• Mutation of this gene results in neuropathy and optic atrophy. (nih.gov)
  • Patients with FA gene mutation are hypersensitive to DNA damage and unable to successfully repair damaged DNA when exposed to DNA-crosslinking agents, cytotoxic chemotherapeutics, and ionizing radiation ( 3 , 4 ). (frontiersin.org)
  • Throughout the lifetime of patients with an FA gene mutation, DNA damage increasing accumulates, which would lead to a complex clinically and genetically heterogeneous disorder characterized by developmental abnormalities, bone marrow failure (BMF), immune deficiency, and a high risk of developing various cancers (e.g. (frontiersin.org)
  • When the FIP1L1-PDGFRA fusion gene mutation or point mutations in the PDGFRA gene occur in blood cell precursors, the growth of eosinophils (and occasionally other blood cells, such as neutrophils and mast cells) is poorly controlled, leading to PDGFRA -associated chronic eosinophilic leukemia. (medlineplus.gov)
  • CMT 1 is also caused by the mutation around the PMP22 gene or duplication, making it the most popular kind of CMT. (harcourthealth.com)
  • While t(8;21) is important for leukemia development, a mutation in one or more additional genes is typically needed for the myeloid blasts to develop into cancerous leukemia cells. (medlineplus.gov)
  • Depending on the type of mutation, these conditions can be related to impaired regulation of gene activity or loss of normal gene function. (medlineplus.gov)
  • The most common mutation that causes Ewing sarcoma involves two genes, the EWSR1 gene on chromosome 22 and the FLI1 gene on chromosome 11 . (medlineplus.gov)
  • They discovered that her tumor had a rare mutation called NTRK gene fusion - and told her about a clinical trial opening in Denver for a drug targeting that abnormality. (curetoday.com)
  • Germline mutation of one TP53 allele is found in patients with Li-Fraumeni syndrome who generally inherit a mutated TP53 gene from an affected parent. (medscape.com)
  • Rous sarcoma virus Fusion protein Fusion gene Fusion transcript Chimeric gene Bcr-abl fusion protein Oncovirus Retrovirus Retrotransposon Retroposon Integrase gag-onc+Fusion+Proteins at the U.S. National Library of Medicine Medical Subject Headings (MeSH) http://www.ijbs.com/v06p0730.htm#headingA7 Lewin, Benjamin (1999). (wikipedia.org)
  • We have developed a novel method for co-expressing multiple chimeric fluorescent fusion proteins in plants to overcome the difficulties of conventional methods. (jove.com)
  • Malignant transformation is usually the result of chromosomal translocations that activate proto-oncogenes or create a chimeric fusion protein. (oncolink.org)
  • If the mouse gene for the whole variable region is spliced next to the human constant region, the product is termed "chimeric. (msdmanuals.com)
  • production of perdueterated proteins for neutron-scattering experiments. (lu.se)
  • The loss of iron led to a approximately 2.5-fold decrease in DNA-binding affinity, indicating that iron was directly involved in SRE1 regulation of iron-uptake genes. (nih.gov)
  • As the SEC can regulate the transcriptional activity of RNA polymerase II, it was hypothesized that these MLL-fusions induce aberrant regulation of transcriptional elongation on MLL-target genes 14 . (nature.com)
  • The EWS/FLI protein has the DNA-binding function of the FLI protein as well as the transcription regulation function of the EWS protein. (medlineplus.gov)
  • This basic two-step process has been confirmed in most mammalian cells, although its regulation and the repertoire of specific accessory proteins are likely to be highly context dependent. (centrodinoferrari.com)
  • Molecular cloning and viral gene delivery of fusion proteins are powerful tools to elucidate the role and regulation of proteins within the central nervous system. (gla.ac.uk)
  • TP53 activates the expression of genes involved in apoptosis, cell cycle regulation (p21), and MDM2. (medscape.com)
  • The protein may be useful as a tumor marker. (cancerindex.org)
  • The quantification of protein expression for tests like PD-L1 is performed on circulating tumor cells (CTCs) and cannot be determined from circulating tumor DNA (ctDNA). (prnewswire.com)
