• Therapies for these disorders (eg, intravenous immunoglobulin [IVIG], bone marrow transplantation, gene therapy) are very costly and require highly advanced facilities. (medscape.com)
  • Immunoglobulin gene rearrangement begins with heavy-chain gene rearrangement followed by light-chain gene rearrangement. (medscape.com)
  • As leukemic Slp65-deficient pre-B cells express the recombination activating genes (Rag)1 and Rag2, and manifest ongoing immunoglobulin (Ig) light-chain rearrangement, it has been hypothesized that deregulated recombinase activity contributes to malignant transformation. (eur.nl)
  • The protein encoded by this gene belongs to the immunoglobulin superfamily and is expressed selectively at the early stages of B cell development, namely, in proB and early preB cells. (nih.gov)
  • PARR improves diagnosis by amplifying genes for T-cell receptor gamma (TCRG) in the case of T cell phenotype or genes for immunoglobulin heavy change (IGH) in case of B cell phenotype. (vin.com)
  • Jawed vertebrates (gnathostomes) generate a diverse repertoire of B and T cell antigen receptors through the rearrangement of immunoglobulin V, D, and J gene fragments, whereas jawless fish (agnathans) assemble diverse lymphocyte antigen receptor genes through the genomic rearrangement of leucine-rich repeat (LRR) - encoding molecules. (scielo.br)
  • they have receptors for the crystallizable fragment (Fc) region of immunoglobulin (Ig) G and for complement, which enable them to bind with immune complexes and present the complex to B cells in germinal centers of secondary lymphoid organs. (msdmanuals.com)
  • SCID results from mutations in any of more than 15 known genes. (medscape.com)
  • At least 16 mutations in the ALK gene have been identified in some people with neuroblastoma, a type of cancerous tumor composed of immature nerve cells (neuroblasts). (medlineplus.gov)
  • Neuroblastoma and other cancers occur when a buildup of genetic mutations in critical genes-those that control cell proliferation or differentiation-allows cells to grow and divide uncontrollably to form a tumor. (medlineplus.gov)
  • Less commonly, gene mutations that increase the risk of developing cancer can be inherited from a parent. (medlineplus.gov)
  • Somatic mutations in the ALK gene occur during the development of some cases of sporadic neuroblastoma, and inherited mutations in the ALK gene increase the risk of developing familial neuroblastoma. (medlineplus.gov)
  • Mutations in the ALK gene change single protein building blocks (amino acids) in ALK receptor tyrosine kinase. (medlineplus.gov)
  • These rearrangements are somatic mutations, which means they occur during a person's lifetime and are present only in the cells that become cancerous. (medlineplus.gov)
  • Familial Hypercholesterolemia results from mutations in the LDL receptor, ApoB, PCSK9, and ApoE genes. (hindawi.com)
  • Those harbouring mutations in the above genes can be treated to lower the cholesterol levels, prevent early CVD, and avoid death. (hindawi.com)
  • The FDA also approved the FoundationOne CDx companion diagnostic test to screen for such mutations, which occur in around 12% of patients with cholangiocarcinoma. (cancerhealth.com)
  • We give examples of mutations in genes that are predicted to be deleterious and may have a role in disease. (biomedcentral.com)
  • Contrary to previous reports, we also show that rare mutations are consistently predicted to be deleterious as often as commonly occurring nsSNPs. (biomedcentral.com)
  • We do believe that this research project can also identify new genes modulated by these mutations involved on this disease progression, as well as other possible therapeutic targets for the MTC treatment. (fapesp.br)
  • Some mutations in the S gene may lead to changes in the spike protein which result in inhibition of contact and entry of the virus into human cells, however in the case of the VOC, they contain mutations in the S gene that enhance the process of contact and entry into human cells, increasing transmissibility of the virus. (who.int)
  • Currently, manufacturers are focusing on and targeting assays to mutations in the S gene. (who.int)
  • X-linked agammaglobulinemia (XLA), also known as Bruton agammaglobulinemia, results from a mutation of the BTK gene, which encodes the pre-B-cell receptor (Pre-BCR) and BCR. (medscape.com)
  • This gene encodes the iota polypeptide chain that is associated with the Ig-mu chain to form a molecular complex which is expressed on the surface of pre-B cells. (nih.gov)
  • Rearrangement of the neurotrophic tropomyosin receptor kinase 1 (NTRK1) gene, which encodes tyrosine receptor kinase A (TRK-A), occurs in various cancers, including colon cancer. (esmo.org)
