MutationsExpressionVariantsCandidate genesIdentifiesSusceptibility genesGenomeSynaptic plasticityHuman genes responsibleProteinsPredispositionKinaseLoci associatedGenomicPhenotypesMutationHumansPolymorphismsTumorGeneticsTarget genesCharacterizeMolecularInteractionsRegulationRecessive geneticProteinDeterminantsBioinformaticsChromosomeLocusExposurePhenotypicComputationalHeritabilityOrganismsDrosophilaPopulationsMiceTherapyResearchersCRISPRAntigenTransgenicRegulatoryOutcomesCancerEncodesTherapiesTraitsDiseasesVariationWhole exomeClinicalInflammationDisordersUnderstand the genetic architectureDevelopmentalPathwaysResultsAbstractMechanismsStudiesBiology
Mutations18
- Mutations in ras genes can cause permanent activation of ras proteins. (medscape.com)
- The NF1 phenotype results from loss-of-function mutations of the NF1 gene and, therefore, the absence of neurofibromin 1. (medscape.com)
- Mutations that have been observed in the NF1 gene include stop mutations, amino acid substitutions, insertions, deletions (partial or whole), and gross chromosomal rearrangements. (medscape.com)
- Several mutations in the CFHR5 gene have been found to cause a rare form of kidney disease called C3 glomerulopathy. (medlineplus.gov)
- This work generated a comprehensive atlas of both co-occurring and mutually exclusive mutations among RAS and other genes at an unprecedented resolution. (news-medical.net)
- Our study shows that you need to consider who the host is and what the genetic makeup is of the tumor, because RAS-mutant tumors with different co-mutations have completely different profiles and clinical behavior. (news-medical.net)
- Working in teeny tiny worms, scientists can now test the effects of thousands of genetic mutations in one fell swoop. (aau.edu)
- It will allow biologists to do experiments that compare many versions of a gene, hunting for mutations that lead to specific traits and tracking their evolution over time. (aau.edu)
- Scientists have many reasons why they might want the ability to create many genetic mutations at once. (aau.edu)
- That design means that instead of individually injecting many individual worms with different versions of a gene, researchers can inject the whole library of mutations into one worm. (aau.edu)
- The result: a collection of worms that all have different randomly selected genetic mutations. (aau.edu)
- While mutations to the hGH gene often lead to abnormal growth in children and adults, these mutations have provided researchers with key clues regarding the genomic areas that appear to control expression of the hGH gene. (sciencedaily.com)
- Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
- Now it's well understood that genes operate in complex networks and that gene mutations can have multiple detrimental effects. (icr.org)
- Pervasive pleiotropy is a major problem for the concept of evolution in which mutations are thought to provide the genetic fodder for new beneficial traits to evolve. (icr.org)
- However, not only are mutations hardly ever beneficial, but because genes are so widely interconnected in the genome, a mutation in one gene will have a downstream effect on many others, especially if it's in a gene involved in regulating other genes. (icr.org)
- and mutations in the genome's "dark matter" - genetic code that regulates the expression of other genes. (childrenshospital.org)
- This paper reports that loss of function of the Drosophila gene cabeza (the Drosophila equivalent of the human FUS gene, mutations in which can cause a familial form of the motor neurodegenerative disease amyotrophic lateral sclerosis or ALS) induces muscle developmental defects. (europa.eu)
Expression44
- Autosomal dominant genetic transmission indicates that one copy of the altered gene is required for phenotypic expression. (medscape.com)
- Global patterns of gene expression following inhalation of toluene diisocyanate suggest development of allergic rhinitis. (cdc.gov)
- Global patterns of gene expression were examined via microarray in a murine model of TDI rhinitis and compared to acute nasal exposure to lipopolysaccharide (LPS). (cdc.gov)
- To characterize gene expression signatures in acute lymphocytic leukemia (ALL) cells associated with known genotypic abnormalities in adult patients. (aacrjournals.org)
- Gene expression profiles from 128 adult patients with newly diagnosed ALL were characterized using high-density oligonucleotide microarrays. (aacrjournals.org)
- T-lineage ALL was characterized by a homogeneous gene expression pattern, whereas several subgroups of B-lineage ALL were evident. (aacrjournals.org)
- BCR/ABL + gene expression pattern was more heterogeneous and was most similar to ALL without known molecular rearrangements. (aacrjournals.org)
- Supervised analysis of kinase genes revealed a high-level FLT3 expression in a subset of cases without molecular rearrangements. (aacrjournals.org)
- Using an anatomically comprehensive survey of the human transcriptome (The Allen Brain Atlas), we mapped the expression of 58 genes with suspected involvement in BD based upon their relationship to SNPs identified in genome wide association studies (GWAS). (nih.gov)
- Of 58 BD associated genes, 22 had anatomically distinct expression patterns that could be categorized into one of three clusters (C1-C3). (nih.gov)
- Brain regions with the highest and lowest expression of these genes did not overlap strongly with anatomical sites identified as abnormal by structural MRI except in the parahippocampal gyrus, the inferior/superior temporal gyrus and the cerebellar vermis, regions where overlap was significant. (nih.gov)
- Using the 22 genes in C1-C3 as reference points, additional genes with correlated expression patterns were identified and organized into sets based on similarity. (nih.gov)