  • Nowell, a tumor biologist in the pathology department at the University of Pennsylvania School of Medicine, was interested in the relationship between cancer and alterations in genes (although he had no proof there was one). (laskerfoundation.org)
  • We hope to contribute to the advance of translational cancer research and the implementation of precision medicine in the field of prostate cancer by providing a unique insight into the protein level alterations associated with tumor tissue in clinical samples," adds Flores-Morales. (sciencedaily.com)
  • In addition, these alterations affect 3 principal categories of genes, as follows: proto-oncogenes, tumor suppressor genes, and DNA repair genes. (medscape.com)
  • This article briefly discusses tumor suppressor genes and then focuses on the role of proto-oncogenes in childhood cancer. (medscape.com)
  • Inactivation of tumor suppressor genes, whose products normally provide negative control of cell proliferation, contributes to malignant transformation in various cell types. (medscape.com)
  • [ 1 ] His prediction was subsequently supported by the cloning of the retinoblastoma tumor suppressor gene ( RB1 ) and by functional studies of the retinoblastoma protein, Rb. (medscape.com)
  • Like Rb protein, many of the proteins encoded by tumor suppressor genes act at specific points in the cell cycle. (medscape.com)
  • Another important class of tumor suppressor genes involved in cell cycle control and in the generation of human cancers is the cyclin-dependent kinase (CDK) inhibitors. (medscape.com)
  • Contrary to Horton's representation of our motives for doing this work, we, in fact, accidentally stumbled onto this rather startling find while carrying out experiments designed to understand the role certain genes play in Drosophila brain development. (nybooks.com)
  • The FLI protein controls the growth and development of some cell types by regulating the transcription of certain genes. (medlineplus.gov)
  • A new drug can break the circuit of cancer-causing effects that develop when certain genes fuse. (curetoday.com)
  • Due to evidence of conserved homology between the v-Src gene and its host (animal) genomes, and its non-essential status for viral reproduction, the v-Src gene is likely to have been acquired from a host genome and altered by subsequent mutations. (wikipedia.org)
  • These subsequent mutations are responsible for the oncogenic capabilities of the virus, as the normal (host) version of the Src gene, c-Src promotes survival, angiogenesis, proliferation and invasion pathways. (wikipedia.org)
  • Scope includes mutations and abnormal protein expression. (cancerindex.org)
  • Non-FA (or underlying FA) patients harboring heterozygous germline FA gene mutations may also face an increased risk of developing bone marrow failure, primary immunodeficiency disease, and hereditary cancer predisposition syndromes. (frontiersin.org)
  • Targeted next-generation sequencing (NGS) of a panel of 80 genes was performed on her initial bone marrow aspirate sample and identified PTPN11, NRAS , and DNMT3A somatic mutations. (frontiersin.org)
  • This case highlights the importance of genetic counseling in patients with hematopoietic neoplasms with high clinical suspicion for carrying cancer susceptibility gene mutations, which require timely diagnosis and personalized management. (frontiersin.org)
  • To date, researchers have already identified germline mutations in 22 specific genes associated with the FA pathway, each accounting for an individual FA complementation group ( 2 ). (frontiersin.org)
  • Here, we present the case of a 54-year-old female patient with multiple FA gene mutations. (frontiersin.org)
  • Comprehensive genetic testing showed that many molecular variations (including FA gene germline mutations, RAS and epigenetic pathway somatic mutations, and NUP98-HOXC11 fusion) were highly linked to her serious and complex medical history ( Figures 1A, B ). (frontiersin.org)
  • (B) The patient was born with four Fanconi anemia (FA) gene mutations and germline predisposition to cancers. (frontiersin.org)
