• If the cancer tissue contains a specific ALK gene rearrangement mutation or altered ALK protein, then the affected person is likely to benefit from an ALK kinase inhibitor drug therapy such as crizotinib and is not likely to benefit from anti-EGFR drug therapies. (labcorp.com)
  • Conclusion The RSPO2 gene rearrangement leads to oncogenic activation of the WNT signalling pathway in HCA and HCC, represents an alternative mechanism for the development of b-HCA and may drive malignant transformation without additional TERT promoter mutation. (bmj.com)
  • A total of 160 AC genotype-negative probands for 5 AC desmosomal genes by conventional mutation screening underwent multiplex ligation-dependent probe amplification. (ovid.com)
  • Taub R, Moulding C, Battey J, Murphy W, Vasicek T, Lenoir G, and Leder P (1984) Activation and somatic mutation of the translocated c-myc gene in Burkitt lymphoma cells. (springer.com)
  • In order to assess the possibility that the families, previously tested negative for both BRCA1 and BRCA2 coding region mutations (153 families) and for BRCA -UV (47 families), could carry large DNA rearrangements in the BRCA1 gene, we screened them (total 200) for known founder mutations IVS21-36del510 and ins6kbEx13 by a mutation specific PCR based assay. (bmj.com)
  • Screening for mutations in the cardiac Na+ channel-encoding gene SCN5A uncovers a mutation in approximately 20% of Brugada syndrome cases. (pubfacts.com)
  • Mutation analysis of the candidate genes was performed by direct sequencing of polymerase chain reaction-amplified coding regions. (pubfacts.com)
  • Treatment that targets a specific gene mutation can alleviate symptoms of psychosis in patients with psychotic disorders, results from a new proof-of-concept study show. (medscape.com)
  • In two double-blind, placebo-controlled trials, investigators studied a mother and a son, each of whom had a different psychotic disorder but carried the same rare genetic mutation - a copy number variant (CNV) involving four, instead of the usual two, copies of the gene that encodes glycine decarboxylase ( GLDC ). (medscape.com)
  • One particular mutation involved a structural rearrangement that included a triplication of the glycine decarboxylase gene. (medscape.com)
  • A mutation of either the RAD1 or the RAD10 gene reduced GCR rates in many GCR mutator strains. (genetics.org)
  • We validated the array on patients with previously known mutations as well as unaffected controls, we identified three novel pure intronic rearrangements and we defined all the mutation breakpoints both in the introns and in the 3' UTR region. (biomedcentral.com)
  • The combination of these tools will fully cover the identification of causative DMD rearrangements in both coding and non-coding regions, particularly in patients in whom standard although extensive techniques are unable to detect a mutation. (biomedcentral.com)
  • Indeed the increased availability of experimental but highly mutation specific therapies, summarised in the concept of "personalised medicine" [ 6 , 7 ], makes the identification of private mutations in the DMD gene necessary to be eligible for these trials. (biomedcentral.com)
  • Mutation in the TENM3/ODZ3 gene in humans has been associated with the eye condition, microphthalmia. (wikipedia.org)
  • Programmed gene rearrangements are used in nature to to alter gene copy number (gene amplification and deletion), to create diversity by reassorting gene segments (as in the formation of mammalian immunoglobulin genes), or to control the expression of a set of genes that code for the same function (such as surface antigens). (sciencemag.org)
  • Immunoglobulin gene rearrangement in B cell deficient mice generated by targeted deletion of the JH locus. (nih.gov)
  • To determine the role of the Ig heavy chain protein in B cell development and L chain gene rearrangement, we have generated mice that cannot assemble Ig H chain genes as a result of targeted deletion of the JH gene segments in embryonic stem cells. (nih.gov)
  • Remarkably, gene deletion studies show that the downstream Vγ genes competitively inhibit upstream Vγ rearrangements at the fetal stage. (rupress.org)