- Further analysis revealed that five of these gene sets were significantly associated with BD, suggesting that anatomical expression profile is correlated with genetic susceptibility to BD, particularly for genes in C2. (nih.gov)
- Our data suggest that expression profiles of BD-associated genes do not explain the majority of structural abnormalities observed in BD, but may be useful in identifying new candidate genes. (nih.gov)
- Using a data set containing a large number of gene expression traits. (wikipedia.org)
- these effects are thought to involve alterations in gene expression. (jneurosci.org)
- Using the 6-hydroxydopamine lesion model of Parkinson's disease and differential display PCR, we have identified a set of more than 30 genes whose expression rapidly increases in response to stimulation of striatal dopamine D 1 receptors. (jneurosci.org)
- The induced mRNAs include both novel and previously described genes, with diverse time courses of expression. (jneurosci.org)
- these gene expression changes may be responsible for the alterations in striatal physiology. (jneurosci.org)
- One example is dynorphin gene expression, which is progressively induced in dorsal striatum by cocaine. (jneurosci.org)
- DESCRIPTION (provided by applicant): Expansion of the trinucleotide repeat CGG in the FMR1 gene causes dysregulation of FMR1 protein expression and results in a host of serious conditions, from cognitive impairment, autism, ovarian failure, and progressiveneurological disorders. (sbir.gov)
- 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)
- Different genes with similar expression levels are considered as different states during training HMM. (scirp.org)
- This study aims to explore its mechanism by defining changes in gene expression between neoplastic and normal tissue samples before and after treatment. (karger.com)
- 687 genes differentiated tumor samples before and after treatment, among which 310 genes did not show the same differential expression in the placebo group or normal samples. (karger.com)
- Based upon the literature, in silico SNP analysis and expression profiling, we were able to identify candidate genes in 2 of these loci: Pla2g7 in lmr1A and Apobec-2 in lmr1B. (rug.nl)
- By examining the relationship between these non-coding RNAs and the hGH gene, researchers hope to understand how these remote regions impact hGH gene expression and dysfunction. (sciencedaily.com)
- Although non-coding RNAs fail to produce functional proteins, researchers believe that in some cases these RNAs may control gene expression. (sciencedaily.com)
- This blockade led to the five-fold repression of hGH gene expression. (sciencedaily.com)
- We are also studying patterns of gene expression in our human model of ozone-induced acute airway inflammation. (cdc.gov)
- These defects are mediated by increased expression of a protein called Xrp1, which is involved in gene expression regulation. (europa.eu)
- Xrp1 is a DNA-binding protein that is involved in gene expression regulation. (europa.eu)
- The standard expression quantitative trait loci (eQTL) detects polymorphisms associated with gene expression without revealing causality. (nih.gov)
- We introduce a coupled Bayesian regression approach--eQTeL, which leverages epigenetic data to estimate regulatory and gene interaction potential, and identifies combination of regulatory single-nucleotide polymorphisms (SNPs) that explain the gene expression variance. (nih.gov)
- On human heart data, eQTeL not only explains a significantly greater proportion of expression variance but also predicts gene expression more accurately than other methods. (nih.gov)
- eQTeL SNPs capture a substantial proportion of genetic determinants of expression variance and we estimate that 58% of these SNPs are putatively causal. (nih.gov)
- With this model we can inhibit gene expression either pharmacologically or with gene silencing strategies. (sheffield.ac.uk)
- We can enhance gene expression by cytokine stimulation and/or gene editing. (sheffield.ac.uk)
- How Reliable Are Gene Expression-Based and Immunohistochemical Biomarkers Assessed on a Core-Needle Biopsy? (lu.se)
- Principles of gene expression. (lu.se)
- Molecular mechanisms for regulation of gene expression at different levels: remodeling of chromatin, initiation of transcription, nuclear transport and signalling, and RNA interference. (lu.se)
- Methods for analysis of gene expression: microarray, hybridisation, promoter analyses. (lu.se)
- Principles for regulation of gene expression through intercellular signalling. (lu.se)
- Strategies for gene therapy and production of medicines via genetically-modified organisms (expression vectors and viral vectors). (lu.se)
Variants13
- Over 1000 pathogenic allelic variants of the gene have been identified. (medscape.com)
- In recent years, a number of genetic variants associated with BD have been identified. (nih.gov)
- Data from SNP array and whole exome sequencing revealed that individuals with autism had a higher burden of rare exonic copy-number variants altering autism associated genes (deletions ( p = 0.0352) or duplications ( p = 0.0352)), higher inbreeding status ( p = 0.023) and a higher load of rare homozygous deleterious variants ( p = 0.011) compared to controls. (nature.com)
- It also revealed three genes involved in synaptic plasticity, RIMS4 , KALRN , and PLA2G4A , carrying de novo deleterious variants in individuals with autism without intellectual disability. (nature.com)
- In summary, our analysis provides a better understanding of the genetic architecture of autism in isolated populations by highlighting the role of both common and rare gene variants and pointing at new autism-risk genes. (nature.com)
- 1 The heritability of autism is very high 2 and molecular genetic studies revealed that the genetic risk for autism is shaped by a combination of rare and common variants. (nature.com)