  • RET gene is an oncogene located on chromossome 10q11.2 that encodes a tyrosine kinase transmembrane receptor associated to cell growth, migration, and differentiation signaling pathways. (fapesp.br)
  • The S gene is one of the structural genes of the virus which encodes for a protein that sits on the surface of the SARS CoV-2 virus. (who.int)
  • 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)
  • Thus, genomic rearrangements may arise from transcriptional or chromatin aberrancies and engage prostate tumorigenic mechanisms. (unitn.it)
  • Supervised analysis of kinase genes revealed a high-level FLT3 expression in a subset of cases without molecular rearrangements. (aacrjournals.org)
  • Castration-resistant prostate cancer (CRPC) is a lethal stage of the disease that emerges when endocrine therapies are no longer effective at suppressing activity of the androgen receptor (AR) transcription factor. (wustl.edu)
  • Rearrangement breakpoints were enriched near open chromatin, androgen receptor and ERG DNA binding sites in the setting of the ETS gene fusion TMPRSS2-ERG, but inversely correlated with these regions in tumours lacking ETS fusions. (unitn.it)
  • In the presence of retinoic acid, RARA is activated and terminal differentiation of promyelocytes occurs. (medscape.com)
  • The complex is thought to regulate Ig gene rearrangements in the early steps of B-cell differentiation. (nih.gov)
  • However, when this recognition does not occur with the proper avidity, thymocytes undergo apoptosis, which occurs in ~95% of T cells during differentiation. (blackmbauk.org)
  • Signal transduction down the Ras/MAPK pathway, including that critical to T cell activation, proliferation, and differentiation, has been generally considered to occur at the plasma membrane. (scielo.br)
  • The results indicate an absolute requirement for the rearrangement of the RARA gene in the pathogenesis of APL and underline the importance of RARA during normal myeloid differentiation. (lu.se)
  • They can be distinguished by antigen-specific surface receptors and other cell surface molecules called clusters of differentiation (CDs), whose presence or absence define some subsets. (msdmanuals.com)
  • Subsequent differentiation allows for rear- analysis of a set of mouse B lineage cell lines rep- rangements of the Ig light-chain (IgL) genes that replace the resenting defined stages of B cell development us- surrogate light-chain genes on the surface of the B cell [8]. (lu.se)
  • the gene expression profile during B lymphoid differentiation. (lu.se)
  • A novel pathogenic mutation on the interleukin-7 receptor has been described in a newborn. (medscape.com)
  • Both types of mutation occur in neuroblastoma. (medlineplus.gov)
  • Arg1275Gln has been found in both familial and sporadic neuroblastoma and is the only common ALK gene mutation that has been found in both types of the condition. (medlineplus.gov)
  • Therefore, we propose to investigate p.G533C mutation on gene RET associated to inherited MTC genesis modulating different VEGF isoforms, VEGFR, and other mediators involved on the process of angiogenesis and lymphangiogenesis on tumor progression. (fapesp.br)
  • Integration of a plectrovirus genome can occur upon viral infection. (wikipedia.org)
  • Insertion sequence elements may have resulted in gene disruptions, genome rearrangements, and genome expansions. (wikipedia.org)
  • Genome replication occurs within the cellular membrane in the cytoplasm. (wikipedia.org)
  • The human genome does not contain enough unique DNA sequences to code for the vast repertoire of receptors needed to recognize all of the foreign antigens a person is exposed to during their lifetime. (clinlabnavigator.com)
  • We analyzed structural rearrangements at the genome-wide level and carried out a detailed structural rearrangement analysis of the AR locus. (wustl.edu)
  • We used genome engineering to perform experimental modeling of AR gene rearrangements and long-read RNA sequencing to analyze effects on expression ofARandtruncatedARvariants (AR-V). Results: AR was among the most frequently rearranged genes in CRPC tumors. (wustl.edu)
  • Staphylococcus aureus gamma-hemolysin CB (HlgCB) is a core-genome-encoded pore-forming toxin that targets the C5a receptor, similar to the phage-encoded Panton-Valentine leucocidin (PVL). (cnrs.fr)
  • Clonal expansion of macrolide resistance occurred mostly within subtype 1 strains, of which clade T1-2 showed the highest recombination rate and genome diversity. (cdc.gov)
  • Current diagnostic PCR assays target a variety of SARS CoV-2 genes and the vast majority target sequences in regions of the SARS CoV-2 genome that are highly conserved. (who.int)
  • How did the paradigm shift occur tations involving the whole genome gen s (Burdette, 1955 ). (who.int)
