characteristic mutations or a group of mutations that is/are unique to that particular variant. (who.int)
  • Currently, manufacturers are focusing on and targeting assays to mutations in the S gene. (who.int)
  • Common genetic abnormalities, particularly among whites, include Factor V Leiden and prothrombin gene 20210A mutations. (medscape.com)
  • However, systematic analyses of rare variants have been lacking. (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)
  • 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)
  • It's possible the overlap between autism and OCD lies more in rare variants - the target of Fernandez's study - than in the common ones examined in the new work, he says. (spectrumnews.org)
  • A vast majority of known causative genes are highly expressed in the brain and involved in different biological functions and pathways [ 7 ]. (biomedcentral.com)
  • Four of XLID- associated genes involved in neuronal signaling pathways are L1CAM, ZDHHC9, GLRA2 , and ATP2B3 . (biomedcentral.com)
  • And the genes we found point to interesting pathways that seem to be involved in brain development, vascular and neurodegenerative disease, and some psychiatric conditions. (sciencedaily.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 better understanding of which genes and pathways contribute to each condition may ultimately point to new treatment targets, she says. (spectrumnews.org)
  • In addition, we discuss reports on the interactions of OXT and AVP receptor genes and genes involved in other pathways (such as those of dopamine, serotonin, and reelin), as well as research that has shed some light on the impact of gene polymorphisms on the volume, connectivity, and activation of specific neural structures, differential receptor expression, and plasma levels of the OXT and AVP peptides. (frontiersin.org)
  • This suggested to the researchers that, in people with autism, deleterious variants in essential genes affect social skills in males, while deleterious variants in both essential and non-essential genes affect IQ. (genomeweb.com)
  • This study investigated four families with severe XLID to identify deleterious variants for possible diagnostics and prevention aims. (biomedcentral.com)
  • In three of four families, novel deleterious variants have been identified in three different genes, including ZDHHC9 ( p. (biomedcentral.com)
  • The current study's findings expand the existing knowledge of variants of the genes implicated in XLID and broaden the spectrum of phenotypes associated with the related conditions. (biomedcentral.com)
  • It would expand the existing knowledge of XLID and the spectrum of phenotypes associated with the identified variants. (biomedcentral.com)
  • Despite their commonness in humans, determining which missense variants affect phenotypes and how remains a challenge. (springer.com)
  • These genes shed some further light into what causes these neurodevelopmental phenotypes. (spectrumnews.org)
  • Voltage-gated and ligand-gated are key ion channel genes that have been linked to distinct epilepsy phenotypes [ 9 ]. (hindawi.com)
  • From these three modules, the researchers uncovered 974 essential genes that are co-expressed with known autism candidate genes. (genomeweb.com)
  • Prior to the analyses, EDA2R and WNT10A were already considered candidate genes, based on previous analyses of common variants. (gulfnews.com)
  • HEPH, CEPT1, and EIF3F represent highly plausible new candidate genes, given their previously described role in hair development and growth. (gulfnews.com)
  • We hope that this effort will be helpful for understanding the studies performed so far, and for encouraging the inclusion of other candidate genes not explored to date. (frontiersin.org)
  • At the same time, they found that mutation burden overall - in both essential and non-essential genes - was associated with lower verbal and nonverbal IQ scores. (genomeweb.com)
  • Scientists also revealed that the impact of both gene variations is linked to whether or not individuals carry a third genetic mutation. (ed.ac.uk)
  • By studying the complex relationships between the gene variants, researchers found that the Sl2 mutation in the CR1 gene protects against cerebral malaria and death - but only if children did not carry a third gene mutation, known as alpha-thalassaemia. (ed.ac.uk)
  • The other mutation in CR1, known as McCb, was found to be linked to increased risk of cerebral malaria and death, but to lower the risk of childhood diseases such as respiratory and gastrointestinal infections. (ed.ac.uk)