- On the contrary, in some cases, the genetic architecture is more complex and involves thousands of common genetic variants, each one with low impact but collectively increasing the susceptibility to autism. (nature.com)
- Effects of genetic variants on the risk of complex diseases estimated from association studies are typically small. (ulaval.ca)
- Both observational studies and randomized controlled trials may be required to adequately evaluate health benefits, harms, and costs based on returning or not returning the results of gene variants to patients and providers. (cdc.gov)
- In this translational study, rare sequence variants in MKRN3 , DLK1 , KISS1 , and KISS1R genes were investigated in patients with CPP. (frontiersin.org)
- In the latter analysis, the status of variants in genes known to be related with pubertal timing was compared with an in-house Cypriot control cohort (n = 43). (frontiersin.org)
- Three previously described pathogenic MKRN3 variants located in the coding region of the gene were identified in 12 index girls with CPP. (frontiersin.org)
- Furthermore, individual genes produce multiple variants of end products with different effects through a variety of intricate mechanisms. (icr.org)
Candidate genes1
- For the H2 locus different candidate genes remain. (rug.nl)
Identifies5
- Genomic profiling also identifies genes associated with poor outcome in cases without molecular aberrations and specific genes that may be new therapeutic targets in adult ALL. (aacrjournals.org)
- Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations. (nature.com)
- Inference of chronic obstructive pulmonary disease with deep learning on raw spirograms identifies new genetic loci and improves risk models. (nature.com)
- 2018). Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types. (harvard.edu)
- This paper identifies Xrp1 as genetic interactor of the Drosophila FUS ortholog cabeza. (europa.eu)
Susceptibility genes1
- We used recombinant congenic mouse strains to map asthma susceptibility genes on mouse chromosome 17. (rug.nl)
Genome9
- Each dot represents an individual and the distance between two dots corresponds to genetic distance based on genome-wide pairwise IBS calculations. (nature.com)
- Projects will include early stage research on genome editing for ALS, an IND-enabling study in non-human primates for a gene therapy candidate for ALS, and an IND-enabling study in non-human primates for a gene therapy candidate for HD. (umassmed.edu)
- Projects will include early research on genome editing for AATD, miRNA roles in liver disease, characterization of two novel animal models for AATD and an IND-enabling study in non-human primates for a gene therapy candidate for AATD. (umassmed.edu)
- Hands-on experience with relevant mouse models as well as excellent knowledge of CRISPR-based genome editing are required. (umassmed.edu)
- The human genome is comprised of both non-coding DNA and coding regions, or genes. (sciencedaily.com)
- 1 In an effort to further analyze the restraints of pleiotropy on the evolutionary model, the researchers focused on genes that produce proteins called transcription factors (TFs) which act like switches in the genome turning other genes on and off. (icr.org)
- the advantages of using a murine model included small size, easy breeding, short time between generations, production of identical offspring, and the fact that much of their genome has been mapped for homologies with the human genome. (cdc.gov)
- Newly developed genome resources advance Nasonia for genetic. (lu.se)
- Newly developed genome resources advance Nasonia for genetic research, accelerate mapping and cloning of quantitative trait loci, and will ultimately provide tools and knowledge for further increasing the utility of parasitoids as pest insect-control agents. (lu.se)
Synaptic plasticity1
- Others may be part of a genetic program involved in cellular and synaptic plasticity. (jneurosci.org)
Human genes responsible1
- The authors conclude that by identifying human genes responsible for noise sensitivity, it may be possible to warn workers prior to noise exposure and to prevent NIHL. (cdc.gov)
Proteins3
- A cascade effect occurs when ras -GTPase is "switched on" by incoming signals, leading to activation of other proteins, which, in turn, activate genes responsible for cell growth and differentiation. (medscape.com)
- And there are many other ways that dysfunctional mutated genes and their encoded proteins or RNAs can have harmful effects in the cell. (icr.org)
- Our most recent work is focused on the novel role of RNA binding proteins (RBPs) in the development of Autosomal Dominant Polycystic Kidney Disease (ADPKD), which is the commonest genetic form of renal failure. (sheffield.ac.uk)
Predisposition3
- Tumour predisposition syndromes in which cancers arise at an accelerated rate and in different organs - the equivalent of a sensitized background - provide a unique opportunity to examine how gene-environment interactions influence cancer risk when the initiating genetic defect responsible for malignancy is known. (nih.gov)
- Animal research in 2016 indicates that the cause may be a combination of genetic predisposition and environmental factors. (psychcentral.com)
- The first "hit" is a person's genetic predisposition, and the second is a traumatic experience later in life. (psychcentral.com)
Kinase1
- Some of the induced genes, such as CREM, CHOP, and MAP kinase phosphatase-1, may be components of a homeostatic response to excessive stimulation. (jneurosci.org)
Loci associated2
- Our analysis supports the role of several genes/loci associated with autism (e.g. (nature.com)
- Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis. (nature.com)
Genomic4
- 3. Estimation of Additive, Dominance, and Imprinting Genetic Variance Using Genomic Data The development of single-nucleotide polymorphisms (SNPs) mapping helps to explore the genetic variation of complex traits at individual loci. (wikipedia.org)