  • Site-specific deletion and rearrangement of integron insert genes catalyzed by the integron DNA integrase. (asm.org)
  • Deletion of individual antibiotic resistance genes found within the variable region of integrons is demonstrated. (asm.org)
  • Deletion, duplication, and rearrangement occur only in the presence of the integron-encoded DNA integrase. (asm.org)
  • However, deletion occurs 10 times more frequently than duplication, and we propose that the majority of deletion events are likely to involve integrase-dependent excision of the gene unit to generate a circular gene cassette. (asm.org)
  • Usually, patients with deletion of chromosome 13q14 as a single alteration have a better outcome, although a high number of losses in 13q14 or large deletions including RB1 gene could be associated with a worse outcome [ 10 ]. (hindawi.com)
  • Five carried a deletion of the entire plakophilin-2 (PKP2) gene, 2 a deletion of only PKP2 exon 4, 1 a deletion of the PKP2 exons 6 to 11, 1 a PKP2 duplication of 5′ untranslated region till exon 1, 1 the desmocollin-2 (DSC2) duplication of exons 7 to 9, and 1 a large deletion of chromosome 18 comprising both DSC2 and desmoglein-2 genes. (ovid.com)
  • In fact, the families described here with a rearrangement in the BRCA1 gene are in the most severe categories with respect to their family history (B19, group A1 and BN8, group B). Up to now the deletion IVS21-36del510 comprising exon 22 has exclusively been detected in Dutch breast cancer patients. (bmj.com)
  • This study targeted the AF9 gene located at 9p22 because 9p22 is one of the most common deletion sites in NPC. (biomedcentral.com)
  • Thanks to a fast evolution rate (due essentially to amplification/deletion of tandemly repeated genes), molecular karyotyping seems particularly appropriate for studying recent evolutionary divergence, including eco-geographical diversification. (pasteur.fr)
  • In the present study we have used T cell receptor beta- and gamma-chain gene probes to screen for abnormal rearrangements of these genes in B lymphoblastoid cells from patients with ataxia-telangiectasia (A-T). No rearrangement of either gene was observed but deletion of a beta-chain gene allele is described for one A-T cell line. (mysciencework.com)
  • This may reflect the presence of a recombinant visual pigment protein or altered regulation of residual pigment genes, due to DNA changes--deletion of the long-wave pigment gene and reorganized sequences 5' to the pigment gene cluster--that segregate with the metabolic defect in this kindred. (biomedsearch.com)
  • Our gene targeting studies show that the downstream Vγ genes rearrange preferentially in the early fetal thymus because of their downstream location, independent of promoter or recombination signal sequences and unrelated to the extent of germline transcription. (rupress.org)
  • Early in development, precursor thymocytes rearrange and express the genes encoding TCRs and mature as either αβ or γδ lineage T cells (for reviews, see references ( 1 ), 2). (rupress.org)
  • At this stage of ontogeny the cells have not started to rearrange their TCR genes, do not express the mature T-cell markers CD3, CD4 or CD8, and may not be irreversibly committed to the T-cell lineage. (europeanmedical.info)
  • if it has been unsuccessful (e.g. the rearrangement is out of frame) the cell goes on to attempt to rearrange a V segment to the DJ on the other chromosome. (europeanmedical.info)
  • Chromoanasynthesis is a recently discovered phenomenon in humans with congenital diseases that is characterized by complex genomic rearrangements (CGRs) resulting from aberrant repair of catastrophic chromosomal damage. (g3journal.org)
  • U.S. researchers have used a new gene editing technique to trim away potentially harmful virus genes that have impeded the use of pig organs for transplants in humans. (economywatch.info)
  • A B-cell immunoglobulin gene rearrangement test evaluates the cells in a person's sample to determine whether the majority of B-cell rearrangement profiles are diverse or identical. (labtestsonline.org)
  • ALK gene rearrangements are most often seen in light smokers or non-smokers with adenocarcinoma non-small cell lung cancers, especially women of Asian descent. (labcorp.com)