  • 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)
  • A) gene mutation and deficiencies in protein S, protein C, and antithrombin accounting for most of the remaining cases. (medscape.com)
  • Wuhan strain will continue to arise, yet not all viral variants generated through mutation of the virus are important or have immediate public health relevance. (who.int)
  • [ 15 ] These associations highlight the idea that in many individuals, the presence of a genetic variant alone is insufficient to produce VTE, but that when this mutation is combined with a transient, acquired risk factor, it becomes a pathologic substrate. (medscape.com)
  • The gene codes for a protein, complement factor H (CFH), that is involved in controlling one part of the immune system. (ophthalmologytimes.com)
  • The ZDHHC9 gene (MIM No. 300646) encodes a palmitoyl-transferase that adds palmitate onto various protein substrates. (biomedcentral.com)
  • Furthermore, missense and silent variants in nuclear RNA export factor 5 and histone deacetylase 6 were shown to partially disrupt the protein. (nih.gov)
  • Nonetheless, the association signal primarily arises from de novo protein-truncating variants, as opposed to the more common missense variants. (springer.com)
  • We investigate the functional relevance of de novo missense variants, specifically whether they are likely to disrupt protein interactions, and nominate novel genes in risk for ASD through integrated genomic, transcriptomic, and proteomic analyses. (springer.com)
  • Utilizing our previous interactome perturbation predictor, we identify a set of missense variants that are likely disruptive to protein-protein interactions. (springer.com)
  • Finally, we integrate protein interactions and cell-type-specific co-expression networks together with published association data to implicate novel genes in ASD risk in a cell-type-specific manner. (springer.com)
  • Extending earlier work, we show that de novo missense variants that disrupt protein interactions are enriched in individuals with ASD, often affecting hub proteins and disrupting hub interactions. (springer.com)
  • Consistent with other studies, genes identified by disrupted protein interactions are expressed early in development and in excitatory and inhibitory neuronal lineages. (springer.com)
  • Disrupted protein interactions identify gene sets involved in risk for ASD. (springer.com)
  • The evidence, however, largely comes from protein-truncating variants (PTVs) as opposed to de novo missense (dnMis) variants. (springer.com)
  • Using the newly released and larger ASC dataset, we confirm these observations and take them in several new directions: (1) By defining a set of genes encoding these disrupted protein interactors in ASD subjects and another for their siblings, we evaluate their expression patterns in developing brain from fetal to early postnatal development and within general cell types of brain tissue. (springer.com)
  • The protein made by CRY1 is normally responsible for suppressing some of these genes during certain parts of the cycle. (neurosciencenews.com)
  • This gene provides instructions for making the BTK protein, which is important for the development of B cells and normal functioning of the immune system. (medlineplus.gov)
  • Most variants in the BTK gene prevent the production of any BTK protein. (medlineplus.gov)
  • The HCFC1 gene provides instructions for making a protein, called HCF-1, that helps regulate the activity of other genes. (medlineplus.gov)
  • One of several functions of the HCF-1 protein is to control the activity of a gene called MMACHC that is involved in the processing of vitamin B12 (also known as cobalamin). (medlineplus.gov)
  • These variants occur in regions of the protein that help it to interact with other proteins. (medlineplus.gov)
  • Neurological and developmental problems are especially severe in individuals with cblX type, in part due to disruption of the activity of other genes normally regulated by the HCF-1 protein. (medlineplus.gov)
  • The HCFC1 gene variants lead to production of an HCF-1 protein with reduced function. (medlineplus.gov)
  • The viral S gene is important as it codes for the Spike protein which is the molecule that makes contact with, and allows entry of the virus into susceptible host cells, causing infection. (who.int)
  • The S gene is one of the structural genes of the virus which encodes for a protein that sits on the surface of the SARS CoV-2 virus. (who.int)