  • The entrectinib-resistant cell line KM12SM-ER was developed by continuous treatment with entrectinib in the brain metastasis-mimicking model inoculated with the entrectinib-sensitive human colon cancer cell line KM12SM, which harbors the TPM3-NTRK1 gene fusion. (esmo.org)
  • With Pemazyre, we considered the observed efficacy results to be clinically meaningful and the overall risk-to-benefit assessment for patients with tumors harboring FGFR2 gene fusions and other rearrangements to be favorable, particularly when we considered that these patients have no other good options following first line treatment with chemotherapy," Richard Pazdur, MD, director of the FDA's Oncology Center of Excellence, said in a press release . (cancerhealth.com)
  • The approval of LYTGOBI is based on the results of the primary analysis of the FOENIX*-CCA2 trial, a global Phase 2 open-label trial evaluating 103 patients with unresectable, locally advanced or metastatic iCCA harboring FGFR2 gene rearrangements including fusions. (biospace.com)
  • Yin et al identified a novel fusion between RARA and the interferon regulatory factor 2 binding protein 2 ( IRF2BP2 ) genes. (medscape.com)
  • The adapter protein Slp65 and Bruton's tyrosine kinase (Btk) are key components of the precursor-B (pre-B) cell receptor (pre-BCR) signaling pathway. (eur.nl)
  • The ALK gene provides instructions for making a protein called ALK receptor tyrosine kinase, which is part of a family of proteins called receptor tyrosine kinases (RTKs). (medlineplus.gov)
  • This translocation fuses the ALK gene to the NPM gene and results in a fusion protein called NPM-ALK. (medlineplus.gov)
  • Three tumours contained rearrangements that disrupted CADM2, and four harboured events disrupting either PTEN (unbalanced events), a prostate tumour suppressor, or MAGI2 (balanced events), a PTEN interacting protein not previously implicated in prostate tumorigenesis. (unitn.it)
  • Ivosidenib is a first-in-class, oral, small-molecule inhibitor of the mutant IDH1 protein, which occurs in up to 20% of patients with cholangiocarcinoma. (ascopost.com)
  • Tisagenlecleucel is a chimeric antigen receptor T-cell (CAR-T) treatment-a type of therapy in which patients' own T cells are harvested, reprogrammed to target a protein called CD19 that is expressed on the surface of cancer cells, and returned to the patient to fight ALL and lymphoma. (aacr.org)
  • The viral S gene is important as it codes for the Spike protein which is the molecule that makes contact with, and allows entry of the virus into susceptible host cells, causing infection. (who.int)
  • Here we report on a combined analysis by molecular genetics and in situ hybridization of these two patients, in which we wanted to determine whether the PML gene has alternative fusion partners or whether cryptic rearrangement of the RARA locus has occurred instead. (lu.se)
  • During the maturation of B cells, the cells first express a rearranged μ heavy chain gene, which associates with the surrogate light chain to produce the pre-B cell receptor (see Chapter 4 ). (basicmedicalkey.com)
  • The process of maturation involves recombination and rearrangements of the gene segments that code for the T-cell receptor. (world-of-peptides.com)
  • The T cell receptor undergoes genetic rearrangement during thymocyte maturation, resulting in each T cell bearing a unique T cell receptor, specific to a limited set of peptide:MHC combinations. (findmeacure.com)
  • The three breakpoints on the PML gene can occur at intron 3 (L form), intron 6 (S form), and exon 6 (V form). (medscape.com)
  • Host cell DNA-dependent DNA polymerase serves as the replicase, and replication occurs by rolling circle. (wikipedia.org)
  • Translocations are thought to occur during normal gene rearrangements (Ig, T-cell receptor). (oncolink.org)
  • Patients typically have recurrent infections and presentation and complications can vary depending upon where the defect has occurred in B-cell development or the degree of functional impairment. (medscape.com)
  • Defects occurring at the CLP stage or those affecting processes common to B- and T-cell development result in combined immunodeficiency involving B, T, and NK cells (see Combined B-Cell and T-Cell Disorders ). (medscape.com)
  • Following B-cell receptor activation, 2 waves of tyrosine kinase phosphorylation occur. (medscape.com)
  • [ 5 ] Ideally, SCID can be detected in a newborn before the onset of infections, with one well-documented example by screening of T-cell-receptor excision circles. (medscape.com)
  • T-cell receptor-driven lymphomagenesis in mice derived from a reprogrammed T cell. (ca.gov)