- The document embraces the list of genes associated with the CDC Tier 1 genomic applications as a core list for consideration in the context of population screening. (cdc.gov)
- At the genomic level, a 14,000 base-pair separation is equal to the size of 10 growth hormone genes lined end to end. (sciencedaily.com)
- DNA sequencing indicated that a genomic deletion of 20-kb in the mutant occurred to the gene model HORVU.MOREX.r3.2HG0202650, which encodes a putative SQUAMOSA promoter-binding protein-like (SPL) transcription factor. (usda.gov)
Phenotypes1
- To confirm that the phenotypes they were studying truly caused human disease, they reversed the damage by expressing a wild-type human gene in which the associated nephrotic syndromes did not rescue the phenotypes. (childrensnational.org)
Mutation11
- Neurofibromatosis type 1 (NF1), also known as peripheral neurofibromatosis or von Recklinghausen disease, is an autosomal dominant genetic condition caused by a mutation in or a deletion of the NF1 gene. (medscape.com)
- This genetic mutation is innate, and clinical symptoms appear early in life and continue over many years. (medscape.com)
- The NF1 gene locus has a higher spontaneous mutation rate than do most gene loci. (medscape.com)
- The NF1 phenotype is highly penetrant (ie, almost all individuals with an NF1 gene mutation have some phenotypic traits of the syndrome). (medscape.com)
- The most common CFHR5 gene mutation has been identified in people from the Mediterranean island of Cyprus. (medlineplus.gov)
- Their four-year study of the RAS family - including the KRAS , NRAS and HRAS genes that are mutated in approximately one-third of all human cancers - found that the frequency of mutant RAS genes differs among various tumor types, age, sex and racial groups, and co-mutation patterns among RAS genes and other genes potentially can result in different clinical outcomes or identify new areas for therapeutic intervention. (news-medical.net)
- Led by Robert Scharpf, Ph.D., associate professor of oncology at the Johns Hopkins Kimmel Cancer Center, the team developed novel analytical frameworks to assess the prevalence and co-mutation patterns of RAS genes in the AACR Project GENIE registry. (news-medical.net)
- In each offspring, one book from the mutation library gets randomly selected to complete the gene being targeted. (aau.edu)
- Or if an enzyme-producing protein-coding gene is disrupted by mutation, the biochemical pathway associated with it can be adversely affected. (icr.org)
- Using a transgenic mouse model in which an ALS-like mutation was introduced in the mouse Fus gene, we could show that ALS pathology starts at the neuromuscular juction (the transition between motor nerves and skeletal muscle cells), long before motor neuron cell bodies in the spinal cord degenerate. (europa.eu)
- In Colorado and Wyoming, nearly every baby born since 2020 is tested for signs of a mutation in the SMN1 gene, an indicator of spinal muscular atrophy (SMA). (medscape.com)
Humans3
- Eighty-five percent of these genes are required for nephrocyte function, suggesting that a majority of human genes known to be associated with NS play conserved roles in renal function from flies to humans," says Han. (childrensnational.org)
- Traditionally, using pedigree data in humans, plants, and livestock species to estimate additive genetic variance. (wikipedia.org)
- How do we define and characterize addiction in humans and model organisms? (jax.org)
Polymorphisms3
- 2. Using a single-nucleotide polymorphisms (SNP) regression method to quantify the contribution of additive, dominance, and imprinting variance to the total genetic variance. (wikipedia.org)
- Illustration of the proposed modeling with the metabolic syndrome, abdominal obesity, physical activity and polymorphisms in the NOX3 gene in the Quebec Family Study revealed that the positive association of the A allele of rs1375713 with the metabolic syndrome at high levels of physical activity was only detectable in subjects without abdominal obesity, illustrating the importance of taking into account the abdominal obesity endophenotype in this analysis. (ulaval.ca)
- Aldehyde dehydrogenase 2 rs671 genetic polymorphisms are associated with chemotherapy-induced nausea and vomiting]. (nih.gov)
Tumor1
- in both conditions, however, the altered gene products have an important role in the dysregulation of tumor suppression. (medscape.com)
Genetics8
- Wonil Chung, Omer Weissbrod and Margaux Hujoel were awarded as semifinalists for the Charles J. Epstein Trainee Award for Excellence in Human Genetic Research for the 2018 American Society of Human Genetics Conference in San Diego, California this October. (harvard.edu)
- Using a genetically modified mouse model, Nancy E. Cooke, MD, Stephen A. Liebhaber, MD, Professors of Genetics and Medicine, and colleagues, demonstrated a critical role of two non-coding regions on the activation of the hGH gene. (sciencedaily.com)
- By carefully analyzing the 14,000 base pairs separating the hGH gene and its locus control region, co-authors Yugong Ho, PhD, an Instructor of Genetics at Penn and a Cooke/Liebhaber lab member, and Felice Elefant, PhD, Assistant Professor at Drexel University and former member of the Cooke/Liebhaber lab, found that the locus control region was copied into RNA, and discovered a gene called CD79b within this region. (sciencedaily.com)
- In the early days of genetics, genes were thought to be solitary entities. (icr.org)
- However, as our understanding of genetics grew through DNA science, it became clear that genes operate in complex interconnected networks. (icr.org)
- Our clinical genetics team and research laboratories work closely together to find the underlying causes of genetic disorders and to use this knowledge to provide better care and counseling. (childrenshospital.org)