  • This protein is a critical in the linking of the virus to a host cell it can infect. (who.int)
  • Additionally, some abnormalities are found in gene loci antithrombin, protein C, and protein S. (medscape.com)
  • In the male siblings with autism, the researchers found that mutational burden in essential genes was positively correlated with their raw SRS scores. (genomeweb.com)
  • Most essential genes, the researchers found, were expressed early in development, while non-essential genes were expressed later on. (genomeweb.com)
  • In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms. (genomeweb.com)
  • Using tissue biopsies taken from the thigh muscles of 14 volunteers, who did not exercise frequently, before and 20 minutes after intense exercise, the researchers found a partial demethylation of three genes. (progress.org.uk)
  • The newly identified variants tend to occur in genes that are highly expressed in the brain, the researchers found, including in the hypothalamus and the pituitary and adrenal glands. (spectrumnews.org)
  • A previous study by the same researchers found that people with the short variant of 5-HTTLPR were more sensitive to the tenor of their spouse's positive and negative emotions, suggesting that DNA is linked to marital satisfaction. (universityofcalifornia.edu)
  • 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)
  • Genetic variants in the ABO blood-type loci have also been associated with an increased risk of VTE. (medscape.com)
  • 10-6) loci were functionally annotated to 18 target genes, including four genes linked to neuropathic pain processes or musculoskeletal development. (cdc.gov)
  • A recent study published in Cardiovascular Research suggests that LAV-BPIFB4 , a gene variant that previous research ha shown to be highly expressed by individuals with an exceptionally long lifespan, could also protect cardiac and vascular function in old age. (medicalnewstoday.com)
  • GABRG2 , a highly expressed gene in brain, resides on chromosome 5q34. (hindawi.com)
  • We also demonstrate that the benefit is related to the ability of the gene to reprogram cardiac cells to become more resistant to stress and build up the machinery ( ribosomes ) that make proteins. (medicalnewstoday.com)
  • Genes encoding disrupted complementary interactors tend to be risk genes, and an interaction network built from these proteins is enriched for ASD proteins. (springer.com)
  • The menin-PRMT5 complex binds to the promoter of the Gas1 gene, where PRMT5 (an enzyme that adds methyl groups to histone proteins) functions as an epigenetic inhibitor, tamping down gene transcription. (medindia.net)
  • Significantly, Hua's team found that menin mutant proteins associated with MEN1 cancer in patients were impaired in their ability to interact with PRMT5, and thus, in adding the methyl chemical group to the Gas1 promoter gene. (medindia.net)
  • Methlylation, which is used to slow down or turn off gene production at specific times, is most commonly found in genes that produce proteins known as transcription factors. (progress.org.uk)
  • These proteins control the expression of a number of other genes in the cell. (progress.org.uk)
  • HCF-1 interacts with proteins called transcription factors, which attach (bind) to specific regions of DNA and help control the activity of particular genes. (medlineplus.gov)
  • Genes for proteins interacting with other hormones may have a greater effect. (cdc.gov)
  • However, even though all cells in the human body contain the same DNA, they "express" different genes to fulfill different functions. (mpg.de)
  • Bućan and her colleagues noted that a number of these essential genes have been associated with autism. (genomeweb.com)
  • We now see that essential genes are much more likely to be associated with autism than non-essential genes. (genomeweb.com)
  • In 2019, researchers from the Psychiatric Genomics Consortium linked variants associated with autism to seven neuropsychiatric conditions , including anorexia , bipolar disorder and schizophrenia . (spectrumnews.org)
  • In this report, we evaluated the impact of these rare missense and silent variants on gene splicing. (nih.gov)
  • These missense variants are uncommon, 8.3% of all missense variants given a score. (springer.com)
  • Key genetic variants, including 1 known to reduce drug clearance, show a strong association with potentially severe skin reactions that can occur with use of the antiepileptic drug phenytoin , a new study shows. (medscape.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)
