HeterozygotesMutant homozygotesHeterozygoteMutationsPhenotypeGenesSignificantly higherAlleleGene expressionGenotypeHumansAbnormalGeneticMRNA expressionPhenotypesVivoGenomeTraitMiceMagneticEpithelial cellsProtein expressionInhibitionDifferentialDiseaseNeuronalHigherGSTO2AllelesCharacteristicsTissueObesityCancerQuantitativeActivityAnalysisDevelopmentIndividualsRiskStudiesResponseFunction
Heterozygotes4
- Null mutations in TMEM38B reduce the levels of functional TRIC-B in heterozygotes and abolish expression of functional TRIC-B in homozygotes. (wikipedia.org)
- The homozygotes and heterozygotes for the wild type allele named positive genotypes. (molvis.org)
- If MHC heterozygotes were superior to both homozygotes in resisting infectious agents, this would contribute to MHC genetic diversity. (utah.edu)
- ie, both heterozygotes and homozygotes for the abnormal gene are affected. (msdmanuals.com)
Mutant homozygotes2
- The increase in frequency of the mutant gene though is balanced by the fact that mutant homozygotes have decreased fitness. (discovermagazine.com)
- However, I found that mortality of the mutant homozygotes is elevated after 5 months of age. (soken.ac.jp)
Heterozygote2
- Differential allelic expression (DAE) in heterozygote individuals could be used to develop a new approach to discover regulatory breast cancer susceptibility loci. (springer.com)
- Subjects with R/R genotype had significantly higher FVIIc levels than Q353 heterozygote and homozygote subjects (96.36 versus 59.52). (who.int)
Mutations4
- Family members with confirmed identical ATP2A2 mutations can exhibit differences in the clinical severity of disease, suggesting that other genes or environmental factors affect the expression of keratosis follicularis (Darier disease). (medscape.com)
- Because the disease-causing mutations in ATP2A2 affect functional domains of the gene, the mechanism of autosomal dominant transmission is believed to be haploinsufficiency, in which a single wild-type functioning ATP2A2 is insufficient to prevent disease. (medscape.com)
- Phenotypic analysis of these ' in locus ' mutations based on both expression of Kni protein and adult wing phenotypes, reveals novel unexpected features of L2-CRM function including evidence for a chromosome pairing-dependent process that promotes transcription. (elifesciences.org)
- Scope includes mutations and abnormal protein expression. (cancerindex.org)
Phenotype5
- No unique phenotype for genetic homozygotes has been reported. (medscape.com)
- In the rare disease erythropoietic protoporphyria , haploinsufficiency for ferrochelatase ( FECH ) contributes to the clinical phenotype but is not the only reason for the disease expression. (dorak.info)
- The functional phenotype of astrocytes was determined by quantitative RT-PCR, ELISA, and immunohistochemistry. (biomedcentral.com)
- These results demonstrate that astrocytes isolated from B6.129S6-Il10 tm1Flv /J homozygotes are prone to A1 phenotype and contribute to the depression-like behavior and memory deficits. (biomedcentral.com)
- We have argued that many such genes function to solve ecological problems and as such, will fall into a category where expression of their phenotype will be ecology dependent. (utah.edu)
Genes12
- Our analysis of anther transcriptome modulations by two distinct am1 alleles, am1-489 and am1-praI , redefines the role of AM1 as a modulator of expression of a subset of meiotic genes, important for meiotic progression and provided stage-specific insights into the genetic networks associated with meiotic entry and early prophase I progression. (biomedcentral.com)
- A widely accepted working hypothesis is that allelic variants of OR genes may harbor different functional characteristics and hence, may generate different odorant sensitivity phenotypes in different members of the human population [ 16 - 18 ]. (biomedcentral.com)
- We show that differential allelic expression is common among these 12 candidate genes and is comparable between breast and blood (fresh and transformed lymphoblasts) in a significant proportion of them. (springer.com)