- Triangulating genetic methods, including twin analyses and polygenic scores (PGS), we found that the contribution of noncognitive genetics to academic achievement becomes stronger over development. (biorxiv.org)
- Parasitoids are important regulators of arthropod populations, including major agricultural pests and disease vectors, and Nasonia is an emerging genetic model, particularly for evolutionary and developmental genetics. (lu.se)
Target genes1
- The probable regulatory genes of target genes can be found out through the resulting states transition matrix and the determinate regulatory functions can be predicted using nonlinear regression algorithm. (scirp.org)
Characterize1
- To address this, I have received funding from the Academy of Medical Sciences (Springboard Fellowship Award - 2018-2020) to combine RNAseq transcriptomics and functional siRNA screening technologies to identify and characterize key genes involved in cystogenesis (the generation of cysts). (sheffield.ac.uk)
Molecular5
- We also identified a set of 83 genes that were highly expressed in leukemia blasts from patients without known molecular abnormalities who subsequently relapsed following therapy. (aacrjournals.org)
- 2018). Leveraging molecular quantitative trait loci to understand the genetic architecture of diseases and complex traits. (harvard.edu)
- Before the advent of modern molecular biology, scientists defined a gene as a single unit of inheritance. (icr.org)
- My lab combines genetic, molecular, high-throughput screening and bioinformatics approaches to address key questions using human and mouse models of disease. (sheffield.ac.uk)
- Gene technology: basic and applied molecular genetic methods. (lu.se)
Interactions6
- Dominance genetic variance refers to the phenotype deviation caused by the interactions between alternative alleles that control one trait at one specific locus. (wikipedia.org)
- Estimating genetic effect sizes under joint disease-endophenotype models in presence of gene-environment interactions. (ulaval.ca)
- 3) studies of gene-environment interactions in shaping social-emotional development. (upenn.edu)
- Specifically, the researchers sought to determine the interactions between TFs and their interactive ability to bind to DNA and control genes and the result of these effects on mathematical evolutionary models. (icr.org)
- This seminar will provide an introduction to Big Data and machine learning and potential public health applications, including examples from large scale analyses using National Health and Nutrition Examination Survey data to look at gene-environment interactions. (cdc.gov)
- and the rapid evolution of genes involved in nuclearmitochondrial interactions that are implicated in spedation. (lu.se)
Regulation5
- Genes involved in antigen processing/presentation, lymphocyte activation/regulation, cytokine-receptor signaling and humoral immunity were differentially regulated in TDI rhinitis. (cdc.gov)
- It is unclear how variations in this gene affect the regulation of the complement system, and researchers are still working to determine how these genetic changes contribute to disease risk. (medlineplus.gov)
- Instead, the non-coding RNA was suspected to play a role in hGH gene regulation. (sciencedaily.com)
- not unique for the embryonic system but are shared by other ogenesis regulation must consider different scales of multi-cellular modeling areas. (lu.se)
- Gene regulation in developmental biology and the cell cycle. (lu.se)
Recessive genetic2
- The aim of this meta-analysis was to discover the effect of dominant and recessive genetic models of LSP1 gene rs3817198 polymorphism on breast cancer risk. (waocp.com)
- Patients with Hunter syndrome are distinguished from patients with other MPSs because of the male dominant pattern due to the X-linked recessive genetic transmission. (medscape.com)
Protein7
- The NF1 gene product is a cytoplasmic protein called neurofibromin 1, which appears to have diverse functions in many different tissues. (medscape.com)
- The CFHR5 gene provides instructions for making a protein called complement factor H-related 5. (medlineplus.gov)
- However, its structure is similar to that of a protein called complement factor H (which is produced from the CFH gene). (medlineplus.gov)
- Leukocyte-specific protein 1 (LSP1) gene is located on 11p15.5 and encodes an F-actin binding protein. (waocp.com)
- Globally, aquaculture is the fastest growing food producing sector, accounting for almost 50% of the animal protein consumed, with the expectation that this will rise to 65% by 2030, due to the increasing emphasis on fish products as important components of a healthy diet ( http://www.fao.org/fishery/aquaculture/en ). (europa.eu)
- While the CD79b gene normally codes for a protein in blood lymphocytes, researchers discovered that CD79b appears to play a very different role in the pituitary gland. (sciencedaily.com)
- Patrick Cramer is carrying out research on the enzyme that transcribes the DNA code to enable a protein to be synthesized from a gene. (mpg.de)
Determinants1
- Currently, few genetic determinants of children with CPP have been described. (frontiersin.org)
Bioinformatics1
- Bioinformatics expertise, tissue banks, stem cell models, and animal models all contribute to a fast pace of discovery. (childrenshospital.org)
Chromosome1
- The NF1 gene is cytogenetically located on the long (q) arm of chromosome 17, at band 11.2 (17q11.2). (medscape.com)
Locus2
- Our models were found to be a valuable tool to investigate this complex locus which, like Pla2g7, was also associated to human asthma in many studies. (rug.nl)
- Previous work in the laboratories of Cooke and Liebhaber found that the hGH gene is controlled by a non-coding DNA region, or locus control region. (sciencedaily.com)
Exposure11
- We propose polytomous and transition models to represent the relationship between disease, endophenotype, genotype and environmental exposure in family studies. (ulaval.ca)