  • These mice have a unique T-cell receptor (TCR) gene in all cells, as opposed to the mixture present from normal TCR gene rearrangement occurring during immune system development. (ca.gov)
  • The lymphomagenesis in these mice derived from a reprogrammed T cell demonstrates the deleterious consequences of misregulation of the TCR rearrangement and signaling pathways and illustrates one case of cellular reprogramming where the identity of the cell of origin has profound consequences. (ca.gov)
  • These mice have prerearranged T-cell receptor (TCR) genes in all cells. (ca.gov)
  • Surprisingly, approximately 50% of mice with prerearranged TCR genes develop spontaneous T cell lymphomas, which originate in the thymus. (ca.gov)
  • Mutational Analysis of the VPREB1 Gene of Pre-BCR Complex in a Cohort of Sporadic Pediatric Patients With B-Cell Acute Lymphoblastic Leukemia. (nih.gov)
  • A particle according to claim 1 or 2, wherein the heterologous polypeptide has specific binding affinity for a cognate receptor on die surface of an eukaryotic cell, binding to which does not allow infection of the cell by the viral particle. (sumobrain.com)
  • A particle according to any one of the preceding claims, wherein the heterologous polypeptide sterically hinders binding of d e viral glycoprotein to its cognate receptor on the eukaryotic cell. (sumobrain.com)
  • A particle acording to claim 11 , wherein the protease cleavage site becomes accessible after the heterologous polypeptide has bound to its cognate receptor on the eukaryotic cell. (sumobrain.com)
  • Receptor tyrosine kinases transmit signals from the cell surface into the cell through a process called signal transduction. (medlineplus.gov)
  • Mutated or overexpressed ALK receptor tyrosine kinase no longer requires stimulation from outside the cell to be phosphorylated. (medlineplus.gov)
  • At least 15 translocations involving the ALK gene have been identified in people with anaplastic large cell lymphoma (ALCL), a rare form of cancer involving immune cells called T cells. (medlineplus.gov)
  • T lymphocytes recognize and respond to foreign antigens by means of specific T cell receptors (TcR). (clinlabnavigator.com)
  • Beta genes rearrange in the early thymocyte of stage of T cell development. (clinlabnavigator.com)
  • Both rearrangements occur before the CD3-TcR complex is expressed on the cell surface. (clinlabnavigator.com)
  • Molecular analysis of the beta TcR gene rearrangements provides the most definitive assessment of T cell clonality. (clinlabnavigator.com)
  • TcR gene rearrangements are useful in the diagnosis of T cell malignancies such as T cell ALL and lymphoblastic lymphoma, mycosis fungoides, Sezary syndrome, T cell PLL/CLL, and adult T cell leukemia. (clinlabnavigator.com)
  • Cell lines with experimentally derived AR gene rearrangements displayed high expression of tumor-specific AR-Vs andwere resistant to endocrine therapies, including the AR antagonist enzalutamide. (wustl.edu)
  • Investigations have shown that these rearranged genes promote tumor cell growth and predict lack of benefit from therapies that inhibit EGF receptor (EGFR) activity. (mylabglobal.com)
  • Following the T cell receptor gene rearrangement, T lymphocytes are able of recognizing self-peptides-loaded MHC molecules expressed on thymic stromal cells. (blackmbauk.org)
  • Knowledge of the three dimensional structure of a gene product is of major assistance in predicting and understanding its function, its role within the cell and its role in disease. (biomedcentral.com)
  • Despite the fact that it is well-known that Vascular Endothelial Growth Factor (VEGF) binds to its receptor VEGFR and initiates endothelial cell proliferation, almost nothing is known about their involvement and mechanisms in the process of MTC metastasis.Interestingly, RET (RET/PTC) gene rearrangement, present in papillary thyroid carciomas, modulates the expression of many genes that could be involved on tumor growth and angiogenesis, such as CXCL12 and CXCR4. (fapesp.br)
  • Structural information, in combination with functional studies, suggests a mechanism for attachment and release of M. genitalium to and from the host cell receptor, in which Nap conformations alternate to sustain motility and guarantee infectivity. (nature.com)
  • The efficacy of cellular or humoral immunotherapy has been demonstrated with the success of chimeric antigen receptor T-cell therapy and the bispecific engager blinatumomab in treating advanced disease. (haematologica.org)
  • Constitutional syndromes such as Down syndrome and ataxia-telangiectasia are associated with increased risk of B-cell-ALL (with CRLF2 rearrangement) and T-cell-ALL, respectively. (haematologica.org)
  • These T-cell receptors mediate antigen recognition and antigen presentation. (world-of-peptides.com)