  • She developed ovarian cancer, and then the altered FA pathway plus exposure to cytotoxic drugs promoted the emergence of acquired somatic mutations and the NUP98-HOXC11 fusion, all of which contributed to the development of secondary t-CMML. (frontiersin.org)
  • PDGFRA -associated chronic eosinophilic leukemia is caused by mutations in the PDGFRA gene. (medlineplus.gov)
  • Rarely, changes in single DNA building blocks (point mutations) in the PDGFRA gene are found in people with this condition. (medlineplus.gov)
  • Genetic rearrangements and point mutations affecting the PDGFRA gene are somatic mutations, which are mutations acquired during a person's lifetime that are present only in certain cells. (medlineplus.gov)
  • Similarly, point mutations in the PDGFRA gene can result in a PDGFRA protein that is activated without ligand binding. (medlineplus.gov)
  • Translocations and other types of mutations involving the RUNX1 gene have been associated with different types of leukemia and related blood disorders, including acute lymphoblastic leukemia (ALL), chronic myelomonocytic leukemia (CMML), familial platelet disorder with predisposition to acute myeloid leukemia, and myelodysplastic syndromes (MDS). (medlineplus.gov)
  • The RUNX1 gene mutations associated with these diseases are somatic mutations and are not inherited. (medlineplus.gov)
  • There are currently 20 retinal genes whose mutations cause the phenotype of LCA, accounting for about 70% of the cases, while the genes underlying the remaining 30% of patients await discovery. (aao.org)
  • Visual acuity (VA) in children with LCA varies significantly among patients with differing gene mutations and can be as low as no light perception (NLP). (aao.org)
  • Alterations in mitochondrial dynamics due to mutations in proteins involved in the fusion-fission machinery represent an important pathogenic mechanism of human diseases. (centrodinoferrari.com)
  • An expanding number of degenerative disorders are associated with mutations in the genes encoding MFN2 and OPA1, including Charcot-Marie-Tooth disease type 2A and autosomal dominant optic atrophy. (centrodinoferrari.com)
  • This protein usually engages in cellular mitochondria fusion. (harcourthealth.com)
  • Mitochondria are highly dynamic, complex organelles that continuously alter their shape, ranging between two opposite processes, fission and fusion, in response to several stimuli and the metabolic demands of the cell. (centrodinoferrari.com)
  • Fusion allows the exchange of contents, DNA, and metabolites between neighboring mitochondria, including damaged or senescent mitochondria, promoting their survival [2, 3]. (centrodinoferrari.com)
  • It is remarkable that white is one of the most studied genes in man's quest to understand genetic control and function in Drosophila (described in 1910 by Thomas Hunt Morgan as the first example of sex-linked inheritance in flies) and yet this phenomenon had not previously been reported. (nybooks.com)
  • This condition usually occurs as a result of genetic rearrangements that fuse part of the PDGFRA gene with part of another gene. (medlineplus.gov)
  • The most common genetic abnormality in PDGFRA -associated chronic eosinophilic leukemia results from a deletion of genetic material from chromosome 4 , which brings together part of the PDGFRA gene and part of the FIP1L1 gene, creating the FIP1L1-PDGFRA fusion gene. (medlineplus.gov)
  • The FIP1L1 gene provides instructions for a protein that plays a role in forming the genetic blueprints for making proteins (messenger RNA or mRNA). (medlineplus.gov)
  • Chengdu Origen is a clinical-stage gene therapy company focused on developing gene therapy for unmet medical needs and providing meaningful clinical benefits for patients suffering from genetic and chronic diseases and has comprehensive viral vector manufacturing capabilities and infrastructure. (wboy.com)
  • A rearrangement (translocation) of genetic material involving the RUNX1 gene is found in approximately 7 percent of individuals with a form of blood cancer known as acute myeloid leukemia (AML). (medlineplus.gov)