- Model coefficients were estimated using generalized estimating equations and were used to derive gene-environment interaction effects and genotype effects at specific levels of exposure. (ulaval.ca)
- In a simulation study, estimates of the effect of a genetic variant were substantially higher when both an endophenotype and an environmental exposure modifying the variant effect were taken into account, particularly under transition models, compared to the alternative of ignoring the endophenotype. (ulaval.ca)
- Environmental exposure along with genetic pre-disposition has been shown to have a cumulative effect on breast cancer risk [1]. (waocp.com)
- This study seeks to assess the impact of measurement errors in cumulative exposure on estimates of a gene-environment interaction in a nested case-control study in occupational epidemiology. (bmj.com)
- Three data analysis strategies were considered: one using a correctly specified disease model (exposure and exposure-gene interaction), and two using mis-specified disease models, one with "gene" as the only risk factor ("gene-only" model) and the other with main effects of both gene and exposure along with their interaction ("full" model). (bmj.com)
- In simulations, estimates of the gene-environment interaction based on the correctly specified disease model were greatly attenuated and power was diminished appreciably even when errors in exposure were modest. (bmj.com)
- Significant associations were detected more frequently in the gene-only model when errors in exposure were large. (bmj.com)
- This is illustrated in an analysis of the interaction of cumulative exposure to organophosphate pesticides and paraoxonase gene on the risk of chronic neuropsychological effects among farmers who dip sheep. (bmj.com)
- If "gene" contributes to disease risk only in the presence of exposure, the existence of the gene-environment interaction can be efficiently inferred from a deliberately mis-specified "gene-only" disease model in nested case-control studies. (bmj.com)
- Despite these recognised benefits, long-standing concerns regarding the risks of mutagenic and potentially carcinogenic drug exposure have hampered efforts for broad hydroxyurea use in SCA, although these are based largely on outdated experimental models and treatment experiences with myeloproliferative neoplasms. (cdc.gov)
Phenotypic3
- Heritability refers to how much of the phenotypic variance is due to variance in genetic factors. (wikipedia.org)
- Narrow-sense heritability, h2 = VA/VP, refers to the proportion of phenotypic variation that is due to additive genetic values (VA). The phenotypic variance (VP) in a population is influenced by genetic variance (VG) and environmental sources (VE) VP = VG + VE The total amount of genetic variance can be divided into several groups, including additive variance (VA), dominance variance (VD), and epistatic variance (VI). (wikipedia.org)
- 1. The distribution of genetic variance across phenotypic space and the response to selection. (wikipedia.org)
Computational1
- Bower, J. (2001) Computational modeling of genetic and biochemical networks. (scirp.org)
Heritability2
- Usually after we know the total amount of genetic variance that is responsible for a trait, we can calculate the trait heritability. (wikipedia.org)
- In this research, the researchers use the different relationship models to compare estimates of genetic variance components and the heritability. (wikipedia.org)
Organisms5
- and methods and populations for genetic studies of addiction in model organisms. (jax.org)
- Building genetic regulatory network (GRN) can help to understand the regulatory mechanism between genes and the function of organisms. (scirp.org)
- While mass gene editing tricks have been developed for single-celled organisms like bacteria and yeast, this is the first time it has been possible on this scale in an animal. (aau.edu)
- But they see broad applications for biology in general, including research in other model organisms. (aau.edu)
- Genetic model organisms. (lu.se)
Drosophila1
- Zhe Han, Ph.D. , Center for Cancer and Immunology Research , and his team of researchers studied nephrotic syndrome (NS) associated genes in the Drosophila model, which included seven genes that had never been analyzed in a pre-clinical model. (childrensnational.org)
Populations4
- The number of genes associated with autism is increasing, but few studies have been performed on epidemiological cohorts and in isolated populations. (nature.com)
- Several studies investigated families with autism from countries where consanguinity is high, 6 but the genetic architecture of autism in isolated populations remains largely unknown. (nature.com)
- A very similar set of genes is induced in unlesioned animals by administration of the psychostimulant cocaine or the antipsychotic eticlopride, although in distinct striatal cell populations. (jneurosci.org)
- Recent attention has focused on genetic public of Iran and populations elsewhere. (who.int)
Mice2
- In rare cases where the cryopreserved material also contains a recombinase gene, this may be reduced to 1-2 mutant mice. (taconic.com)
- It also shows that genetic research in mice can generate data relevant to human. (rug.nl)
Therapy12
- We seek two talented and motivated postdocs to join the laboratory of Dr Christian Mueller in the Horae Gene Therapy Center at the University of Massachusetts Medical School. (umassmed.edu)
- Under the leadership of Dr GuangPing Gao, the UMMS GTC is one of the top US gene therapy centers, focusing its research efforts on rare diseases of the liver, CNS, and eye, with a state-of-the-art vector core that handles vector production for its researchers. (umassmed.edu)
- Most of these clinicians had never cared for a child with SMA before, nor did they know that lifesaving gene therapy for the condition now exists. (medscape.com)
