• At least 33 mutations in the SOX2 gene have been found to cause SOX2 anophthalmia syndrome. (medlineplus.gov)
  • Some of these mutations prevent the gene from making any SOX2 protein, while others result in the production of an abnormally short, nonfunctional version of the protein. (medlineplus.gov)
  • All of these mutations disrupt the protein's ability to regulate genes essential for normal development of the eyes and other parts of the body. (medlineplus.gov)
  • Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. (medlineplus.gov)
  • Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
  • Mutations in this gene have been associated with an autosomal dominant form of cognitive disability and with autism spectrum disorder. (nih.gov)
  • Genetic drivers are mutations or fusions that confer a survival advantage to "drive" malignant proliferation. (medscape.com)
  • [ 3 ] Loss of function mutations in this gene are implicated in pediatric retinoblastoma. (medscape.com)
  • Several pax genes have also been associated with developmental mutations including: pax-3, which is associated with Waardenburg syndrome, pax-6, which is associated with Aniridia, and pax-2, which is associated with Wilms tumor. (thermofisher.com)
  • In a population of genetically diverse individuals, the extent of genetic variation of a phenotype measures the overall sensitivity of individuals to mutations segregating in the population. (nature.com)
  • CDA I is due to mutations in the CDAN1 gene (15q15.2), coding for a histone chaperone interacting protein, or in the C15ORF41 gene (15q14), coding for a predicted endonuclease putatively involved in DNA replication and/or chromatin assembly. (orpha.net)
  • Since some cases of CDA I have no known mutations in any of these two genes, a third locus may exist. (orpha.net)
  • Most cases of CDA II are caused by mutations in the SEC23B gene (20p11.23), coding for a coating protein involved in reticulum-Golgi trafficking. (orpha.net)
  • CDA III is due to mutations in the KIF23 gene (15q23), encoding a conserved mitotic kinesin (MKLP1) crucial for cytokinesis. (orpha.net)
  • The last 2 CDA types are caused by mutations in the erythroid transcription factor genes KLF1 (19p13.2) and GATA1 (Xp11.23). (orpha.net)
  • and (3) Rapp-Hodgkin syndrome, all of which are caused by mutations in the TP63 gene. (medscape.com)
  • At least three mutations in the MESP2 gene have been found to cause spondylothoracic dysostosis, a condition characterized by abnormal development of bones in the spine and ribs. (medlineplus.gov)
  • Mutations in the MESP2 gene prevent the production of any protein or lead to the production of an abnormally short, nonfunctional protein. (medlineplus.gov)
  • Like the Butterfly effect, these somatic mutations lead to a series of regulatory function changes, including gene expression dysregulation. (hep.com.cn)
  • hypothesized that associations between gene expression and somatic mutations can be translated into the associations between gene expression and mutational signatures for showing the regulation effects between somatic mutation and gene expression dysregulation. (hep.com.cn)
  • This work reveals the key message that some somatic mutations can lead to gene expression alteration consequences. (hep.com.cn)
  • However, cancer cells overcome these controls, in particular by acquiring genetic mutations leading to the activation of oncogenes (pten, myc) or loss of tumor suppressors (p53) [ 1 ]. (hindawi.com)
  • [ 2 , 3 , 4 ] A full list of the described mutations is available at the TBX5 Gene Mutation Database , an online locus-specific database that contains germline and somatic mutations of the TBX5 gene. (medscape.com)
  • Mutations of this gene introduce a premature stop codon and result in truncated protein versions. (medscape.com)
  • Human genetic studies have identified mutations in the sodium channel SCN5A gene causing tachyarrhythmia disorders, as well as progressive cardiac conduction system diseases, or overlapping syndromes. (medscape.com)
  • There are a myriad of mutations identified in genes encoding cardiac transcription factors, ion channels, gap junctions, energy metabolism regulators, lamins and other structural proteins. (medscape.com)
  • High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism. (cdc.gov)
  • Proteins are the product of a gene that are formed from translation of a mature mRNA molecule. (wikipedia.org)
  • Tumor suppressor genes encode proteins that normally provide negative control of cell proliferation. (medscape.com)