  • The translocation, written as t(8;21), combines genetic information from chromosome 21 and chromosome 8, fusing the RUNX1 gene on chromosome 21 with a gene on chromosome 8 called RUNX1T1 (also known as ETO ). (medlineplus.gov)
  • These vectors are designed for protein transient expression and genetic transformation. (jove.com)
  • A rearrangement (translocation) of genetic material between chromosomes 22 and 11, written as t(11;22), fuses part of the EWSR1 gene with part of the FLI1 gene, creating the EWSR1/FLI1 fusion gene. (medlineplus.gov)
  • PURPOSE: BCL11B-related disorder (BCL11B-RD) arises from rare genetic variants within the BCL11B gene, resulting in a distinctive clinical spectrum encompassing syndromic neurodevelopmental disorder, with or without intellectual disability, associated with facial features and impaired immune function. (bvsalud.org)
  • These native pathways are disrupted in the presence of the mutant Src gene (v-Src) such that oncogenesis becomes more likely for the infected host cells, since the v-Src gene is translated into a functionally distinct version of its host counterpart. (wikipedia.org)
  • While studies of selected MLL-fusions have revealed critical molecular pathways, unifying mechanisms across all MLL-fusions remain poorly understood. (nature.com)
  • When the ligand attaches (binds), the PDGFRA receptor protein is turned on (activated), which leads to activation of a series of proteins in multiple signaling pathways. (medlineplus.gov)
  • Therefore, a better understanding of the protein signaling pathways deregulated in prostate cancer could lead to better preventive and therapeutic strategies for the treatment of this disease. (sciencedaily.com)
  • RUNX1 fusion protein and RNA binding protein, IGF2BP1 in activating multiple oncogenic pathways in B-ALL which makes IGF2BP1 and these pathways as attractive therapeutic targets and biomarkers. (bvsalud.org)
  • The largest family of "multi-partner translocations" in acute leukemia comprises fusions involving the product of the KMT2A ( MLL) gene. (nature.com)
  • Translocations are thought to occur during normal gene rearrangements (Ig, T-cell receptor). (oncolink.org)
  • Translocations that fuse the EWSR1 gene with other genes that are related to the FLI1 gene can also cause these types of tumors, although these alternative translocations are relatively uncommon. (medlineplus.gov)
  • The fusion proteins produced from the less common gene translocations have the same function as the EWS/FLI protein. (medlineplus.gov)
  • PML-RARA represses genes responsible for hematopoiesis and activates super-enhancer genes responsible for specific characteristics of APL. (medscape.com)
  • The RUNX1 protein turns on (activates) genes that help control the development of blood cells (hematopoiesis). (medlineplus.gov)
  • KH631 is a recombinant adeno-associated virus vector that encodes a human VEGF receptor fusion protein. (wboy.com)
  • The Gag-v-Onc fusion protein from the Rous sarcoma virus illustrates the dual role that the fusion protein plays in the viral and host cellular life cycle. (wikipedia.org)
  • Gene expression was analyzed by measuring beta-galactosidase activity in tissue homogenates or visualizing enzymatic activity or protein production at a cellular level by in situ histochemistry or immunocytochemistry. (nih.gov)
  • The main advantage of this technique is the high efficiency of co-expressing cellular fusion proteins in one expression vector. (jove.com)
  • Proteins are key effectors of cellular functions. (sciencedaily.com)
  • Mitochondrial fusion and fission are fundamental processes underlying cellular dynamics [1]. (centrodinoferrari.com)
  • NTRK fusions appear in some common cancers, such as non-small cell lung, sarcoma and colon, as well as some rare cancers, including secretary breast carcinoma and cellular or mixed congenital mesoblastic nephroma. (curetoday.com)
  • This gene encodes a protein with protease activity and is expressed in the placenta. (cancerindex.org)
  • This locus, however, also encodes a protein from an alternative reading frame, designated p19ARF. (medscape.com)
  • Multiple alternatively spliced transcript variants have been found for this protein. (cancerindex.org)
  • RUNX1 fusion transcript itself. (bvsalud.org)