  • In females (who have two X chromosomes), a variant would have to occur in both copies of the gene to cause the disorder. (medlineplus.gov)
  • The thickness of the cerebral cortex is correlated with the epigenetic profile of immune-related genes. (unibas.ch)
  • It also showed that it is specifically those genes that are responsible for the regulation of important immune functions in the blood that explain the link between the epigenetic profile and the properties of the brain. (unibas.ch)
  • Epigenetic modifications such as the addition of chemical groups to histones lead to changes in chromatin organization, which can trigger either gene activation ("expression") or gene silencing. (mpg.de)
  • This epigenetic reset allows all genes to be read afresh for each new individual. (mpg.de)
  • H4K16ac is an epigenetic modification that is typically associated with the activation of genes. (mpg.de)
  • 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)
  • Schizophrenia is also strongly associated with a number of genes , and a recent genome-wide association study identified a single nucleotide polymorphism in ZNF804A as particularly important. (dnalc.org)
  • Recently, the first common genetic variant associated on a genome-wide level with schizophrenia and possibly bipolar disorder was discovered in ZNF804A (rs1344706). (dnalc.org)
  • [ 4 ] There have been a variety of investigations into the genetic determinants of VTE, ranging from candidate gene studies to genome-wide association studies. (medscape.com)
  • Gene regulation in the human genome is controlled by distal enhancers that activate specific nearby promoters 1 . (nature.com)
  • Together, this systematic assessment of enhancer-promoter compatibility suggests a multiplicative model tuned by enhancer and promoter class to control gene transcription in the human genome. (nature.com)
  • The researchers also identified seven regions of the genome and 18 genes that harbor variants tied to autism, ADHD and Tourette syndrome, most of which were missed in the 2019 analysis. (spectrumnews.org)
  • Current diagnostic PCR assays target a variety of SARS CoV-2 genes and the vast majority target sequences in regions of the SARS CoV-2 genome that are highly conserved. (who.int)
  • The L1CAM gene (MIM No. 308840) encodes a neural cell adhesion molecule involved in cell adhesion dynamics and the generation of transmembrane signals at tyrosine kinase receptors. (biomedcentral.com)
  • Two studies have identified a genetic variant in GP6 , a gene that encodes the platelet collagen receptor, that confers an increased risk of VTE. (medscape.com)
  • Previous studies by several groups have suggested that a gene in a particular part of chromosome 1 is linked to the chance of getting AMD, said Kang Zhang, MD, PhD, of the University of Utah Moran Eye Center, one of the senior authors of a report on the genetic studies published by the Public Library of Science, who led the University of Utah team. (ophthalmologytimes.com)
  • ID has a prevalence of about 2-3% of global populations, and males exceed females by 20-30%, likely due to an enrichment of genes on the X-chromosome that are required for the neurodevelopment and the genetic imbalances in X-chromosomes. (biomedcentral.com)
  • The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. (medlineplus.gov)
  • In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. (medlineplus.gov)
  • TCF7L2 was discovered as a type 2 diabetes susceptibility gene after a strong linkage signal was mapped to chromosome 10q in a Mexican-American population. (medscape.com)
  • NEW YORK (GenomeWeb) - Genes that are essential for survival and development harbor an increased burden of variants in people with autism spectrum disorder, according to researchers from the University of Pennsylvania. (genomeweb.com)
  • Researchers led by UPenn's Maja Bućan compared the complement of variants in essential genes in patients with autism and their unaffected siblings. (genomeweb.com)
  • As they reported today in the Proceedings of the National Academy of Sciences , the investigators found that patients with autism had an elevated amount of damaging variants in essential genes and they linked these variants to decreased social skills. (genomeweb.com)
  • Using exome sequencing data on a cohort from the Simons Simplex Collection of 1,781 people with autism spectrum disorder and their matched, unaffected siblings, Bućan and her colleagues found that affected siblings had higher mutational burdens in essential genes. (genomeweb.com)