  • Cells regulate the expression of their genes with proteins called transcription factors,' said co-corresponding author Dr. Josephine C. Ferreon, assistant professor of pharmacology and chemical biology and member of the Dan L Duncan Comprehensive Cancer Center at Baylor. (news-medical.net)
  • A cell's genetic information is packed in chromatin, a complex, compact, dense structure made of DNA and proteins. (news-medical.net)
  • Hundreds of human transcription factors contain tandem zinc fingers like those in KLF4, so this class of rapidly evolving proteins may be implicated in chromatin organization through similar 'bridging' interactions,' said MacKenzie. (news-medical.net)
  • As a largest plant-specific transcription factor family, NAC domain proteins play an important role in plant development and regulation of abiotic stress tolerance. (frontiersin.org)
  • Transcription factors are special proteins that help ensure that the right genes are expressed in the right cells of the body at the right time. (thebraintumourcharity.org)
  • In the classical view, the steady states of a dynamical system modeling the genes, mRNAs, and proteins in this network are identified with the above two types of states. (aps.org)
  • In chapter 2, by using CRISPR/Cas9 gene editing, genetic analysis and biochemical assays, I identified the differential pairings of typical NLR receptor SOC3 with atypical NLR proteins CHS1 or TN2 to guard the homeostasis of the E3 ligase SAUL1. (ubc.ca)
  • Gene expression generally produces proteins, but there are also non-coding genes that produce RNA molecules (rRNA, tRNA). (lu.se)
  • Transcription factors are a group of proteins that are needed for a gene to start being copied to RNA, i.e. for transcription to start. (lu.se)
  • The protein structure that surrounds the DNA, chromatin, largely comprises histone proteins and can be open or closed and thus allow or prevent factors binding to the DNA. (lu.se)
  • It is not only the genes that code for proteins that are methylated, but also parts of the DNA that code for regulatory functions (RNA molecules), which can have a greater effect than genes. (lu.se)
  • LMX1B encodes a LIM-homeodomain transcription factor. (nih.gov)
  • This gene encodes the GA-binding protein transcription factor, beta subunit. (nih.gov)
  • This gene encodes a member of the zinc finger superfamily of transcription factors whose expression, thus far, has been found only in neuronal tissues. (nih.gov)
  • RB1 encodes the protein pRB and was the first tumor suppressor gene to be molecularly defined. (medscape.com)
  • The maize homeobox gene knotted1 ( kn1 ) encodes an AP2/ERF transcription factor (Hake et al. (springer.com)
  • Gene ID: 5925, OMIM 614041 ) gene, which encodes a tumor suppressor protein. (molvis.org)
  • 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)
  • Lee H, Guo Y, Ohta M, Xiong L, Stevenson B, Zhu JK (2002) LOS2, a genetic locus required for cold-responsive gene transcription encodes a bi-functional enolase. (springer.com)
  • The responsible gene has been mapped to band 12q24.1, which encodes the human transcription factor TBX5. (medscape.com)
  • The most common chromosomal translocation is the FUS-CHOP fusion gene, which encodes a transcription factor necessary for adipocyte differentiation. (medscape.com)
  • This protein forms a tetrameric complex with the alpha subunit, and stimulates transcription of target genes. (nih.gov)
  • The breakthrough was in realizing that we could leverage deep learning and massive datasets of tissue-level TF binding profiles to understand how TFs regulate target genes in individual cells through specific signals," Xie said. (ddw-online.com)
  • Known cancer drivers, transcription factors and genes in the developmental, apoptosis, immune system and DNA integrity checkpoint gene ontology pathways were over-represented among the highest-confidence target genes. (lu.se)
  • Forced expression of this gene in combination with the basic helix-loop-helix transcription factor NeuroD1 and the transcription factors POU class 3 homeobox 2 and achaete-scute family basic helix-loop-helix transcription factor 1 can convert fetal and postnatal human fibroblasts into induced neuronal cells, which are able to generate action potentials. (nih.gov)
  • Next, the importance of embryonic developmental genes such as homeobox and T-box transcription factors are highlighted in conduction system development and function. (medscape.com)
  • A web-based survey on various symptoms of computer vision syndrome and the genetic understanding based on a multi-trait genome-wide association study. (nih.gov)
  • High transformation efficiency of citrus is of great importance for large scale characterization of gene functions and also cultivar development via transgenic and genome editing technologies. (springer.com)