  • The VHH (variable domain of heavy chain antibody) gene of Nb28 was subcloned into the expression vector pecan45 containing the AP double-mutant gene. (cdc.gov)
  • The resultant DNA is placed in a mammalian cell culture, which then expresses the resultant gene, producing the desired antibody. (msdmanuals.com)
  • We previously demonstrated that 350 bp of the human rod cGMP phosphodiesterase beta-subunit (beta-PDE) gene promoter are sufficient to direct high levels of gene expression in human Y-79 retinoblastoma cells in vitro. (nih.gov)
  • This study demonstrates the utility of the human beta-PDE promoter for directing the expression of foreign genes to photoreceptors and suggests that the -297 to +53 beta-PDE 5' flanking region fragment may have important implications for therapeutic gene delivery to the visual cells. (nih.gov)
  • We report here that SRE1, a gene encoding a GATA-type protein, bound to promoter sequences of genes involved in siderophore biosynthesis. (nih.gov)
  • The TLR1-GFP fusion gene is cloned in the pUNO plasmid under the control of the strong and ubiquitous mammalian promoter EF1α/HTLV. (invivogen.com)
  • GFP fusion gene is under the control of the strong and ubiquitous hEF1/HTLV promoter. (invivogen.com)
  • Gag genes are part of a general architecture for retroviruses, viruses that replicate through reverse transcription, where the gag region of the genome encodes proteins that constitute the matrix, capsid and nucleocapsid of the mature virus particles. (wikipedia.org)
  • In response to excess iron, H. capsulatum represses transcription of genes involved in iron uptake. (nih.gov)
  • The RUNX1 gene provides instructions for making a protein called runt-related transcription factor 1 (RUNX1). (medlineplus.gov)
  • Like other transcription factors, the RUNX1 protein attaches (binds) to specific regions of DNA and helps control the activity of particular genes. (medlineplus.gov)
  • Floral inducers including FLOWERING LOCUS T (FT), FD, SUPPRESSOR OF CONSTANS 1 (SOC1), and LFEAY (LFY) activate the transcription of the majority of genes floral genes, promoting Arabidopsis bolting and flowering ( Johansson and Staiger, 2015 ). (frontiersin.org)
  • The EWS protein, produced from the EWSR1 gene, also regulates transcription. (medlineplus.gov)
  • It is thought that the EWS/FLI protein turns the transcription of a variety of genes on and off abnormally. (medlineplus.gov)
  • The CDK4-cyclinD complex normally phosphorylates the retinoblastoma protein (Rb protein), leading to release of the E2F transcription factor and cell cycle progression. (medscape.com)
  • Myeloid-lymphoid leukemia protein is a transcription factor that maintains high levels of HOMEOTIC GENE expression during development. (bvsalud.org)
  • Rowley had identified the first "translocation" in cancer, providing clear evidence that the cause of CML could be related to the fact that by moving from one chromosome to another, the aberrant segment of chromosome 22 was no longer sitting next to genes that controlled its behavior. (laskerfoundation.org)
  • This clone was originally isolated in a form of a synthetic nanobody (sybody) via a 'target swap' selection procedure against RBD-vYFP using ribosomal display and against RBD-Fc fusion during phage display rounds. (prosci-inc.com)
  • Fully human monoclonal antibodies are produced using transgenic mice that contain human immunoglobulin genes or using phage display (ie, a bacteriophage-based cloning method) of immunoglobulin genes isolated from human B cells. (msdmanuals.com)
  • The present study focused on two such proteins, the transmembrane receptor PAR2 and the nuclear epigenetic regulator MeCP2. (gla.ac.uk)
  • The mutated GlmS protein does not bind Ni-NTA resin in the presence of 20mM imidazole binding/ wash buffer, whereas wt GlmS protein binds Ni-NTA resin and is not eluted until the imidazole concentration is within 55-80 mM (1). (neb.com)
  • Expression of MLL-fusions enhances proliferation and blocks myeloid differentiation of hematopoietic progenitor cells, leading to their pathological accumulation. (nature.com)