  • IGH rearrangements can be seen in T-cell acute lymphoblastic leukemias and are thus not definitive for lineage in immature lymphoid neoplasms. (mdanderson.org)
  • About 4-5% of people who have non-small cell lung cancer, the most common type of lung cancer, have an alteration on chromosome 2 that leads to the fusion of the ALK gene with another gene (fusion partner). (labtestsonline.org.uk)
  • Here we used paired-end transcriptome sequencing to explore the landscape of gene fusions in a panel of breast cancer cell lines and tissues. (nature.com)
  • In the current study, we show that VP-16 induced cleavage of the AF 9 gene in both leukaemic cells and cultured normal blood cell. (scirp.org)
  • During replication of the MAC about half the fragments bearing 5S gene clusters disappear in different cell lines, and new fragments containing 5S genes appear. (umich.edu)
  • We show here that TCRγδ gene rearrangements are suppressed in TCRαβ transgenic mice when the TCRαβ is expressed early in T cell development. (rupress.org)
  • Recently, we identified LMO2 rearrangements in 5 of 26 (19.2%) T-ALL cell lines including two novel cryptic non- TCR chromosome translocations t(3;11)(q25;p13) and t(X;11)(q25;p13), respectively activating LMO2 by juxtaposition with MBNL1 and STAG2 . (haematologica.org)
  • Effects of rearrangement and allelic exclusion of JJAZ1/SUZ12 on cell proliferation and survival. (semanticscholar.org)
  • T cell receptors, Igs, and MHC genes are present in jawed cartilaginous fish (Chondrichthyes: sharks, skates, rays, and chimaeras), but not in more ancestral vertebrates (e.g., lamprey and hagfish) ( 1 ). (jimmunol.org)
  • Rearrangement of exogenous immunoglobulin VH and DJH gene segments after retroviral transduction into immature lymphoid cell lines. (rupress.org)
  • Joining of the exogenous gene segments was observed in cell lines representative of three distinct stages in early B cell differentiation. (rupress.org)
  • Rearrangement was not observed in three cell lines derived from mature B cells, or in a fibroblastoid cell line. (rupress.org)
  • Our results suggest that Ig H and L chain gene segments are joined by a common mechanism that is more active in B cell precursors than in mature B cells. (rupress.org)
  • Therefore, T-cell gene-rearrangement studies would be diagnostically useful only in cases of early-stage disease. (economywatch.info)
  • Dr. Broach is using Bionano mapping to identify structural rearrangements in cancer cell. (economywatch.info)
  • By this stage, the cell is committed to the T-cell lineage and TCR gene rearrangement is under way. (europeanmedical.info)
  • TCR a-chain gene rearrangement may involve sequential rearrangements of V-J pairs, which enables the cell to express different TCR a-chains until a successful TCR aP heterodimer is generated. (europeanmedical.info)
  • As with B cells, exhaustion of this process without successful rearrangement results in cell death by apoptosis. (europeanmedical.info)
  • ALK rearrangements were detected in 1.7 % in the complete cohort and 2.0 % in the non-squamous cell carcinoma subgroup. (biomedcentral.com)
  • In order to determine whether certain features of the patient-specific rearrangements could hold further prognostic clues or provide information on the cell of origin of ALL, a comprehensive analysis of structural and biological features (V gene usage, coding frame and mutational status and complementarity-determining region -III length) of 473 IG/TR rearrangements identified in 229 adults with ALL was carried out. (ox.ac.uk)
  • The central process in B-cell formation is the rearrangement of Ig variable-region genes. (europeanmedical.info)
  • This testing detects the presence of the most common ALK gene rearrangements in the DNA of cells in tumor tissue or the abnormal protein produced by the mutated gene in order to help guide cancer treatment. (labcorp.com)
  • In some cases, testing for the altered ALK protein may be preferred over ALK gene rearrangement testing. (labcorp.com)
  • The most common ALK fusion partner is a gene called EML4 and results in the production of an EML4-ALK fusion protein. (labtestsonline.org.uk)