  • Using whole-genome quantitative gene expression as a model, here we study how the genetic architecture of regulatory variation in gene expression changed in a population of fully sequenced inbred Drosophila melanogaster strains when flies developed in different environments (25 °C and 18 °C). We find a substantial fraction of the transcriptome exhibited genotype by environment interaction, implicating environmentally plastic genetic architecture of gene expression. (nature.com)
  • In conclusion, this study will serve as a reference for studying the relationship between gene family evolution and genome duplication. (unl.edu)
  • The fully sequenced genome, since compact and unduplicated, gives acces to regulatory DNA segments, isolated for reporter gene essays in vivo . (uibk.ac.at)
  • Remarkable progress in science and technology has led to the development of powerful tools for genome sequencing and editing increasing ability to study gene expression and function at multiple levels from cells to populations. (cdc.gov)
  • To understand the molecular basis of observed regional shifts in the genome types of adenovirus type 7 (Ad7) isolated in Korea during nationwide outbreaks from 1995 to 2000, the genetic variabilities of Ad7d and Ad7l were studied by sequence analysis of hexon, fiber, E3, and E4 open reading frame (ORF) 6/7 peptides. (cdc.gov)
  • Previously, sequence variations among the different genome types of Ad7 strains have been observed at 2 variable regions of the hexon gene and in a 14.9-kDa protein encoded by an ORF in the E3 region ( 6 , 14 ). (cdc.gov)
  • This study was undertaken to determine genetic differences and to understand the molecular basis of regional shifts observed in the genome types of Ad7 isolated in Korea. (cdc.gov)
  • A cardiomelic developmental field has also been postulated to relate the genetic heterogeneity of HOS (and other similar syndromes) to a cascade of molecules, including the brachyury, sonic hedgehog, bone morphogenetic protein, retinoic acid receptor, and transforming growth factor beta families. (medscape.com)
  • Abnormalities in cardiac conduction can occur due to a variety of factors, including developmental and congenital defects, acquired injury or ischemia of portions of the conduction system, or less commonly due to inherited diseases that alter cardiac conduction system function. (medscape.com)
  • 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)
  • By training a neural network on large-scale genomic and epigenetic datasets, and by drawing on the expertise of collaborators across three departments, the researchers were able to identify novel gene regulations for individual cells or cell types. (ddw-online.com)
  • For example, the UK Biobank , a leading cohort study of half a million persons, has collected genomic, clinical and risk factor information and has contributed to numerous discoveries in human genetics. (cdc.gov)
  • Greater availability of African genomes will improve our understanding of the role of genomic variation in genetic diseases and common complex diseases in all populations. (cdc.gov)
  • Their expression in tumour cells is modulated by a complex interplay of genomic, transcriptomic and post translational factors involving multiple intracellular antigen processing pathways. (portlandpress.com)
  • In parallel, we used a Bayesian approach (PAINTOR) that combines genetic association, linkage disequilibrium and enriched genomic features to determine variants with high posterior probabilities of being causal. (lu.se)
  • SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. (medlineplus.gov)
  • Pooled CRISPR screen is a promising tool in drug targets or essential genes identification combined with different phenotype readouts. (hep.com.cn)
  • R62D-induced phenotypes strongly resemble neurons lacking SRF (Serum Response Factor). (jneurosci.org)
  • In addition to environmental factors, phenotypes can also respond to genetic perturbations in a plastic or homeostatic manner, which characterizes the potential of an organism to express phenotypes when genes mutate. (nature.com)
  • This protein regulates the activity of other genes by attaching (binding) to specific regions of DNA. (medlineplus.gov)
  • Thus, LMX1B regulates the expression of multiple podocyte genes critical for podocyte differentiation and function. (nih.gov)
  • Conversely, actin signaling regulates neuronal SRF-mediated gene expression. (jneurosci.org)
  • The MESP2 protein regulates Notch activity by turning on (activating) genes in the Notch pathway, which ultimately block (repress) the activity of the NOTCH1 protein. (medlineplus.gov)