  • The kinetics of CS1 and MDH1 activities of the fusion protein were compared to those of the free enzymes. (lu.se)
  • It was observed that AAT was a less effective competitor for OAA when the CS1/MDH1 fusion protein is used than when the separate enzymes are employed. (lu.se)
  • In addition, the transient time for the coupled reaction sequence was less for the fusion protein than for the free enzymes. (lu.se)
  • However, the gene expression and activity of antioxidative enzymes had no differences between wild type and the zcf29zcf29 mutant. (ncl.edu.tw)
  • protein composed of uncontrolled TRK enzymes, which promote cancer growth. (curetoday.com)
  • 1q23.1 homozygous deletion and downregulation of Fc receptor-like family genes confer poor prognosis in chronic lymphocytic leukemia. (cancerindex.org)
  • ALK , the chromosome 2 gene locus altered by the t(2;5) in non-Hodgkin's lymphoma, encodes a novel neural receptor tyrosine kinase that is highly related to leukocyte tyrosine kinase (LTK). (nature.com)
  • The PDGFRA gene provides instructions for making a receptor protein that is found in the cell membrane of certain cell types. (medlineplus.gov)
  • Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. (medlineplus.gov)
  • The retinoic acid alpha receptor gene ( RARA ) is encoded by the long arm of chromosome 17. (medscape.com)
  • The fusion gene product causes the retinoic acid receptor to bind more tightly to the nuclear co-repressor factor. (medscape.com)
  • TLR1-GFP fusion gene was generated by fusing the green fluorescent protein (GFP) gene to the C terminus of human Toll-like receptor 1 (TLR1) gene. (invivogen.com)
  • The Food and Drug Administration approved Vitrakvi in November 2018 to treat adults and children with solid tumors of any type originating anywhere in the body if the patients have fusions in one of three NTRK (neurotrophic receptor tyrosine kinase) genes. (curetoday.com)
  • SCAR13 is caused by pathogenic variants in the GRM1 gene encoding the metabotropic receptor of glutamate type 1 (mGlur1), which is highly expressed in Purkinje cerebellar cells, where it plays a fundamental role in cerebellar development. (bvsalud.org)
  • Acrosomal proteins can also be biochemically classified as components of the acrosomal matrix, a large, relatively insoluble complex, or as soluble proteins. (nih.gov)
  • Note that since the viral oncogenes originated from a host genome, the transformation event is different from transduction, which describes the process of introducing non-native genes to a host organism via a viral infection. (wikipedia.org)
  • A novel coronavirus isolated from bats in China is unusual because the genome contains a gene from a virus in a completely different family, the Reoviridae (link to paper) . (virology.ws)
  • This sequence, called p10, was also detected in viral mRNAs from infected bats, further demonstrating the presence of the reovirus-like gene in the coronavirus genome. (virology.ws)
  • These results indicate that the p10 protein is produced from the viral genome and that the protein is functional. (virology.ws)
  • In the case of the murine leukemia viruses, a species of viruses capable of causing cancer in murines (mice), the viral life cycle can also be responsible for oncogenesis through a Gag-v-Onc fusion protein called "Mo-MuLV(src)", which is a Gag-v-Src protein capable of inducing oncogenesis in living mice. (wikipedia.org)
  • MLL-fusions represent a large group of leukemia drivers, whose diversity originates from the vast molecular heterogeneity of C-terminal fusion partners of MLL. (nature.com)
  • Functional investigation of 128 conserved MLL-fusion-interactors identifies a specific role for the lysine methyltransferase SETD2 in MLL-leukemia. (nature.com)
  • Families of related leukemia fusion proteins that share genomic and biological properties represent unique opportunities to study how the combination of distinct functional protein modules can drive oncogenic transformation. (nature.com)
  • MLL-fusion proteins are found in acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML) and are often associated with adverse prognosis, particularly in pediatric patients 3 . (nature.com)