  • Three of these modules were enriched for potential autism-related genes, the researchers reported. (genomeweb.com)
  • We provided another way to prioritize autism genes," Xiao Ji, a doctoral student in Bućan's lab, said in a statement. (genomeweb.com)
  • A large-scale sequencing screen of X-linked synaptic genes in individuals with autism spectrum disorder (ASD) or schizophrenia (SCZ), two common neurodevelopmental disorders, identified many variants most of which have no easily predictable effect on gene function. (nih.gov)
  • Whole-exome sequencing studies have been useful for identifying genes that, when mutated, affect risk for autism spectrum disorder (ASD). (springer.com)
  • Genetic variants that contribute to autism may also be involved in attention deficit hyperactivity disorder (ADHD) and Tourette syndrome, according to a new study. (spectrumnews.org)
  • Transcription factor 7-like 2 ( TCF7L2 ) variants have been associated with type 2 diabetes mellitus (T2DM) in multiple ethnic groups. (medscape.com)
  • It is thought that changes in these regions prevent HCF-1 from interacting with transcription factors, which disrupts normal gene activity. (medlineplus.gov)
  • A SNP in ESR1 (IVS1-397, C>T) may affect estrogen binding to ERa, altering gene transcription. (cdc.gov)
  • Across cell types, these genes affect neuronal morphogenesis and neuronal communication, while neural progenitor cells show strong enrichment for development of the limbic system. (springer.com)
  • Similarly, HEPH is located in a genetic region that has already been implicated by common variants, namely the EDA2R/Androgen receptor, which is a region that has consistently shown the strongest association with male-pattern hair loss in past association studies. (gulfnews.com)
  • Studies have shown that the longevity-associated variant (LAV) of the BPIFB4 gene is associated with a longer lifespan in humans and has protective effects in rodent models of cardiovascular disease. (medicalnewstoday.com)
  • Young's lab has studied the circadian clock for more than three decades, identifying a number of the genes involved in keeping flies, humans, and other animals on schedule when it comes to eating and sleeping. (neurosciencenews.com)
  • The statistical challenge lies in the fact that these rare genetic variants may be carried by very few, or even single, individuals. (gulfnews.com)
  • Individuals with only one altered copy of this gene do not have the immune system abnormalities associated with XLA, but they can pass the altered gene to their children. (medlineplus.gov)
  • We discovered that individuals carrying the variant had been greater than twice as prone to stay asymptomatic after being contaminated with COVID-19, and people carrying two copies of this variant had been greater than eight instances extra prone to not have any signs. (relationshipsuccessnow.com)
  • Variants in the HCFC1 gene have also been found in individuals with X-linked intellectual disability. (medlineplus.gov)
  • Polymorphisms in the estrogen metabolism genes CYP17, CYP1B1, CYP1A2, COMT and ER alpha and susceptibility to primary intracranial brain gliomas in women. (cdc.gov)
  • We evaluated the associations of polymorphisms in genes important in estrogen metabolism with the risk of glioma in women. (cdc.gov)
  • Several such polymorphisms have been linked to susceptibility to other cancers in women. (cdc.gov)
  • However, polymorphisms in estrogen metabolism genes do not appear to have a strong association with glioma risk in women. (cdc.gov)
  • Future analyses will include polymorphisms in additional genes encoding enzymes important in carcinogen metabolism, DNA repair, cell cycle control, and immune function, and additional occupational exposures. (cdc.gov)
  • Another variation of the same gene can have the opposite effect of raising susceptibility to malaria - but it reduces the risk of other common childhood diseases, the study found. (ed.ac.uk)
  • A separate study showed that the Sl2 variant helped prevent clumps of cells called rosettes, found in severe malaria. (ed.ac.uk)
  • it is likely that there are other important genes yet to be found that contribute to the risk of progression to advanced AMD, especially among those who already have soft confluent drusen,' he said. (ophthalmologytimes.com)
  • Researchers tested the association between millions of genetic variants with dyslexia status and found 42 significant variants. (dyslexiascotland.org.uk)