- The newest addition to the list of approvals is Elevidys, Sarepta's gene therapy for Duchenne muscular dystrophy (DMD). (medscape.com)
- Within the decade, a significant fraction of the pediatric population will have gone through gene therapy, experts told Medscape Medical News . (medscape.com)
- These cases - some before gene therapy and some after - will show up in primary care offices before the textbook is written. (medscape.com)
- Even now, gene therapy is sequestered away in large academic medical research centers. (medscape.com)
- Although they probably will not manage gene-therapy patients on their own - co-managing them instead with subspecialists - they will be involved in the ordering and monitoring of safety labs and other tests. (medscape.com)
- Some of the side effects that come with gene therapy are established. (medscape.com)
- In the 30-90 days after gene therapy, patients need a lot of follow-up for safety reasons. (medscape.com)
- But aftercare for gene therapy will be more than just monitoring and managing side effects. (medscape.com)
- In some cases, gene therapy may largely eliminate the disease. (medscape.com)
Researchers6
- Researchers at the Johns Hopkins Kimmel Cancer Center, three other cancer centers and the Johns Hopkins Bloomberg School of Public Health compiled a comprehensive genetic architecture atlas for mutant RAS genes in human cancers. (news-medical.net)
- During the study, researchers examined several characteristics of the RAS genes. (news-medical.net)
- A new gene editing technique developed by UO researchers compresses what previously would have been years of work into just a few days, making new kinds of research possible in animal models. (aau.edu)
- The researchers tested TARDIS with a gene that gives worms antibiotic resistance. (aau.edu)
- This may aid researchers in the development of therapeutics for growth hormone defects and lead to a greater understanding of the causes of other genetic disorders. (sciencedaily.com)
- While researchers once believed that only genes were transcribed into messenger RNA (mRNA), investigators have recently discovered that non-coding DNA is copied into mRNA as well. (sciencedaily.com)
CRISPR1
- Using CRISPR technology, we knocked out the SPL-encoding gene and phenocopied the Lig 1 mutant. (usda.gov)
Antigen1
- Published last month in The Pediatric Infectious Disease Journal , the study employed a decision analytic model to compare costs and outcomes of flu diagnosis using traditional PCR, direct-fluorescence antibody, rapid antigen tests, and the FilmArray RP. (genomeweb.com)
Transgenic1
- Vertical gene flow from transgenic oilseed rape to non-GM counterparts may also have an impact on farming and supply chain management, depending on labelling thresholds for the adventitious presence of GM material in non-GM products. (cambridge.org)
Regulatory7
- Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease). (medlineplus.gov)
- Ji, R. , Liu, D. and Zhang, W. (2010) The application of hidden markov model in building genetic regulatory network. (scirp.org)
- Hidde, D.J. (2002) Modeling and simulation of genetic regulatory systems: A literature review. (scirp.org)
- 2002) Bayesian methods for elucidating genetic regulatory networks. (scirp.org)
- Zhang, S.-Q., Ching, W.-K. and Yue, J. (2008) Construction and control og genetic regulatory networks: A multivariate Markov chain approach. (scirp.org)
- Zhang, Z.-F. (2004) Constructing and predicting gene regulatory network using micro-array data. (scirp.org)
- Additionally, a genetic network for the MKRN3 gene, mimicking a holistic regulatory depiction of the crosstalk between MKRN3 and other genes was designed. (frontiersin.org)
Outcomes2
- For more than 60 years, newborn screening has been a successful public health program that has resulted in major improvements in outcomes for infants with genetic and other conditions. (cdc.gov)
- A linear regression model was completed with self-identified Black race and EDS total score as the primary independent variables of interest and mean daily CPAP usage at 30 and 90 days serving as the dependent outcomes. (bvsalud.org)
Cancer5
- They studied the cancer type-specific prevalence of KRAS , NRAS and HRAS mutant alleles (alternative forms of a gene) at codons (units of genetic code) 12, 13 and 61 in the overall population and stratified their results by patient age, race and gender. (news-medical.net)
- In this meta-analysis, we included all studies that evaluated the association between LSP1 gene rs3817198 and breast cancer risk. (waocp.com)
- According to our findings, it seems that LSP1 gene rs3817198 polymorphism is associated with breast cancer risk and this risk is more prominent in Caucasians. (waocp.com)
- Genetic component is responsible for 30-40% of familial and only 3-4% of the total number of breast cancer cases [2]. (waocp.com)
- Jihye Kim received an American Association for Cancer Research Scholar-in-Training Award for the work she will be presenting at the AACR Annual Meeting in Chicago, Absolute risk prediction models for pancreatic cancer. (harvard.edu)
Encodes1
- This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix. (nih.gov)
Therapies4
- 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)
- Our team is investigating a variety of genetic therapies. (childrenshospital.org)
- General practitioners "need to know side effects because they are going to deal with side effects when someone calls them in the middle of the night," said Beales, who also is chief executive officer of Axovia Therapeutics, a biotech company developing gene therapies. (medscape.com)
- Adeno-associated virus (AAV) or AAV-mediated gene therapies carry an increased risk for damage to the heart and liver, Nelson said. (medscape.com)
Traits3
- 3. Genetic variance-covariance (G) matrices conveniently summarize the genetic relationships among a suite of traits and are a central parameter in the determination of the multivariate response to selection. (wikipedia.org)