  • The mediation occurs through interactions between epitopes of an antigen and the corresponding paratopes of the T-cell receptor. (world-of-peptides.com)
  • To prevent these errors from occurring, the developing T-cells undergo selection based on their T-cell receptors affinity and specificity. (world-of-peptides.com)
  • Originally, it was thought that at the time of rearrangement the two alleles in each cell are equal substrates for activation, with the choice being made in a stochastic manner10,11. (estme.org)
  • Through the use of pre-B-cell clones, it was then demonstrated that it is this same allele that undergoes the first rearrangement in each cell12. (estme.org)
  • Diagnosis of SCL is most appropriately based on combination of histology, immunohistochemical phenotyping (CD3 - T-cell, CD79a - B cell), and polymer chain reaction to assess antigen receptor gene rearrangements (PARR). (vin.com)
  • PARR for the IGH gene may facilitate the diagnosis of cases histologically highly suggestive of T-cell gastrointestinal lymphoma in which PARR polyclonality of the TCRG gene is detected. (vin.com)
  • Because the CD19 receptor is also expressed on normal B cells, treatment causes B-cell aplasia-the depletion of a patient's B cells. (aacr.org)
  • He noted that recurrence can sometimes occur in the absence of B-cell recovery, in the form of tumor cells that do not express CD19 and can therefore evade functional CAR-T cells. (aacr.org)
  • The ability of T cells to recognize foreign antigens is mediated by the T cell receptor. (findmeacure.com)
  • The random nature of the genetic rearrangement results in a requirement of central tolerance mechanisms to remove or inactivate those T cells which bear a T cell receptor with the ability to recognise self-peptides. (findmeacure.com)
  • 2.Immature thymocytes each make distinct T cell receptors by a process of gene rearrangement. (findmeacure.com)
  • T cell activation, for example, needs three steps: (1) The lymphocyte T cell receptor (TCR) interacts with the antigen-loaded class II molecule in the first phase. (pharmacygyan.com)
  • The T cell becomes nonfunctional for a lengthy period if these three interactions do not occur. (pharmacygyan.com)
  • The T cell receptor is a heterodimer with two chains, one variable (V) and the other constant (C). The structure of an α/β TCR is shown in the Figure below. (pharmacygyan.com)
  • To create a repertoire of antigen-specific TCRs, alternative forms of genes present in somatic cells are rearranged in a process, called somatic cell recombination, by using RAG-1 and RAG-2 recombinase activating enzymes showing in above figure. (pharmacygyan.com)
  • immature cell is then subjected to negative selection to delete grouped based on their previously defined pheno- self-reactive cells before it leaves the BM to enter peripheral typic features, and a gene expression pattern for lymphoid organs, where it becomes a mature B cell [9]. (lu.se)
  • To reduce the risk of analyzing cell line- pathway can be divided into distinct stages based on the specific features, we used several representative cell lines for recombination status of the Ig genes and on the expression each of four major stages in B cell development: pro-B, pre-B, pattern of surface markers and the presence of intracellular proteins [1- 6]. (lu.se)
  • This activation occurs initially on only one allele, which undergoes JCC region demethylation and proceeds with rearrangement6,7,8 seemingly choosing from the full range of V Shikimic acid (Shikimate) segments9. (estme.org)
  • It is indicated for adults with previously treated, inoperable cholangiocarcinoma with FGFR2 gene fusions or other genetic rearrangements. (cancerhealth.com)
  • The approval was based on findings from the Phase II FIGHT-202 trial, which enrolled 107 people with locally advanced or metastatic cholangiocarcinoma with FGFR2 fusions or rearrangements who had received at least one prior line of treatment. (cancerhealth.com)
  • Overall survival results were still preliminary when the data were analyzed, but the median survival time of 21.1 months in this group far exceeded the 4.0 month duration seen in another patient cohort without FGFR2 fusions or rearrangements. (cancerhealth.com)
  • Although TRK fusions occur in fewer than 1% of all solid tumors, inhibition of TRK results in profound therapeutic responses, resulting in Breakthrough Therapy FDA approval of the TRK inhibitor larotrectinib for adult and pediatric patients with solid tumors, regardless of histology. (elsevierpure.com)
  • Although TRK fusions occurred in only 0.1% of patients (8 of 7,311 patients), they conferred responsiveness to TRK inhibition in vitro and in vivo in a patient-derived xenograft and a corresponding AML patient with ETV6-NTRK2 fusion. (elsevierpure.com)
