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  • genome
  • It was recently proposed that the fixation of duplicate genes is frequently driven by positive selection for increased gene dosage ( i.e ., the gene dosage hypothesis), because haploinsufficient genes were reported to have more paralogs than haplosufficient genes in the human genome. (genetics.org)
  • Yeast haploinsufficient genes do exhibit enhanced retention after whole-genome duplication compared to haplosufficient genes if they encode members of stable protein complexes, but the same phenomenon is absent if the genes do not encode protein complex members, suggesting that the dosage balance effect rather than the dosage effect is the underlying cause of the phenomenon. (genetics.org)
  • GENE duplication is the primary source of new genes ( O hno 1970 ) and duplicate genes are prevalent in virtually every sequenced genome in every domain of life ( Z hang 2003 ). (genetics.org)
  • The likelihood of gene duplication during evolution is measured by gene duplicability, which is the product of the rate of mutation producing duplicate genes and the probability that the duplicates are fixed and retained in the genome ( H e and Z hang 2005a ). (genetics.org)
  • As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. (nih.gov)
  • The unraveling of the human genome may allow us to compare variations at the genetic level with interindividual differences in pain thresholds and pain perception. (jci.org)
  • We conducted a protein-protein interaction (PPI) analysis of gene products coded in loci recently reported to be MS associated at the genome-wide significance level and in loci suggestive of MS association. (jove.com)
  • proteins
  • We explored the properties of these proteins within global and organ-specific interactomes, using multi-scale network features, evaluated their gene expression profiles in different organs and tissues, and assessed their tolerance to loss-of-function variants leveraging data from 60K subjects. (frontiersin.org)
  • At the cellular level, the effect of a drug is the result of its interaction with the target(s), which in time may lead to a variety of cellular responses, such as the alteration of the expression of a set of genes, changes in intracellular signaling pathways, or changes in the localization of proteins, that result in specific cell phenotypic responses. (frontiersin.org)
  • Coevolution of genes that encode interacting proteins expressed on the surfaces of sperm and eggs can lead to variation in reproductive compatibility between mates and reproductive isolation between members of different species. (peerj.com)
  • Previous studies in mice and other mammals have focused in particular on evidence for positive or diversifying selection that shapes the evolution of genes that encode sperm-binding proteins expressed in the egg coat or zona pellucida (ZP). (peerj.com)
  • expression
  • We could demonstrate via RT-PCR the expression of human MECP2 from the CV. (kuleuven.be)
  • In addition, we demonstrated for the first the expression of human transgenes that were inserted into the CV. (kuleuven.be)
  • Histone modifications were chosen due to their extreme conservation and well characterized role as modulators of gene expression in other systems. (unt.edu)
  • Higher expression levels of this gene in some primary colon carcinomas compared to matched normal colon tissues has been observed. (nih.gov)
  • One study found support for the ortholog conjecture, and the other concluded that evolution of gene expression differed in pattern and process between animal phyla vs. within animal phyla. (pnas.org)
  • Here, we examine two recently published studies that compare gene expression across species with pairwise methods, and find reason to question the original conclusions of both. (pnas.org)
  • The other study interpreted pairwise comparisons of embryonic gene expression across distantly related animals as evidence for a distinct evolutionary process that gave rise to phyla. (pnas.org)
  • Isoform 2: Represses SOD3 gene expression. (uniprot.org)
  • Expression of human tissue kallikrein (HK) mRNA was detected in mouse carotid artery, aorta, kidney, heart, and liver, and recombinant HK was present in the urine and plasma of mice receiving HK gene. (ahajournals.org)
  • MicroRNAs (miRNAs) are important genetic elements that regulate the expression of thousands of human genes. (biomedcentral.com)
  • The production of and immunity towards AS-48 depend upon the coordinated expression of ten genes organized in two operons, as-48ABC (where genes encoding enzymes with processing, secretion, and immunity functions are adjacent to the structural as-48A gene) and as-48C1DD1EFGH. (jove.com)
  • In addition, the P2(2) promoter could be regulated in a negative fashion by genes existing in the native pMB-2 plasmid other than those of the as-48 cluster, while the pH seems to affect differently the as-48 promoter expression. (jove.com)
  • Expression of a human gene encoding the PD-associated protein, alpha-synuclein, in C. elegans DA neurons results in dosage and age-dependent neurodegeneration. (jove.com)
  • Our aim was to identify which suggestive regions are more likely to be truly associated, which genes are mostly implicated in the PPI network and their expression profile. (jove.com)
  • alleles
  • Calmodulin mutant alleles rescued the flightless phenotype, and therefore behave as dominant suppressors of the flightless phenotype suggesting that Calmodulin might be a modifier gene in the context of human FHC. (oup.com)
  • 16p11.2
  • Multiple behaviors depend on 16p11.2 dosage. (pnas.org)