  • In line, many MLL-fusions can act as potent oncogenes in cell line models and animal models of leukemia 4 . (nature.com)
  • The BCR-ABL gene leads to the production of an abnormal protein that fuels the growth of leukemia cells. (cancercare.org)
  • The MFN2 gene is represented as the mitofusin 2. (harcourthealth.com)
  • The most relevant proteins involved in the mitochondrial fusion process are three GTPase dynamin-like proteins: mitofusin 1 (MFN1) and 2 (MFN2), located in the outer mitochondrial membrane, and optic atrophy protein 1 (OPA1), in the inner membrane. (centrodinoferrari.com)
  • Fusion of the outer mitochondrial membrane depends on two GTPase family members: mitofusin 1 (MFN1) and mitofusin 2 (MFN2). (centrodinoferrari.com)
  • Fanconi anemia (FA) genes play critical roles in the repair of DNA lesions. (frontiersin.org)
  • That's because three NTRK genes play critical roles in the development and survival of nerve cells, raising the possibility that altering the genes could cause dangerous neurological side effects. (curetoday.com)
  • It has therefore been proposed that the oncogenic activity of MLL-fusion proteins depends on chromatin targeting functions exerted by the MLL N-terminus in combination with other functional properties encoded by the fusion partners 6 . (nature.com)
  • The GlmS(6Ala) protein and the CBD-tagged proteins are functional in vivo according to assays conducted at New England Biolabs. (neb.com)
  • Bailly RA, Bosselut R, Zucman J, Cormier F, Delattre O, Roussel M, Thomas G, Ghysdael J. DNA-binding and transcriptional activation properties of the EWS-FLI-1 fusion protein resulting from the t(11;22) translocation in Ewing sarcoma. (medlineplus.gov)
  • This gene encodes a mitochondrial solute carrier protein family member. (nih.gov)
  • The role of the mitochondrial outer membrane protein SLC25A46 in mitochondrial fission and fusion. (nih.gov)
  • This review provides an overview of the basic molecular mechanisms involved in mitochondrial fusion and focuses on the alteration in mitochondrial DNA amount resulting from impairment of mitochondrial dynamics. (centrodinoferrari.com)
  • We also review the literature describing the main disorders associated with the disruption of mitochondrial fusion. (centrodinoferrari.com)
  • Dynamin-related protein 1 (DRP1), a cytosolic dynamin-related GTPase, plays a central role in fission by promoting mitochondrial division through its oligomerization into multimeric spiral structures [5]. (centrodinoferrari.com)
  • Amplify DNA fragments that are necessary for the construction of the semi-independent protein expression cassettes by standard PCR reactions with their corresponding primers and high-fidelity polymerase. (jove.com)
  • The course will be held in collaboration with the Lund Protein Production Platform, LP3 ( http://www.lu.se/lp3 ). (lu.se)
  • For example, the viral gene Src (as in "sarcoma") is not necessary for viral reproduction, but does affect virulence. (wikipedia.org)
  • NYR , July 13) of the paper which Dr. Shang-Ding Zhang and I published concerning the white gene's effect on fruit fly sexual behavior ("Misexpression of the white ( w ) gene triggers male-male courtship in Drosophila," Proceeding of National Academy of Sciences , USA, Vol. 92 (June 6, 1995), pp. 5525-5529). (nybooks.com)
  • Research shows that CMT2A is the most popular kind of CMT 2 caused by the damages within the MFN2 gene. (harcourthealth.com)
  • Numerous studies have established strong links between the molecular function of the fusion partner and the mechanistic basis of oncogenic transformation in MLL-fusion-induced leukemogenesis 4 . (nature.com)
  • NTRK fusions are rare: A recent sampling of more than 13,000 tumors found the abnormality in just 0.31% of adult cancers and 0.34% of pediatric tumors. (curetoday.com)
  • It was the first drug on the market to target NTRK fusions and the second FDA approval based on the biological characteristics of tumors rather than their location in the body. (curetoday.com)
  • Although carcinogenic roles for the INK4B, INK4C, INK4D, CIP1, KIP1, and KIP2 genes appear to be limited, INK4A is among the most commonly mutated genes in human tumors. (medscape.com)