  • Bethke G, Unthan T, Uhrig JF, Poschl Y, Gust AA, Scheel D, Lee J (2009) Flg22 regulates the release of an ethylene response factor substrate from MAP kinase 6 in Arabidopsis thaliana via ethylene signaling. (springer.com)
  • DNA methylation is a chemical process that regulates the function of the genes. (lu.se)
  • Moreover, it will provide rich genetic resources for functional Cucurbitaceae studies in the future. (unl.edu)
  • Such DNA constructs, when electroporated in fertilised eggs, produce transiently transgenic embryos and allow rapid gene functional and gene regulatory analyses , in precisely identifyable tissue precursors, from earliest embryonic stages in vivo . (uibk.ac.at)
  • These findings suggest a functional role of AP-2 transcription factors in preventing lactogenesis. (biomedcentral.com)
  • Objective: The aim of this study was to identify DA-associated functional genetic variants through next-generation sequencing (NGS), bioinformatics, and functional assays. (cdc.gov)
  • We applied our INQUSIT pipeline for prioritizing genes as targets of those potentially causal variants, using gene expression (expression quantitative trait loci), chromatin interaction and functional annotations. (lu.se)
  • A gene, the basic unit of heredity, is a segment of DNA containing all the information necessary to synthesize a polypeptide (protein) or a functional RNA molecule. (msdmanuals.com)
  • The 23rd pair, the sex chromosomes (X and Y), determines a person's sex as well as containing other functional genes. (msdmanuals.com)
  • The SOX2 gene provides instructions for making a protein that plays a critical role in the formation of many different tissues and organs during embryonic development. (medlineplus.gov)
  • The pax genes are a family of transcription factors that are active in specific tissues during early embryonic development. (thermofisher.com)
  • To unravel fundamental genetic mechanisms that control cell fate choice in vivo , we study embryonic development in a simple marine invertebrate, the ascidian Ciona intestinalis , belonging to the vertebrate sister group, the tunicates. (uibk.ac.at)
  • The MESP2 protein controls the activity of genes in the Notch pathway, an important pathway in embryonic development. (medlineplus.gov)
  • The T-box gene family is a group of related genes that play a critical role in human embryonic development. (medscape.com)
  • An efficient genetic transformation protocol is a key step for using transgenic technologies to improve citrus quality, productivity, and resistance to abiotic and biotic stresses such as HLB. (springer.com)
  • Another challenge to using transgenic plant technology in citrus is the long juvenile phase of immature tissues that ranges from 5 to 20 years, which greatly delays analysis of the effects of candidate genes. (springer.com)
  • On the other hand, transgenic plants produced from mature tissue via genetic transformation can drastically shorten flowering and fruiting time and thus speed up field evaluation studies. (springer.com)
  • Our results indicated that CmNAC1 is a critical factor in ABA signaling pathways and it can be utilized in transgenic breeding to improve the abiotic stress tolerance of crops. (frontiersin.org)
  • Transcription factors AP-2alpha and AP-2gamma are downregulated during lactation, and their overexpression in transgenic mice impaired the secretory differentiation of the mammary epithelium, resulting in lactation failure. (biomedcentral.com)
  • Identification of transcription factors interacting with a 1274 bp promoter of MaPIP1;1 which confers high-level gene expression and drought stress Inducibility in transgenic Arabidopsis thaliana. (bvsalud.org)
  • In combination with transgenic organisms, such enzyme-actuated antisense tools will enable gene silencing in specific cell types, including tissues that are not amenable to optical targeting. (cdc.gov)
  • Supervised analysis of kinase genes revealed a high-level FLT3 expression in a subset of cases without molecular rearrangements. (aacrjournals.org)
  • 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)
  • Increased cAMP can activate protein kinase A, which phosphorylates the transcription factor cAMP response element-binding protein (CREB). (jneurosci.org)
  • Multiple transcript variants encoding distinct isoforms have been identified for this gene. (nih.gov)
  • Association study of performance-related polymorphisms in Brazilian combat-sport athletes highlights variants in the GABPB1 gene. (nih.gov)
  • Transcription factor 7-like 2 ( TCF7L2 ) variants have been associated with type 2 diabetes mellitus (T2DM) in multiple ethnic groups. (medscape.com)
