• Translocations involving the RARA gene and other genes have been identified in a few cases of acute promyelocytic leukemia. (medlineplus.gov)
  • Translocations, deletions, tandem duplications, and inversions (Fig. 1) are 4 standard forms of chromosomal rearrangement [6]. (calcimimeticagent.com)
  • Translocations trigger the switch of genetic components amongst distinctive chromosomes. (calcimimeticagent.com)
  • T-cell acute lymphoblastic leukemia (T-ALL) is characterized by translocations of oncogenic transcription factor genes and T-cell receptor loci. (empiregenomics.com)
  • CSF1 rearrangements were identified by FISH in 30 cases: 13 translocations, 17 3' deletions. (ubc.ca)
  • Chromosome analyses showed numeral abnormalities such as 5n ploidies and various kinds of structural abnormalities, such as deletions, translocations, derivatives and isodicentric chromosomes. (biomedcentral.com)
  • Translocations involving TCF3 are some of the most common rearrangements in childhood B-cell acute lymphoblastic leukaemia (ALL) 1,2 . (ogt.com)
  • These become fused to TCF3 as a result of the t(1;19)(q23;p13) and t(17;19)(q22;p13) translocations, forming the TCF3-PBX1 and TCF3- HLF fusion genes, respectively. (ogt.com)
  • The authors found 17 novel mutations, including a complex gene rearrangement found in one individual involving two deletions and a duplication. (neurology.org)
  • Deletions of the short arm of chromosome 7, originated from either a terminal or an interstitial deletion are less frequent and their pathological significance is less well characterized. (atlasgeneticsoncology.org)
  • Array comparative genomic hybridization (CGH) was performed to detect copy number variations on a genome-wide scale, and quantitative real-time polymerase chain reaction (qPCR) assays were designed to validate the identified copy number variation in the index and other family members.ResultsNo mutations were found in genes or loci linked to isolated SHFM. (ox.ac.uk)
  • ALL cancers have lots of additional changes, the so-called 'passenger' mutations, that may contribute to the cancer, but are not the main genes. (cancerquest.org)
  • Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked methyl CpG binding protein 2 ( MeCP2 ) gene. (neurology.org)
  • One hundred sixteen patients with classical and atypical RTT were studied for mutations of the MeCP2 gene by using DHPLC and direct sequencing. (neurology.org)
  • Causative mutations in the MeCP2 gene were identified in 63% of patients, representing a total of 30 different mutations. (neurology.org)
  • This patient series confirms the high frequency of MeCP2 gene mutations causative of RTT in females and provides data concerning the molecular basis for clinical variability (mutation type and position and X-inactivation patterns). (neurology.org)
  • Initially, six different mutations in the MeCP2 gene were described in both sporadic and familial cases of RTT. (neurology.org)
  • The regenerated genome-edited events of Gonja Manjaya showed mutations in the targeted sites with the potential to prevent proper transcription or/and translational into functional viral proteins. (nature.com)
  • By focusing on the X chromosomes of affected males, the researchers noted an additional seven genes with multiple loss-of-function mutations. (genomeweb.com)
  • A number of these novel genes were uncovered in multiple families: mutations in PHF3, which encodes a PHD finger protein that regulates transcription, were found in four families, while MED13 was mutated in three families. (genomeweb.com)
  • Mutations in these genes affect proteins involved in the signaling pathway for pigment production and explain a large amount of the color variation in mammals. (creation.com)
  • SCID results from mutations in any of more than 15 known genes. (medscape.com)
  • Genetic analyses have provided a wealth of information on the genectic constitution of STT, and clearly nonrandom patterns of genetic changes, ranging from point mutations and gene fusions to massive genomic imbalalnces, have been identified in each histological entity studied in sufficient detail. (lu.se)
  • By way of example, in prostate cancer, the TMPRSS2-ERG fusion genes are generated from interstitial deletion of chromosome 21q22 [8]. (calcimimeticagent.com)
  • BACKGROUND Smith-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation syndrome associated with a hemizygous deletion of chromosome 17, band p11.2. (bmj.com)
  • December 17, 2020 - New research from the University of Oxford shows that plant mutation rates accelerate with increasing environmental temperatures. (cshlpress.com)
  • The patient was unique in that her condition was less severe than the majority of 9q deletion cases, suggesting that her "…clinical synopsis is not predicted simply by the roles of each of the genes involved in this novel interstitial deletion. (empiregenomics.com)
  • Linkage analysis and direct sequencing of candidate genes were used to exclude six responsible genes/loci for isolated SHFM. (ox.ac.uk)
  • We have been fascinated by the process of yeast mating-type gene switching, in which cells replace about 700 bp of Ya or Y-specific DNA sequences at the MAT locus by recombining with one of two donor loci, called HMLDescription: image3 and HMRa. (brandeis.edu)