- This important work substantially advances our understanding of the interplay between genetic variation, chromatin, and genes within topologically associated domains and how this interplay regulates gene expression. (elifesciences.org)
- Thus far，expression patterns of \u003ci\u003eGsdma genes\u003c/i\u003e clustering in the mouse chromosome 11 have been well analyzed，and it is revealed that they are expressed in skin and upper gastrointestinal tracts，such as esophagus and stomach，in a tissue specific manner. (soken.ac.jp)
- Moreover, functional analysis of the \u003ci\u003eGsdmc\u003c/i\u003e and \u003ci\u003eGsdmc\u003c/i\u003e genes has been hampered by absence of available mutants. (soken.ac.jp)
- The results clearly showed that the expression patterns of these genes are highly tissue specific. (soken.ac.jp)
- The relationship between functional single nucleotide polymorphisms (SNP) of the FCGR2A and FCGR3A genes and the response to anti-tumour necrosis factor (TNF)α therapy (infliximab) in patients with rheumatoid arthritis (RA) was assessed. (bmj.com)
- MicroRNAs (miRNAs) negatively regulate the expression of the target genes by binding to ʻseed sequences' in the 3'‑untranslated region (3'‑UTR) mRNA transcripts, and the variants within or nearby ʻseed sequences' may compromise or enhance miRNA/mRNA interaction leading to either ʻloss‑of‑function' or ʻgain‑of‑function' effects. (spandidos-publications.com)
- MicroRNAs (miRNAs), a class of endogenous small non-coding RNAs of 20-25 nucleotides, modulate the expression of genes at the post-transcriptional level ( 7 ). (spandidos-publications.com)
- Moreover, in agreement with the high expression of these genes in the testis and ovary, we found significant impairment of the reproductive process and pathological alterations, including tumors, mainly limited to the gonads. (biomedcentral.com)
- Interestingly, cuticular-related protein genes (chinase and chitin) were predominantly downregulated, which was also confirmed in the functional enrichment analysis. (cdc.gov)
Significantly higher2
- These data were recapitulated in vivo, where G/G homozygotes had significantly higher resistin mRNA levels in human abdominal subcutaneous fat. (diabetesjournals.org)
- Furthermore, it was demonstrated that the expression level of miR‑125 was comparable in epithelial cells from patients with age‑associated cataracts and controls, whereas the expression level of TP53 was significantly higher in the cataract group compared with controls. (spandidos-publications.com)
Allele4
- Using resting-state functional magnetic resonance imaging in a multi-center-sample of 178 healthy subjects of European descent, this study investigated the association of 5-HTTLPR (short s- and long l-allele) including the genotype of the single nucleotide polymorphism (SNP) rs25531 (A/G) within this region polymorphism, and trait neuroticism on resting-state functional connectivity (rs-FC) between amygdala and the FFG. (hkr.se)
- Homozygotes die in utero or perinatally depending on the allele and genetic background. (jax.org)
- The current study demonstrated that the rs78378222 polymorphism minor allele introduces a novel potential miR‑125b binding site in the TP53 3'‑UTR with a consecutive 8‑bp perfect match, creating a ʻgain‑of‑function' variant and affecting the regulation of TP53 expression. (spandidos-publications.com)
- If expression of a trait requires only one copy of a gene (one allele), that trait is considered dominant. (msdmanuals.com)
Gene expression13
- To gain more insights into the roles of AM1 in the transcriptional pre-meiotic and meiotic programs, we report here an in depth analysis of gene expression alterations in carefully staged anthers at 1 mm (meiotic entry) and 1.5 mm (L/Z) caused by each of these am1 alleles. (biomedcentral.com)
- Normal gene expression variation is thought to play a central role in inter-individual variation and susceptibility to disease. (springer.com)
- We compared the distribution of allelic ratios of gene expression in fresh blood (B cells and total mononuclear cells), transformed lymphoblasts, and breast tissue from unmatched healthy individuals. (springer.com)
- Gene expression is known to be affected by interactions between local genetic variation and DNA accessibility, with the latter organized into three-dimensional chromatin structures. (elifesciences.org)