  • This makes TCF7L2 variants the strongest known genetic risk factors for T2DM. (medscape.com)
  • [ 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)
  • [ 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)
  • Pharmacogenetic studies have been also performed in order to evaluate the role of host genetic variants in the prediction of recurrence risk and response to adjuvant treatment with FLs and OXA. (frontiersin.org)
  • Genetic variants with gene regulatory effects are associated with diisocyanate -induced asthma. (cdc.gov)
  • Four variants exhibited effects on gene regulation (ATF rs11571537, CDH17 rs2446824 and rs2513789, and TACR1 rs2287231). (cdc.gov)
  • These results demonstrate that many DA-associated genetic variants likely act by modulating gene regulation. (cdc.gov)
  • Potentially causal variants were significantly over-represented in active gene regulatory regions and transcription factor binding sites. (lu.se)
  • DMRs show continuous gain or loss of methylation during differentiation, and the overall change in DNA methylation correlates inversely with gene expression at key loci. (lu.se)
  • Secretory epithelial cells display lactogenic differentiation which is characterized by the expression of milk protein genes, such as beta-casein or whey acidic protein (WAP). (biomedcentral.com)
  • Using RT-PCR we could not detect a downregulation of any of these genes during the lactogenic differentiation of HC11 cells in vitro. (biomedcentral.com)
  • Downregulation of AP-2 transcription factor genes is not required for lactogenic differentiation of HC11 cells but may functionally be involved in aspects of lactogenic differentiation in vivo that are not reflected by the HC11 system. (biomedcentral.com)
  • The lactogenic differentiation of the secretory epithelial cells is characterized by the synthesis of lactose and milk fat and by the expression of milk protein genes, such as beta-casein or whey acidic protein (WAP). (biomedcentral.com)
  • In this report we analyzed AP-2 transcription factor expression in HC11 cells subjected to lactogenic differentiation conditions. (biomedcentral.com)
  • the smaller Y chromosome carries genes that initiate male sex differentiation, as well as a few other genes. (msdmanuals.com)
  • 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)
  • Twenty-two of the pairs, chromosome numbers 1 to 22, the autosomes, are normally homologous (identical in size, shape, and position and number of genes). (msdmanuals.com)
  • The genes that occupy the same locus on each chromosome of a pair (one inherited from the mother and one from the father) are called alleles. (msdmanuals.com)
  • A chromosome contains many genes. (msdmanuals.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)
  • Each gene has a specific location (locus), which is typically the same on each of the 2 homologous chromosomes. (msdmanuals.com)
  • BCR/ABL + gene expression pattern was more heterogeneous and was most similar to ALL without known molecular rearrangements. (aacrjournals.org)
  • 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)
  • With all six genotypes of citrus tested including Eureka lemon, a cultivar difficult to be transformed, our results demonstrate that the kn1 gene may provide an effective molecular tool to enhance genetic transformation efficiencies of various citrus varieties. (springer.com)
  • Expressing a particular gene requires that the gene expression molecular machinery has access to that stretch of DNA. (news-medical.net)
  • 2) the genetic and molecular basis for ascidian bioadhesion motivated by the search for novel biomimetic reagents. (uibk.ac.at)
  • The identification of FOXM1 as a master transcription factor for meningioma proliferation provides a potential molecular target with prognostic and therapeutic significance," said Dr Daniel Raleigh, senior co-author of the study. (thebraintumourcharity.org)
  • Together our results revealed that MaPIP1;1 mediates molecular mechanisms associated with drought responses in banana , and will expand our understanding of how AQP gene expression is regulated. (bvsalud.org)
  • TFs regulate genes to ensure they're expressed in proper sequence and at the right time in cells. (ddw-online.com)
  • Finally, although genotype by environment interaction in gene expression could potentially disrupt genetic networks, the co-expression networks are highly conserved across environments. (nature.com)
  • Although the majority of expression quantitative trait loci (eQTLs) for the gene expression traits in the two environments are shared and have similar effects, analysis of the environment-specific eQTLs reveals enrichment of binding sites for two transcription factors. (nature.com)