  • 1 Some of these, such as the MC1R 2 and ASIP 3 genes, have been fairly well studied and useful information has been obtained by examining mutation patterns at these loci. (creation.com)
  • Lateral gene transfers resulted in different linkages between the ospC gene and loci of the chromosome or other plasmids. (cdc.gov)
  • Specifically, this protein helps control the transcription of certain genes important in the maturation (differentiation) of white blood cells beyond the promyelocyte stage. (medlineplus.gov)
  • 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)
  • 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 lot of fusion genes are generated via translocation,?017 Bentham Science Publishers1389-2029/17 58.00+.Recurrent Fusion Genes in LeukemiaCurrent Genomics, 2017, Vol. 18, No.Fig. (1). (calcimimeticagent.com)
  • The next step to discover much more in regards to the rearrangement is fluorescence in situ hybridization (FISH), utilizing probes which span the chromosomal breakpoints, to ensure that it might locate the breakpoints380 Current Genomics, 2017, Vol. 18, No.Wa. (calcimimeticagent.com)
  • Empire Genomics' RP11-51F24 FISH probe helped to confirm CNTN4 loss in a patient with deletion of the gene. (empiregenomics.com)
  • Empire Genomics' RP11-451A20 FISH probe was used to confirm duplication and rearrangement of 3p. (empiregenomics.com)
  • FISH probes from Empire Genomics verified the 1qter and 10qter rearrangement after microarray analysis. (empiregenomics.com)
  • The protein produced from the PML gene acts as a tumor suppressor, which means it prevents cells from growing and dividing too rapidly or in an uncontrolled way. (medlineplus.gov)
  • This first category also includes genes that contribute to tumor growth by inhibiting cell death. (cancerquest.org)
  • The genes in the second group are called tumor suppressors. (cancerquest.org)
  • This is in contrast with tumor suppressor genes which must BOTH be defective to lead to abnormal cell division. (cancerquest.org)
  • This gene is also a translocation partner in anaplastic large cell lymphoma and inflammatory myofibroblastic tumor cases, where a t(2;17)(p23;q25) translocation has been identified with the anaplastic lymphoma kinase (ALK) gene on chromosome 2, and a t(8;17)(q24;q25) translocation has been identified with the MYC gene on chromosome 8. (cancerindex.org)
  • Screening of 288 OS and 1,090 tumors of other types revealed evidence for TP53 rearrangements in 46 (16%) OS, while none were detected in other tumor types, indicating this rearrangement to be highly specific to OS. (oncotarget.com)
  • Tenosynovial giant cell tumors (TGCTs) are characterized by rearrangements in CSF1, thought to drive overexpression of macrophage colony-stimulating factor (CSF1), thereby promoting tumor growth and recruitment of non-neoplastic mononuclear and multinucleated inflammatory cells. (ubc.ca)
  • In one study, researchers mapped single-nucleotide variation, indels, and copy-number variations involved in ASD - the Hospital for Sick Children's Steven Scherer and his colleagues uncovered 18 new candidate genes in that effort. (genomeweb.com)
  • According to the bioinformatic analysis result of TUG1 4C sequencing data, 83 candidate genes and their interaction regions were identified. (biomedcentral.com)
  • Among these candidate genes, CUGBP and Elav-like family member 1 ( CELF1 ) are potential targets of TUG1 in-trans regulation. (biomedcentral.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)
  • Complete or partial loss of chromosome 7 is a recurrent cytogenetic abnormality that may be observed in both de novo and therapy-related hematopoietic disorders. (atlasgeneticsoncology.org)
  • A rearrangement of genetic material (translocation) between chromosomes 15 and 17, written as t(15;17), fuses part of the PML gene with part of the RARA gene. (medlineplus.gov)
  • Through genetic linkage studies, we showed X-linked dominant inheritance of RTT and mapped the disease trait to the Xq28 region of the X chromosome. (neurology.org)
  • Even the role of MHC genes remains to be fully defined, and may involve interactive genetic effects. (biomedcentral.com)
  • In addition, stochastic genetic or physiologic events may contribute to the low penetrance of susceptibility genes. (biomedcentral.com)
  • This situation parallels developing paradigms for other autoimmune disorders, in which many different genes each appear to contribute a small amount to overall risk for disease, and where severity and specific phenotypic subtypes are subject to genetic effects. (biomedcentral.com)
  • A total of 7 possible genetic alterations and epigenetic changes in CAFs are discussed, including gene differential expression, karyotype analysis, gene copy number variation, loss of heterozygosis, allelic imbalance, microsatellite instability, post‑transcriptional control and DNA methylation. (spandidos-publications.com)
  • Genetic alterations include genetic mutation, gene copy number variation (CNV), loss of heterozygosity (LOH), allelic imbalance (AI) and microsatellite instability (MSI). (spandidos-publications.com)