- Distinguishing genetic correlation from causation across 52 diseases and complex traits. (harvard.edu)
- If a gene was found to influence multiple externally visible traits, it was said to be pleiotropic -a term ï¬ rst used in 1910. (icr.org)
Diseases3
- Next steps include using the in vivo models for drug screens in order to identify treatments for kidney diseases that currently lack therapeutic options. (childrensnational.org)
- We trained our model using full spirograms and noisy medical record labels obtained from self-reporting and hospital diagnostic codes, and demonstrated that the machine-learning-based phenotyping approach can be generalized to diseases that lack expert-defined annotations. (nature.com)
- This volume provides an update on retinal diseases, describing the genetic and pathophysiological basis of the diseases and advances in strategies to treat them. (cshlpress.com)
Variation1
- Mechanisms for maintaining genetic information during cell division and the generation of genetic variation: replication, mitosis, meiosis, recombination. (lu.se)
Whole exome1
- All children found negative ( n = 44) for the MKRN3 gene were further investigated by whole exome sequencing (WES). (frontiersin.org)
Clinical2
- Given the highly penetrant nature of NF1, individuals who have an altered NF1 gene will eventually present with some clinical feature of this neurocutaneous syndrome and are at an increased risk of developing benign and/or malignant tumors. (medscape.com)
- Today, it's truly possible to go from genetic discovery to clinical trial within a decade. (childrenshospital.org)
Inflammation1
- Histological analysis showed extensive inflammation of the nasal mucosa with eosinophils and neutrophils dominating in the TDI and LPS models, respectively. (cdc.gov)
Disorders3
- Neurofibromatosis type 1 (NF1) and type 2 (NF2) are neurocutaneous disorders inherited as autosomal dominant genetic syndromes. (medscape.com)
- Genetic disorders as models of mathematics learning disability: Fragile X and Turner syndromes. (bvsalud.org)
- The neurocognition of genetic disorders. (bvsalud.org)
Understand the genetic architecture1
- It also indicates that more knowledge about how multiple genetic hits affect neuronal function will be necessary to fully understand the genetic architecture of autism. (nature.com)
Developmental1
- However, the role of genetic and environmental factors and of their interplay in these developmental associations remains unclear. (biorxiv.org)
Pathways1
- Some genes, such as RELA and GADD45B , were predicted to extensively involve these critical pathways, indicating their potential functions in OA mechanisms. (frontiersin.org)
Results5
- Our results highlight the complex neuroanatomical basis of BD, and reinforce illness models that emphasize impaired brain connectivity. (nih.gov)
- This model suggests that females with the WY combination can produce in all descending gynogenetic generations offspring expressing the three above gynotypes, and this suggestion is consistent with our FI-F3 sex ratio results. (biu.ac.il)
- Avtalion, RR & Don, J 1990, ' Sex‐determining genes in tilapia: a model of genetic recombination emerging from sex ratio results of three generations of diploid gynogenetic Oreochromis aureus ', Journal of Fish Biology , vol. 37, no. 1, pp. 167-173. (biu.ac.il)
- Single cell experiments [ 11 ] could provide iterative validation of models with experimental results. (lu.se)
- And in 4 years, genetic counselor Melissa Gibbons has seen 24 positive results. (medscape.com)
Abstract1
- Map-based cloning of the Liguleless 1 gene regulating architecture in barley [abstract]. (usda.gov)
Mechanisms2
- After more than four decades of intensive research, the cellular origins of acute lymphocytic leukemia (ALL) have been well defined, and several distinct genetic mechanisms that lead to malignant transformation of these cells have been identified ( 1 - 4 ). (aacrjournals.org)
- Our laboratory is interested in the neurobiological and genetic mechanisms of social behavior development, as well as biological mechanisms underlying social motivation, social learning, and social skill acquisition and generalization. (upenn.edu)
Studies9
- Studies of bipolar disorder (BD) suggest a genetic basis of the illness that alters brain function and morphology. (nih.gov)
- Previous genetic studies indicated that individuals from Scotland, Norway, Sweden, Ireland, Iceland, and British Isles have significantly contributed to the current gene pool of the Faroese population. (nature.com)
- ORs and their reported 95% confidence interval (CI) for dominant and recessive inheritance models were extracted from final retrieved studies. (waocp.com)
- Subgroup analysis displayed a significant association in population-based studies and European & American and African population only in the dominant genetic model. (waocp.com)
- In this new research report, the authors state, 'Many studies have provided evidence for the ability of pleiotropy to constrain gene evolution. (icr.org)
- Once again, as with other modern genetic studies in pleiotropy, evolution came up wanting. (icr.org)
- Ask your geneticist or genetic counselor if there are any studies that you or your child might be eligible to join. (childrenshospital.org)
- This approach is complementary to our mouse genetic models and studies of human samples. (sheffield.ac.uk)
- The use of various strains in studies of genes and age related or noise related hearing loss was described. (cdc.gov)
Biology2
- In biology, we spend a lot of time working with genetic mutants. (aau.edu)
- But in animals, we're limited by how many genetic mutants we can make at one time," said Zach Stevenson, a graduate student in the lab of biology professor and interim UO President Patrick Phillips, who helped design the technique. (aau.edu)