  • A high frequency of gene fusions have been identified in mammary analogue secretory carcinomas (90%C100%)11 and secretory breast carcinomas ( 90%)12 in adult patients, and in infantile fibrosarcomas (91%C100%),34 other mesenchymal tumours (100%)41 and congenital mesoblastic nephromas (83%)42 in paediatric patients. (researchtoactionforum.org)
  • gene fusions are found at a lower frequency in radiation-associated papillary thyroid cancer (14.5%)43 in adult patients and papillary thyroid cancer (26%)35 and Spitzoid tumours (16%)16 in paediatric or adolescent patients. (researchtoactionforum.org)
  • PRINCETON, N.J., Sept. 30, 2022 /PRNewswire/ -- Taiho Oncology, Inc. and Taiho Pharmaceutical Co., Ltd. announced today that the U.S. Food and Drug Administration (FDA) has approved LYTGOBI ® tablets for the treatment of adult patients with previously treated, unresectable, locally advanced or metastatic intrahepatic cholangiocarcinoma (iCCA) harboring fibroblast growth factor receptor 2 (FGFR2) gene fusions or other rearrangements. (biospace.com)
  • 2,3 Within this 20%, approximately 10-16% of patients have FGFR2 gene rearrangements, including fusions, which promote tumor proliferation. (biospace.com)
  • LYTGOBI is indicated for the treatment of adult patients with previously treated, unresectable, locally advanced or metastatic intrahepatic cholangiocarcinoma harboring fibroblast growth factor receptor 2 (FGFR2) gene fusions or other rearrangements. (biospace.com)
  • The conversion of mature somatic cells into pluripotent stem cells, both by nuclear transfer and transduction with specific 'reprogramming' genes, represents a major advance in regenerative medicine. (ca.gov)
  • With the advances in BMT and gene therapy, patients now have a better likelihood of developing a functional immune system in a previously lethal genetic disease. (medscape.com)
  • However, age-related defects in other components of the immune system also occur and contribute to the increased frequency and severity of infectious diseases in the elderly. (biomedcentral.com)
  • These findings highlight a new level of Shikimic acid (Shikimate) immune system regulation that optimizes gene diversity. (estme.org)
  • T3 binds to the nuclear receptor (TR) and combines with another receptor (RXR) then combines with a receptor element on DNA. (cdc.gov)
  • VPREB1 deletions occur independent of lambda light chain rearrangement in childhood acute lymphoblastic leukemia. (nih.gov)
  • When developing B cells in their bone marrow express this BCR, the V(D)J recombination machinery will be activated, allowing for secondary Ig light-chain gene rearrangements to occur. (eur.nl)
  • Infections in DNA repair defects may occur due to primary defects in T, B, or NK cells and other factors such as anatomic defects, neurologic disorders, or during chemotherapy. (mdpi.com)
  • When this occurs, it is termed cross-lineage rearrangement and it has been documented in humans and canine lymphoid cancers. (vin.com)
  • PML-RARA represses genes responsible for hematopoiesis and activates super-enhancer genes responsible for specific characteristics of APL. (medscape.com)
  • The retinoic acid alpha receptor gene ( RARA ) is encoded by the long arm of chromosome 17. (medscape.com)
  • FAB M3) is a reciprocal translocation, t(15;17)(q22;q12), which serves to fuse the PML gene on chromosome 15 to the retinoic acid receptor alpha (RARA) gene on chromosome 17. (lu.se)
  • The alpha-beta receptor is expressed on 95% of mature T cells, whereas the remaining 5% of T cells express a gamma-delta receptor. (clinlabnavigator.com)
  • TcR beta and gamma genes are located on chromosome 7 and TcR alpha and delta genes are located on chromosome 14. (clinlabnavigator.com)
  • Altogether, the phage has 12 coding sequences (CDS) and 12 genes. (wikipedia.org)
  • These sequences of unknown function could be remnants of viral sequence insertions, a common feature with other Mollicute genomes, as they contain repeated clusters of genes that could be "mobile genetic elements or remnants of ancient phage attacks. (wikipedia.org)
  • Insertion of the viral sequences occurs by encoded putative transposases resembling those of insertion elements. (wikipedia.org)
  • For NGS, the gene sequences of IgH, IgK, and IgL were analyzed for rearrangements and translocations. (aacr.org)
  • Flow cytometry and nucleotide sequence analyses revealed that the V H n to V H a repertoire shift did not occur, demonstrating the requirement for interactions between GALT and intestinal microflora in the selective expansion of V H a B cells. (silverchair.com)
  • The new kinase inhibitor, developed by Incyte, blocks fibroblast growth factor receptor (FGFR) types 1, 2 and 3. (cancerhealth.com)