- With 176 samples profiled for genotype, gene expression, and open chromatin, we used regression modeling to infer genetic-epigenetic interactions on a genome-wide scale. (elifesciences.org)
- The work will be of broad interest to geneticists and those working to understand the basic mechanisms of gene expression. (elifesciences.org)
- Local regulatory mechanisms within the genome and their interaction with chromatin structure give rise to subtle variations in gene expression. (elifesciences.org)
- Understanding the scope and landscape of these interactions on a genome-wide scale is a vital step towards deciphering the genetic regulation of gene expression and, in turn, the mechanisms of non-coding variation on phenotypic outcomes. (elifesciences.org)
- Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
- MicroRNAs (miRNAs) are an integral part of the post-transcriptional machinery of gene expression and have been implicated in the carcinogenic cascade. (cdc.gov)
- MicroRNAs (miRNAs) are small, noncoding RNAs that bind to the 3' UTR of target mRNAs, and silence gene expression by inducing degradation of target mRNAs or inhibition of protein translation [ 10 ]. (cdc.gov)
- Here, we applied Illumina RNA-Seq to study the gene expression patterns associated with resistance to three widely used insecticides (malathion, alphacypermethrin, and lambda-cyhalothrin) in Ae. (cdc.gov)
- These results could inform development of novel molecular tools for detection of resistance-associated gene expression in this important arbovirus vector and guide the design and implementation of resistance management strategies. (cdc.gov)
Genotype1
- The presented data implies that 5-HTTLPR/rs25531 variants and neuroticism are linked by resting state functional connectivity of amygdala and fusiform gyrus and suggests that variants of 5-HTTLPR/rs25531 genotype and different levels of neuroticism may partly account for altered processing of negative facial emotions. (hkr.se)
Humans2
- Resistin expression in humans has been reported at low levels in the adipose tissue of some but not all humans ( 7 , 8 ), and its reduced expression has also been proposed as a hallmark of obesity ( 9 ). (diabetesjournals.org)
- These results portray a case of unusually high genetic diversity, and suggest that individual humans have a highly personalized inventory of functional olfactory receptors, a conclusion that might apply to other receptor multigene families. (biomedcentral.com)
Abnormal1
- [ 25 ] In particular, studies have revealed that keratosis follicularis (Darier disease) keratinocytes displayed abnormal trafficking of the desmosomal protein desmoplakin and abnormal expression of cytokeratins 10 and 14. (medscape.com)
Genetic2
- Genetic restoration of CETP expression in mice to generate a more human-like lipid profile may increase the relevance of murine models for VCID studies. (biomedcentral.com)
- The purpose of this study was to evaluate functional genetic polymorphisms of physiologic pathways related to the regulation of the cardiovascular function (alpha-adrenergic receptors, endothelial nitric oxide synthase and bradykinin B2 receptor) and exercise muscle vasodilatation in apparently healthy men and women. (scipedia.com)
MRNA expression2
- This has come to be a range of "omics"-related tests, such as DNA variation, protein or mRNA expression, metabolites, and biomarkers. (usf.edu)
- This involves selective suppression of both neurogenin1 ( ngn1 ) and coe2 mRNA expression in a process that is independent of Notch signalling, and where inhibition of either ngn1 or coe2 expression is sufficient to prevent neuronal differentiation across the midbrain-hindbrain boundary. (silverchair.com)
Phenotypes1
- Homozygote Pax3(Pax8/Pax8) embryos display phenotypes indistinguishable from Pax3-deficient mutant embryos, with neural tube closure defects, a deficit in neural crest cells in the trunk, and skeletal muscle defects including absence of long-range migratory myogenic progenitors and impaired somite development. (pasteur.fr)
Vivo1