  • A much smaller overlap of the genes associated with dyslexia was found for psychiatric, lifestyle and health conditions. (dyslexiascotland.org.uk)
  • 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)
  • Using microarray analysis, his team found that loss of menin results in increased expression of the Gas1 gene. (medindia.net)
  • We found menin linked to Hedgehog signaling by suppressing expression of GAS1, leading to the suppression of Hedgehog signaling in endocrine tissue. (medindia.net)
  • Raw and processed data for ExP STARR-seq, motif ExP STARR-seq, HS-STARR-seq and K562 PRO-seq can be found at the NCBI's Gene Expression Omnibus under accession number GSE184426 . (nature.com)
  • Scientists have found that physical activity lessens the link between genes and obesity. (progress.org.uk)
  • 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)
  • This region was later fine-mapped in the Icelandic population and confirmed in US and Danish cohorts, where the risk locus was found to be located in intron 3 of the TCF7L2 gene. (medscape.com)
  • They found that numerous DNA regions were "marked" by H4K16ac during the early developmental stages before the onset of their gene activation. (mpg.de)
  • Remarkably, when the scientists studied the offspring that were laid without the H4K16ac information, they found that genes marked by H4K16ac under normal conditions were now no longer appropriately expressed, and their chromatin organization was severely disrupted. (mpg.de)
  • Researchers at UC Berkeley and Northwestern University have found that a gene involved in the regulation of serotonin makes some of us more prone to spontaneous smiles and bursts of laughter, according to their study just published in the journal Emotion. (universityofcalifornia.edu)
  • Several studies have reported various epilepsy risk variants of GABRG2 ( gamma-aminobutyric acid type A receptor subunit gamma2 subunit ) gene in different ethnic groups, but the results are inconsistent. (hindawi.com)
  • These three modules were also enriched for essential genes and for early expression in fetal brain regions, they noted. (genomeweb.com)
  • Among ligand-gated channel genes, the genes encoding gamma-aminobutyric acid (GABA) receptors are considered a hotspot for susceptibility of IGE because of the extensive distribution of GABA receptors in the central nervous system (CNS), their potential for postsynaptic inhibition, and regulation by therapeutically important antiepileptic drugs [ 10 ]. (hindawi.com)
  • Malfunction of the gene encoding these subunits influences the expression, gating of the ion channels, and trafficking of GABA receptors to the cellular surface [ 13 ]. (hindawi.com)
  • Our goal was to identify the variants which might either create or disrupt an acceptor splice site, a donor splice site or an exonic splicing enhancer, thus leading to aberrant splicing that could be involved in the pathogenesis of ASD or SCZ. (nih.gov)
  • Partial reduction in this protein's function appears to disrupt normal brain development, leading to the features of X-linked disability, but does not severely impact vitamin B12 processing. (medlineplus.gov)
  • Promoters of housekeeping genes contain built-in activating motifs for factors such as GABPA and YY1, which decrease the responsiveness of promoters to distal enhancers. (nature.com)
  • Promoters of variably expressed genes lack these motifs and show stronger responsiveness to enhancers. (nature.com)
  • A variant of the TROVE2 gene, whose role in immunological diseases is currently being investigated, was linked to participants' ability to remember a particularly high number of negative images, while their general memory remained unaffected. (unibas.ch)
  • However, this is difficult as the diseases are complex, with several genes as well as environmental factors influencing the development of disease. (avhandlingar.se)
  • These gene variations, common in African populations, were believed to have evolved in response to malaria, but previous studies have been unable to confirm this. (ed.ac.uk)
  • Salt Lake City-Population studies in Utah and Iceland have identified a gene variant that is associated with an increased risk of a precursor of age-related macular degeneration (AMD), researchers report. (ophthalmologytimes.com)
  • In both studies, the presence of the CFH Y402H variant was associated with more than a doubled risk of developing both soft confluent drusen and advanced AMD. (ophthalmologytimes.com)
  • Previous studies linking dyslexia to specific genes have been done on small numbers of families and the evidence was unclear, the research team says. (dyslexiascotland.org.uk)