  • For 14 cell types, we identified 26,597 independent cis-expression quantitative trait loci (eQTLs), and 62,305 trans-eQTL, with the majority showing cell type specific effects on gene expression. (iscb.org)
  • Shimeld, S.M. (2022): Hmx gene conservation identifies the origin of vertebrate cranial ganglia. (uibk.ac.at)
  • Conventional MOs are typically used to constitutively disrupt targeted genes in an organism-wide manner. (cdc.gov)
  • A gene product is the biochemical material, either RNA or protein, resulting from expression of a gene. (wikipedia.org)
  • In 1941, Beadle and Tatum proposed on the basis of their study of mutants of the fungus Neurospora sitophila that genes control specific biochemical reactions. (wikipedia.org)
  • Biochemical studies suggest that in one case this transcription factors to implement particular genetic programs. (lu.se)
  • We develop a computational model for the hematopoietic erythroid-myeloid lineage decision, which is determined by a genetic switch involving the genes PU.1 and GATA-1. (lu.se)
  • The genetic switch, which handles the erythroid-myeloid lineage decision, is an example of a network that implements both a primed and a committed state by regulating cooperativity through recruitment of cofactors. (lu.se)
  • However, prior to commitment, it has been cells, it is evident that GATA-1 and PU.1 are able to specify observed that many genes are expressed at intermediate or basal erythroid and myeloid cell fates (see [16] and references therein). (lu.se)
  • We focus on novel combinatorial codes for transcription factors as nuclear effectors of major signaling pathways, including Wnt and FGF/MEK signaling. (uibk.ac.at)
  • DNA (deoxyribonucleic acid) is the cell's genetic material, contained in chromosomes within the cell nucleus and mitochondria. (msdmanuals.com)
  • This genetic resource will aid in isolating the celastrol biosynthetic genes as well as engineering the celastrol biosynthesis pathway. (techscience.com)
  • With the recent identification of the causative genetic defect for a number of the ectodermal dysplasias, newer classification systems have been devised. (medscape.com)
  • Targeted next-generation sequencing of thirteen causative genes in Chinese patients with congenital hypothyroidism. (cdc.gov)
  • We identified several LMX1B binding sites in the putative regulatory regions of both CD2AP and NPHS2 (podocin) and demonstrated that LMX1B binds to these sequences in vitro and can activate transcription through them in cotransfection assays. (nih.gov)
  • DNA constructs were cloned into a pGL3 promoter vector for luciferase gene reporter assays. (cdc.gov)
  • Change in genetic variation across environments is one of the many forms of genotype by environment interaction (G×E). G×E can be interpreted equivalently either as variable genetic architecture across environments or as variable environmental plasticity across genotypes, depending on what factor is chosen as the context. (nature.com)
  • In an dual luciferase assay for complementarity verification, the transcription factor MADS3 positively regulated MaPIP1;1 transcription when combined with the banana promoter. (bvsalud.org)
  • In the luciferase assay 4 of the 21 SNPs exhibited allele-dependent changes in gene expression. (cdc.gov)
  • The effects of a maize knotted1 ( kn1) gene under the control of the cauliflower mosaic virus 35S promoter on genetic transformation efficiencies of six citrus genotypes were tested. (springer.com)
  • We also demonstrated that the −657 to +411 DCT promoter fragment efficiently directs RB cell-specific transcription of the luciferase reporter gene in cell lines. (molvis.org)
  • The regulatory elements required for this cell-specific gene expression are likely located within its proximal promoter. (molvis.org)
  • Our starting point is a mechanistic model formulated in the language of chemical reaction networks that describe promoter binding together with transcription/translation. (aps.org)
  • This region of the promoter also confers high levels of gene expression in response to mannitol treatment . (bvsalud.org)
  • In front of every gene is a DNA sequence called a promoter. (lu.se)
  • Transcription factors bind alongside the promoter and set off the gene expression. (lu.se)
  • Enhancer function requires transcription factor (TF) binding and correlates with histone modifications. (biorxiv.org)