- Here we describe the identification of bottlenecks limiting adeno-associated virus (AAV)-mediated prime editing in vivo and the development of AAV-PE vectors with increased PE expression, prime editing guide RNA stability and modulation of DNA repair. (nature.com)
Genome3
- Using a custom SNP microarray we validated 150 SPGs in a cohort of 468 individuals, with every individual genome averaging 36 disrupted sequence variations, 15 in homozygote form. (biomedcentral.com)
- Here, we employ diverse CRISPR/Cas9 genome editing tools to generate a series of targeted lesions within the endogenous cis-regulatory module (CRM) required for kni expression in the L2 vein primordium. (elifesciences.org)
- u003cbr /\u003e In mouse，other members of the \u003ci\u003eGsdm/GSDM\u003c/i\u003e family，\u003ci\u003eGsdmc\u003c/i\u003e and \u003ci\u003eGsdmd\u003c/i\u003e，are known to be expressed in intestinal tracts, small intestine and colon, but information about their genome structures and fine expression patterns is very limited. (soken.ac.jp)
Trait2
- Polymorphic variants at regulatory elements can cause differential allelic expression (DAE), thus using DAE as a quantitative trait could help identify such variation. (springer.com)
- If expression of a trait requires 2 copies of a gene (2 alleles), that trait is considered recessive. (msdmanuals.com)
Mice2
- Pretreatment IL-10 tm1/tm1 mice with IL-10 or fluorocitrate decreased the expression of proinflammatory factors and A1-specific transcripts in the hippocampus and cortex, and then alleviated LPS-induced depressive-like behavior. (biomedcentral.com)
- According to this, Ambra1 +/− mice showed a reduced Stat3 expression in the ovary together with a low number of antral follicles and an increase of atretic follicles, indicating a function of Ambra1 in the ovary of mammals as well. (biomedcentral.com)
Magnetic3
- Mining the data on 1,400 study participants, the researchers uncovered differences in white matter (measured by diffusion tensor imaging), brain activity (measured by functional magnetic resonance imaging of AD-relevant areas such as hippocampus), and certain measures of learning. (alzforum.org)
- Here, we used functional Magnetic Resonance Imaging (fMRI) to investigate the effects the selective dopamine D(3) receptor antagonist GSK598809 on brain activation to food images in a sample of overweight and obese binge-eating subjects. (exeter.ac.uk)
- Dissociating inhibition, attention, and response control in the frontoparietal network using functional magnetic resonance imaging. (exeter.ac.uk)
Epithelial cells2
- Mesenchymal cells are required for functional development of thymic epithelial cells. (jax.org)
- Additionally, transfection with 50 nM miR‑125b mimics markedly reduced the mRNA and protein expression levels of TP53 in the cultured lens epithelial cells, and miR‑125b significantly induced apoptosis in the epithelial cells compared with negative control cells. (spandidos-publications.com)
Protein expression1
- The investigators found that the resultant transfected cells showed defects in ATP2A2 protein expression (15 mutants), ATP hydrolysis (29 mutants), calcium transport (4 mutants), and calcium binding and kinetics (3 mutants). (medscape.com)
Inhibition1
- Consistent with evidence in flies, neurospheres from patients with high V-ATPase subunit expression show inhibition of autophagy. (sdbonline.org)
Differential4
- Differential allelic expression ratios were determined by Taqman assay. (springer.com)
- Our findings support the use of differential allelic expression in blood as a surrogate for breast tissue in future studies on predisposition to breast cancer. (springer.com)
- We aimed to perform a more extensive evaluation of differential allelic expression between blood and breast in order to assess the potential usefulness of LCL and fresh blood in association studies, to identify regulatory polymorphisms related to susceptibility to breast cancer. (springer.com)
- Taking account of the strictly restricted and differential expression patterns of each member of the \u003ci\u003eGsdm\u003c/i\u003egene family, may play differential functions depending on tissues that express specific member(s) of the \u003ci\u003eGsdm\u003c/i\u003e gene family. (soken.ac.jp)
Disease2