  • A ) The relationship between 16p11.2 dosage and distance traveled ( Top ), hanging ( Middle ), and resting ( Bottom ) is shown during the 2-h period immediately after cage transfer ( Left ), the light periods ( Middle ), and the dark periods ( Right ). (pnas.org)
  • Interactions
  • Conversely, alleviating (or positive) interactions can occur between genes in the same pathway or protein complex 2 as the deletion of either gene alone is often sufficient to perturb the normal function of the pathway or complex such that additional perturbations do not reduce activity, and hence growth, further. (jove.com)
  • pathogenesis
  • The identification of genes involved in the origin of autism is expected to increase our understanding of the pathogenesis. (hindawi.com)
  • Identifying and prioritizing disease-related genes are the most important steps for understanding the pathogenesis and discovering the therapeutic targets. (jove.com)
  • The results indicate that identified genes are highly related to some molecular process and biological function, which provides new clues for researching pathogenesis of Parkinson's disease. (jove.com)
  • These findings provide the first evidence for the amplification of a cyclin gene in human esophageal cancer and suggest that an increase in cyclin D gene dosage could be an important factor in the pathogenesis of esophageal cancer. (aacrjournals.org)
  • neurodegeneration
  • Age of onset ranges from infancy to adulthood, and excessive ganglioside accumulation produces progressive neurodegeneration and psychomotor retardation in humans. (jove.com)
  • Organism
  • They assumed that if halving the amount of gene product is deleterious to an organism ( i.e. , haploinsufficiency), doubling the amount would be beneficial. (genetics.org)
  • monogenic
  • Over the past several years, elucidation of the genetic defects underlying three monogenic pain disorders has provided important insights about human pain and its molecular substrates. (jci.org)
  • study
  • In this study, we evaluated the effects of adenovirus-mediated human tissue kallikrein gene (Ad.CMV-cHK) delivery in a mouse model of arterial remodeling induced by permanent alteration in shear stress conditions. (ahajournals.org)
  • This study is the first to associate a component of the RAR pathway with renal agenesis in humans. (genetics.org)
  • Current knowledge and future discoveries will make it necessary to study a huge number of genes that could be involved in a genetic predisposition to cancer. (jove.com)
  • In this regard, we developed a Nextera design to study 11 complete genes involved in DNA damage repair. (jove.com)
  • Results
  • These results provide new insight into the role of the tissue kallikrein-kinin system in vascular remodeling and suggest the application of HK gene therapy to treat restenosis and atherosclerosis. (ahajournals.org)
  • histone
  • The involvement of the histone fold motifs in the mutual interaction between human TAF(II)80 and TAF(II)22. (nih.gov)
  • stable
  • To investigate the correlation between warfarin stable dosage and demographic factors in patients undergoing valve replacement in Western China and then guide individualized anticoagulant therapy. (alliedacademies.org)
  • From MCCT database of low intensity anticoagulation therapy for Chinese population with heart valve replacement, a total of 236 patients who underwent valve replacement in the Han population were selected as the objects, the demographic factors including age, height, weight, body surface area, body mass index and clinical factors were observed and the correlation was compared between above indexes and warfarin stable dosage followed by obtainment of individual anticoagulation equation. (alliedacademies.org)
  • There is correlation between warfarin stable dosage and demographic factors in patients undergoing valve replacement in Western China and the effects of demographic factors on warfarin should be taken into consideration in the case of warfarin therapy. (alliedacademies.org)
  • billions
  • While humans have billions of neurons, the microscopic roundworm Caenorhabditis elegans has precisely 302, of which only eight produce dopamine (DA) in hemaphrodites. (jove.com)
  • organs
  • CRISPR-Cas9 adapts that technique to allow us to edit genes, removing harmful diseases and even allowing the creation of hybrid human-animal organs to fill the transplant gap . (cnn.com)
  • Scientists hope these human cells can be harnessed to create organs for transplant patients one day. (cnn.com)
  • transcription
  • Crystal structure of a subcomplex of human transcription factor TFIID formed by TATA binding protein-associated factors hTAF4 (hTAF(II)135) and hTAF12 (hTAF(II)20). (nih.gov)
  • This gene is a member of a small family of zinc finger transcription factors that play an important role in the regulation of cellular differentiation and organogenesis during vertebrate development. (nih.gov)
  • known
  • The voltage-gated sodium-channel type IX α subunit, known as Na v 1.7 and encoded by the gene SCN9A , is located in peripheral neurons and plays an important role in action potential production in these cells. (jci.org)
  • neurons
  • Worms expressing human alpha-synuclein in DA neurons are isogenic and express both GFP and human alpha-synuclein under the DA transporter promoter (Pdat-1). (jove.com)
  • microscopic
  • This microscopic image shows human induced pluripotent stem cells, colored red, integrated into a pig embryo. (cnn.com)
  • Primary
  • Select patients with g BRCA m advanced epithelial ovarian, fallopian tube or primary peritoneal cancer for therapy based on an FDA-approved companion diagnostic for Lynparza [see DOSAGE AND ADMINISTRATION ]. (rxlist.com)