  • Two APL patients with simple variants of this translocation, t(3;15)(q21;q22) and t(X;15)(p11;q22), have previously been reported who lack cytogenetic involvement of chromosome 17, although their breakpoint positions on chromosome 15 still suggest the involvement of the PML gene. (lu.se)
  • Rearrangements of genetic material involving the ALK gene on chromosome 2 increase the risk of developing several other types of cancer. (medlineplus.gov)
  • One type of rearrangement, called a translocation, exchanges genetic material between chromosome 2 and another chromosome. (medlineplus.gov)
  • Recognition of a single-gene disorder as causal for a patient's 'multiple sclerosis-like' phenotype is critically important for accurate direction of patient management, and evokes broader genetic counselling implications for affected families. (medscape.com)
  • Secondary B lymphopoiesis is an antigen-dependent process and occurs in the germinal center of peripheral lymphoid organs with specific antibody production. (medscape.com)
  • Splenomegaly is present in approximately 50% of patients at presentation, and hepatosplenomegaly may occur. (medscape.com)
  • As a Plectrovirus, the phage's entry mechanism is adsorption to membrane-bound cellular receptors. (wikipedia.org)
  • Conclusions: AR gene rearrangements are an important mechanism of resistance to endocrine therapies in CRPC. (wustl.edu)
  • The precise mechanism for cross-lineage rearrangement in lymphocytes is unclear. (vin.com)
  • human neuronal tissue.3C5 All three TRK receptors include an extracellular ligand-binding domain, a transmembrane region and an intracellular adenosine triphosphate-binding domain.2 6 TRK receptors are activated when neurotrophin ligands bind towards the extracellular site from the receptor (figure 1A). (researchtoactionforum.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 most common translocation in ALCL occurs between chromosome 2 and chromosome 5, called t(2;5). (medlineplus.gov)
  • About half of people with IMT have a translocation involving the ALK gene. (medlineplus.gov)
  • To overcome this limitation, TcR genes undergo a complex series of DNA rearrangements to produce more than one billion unique receptors. (clinlabnavigator.com)
  • Association of VPREB1 Gene Copy Number Variation and Rheumatoid Arthritis Susceptibility. (nih.gov)
  • The potential role of VPREB1 gene copy number variation in susceptibility to rheumatoid arthritis. (nih.gov)
  • No single gene rearrangement predominates and none are detectable by Southern blot. (clinlabnavigator.com)
  • Several single gene disorders share clinical and radiologic characteristics with multiple sclerosis and have the potential to be overlooked in the differential diagnostic evaluation of both adult and paediatric patients with multiple sclerosis. (medscape.com)
  • Here we review single gene disorders that have the potential to mimic multiple sclerosis, provide an overview of clinical and investigational characteristics of each disorder, and present guidelines for when clinicians should suspect an underlying heritable disorder that requires diagnostic confirmation in a patient with a definite or probable diagnosis of multiple sclerosis. (medscape.com)
  • The process of gene rearrangements is prone to errors which could lead to the development of either non-functional T-cells or T-cells which react strongly to self-antigens (autoreactive T-cells). (world-of-peptides.com)
  • Secondary T lymphopoiesis is also an antigen-dependent process and occurs in the thymus. (medscape.com)
  • Studies have shown that this immunomodulator molecule does occur naturally in the thymus. (world-of-peptides.com)
  • This occurs in the central medulla of each lobe of the thymus. (world-of-peptides.com)
  • The fusion gene product causes the retinoic acid receptor to bind more tightly to the nuclear co-repressor factor. (medscape.com)
  • Therefore, the gene cannot be activated with physiologic doses of retinoic acid. (medscape.com)
  • This phenomenon, known as gene amplification, results in overexpression of ALK receptor tyrosine kinase. (medlineplus.gov)
  • AR gene rearrangements occurring in the context of AR amplification correlated with AR overexpression. (wustl.edu)
  • In addition, we use an innovative super-resolution-microscopy approach resolving the rearrangement of proteins within the presynaptic neurotransmitter release site, which allows high-throughput screening of all major classes of synaptic genes for their involvement in presynaptic plasticity. (europa.eu)
  • This phenomenon, called receptor editing, will rescue autoreactive B cells from apoptosis. (eur.nl)