  • Formation of this biomolecular condensate is strongly enhanced by a DNA modification called CpG methylation, a change that influences gene expression,' said co-corresponding author Dr. Kevin MacKenzie, associate professor of pathology and immunology and of pharmacology and chemical biology at Baylor. (news-medical.net)
  • The induced mRNAs include both novel and previously described genes, with diverse time courses of expression. (jneurosci.org)
  • To characterize gene expression signatures in acute lymphocytic leukemia (ALL) cells associated with known genotypic abnormalities in adult patients. (aacrjournals.org)
  • 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)
  • In addition to regulation of cytoplasmic cytoskeletal dynamics, a little appreciated property of actin signaling is modulation of gene expression so far only reported for non-neuronal cells. (jneurosci.org)
  • Researchers repaired what is otherwise irreversible damage in the animals' ocular neurons, by activating transcription factors ordinarily used to generate induced pluripotent stem cells. (the-scientist.com)
  • ABOVE: A mouse's crushed optic nerve, composed of retinal ganglion cell axons (bright streaks), regenerates after researchers injected a virus into the eye that contains genes whose activity dedifferentiates cells into a more youthful state, allowing them to regrow. (the-scientist.com)
  • In an attempt to address these issues with a genetic intervention, scientists reprogrammed neurons in mouse eyes to regrow after inducing glaucoma or crushing the optic nerve, and restored visual acuity in healthy, middle-aged mice to that of younger mice by expressing a set of genes known to revert cells to a pluripotent state, according to a study published in Nature Wednesday (December 2). (the-scientist.com)
  • These so-called Yamanaka factors, named after biologist Shinya Yamanaka, are widely used to generate induced pluripotent stem cells (iPSCs). (the-scientist.com)
  • A risk of using Yamanaka factors in vivo is that dedifferentiation can cause cells to divide rapidly, so researchers in the Cell study only turned them on in short bursts. (the-scientist.com)
  • By conducting experiments with cells grown in the lab, the researchers discovered that KLF4 forms droplets in the cell nucleus that recruit other transcription factors. (news-medical.net)
  • Other transcription factors participate in biomolecular condensation through unstructured protein regions, but the researchers showed that KLF4 droplets form in cells even if its unstructured regions are not present. (news-medical.net)
  • Transactivation assay in yeast cells revealed that CmNAC1 functions as a transcription activator, and its transactivation domain is located in the C-terminus. (frontiersin.org)
  • Differentiating HC11 cells displayed lower expression levels of milk protein genes than mammary glands of mid-pregnant or lactating mice. (biomedcentral.com)
  • Thus we have identified novel components of a complex, coordinated genetic program that is induced in striatal cells in response to various dopaminergic manipulations. (jneurosci.org)
  • In normal cells, the fate of pyruvate depends on many factors, one of which is oxygen availability. (hindawi.com)
  • In contrast, cancer cells shift their metabolism toward lactate production even in the presence of oxygen [ 4 ], partly through genetic modifications that stabilize the transcription factor Hypoxia Inducible Factor (HIF) involved in the adaptation of the cells to hypoxia, under nonhypoxic conditions as well as generating an adaptive response to the hypoxic microenvironment (Figure 1 ). (hindawi.com)
  • Even if the DNA sequence - the set of genes - is the same in all cells, only certain genes are expressed, i.e. only information from certain genes is copied (transcribed) and used to build protein structures or regulate processes. (lu.se)
  • The gene expression varies between different types of cell and when these epigenetic changes are inherited by daughter cells through cell division in the womb, different tissues and organs are built. (lu.se)
  • Registration of 252 sequenced sorghum mutants as a community reverse genetic resource. (usda.gov)
  • The polyphagous mutants, Bt and spli were analyzed to understand the genetic basis of mulberry feeding in Bombyx. (nii.ac.jp)
  • We found that a transcription factor gene (Bmacj6) was defective in the mutants. (nii.ac.jp)
  • The expression of the genes encoding olfactory receptors and so on was over- or mis-expressed in sensory organs of the mutants. (nii.ac.jp)
  • Using CRISPR technology, we knocked out the SPL-encoding gene and phenocopied the Lig 1 mutant. (usda.gov)
  • These genetic changes can occur by multiple mechanisms that can be inherited (found in the germline) or acquired (somatic). (medscape.com)