  • In two independent studies, scientists at the University of Basel have demonstrated that both the structure of the brain and several memory functions are linked to immune system genes. (unibas.ch)
  • Scientists from the University of Basel's Transfaculty Research Platform Molecular and Cognitive Neurosciences (MCN) have now carried out two independent studies that demonstrate that this link between the immune system and brain is more significant than previously believed. (unibas.ch)
  • The results of the two studies show that both brain structure and memory are linked to the activity of genes that also perform important immune regulatory functions in the blood. (unibas.ch)
  • Further studies with a sub-group of volunteers established a link between levels of demethylation and exercise - volunteers who exercised the hardest had the greatest levels of demethylation. (progress.org.uk)
  • [ 11 ] Subsequent studies have shown that several noncoding genetic variants of TCF7L2 are associated with T2DM risk in populations of diverse ancestries in the United Kingdom, the Netherlands, Finland, Sweden, France, India, and Japan. (medscape.com)
  • Replication studies identify several genetic variants in Arabs with obesity-linked diabetes. (who.int)
  • This gene is involved in the immune response for defense against infection,' Dr. Zhang said. (ophthalmologytimes.com)
  • X-linked agammaglobulinemia (XLA) is a condition that affects the immune system and occurs almost exclusively in males. (medlineplus.gov)
  • 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)
  • This section includes genomic Reference Sequences (RefSeqs) from all assemblies on which this gene is annotated, such as RefSeqs for chromosomes and scaffolds (contigs) from both reference and alternate assemblies. (nih.gov)
  • Researchers unearthed more than 3,800 tobacco or alcohol use-related variants using data for 3.4 million participants from four ancestry groups. (genomeweb.com)
  • An analysis conducted in 45,000 adults mainly of European ancestry associated 160 genes with brain shrinkage seen on MRI. (sciencedaily.com)
  • This variant is current in about 10% of the inhabitants with European ancestry. (relationshipsuccessnow.com)
  • For the ASC study, only the most damaging class of dnMis variants-as judged by a composite score involving evolutionary conservation and likelihood an amino acid substitution is damaging [ 6 ]-shows strong signal for enrichment in ASD subjects. (springer.com)
  • [ 29 ] These data suggest that genetic susceptibility to T2DM as determined by TCF7L2 variants might prove an actionable indicator for early intervention and disease prevention. (medscape.com)
  • This essential genes set was compiled from human essential gene orthologs in mice and essential genes uncovered through cell-based assays. (genomeweb.com)
  • The prevalence of X-linked ID (XLID) in males has been estimated at 1 case in 600 to 1000 births. (biomedcentral.com)
  • Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. (medlineplus.gov)
  • Many people of African heritage are protected against malaria by inheriting a particular version of a gene, a large-scale study has shown. (ed.ac.uk)
  • This study is a missing piece in the puzzle of how genes protect people against malaria. (ed.ac.uk)
  • This study demonstrates that it is also possible to make human cardiac cells younger and older mice hearts by transferring a gene expressed by centenarians. (medicalnewstoday.com)
  • This study uncovered a new layer of regulation of pro-proliferative genes by menin via the Hedgehog signaling pathway," Hua says. (medindia.net)
  • 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)
  • A new study implicates 160 genes in brain shrinkage seen on MRIs of 45,000 healthy adults. (sciencedaily.com)
  • The genes represent new targets of study for development of drugs to intervene before the onset of clinical symptoms, Dr. Seshadri said. (sciencedaily.com)
  • The study offers new evidence that external factors, such as exercise, can alter gene expression, indicating it is more flexible than once thought. (progress.org.uk)
  • New study links a gene variant with smiling and laughter. (universityofcalifornia.edu)
  • The study tested 336 participants in all, collecting their saliva samples to establish whether they had the long or short version of the 5-HTTLPR gene. (universityofcalifornia.edu)