  • More recently, crizotinib (ALK inhibitor) has been recommended as first-line systemic therapy for lung cancer patients with ALK rearrangements. (mylabglobal.com)
  • To characterize gene expression signatures in acute lymphocytic leukemia (ALL) cells associated with known genotypic abnormalities in adult patients. (aacrjournals.org)
  • Gene expression profiles from 128 adult patients with newly diagnosed ALL were characterized using high-density oligonucleotide microarrays. (aacrjournals.org)
  • 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)
  • Retinal Pigment Epithelial Detachment (RPED) , which may cause symptoms such as blurred vision, occurred in 9% of 318 patients who received LYTGOBI across clinical trials. (biospace.com)
  • It is mainly expressed in hematopoietic cells and has an important role in regulating gene expression. (medscape.com)
  • CRISPR/Cas9 mediated knock-out of VPREB1 gene induces a cytotoxic effect in myeloma cells. (nih.gov)
  • Although the specific function of ALK receptor tyrosine kinase is unknown, it is thought to act early in development to help regulate the proliferation of nerve cells. (medlineplus.gov)
  • Constitutive activation of ALK receptor tyrosine kinase may increase the proliferation of immature nerve cells, leading to neuroblastoma. (medlineplus.gov)
  • All malignant cells contain an identical gene rearrangement pattern that is easily identifiable by Southern blot analysis. (clinlabnavigator.com)
  • In contrast, a polyclonal proliferation of lymphocytes is due to division of millions of different B and T cells, each containing a different set of gene rearrangements. (clinlabnavigator.com)
  • In this study, we utilized humanized Rag1KO.IL2RγcKO.NOD mice expressing HLA class II (DR4) molecule (DRAG mice) infused with HLA-matched hematopoietic stem cells from umbilical cord blood to study early events after HIV-1 infection, since the mucosal tissues of these mice are highly enriched for human lymphocytes and express the receptors and coreceptors needed for HIV-1 entry. (bvsalud.org)
  • If the lymph node cells were analyzed by polymerase chain reaction (PCR) to assess Ig heavy-chain rearrangements, what abnormal finding would you expect? (basicmedicalkey.com)
  • Inflammaging is driven by several factors, such as single nucleotide polymorphisms in the promoter regions of pro- and anti-inflammatory genes, chronic stimulation of immune cells with pathogens, changes in the composition of the gut microbiota, and cellular senescence [ 8 ]. (biomedcentral.com)
  • The iodine hormone exerts its action on receptors on the nucleus in cells. (cdc.gov)
  • It regulates the receptor for cholesterol, takes it out of the blood stream and puts it into the cells. (cdc.gov)
  • It is metabolized so one iodine atom is removed to produce T3 - about 10 times as active as T4 in binding to a receptor that exerts the action as receptor to the thyroid hormone. (cdc.gov)
  • Furthermore, lymphomagenesis requires the expression of both prerearranged TCRalpha and TCRbeta genes, indicating a critical role for TCR signaling. (ca.gov)
  • AR gene rearrangements promoted expression of diverse AR-V species. (wustl.edu)
  • T-lineage ALL was characterized by a homogeneous gene expression pattern, whereas several subgroups of B-lineage ALL were evident. (aacrjournals.org)
  • BCR/ABL + gene expression pattern was more heterogeneous and was most similar to ALL without known molecular rearrangements. (aacrjournals.org)
  • HA binding receptor, CD44 and LYVE-1 expression were also upregulated in the CsA groups, and were localized to the area of fibrosis and the peritubular capillaries of the cortex. (mmp-signal.com)
  • Based on different gene expression profiles, subtypes of macrophages (eg, M1, M2), which have different roles in amplifying or limiting the inflammatory response, have been identified. (msdmanuals.com)
  • tures and gene expression patterns. (lu.se)
  • 3. Translational research - to identify predictive biomarkers for treatment decision - by immunohistochemistry, gene expression or sequencing. (lu.se)
  • Rearrangement of immune receptor loci in B and T lymphocytes takes place in an ordered developmental manner using transcription factors and regulatory elements to open up and turn on the rearrangement process at each individual cluster during its specific stage of differentiation1,2,3,4,5. (estme.org)
  • In X-linked SCID, loss of IL-2 receptor (IL-2R) function leads to the loss of a lymphocyte proliferation signal. (medscape.com)
  • and (iv) genes harboring germline non-silent variants presumed to confer a risk of sporadic ALL. (haematologica.org)
  • Two other kinases (PRKCB1 and DDR1) were highly expressed in cases without molecular rearrangements, as well as in BCR/ABL-positive ALL. (aacrjournals.org)