  • The genetic regulatory network consisting of the Oct4, Nanog, and TET transcription factors (TF's) is understood to control cell fate, specifically the transitions between somatic and pluripotent states. (aps.org)
  • These and other distinct genetic aberrations may aid in the diagnosis of particular liposarcoma subtypes, and they can potentially be targets that can be exploited therapeutically. (medscape.com)
  • Overall, disease was linked to BRCA1 in an estimated 52% of families, to BRCA2 in 32% of families, and to neither gene in 16% (95% confidence interval [CI] 6%-28%), suggesting other predisposition genes. (nih.gov)
  • Short-interfering RNA (siRNA) also work by negative regulation of transcription. (wikipedia.org)
  • Gene-Expression Analysis of Cell-Cycle Regulation Genes in Virus-Infected Rice Leaves. (routledge.com)
  • MicroRNAs perform important roles in the post-transcriptional regulation of gene expression. (researchsquare.com)
  • Scientists at the University of California, Irvine have developed a new deep-learning framework that predicts gene regulation at the single-cell level. (ddw-online.com)
  • In a study published recently in Science Advances, UCI researchers describe how the technique can also be successfully used to observe gene regulation at the cellular level. (ddw-online.com)
  • [ 8 ] Other classification systems categorize the ectodermal dysplasias based on defects in cell-cell communication and signaling, adhesion, transcription regulation, or development. (medscape.com)
  • Abnormal amounts of gene product can be correlated with disease-causing alleles, such as the overactivity of oncogenes which can cause cancer. (wikipedia.org)
  • Individual miRNAs are capable of regulating gene networks by interacting with multiple targets or by suppressing transcriptional controllers [ 6 , 8 ]. (researchsquare.com)
  • We reviewed published microarray and RNA sequencing studies in which gene expression profiles were compared between human RB and normal retina tissues. (molvis.org)
  • Implementing large scale studies across different populations could substantially enhance efforts to uncover the role of genetic factors in various diseases. (cdc.gov)
  • SRF controls gene transcription of various actin isoforms (e.g. (jneurosci.org)
  • Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. (nih.gov)
  • At a fundamental level, cancer is caused by an accumulation of genetic changes that result in unregulated cell growth and proliferation. (medscape.com)
  • To avoid such out-of-control proliferation, which would risk causing cancerous growth, Sinclair's team eliminated one of the Yamanaka factors from their study- MYC , which is a known oncogene-and fitted the remaining three into an adeno-associated virus and injected it into mice. (the-scientist.com)
  • Our aim was to integrate our previously reported clinical-genetic prognostic score with new immunogenetic markers of 5-year disease-free survival (DFS) to evaluate the recurrence risk stratification before fluoropyrimidine (FL)-based adjuvant therapy. (frontiersin.org)
  • The integration of IFNG -rs1861494 in our previous clinical genetic multiparametric score of DFS improved the patients' risk stratification (Log-rank P = 0.0026 in the pooled population). (frontiersin.org)
  • The development of caged MOs (cMOs) has significantly extended the versatility of these reverse-genetic tools. (cdc.gov)
  • Association of single nucleotide polymorphisms in the nuclear respiratory factor-2 beta subunit-encoding the GABPB1 gene within the occupational environment. (nih.gov)
  • Our analysis also reveals a novel enhancer set associated with housekeeping genes. (biorxiv.org)
  • Differential gene expression analysis identified a number of root-specific CYP genes. (techscience.com)
  • Finally, we conducted a comprehensive analysis of the TCP gene family and identified 16 tendril-related ( TEN ) genes in 11 Cucurbitaceae species. (unl.edu)
  • Genetic analysis of the paired box transcription factor (PAX8) gene in a cohort of Polish patients with primary congenital hypothyroidism and dysgenetic thyroid glands. (cdc.gov)
  • Mutation analysis of the NKX2.5 gene in Iranian pediatric patients with congenital hypothyroidism. (cdc.gov)
  • Dynamical models based upon known interactions between these master genes, such as mutual antagonism and autoregulation, fail to make the system bistable, a desired feature for robust lineage determination. (lu.se)
  • In the current study, we focused on master transcription factor KLF4, which is known to selectively mediate gene expression and reprogramming that determines cell fate. (news-medical.net)