  • We show, by using an imaging genetics approach, that healthy carriers of rs1344706 risk genotypes exhibit no changes in regional activity but pronounced gene dosage-dependent alterations in functional coupling (correlated activity) of dorsolateral prefrontal cortex (DLPFC) across hemispheres and with hippocampus, mirroring findings in patients, and abnormal coupling of amygdala. (dnalc.org)
  • [ 28 ] In fact, the predictive power of TCF7L2 variants disappears with lifestyle modifications or metformin treatment, although improved insulin sensitivity resulting from these changes directly opposes the pathologic influence of TCF7L2 variants. (medscape.com)
  • Scientists have for the first time pinpointed a large number of genes that are reliably associated with dyslexia. (dyslexiascotland.org.uk)
  • A bout of intense exercise can change the way your genes are regulated, scientists have shown. (progress.org.uk)
  • Until recently, however, scientists did not have the tools to locate the genes that influence human behaviors. (technologyreview.com)
  • Our findings show that common genetic differences have very similar effects in boys and girls, and that there is a genetic link between dyslexia and ambidexterity," says Dr Luciano. (dyslexiascotland.org.uk)
  • It is a common symptom of schizophrenia and has been linked to a number of brain areas, including the the dorsolateral prefrontal cortex (DLPFC) and the hippocampus . (dnalc.org)
  • In contrast, the contribution to this common condition of rare genetic variants has traditionally been assumed to be low. (gulfnews.com)
  • Yet, dnMis variants are more common. (springer.com)
  • They looked at common variants - single-letter changes to DNA that appear in more than 1 percent of the population - shared by any two of the four conditions. (spectrumnews.org)
  • London: Researchers have identified rare gene variants that cause male pattern hair loss, also termed androgenetic alopecia. (gulfnews.com)
  • Using RNA-sequencing data from BrainSpan, the researchers gauged the expression of essential and non-essential genes in different parts of the brain at different developmental stages to find 41 distinct co-expression modules. (genomeweb.com)
  • Based on a co-expression network of these 974 essential genes, the researchers whittled them down to a set of 29 for priority follow up to examine a potential disease role. (genomeweb.com)
  • For genes encoding the disrupted interactions, we evaluate their expression patterns across developing brains and within specific cell types, using both bulk and inferred cell-type-specific brain transcriptomes. (springer.com)
  • Their gene expression during brain development and within cell types highlights how they relate to ASD. (springer.com)
  • 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)
  • For example, variants of the ADIPOQ gene (the rs266729 single-nucleotide polymorphism) are associated with obesity and diabetes in various Arab countries. (who.int)
  • Researchers have previously identified the HLA-B*15:02 allele as being linked to phenytoin-related severe cutaneous reactions, most specifically in Asians. (medscape.com)
  • 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)
  • Sanger sequencing, co-segregation analysis, structural modeling, and in silico analysis were done to verify the causative variants. (biomedcentral.com)
  • In the last decades, exome sequencing technology has revolutionized the process of disease-causing gene discovery in XLIDs. (biomedcentral.com)
  • The patients were studied genetically for Fragile X syndrome, followed by whole exome sequencing and analysis of intellectual disability-related genes variants. (biomedcentral.com)
  • In the recent decade, remarkable progress has been made in identifying new causative genes and understanding the underlying mechanisms in over 100 XLID conditions [ 4 ]. (biomedcentral.com)
  • Although the precise mechanisms behind the links we discovered still need to be clarified, we hope that this will ultimately lead to new treatment possibilities," says Professor Andreas Papassotiropoulos, Co-Director of the University of Basel's MCN research platform. (unibas.ch)
  • It stays unclear what different mechanisms regulate asymptomatic infections, or why not everybody carrying this particular variant stays with out signs. (relationshipsuccessnow.com)
  • [ 16 ] Potential mechanisms through which TCF7L2 variants influence T2DM include its role in adipogenesis, myogenesis, and pancreatic islet development, as well as in beta-cell survival and insulin secretory granule function. (medscape.com)