  • In general, these studies enable the reassessment of paradigms to explain acrosome formation and function and provide novel, objective insights into the roles of acrosomal matrix proteins in fertilization. (nih.gov)
  • Within the retina, the reporter gene was specifically expressed in photoreceptors, consistent with the localization of endogenous beta-PDE. (nih.gov)
  • This fusion protein can be used to study the localization of TLR1. (invivogen.com)
  • Some gene knockouts produce infertile phenotypes with obviously missing, specific activities that affect acrosome biogenesis during spermatogenesis or interfere with acrosome function in mature sperm. (nih.gov)
  • Na(+) influx via Orai1 inhibits intracellular ATP-induced mTORC2 signaling to disrupt CD4 T cell gene expression and differentiation. (nih.gov)
  • A vesicle trafficking protein αSNAP regulates Paneth cell differentiation in vivo. (nih.gov)
  • This change in gene activity blocks the maturation (differentiation) of blood cells and leads to the production of abnormal, immature white blood cells called myeloid blasts. (medlineplus.gov)
  • A construct containing the bacterial LacZ gene driven by a fragment of the beta-PDE 5' flanking region (-297 to +53) was used to generate transgenic mice. (nih.gov)
  • This review focuses on recent findings using genetically modified mice (gene knockouts and transgenic 'green acrosome' mice) to study the effects of eliminating acrosomal matrix-associated proteins on sperm structure and function. (nih.gov)
  • Thus DE3 strains may exhibit uninduced target protein expression. (neb.com)
  • E. coli B strains are "naturally" deficient in the Lon protease which in K-12 strains serves to degrade misfolded proteins and to prevent some cell cycle-specific proteins from accumulating. (neb.com)
  • Orthologous to human NAPA (NSF attachment protein alpha). (nih.gov)
  • We report the in vivo pharmacokinetics of a broad-spectrum vaccinia virus CC chemokine binding protein (35 K) fused to human IgG1 Fc. (ox.ac.uk)
  • The ALK gene is a hotspot for chromosomal translocation events that result in several fusion proteins that cause a variety of human malignancies 3 . (nature.com)
  • GFP fusion gene was generated by fusing at the C terminus of the human TLR1 gene to a GFP variant. (invivogen.com)
  • Adeno-associated viral vector-mediated gene transfer of the human DDC gene injected into the putamen is available. (bvsalud.org)
  • Sequence Analysis of the Fusion Protein Gene of Human Respiratory Syncytial Virus Circulating in China from 2003 to 2014. (cdc.gov)
  • Therefore, Zcf29p regulates stress response probably through its control of other genes not tested in our study. (ncl.edu.tw)
  • Photoreceptor-specific reporter gene expression is driven in vivo by a 350-bp segment of the beta-PDE 5' flanking sequence. (nih.gov)
  • Hydrodynamic Gene Delivery of CC Chemokine Binding Fc Fusion Proteins to Target Acute Vascular Inflammation In Vivo. (ox.ac.uk)
  • We demonstrate that the in vivo efficacy of the protein can be interrogated using hydrodynamic gene delivery of a standard mammalian expression plasmid. (ox.ac.uk)
  • The approach in which the antigen was tagged by equal molecular GFP allows using the bi-function fusion protein to establish a new method for immunogical diagnosis. (virosin.org)
  • Moreover, the identification of a unique DNA methylation episignature offers a valuable diagnosis tool for BCL11B-RD, thereby facilitating routine clinical practice by empowering physicians to reevaluate variants of uncertain significance within the BCL11B gene. (bvsalud.org)
  • The t(14;18) translocation (characteristic for follicular lymphoma but also common in other types) results in activation of the BCL-2 gene and suppression of apoptosis. (oncolink.org)
  • The TP53 gene is also capable of stimulating apoptosis of cells containing damaged DNA. (medscape.com)
  • We confirm that the protein has biological activity in acute inflammation, causing a significant reduction in monocyte recruitment during zymosan induced peritonitis. (ox.ac.uk)
  • Fusion Proteins offer an important biological assay for direct protein-to-protein interactions. (thermofisher.com)