- The expression of IL-17F is seen in the airway of asthmatics and its level is correlated with disease severity. (hindawi.com)
- Intermittent vaso-occlusive crises may be superimposed, or chronic low-level pain may be the only expression of the disease. (medscape.com)
Neuronal1
- Because OR neuronal expression is allelically excluded, this has direct effect on smell perception diversity of the species. (biomedcentral.com)
Higher2
- Compared with their wild-type counterparts, IL-10 tm1/tm1 astrocytes exhibited higher expression of glial fibrillary acidic protein (GFAP). (biomedcentral.com)
- A recent study of the disparity in breast cancer mortality between AA and EA women concluded that differences in mortality are driven by higher hazard rates of breast cancer death in AA women, irrespective of ER expression [ 9 ]. (cdc.gov)
GSTO21
- Functional relevance of yet another GSTO2 polymorphism, identified at the 5' untranslated (5'UTR) gene region (GSTO2*A183G, rs2297235), has not been clearly discerned so far. (cancerindex.org)
Alleles2
- Cell-surface receptors are often characterized by several haplotypic alleles in the population, sometimes with different functional properties. (biomedcentral.com)
- Regulatory polymorphisms in cis-acting elements result in the unequal expression of alleles. (springer.com)
Characteristics1
- Our results show that astrocytes isolated from B6.129S6-Il10 tm1Flv /J homozygotes (IL-10 tm1/tm1 ) were prone to characteristics of A1 reactive astrocytes. (biomedcentral.com)
Tissue1
- While cells could survive as grafts for several months, there was little evidence for true integration into host tissue and immature photoreceptors did not mature into fully functional structures ( 5 , 6 ). (amegroups.org)
Obesity1
- The latter findings were contradicted in rodent models of obesity in which PPAR-γ agonists augmented expression of resistin ( 3 ). (diabetesjournals.org)
Cancer1
- Approximately 10% of AT homozygotes develop cancer, mostly of the lymphoid system. (bmj.com)
Quantitative1
- Second, I conducted extensive analysis of expression profiling of the \u003ci\u003eGsdmc\u003c/i\u003eand \u003ci\u003eGsdmd\u003c/i\u003egenes by Northern blot, quantitative PCR and \u003ci\u003ein situ\u003c/i\u003e hybridization. (soken.ac.jp)
Activity1
- On a neural level, this bias can be characterized by altered amygdala and fusiform gyrus (FFG) activity during perception of negative facial expressions. (hkr.se)
Analysis1
- The results of RT-PCR analysis and immunofluorescence staining also confirmed the expression of δ-hENaC (as well as α-, ß-, γ-ENaC) at the mRNA and protein level. (bvsalud.org)
Development1
- A very useful early part of their review is a description of retinal development focused on the spatial and temporal expression of transcription factors. (amegroups.org)
Individuals1
- Separate analyses for 5-HTTLPR/rs25531 and neuroticism (controlling for age, gender, handedness, and research site) revealed that s/s-homozygotes and individuals high in neuroticism obtained altered amygdala rs-FC in the right occipital face area, which is considered to be a "core component" of the face processing system. (hkr.se)
Risk2
- If the results hold up, they could explain why some ApoE3/E3 homozygotes, a supposedly risk-neutral group, have LOAD risk that parallels that of E4 carriers, and may improve stratification of participants in future clinical trials. (alzforum.org)
- Johnson focused on E3 homozygotes because of their curious bimodal distribution on AD risk charts. (alzforum.org)
Studies2
- Functional studies have suggested that IL-17F is involved in asthma pathology. (hindawi.com)
- Studies in monkeys and rodents have demonstrated that functional interaction with the reciprocally connected MD is critical for maintaining working memory [15-17]. (researchsquare.com)
Response1
- siRNA transfection of murine Zranb3 in MIN6 β-cells results in impaired insulin secretion in response to high glucose, implicating Zranb3 in β-cell functional response to high glucose conditions. (zfin.org)
Function1
- Interestingly, despite Pax8 expression in the neural tube in a domain ventral to that of Pax3, Pax8 cannot replace Pax3 function in the dorsal neural tube. (pasteur.fr)