  • Reporter Gene System: Green Fluorescent Protein ( Boon Chuan Low, Zhiyuan Gong ). (wiley.com)
  • Genomic analysis of these heterozygous diploids led in particular to the identification of an essential A. fumigatus gene encoding an SMC-like protein resembling one in Schizosacccharomyces pombe involved in chromosome condensation and cohesion. (genetics.org)
  • RSPO2 fusion positive HCA displayed upregulation of RSPO2 protein, nuclear accumulation of β-catenin and transcriptional activation of β-catenin-target genes indicating activation of Wingless-Type MMTV Integration Site Family (WNT) signalling. (bmj.com)
  • If this first attempt fails to generate a productive (inframe) heavy chain protein coding sequence, a second V to DJ rearrangement can occur on the other chromosome. (springer.com)
  • 1 The LIM-only gene LMO2 encodes a protein that participates in a transcription factor complex, which includes E2A, GATA1 , and LDB1 , TAL1. (haematologica.org)
  • Comparisons between the membrane-bound form of the coat protein and the previously determined structural form found in filamentous bacteriophage particles demonstrate that it undergoes a significant structural rearrangement during the membrane-mediated virus assembly process. (rcsb.org)
  • The N-terminal helix and the hinge that connects it to the transmembrane helix are significantly more dynamic than the rest of the protein, thus facilitating structural rearrangement during bacteriophage assembly. (rcsb.org)
  • The resulting chimeric BCR/ABL fusion gene encodes for constitutively active tyrosine kinase protein [ 3 ]. (oncotarget.com)
  • The HUG gene is a chimeric gene leading to the synthesis of a protein antibody of the gamma (g) isotype consisting of a mouse variable region and a human g1 constant region. (oxy.edu)
  • The immunoglobulin lambda light chain locus contains protein-coding genes that can be lost with its rearrangement. (wikipedia.org)
  • Treatment with etoposide (VP-16) has been associated with translocation of the mixed lineage leukaemia ( MLL ) gene seen in treatment-related acute myeloid leukaemia (t-AML). (scirp.org)
  • Rearrangement of the c-myc oncogene was found in the bone marrow cells only in 5T2 MM transplantation line in a mouse of the 24th generation and in none of the seven other MM of the 5T series which were of earlier generations. (tudelft.nl)
  • The incorporation of whole genome sequencing (WGS) into human disease bioanalytic pipelines has led to unexpected insights into the roles of complex genomic rearrangements (CGRs) in the pathogenesis of cancer and congenital disease. (g3journal.org)
  • The results were interpreted to mean that the Vk and Ck genes, which are some distance away from each other in the embryo cells, are joined to form a contiguous polynucleotide stretch during differentiation of lymphocytes. (pnas.org)
  • The two-stage character to MAC alterations for the 5S genes is interpreted in terms of the two steps previously described for MAC differentiation: determination and phenotypic assortment. (umich.edu)
  • Absence of these genes totally blocks further differentiation towards B or T cells. (europeanmedical.info)
  • The organization of the 5S rRNA genes in the MACronuclear genome of Tetrahymena thermophila was examined during MAC development and replication. (umich.edu)
  • These alterations occur in the MACs of all strains except strain B, which is more resistant to vegetative rearrangement. (umich.edu)
  • They may occur in a non-coding region (outside of a gene or within an intron), or they may occur within an exon in a manner that does not alter the final amino acid chain. (wikibooks.org)
  • The association of segments appears to occur at random and the theoretical number of different variable region genes that might be generated in this way is the product of the number of functional V, D and J segments, i.e. ~8262. (europeanmedical.info)
  • For rearrangement of V-region genes to occur in either T or B cells, recombinase-activating genes (RAG) 1 and 2 have to be expressed. (europeanmedical.info)
  • In contrast, precursor CD4 − CD8 − thymocytes expressing the pre-TCR proliferate, upregulate TCRα rearrangement, and progress to a CD4 + CD8 + intermediate stage ( 3 ). (rupress.org)