  • Genes with monoallelic expression contribute disproportionately to genetic diversity in humans. (homologyeffects.org)
  • 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)
  • A cryptic involvement of RARA was demonstrated in both patients by a combination of Southern analysis, reverse transcription coupled to PCR (RT-PCR), and fluorescence in situ hybridization. (lu.se)
  • Two cohorts of TGCT were investigated for CSF1 rearrangements using fluorescence in situ hybridization (FISH) and either RNA-seq or DNA-seq with Sanger validation. (ubc.ca)
  • They were characterized by immunofluorescence, classical cytogenetics, p53 gene mutational analysis, fluorescence in-situ hybridization, and histopathological and immunohistochemical examinations of their xenografts, to demonstrate their potency of secondary transformation. (biomedcentral.com)
  • This gene is a susceptibility gene for Moyamoya disease, a vascular disorder of intracranial arteries. (cancerindex.org)
  • Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1. (cancerindex.org)
  • 8 The MeCP2 protein, initially characterized by its ability to bind single methylated CG nucleotides, 9 plays a significant role in the transcriptional silencing of genes. (neurology.org)
  • In functional analyses, they found that 80 percent of the risk genes were connected to gene networks often involved in synaptic transmission, transcriptional regulation, and RNA processing. (genomeweb.com)
  • Of the 31 genes, the 21 upregulated genes were primarily associated with cell paracrine and intracellular signaling, transcription regulation and cell adhesion and migration, and their transcriptional products included transforming growth factor-β2 (TGF-β2), insulin-like growth factor-binding protein 2 and transcriptional factor AP-2α/γ ( 11 ). (spandidos-publications.com)
  • These are frequently activated by fusion to other transcriptional proteins resulting in chimeric transcription factors. (stanford.edu)
  • We demonstrate here that GSK-3 maintains the MLL leukemia stem cell transcriptional program by promoting the conditional association of CREB and its coactivators TORC and CBP with homedomain protein MEIS1, a critical component of the MLL-subordinate program, which in turn facilitates HOX-mediated transcription and transformation. (stanford.edu)
  • 2) We have discovered a group of oncoproteins that are implicated in long-term maintenance of gene expression through their effects on the state of chromatin. (stanford.edu)
  • We are studying the role that normal chromatin structure plays in gene regulation in hematopoietic cells and how its disruption leads to altered development and cancer. (stanford.edu)
  • Cytosine modifications directly affect the positioning of nucleosomes (the first level of chromatin organization into chromosome involving the DNA chain wound around a core of 8 histone proteins), and recruit chromatin-modifying complexes that modify histones. (i-sis.org.uk)
  • Fusion genes are mainly generated from chromosomal rearrangements and abnormal transcription, however the former 1 is a lot more prevalent. (calcimimeticagent.com)
  • Fusion genes can also arise by means of transcription-induced chimeras, that is unrelated to chromosomal rearrangements. (calcimimeticagent.com)
  • HER2/neu (also called ERB B2 ) is the gene that encodes the human epidermal growth factor receptor type 2. (cancerquest.org)
  • This gene encodes a protein containing a C3HC4-type RING finger domain, which is a specialized type of Zn-finger that binds two atoms of zinc and is thought to be involved in mediating protein-protein interactions. (cancerindex.org)
  • TOP2A encodes an enzyme which is implicated in almost any process of DNA metabolism including transcription, replication, movement and untangling [ 3 , 8 , 9 ], which catalyze the passage of two DNA duplexes across each other to resolve the entanglements and coiling of cellular DNA [ 10 ]. (jcancer.org)
  • The prostaglandin-endoperoxide synthase 2 gene (PTGS2), which encodes cyclooxygenase-2, was found to upregulate the expression of TGF-β2 ( 14 ). (spandidos-publications.com)
  • This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. (cancerindex.org)
  • The regulation of WUS transcription is crucial for meristem homeostasis, whereby high WUS expression leads to enlarged meristems and low expression leads to the formation of small meristems 3 , 14 . (nature.com)
  • We have shown that this regulation involves the action of a small Recombination Enhancer (RE) sequence that enables a donor on the left chromosome arm to recombine preferentially in MATa cells. (brandeis.edu)
  • Our studies have demonstrated that several of the proteins encoded by cellular oncogenes function in fundamental aspects of gene regulation. (stanford.edu)
  • We used circular chromosome conformation capture (4C) coupled with next-generation sequencing to explore the genome regions that interact with TUG1 and the TUG1 -mediated regulation. (biomedcentral.com)
  • MLLT6, PHD finger containing is a protein that in humans is encoded by the MLLT6 gene. (wikipedia.org)
  • Physical mapping studies indicate that all patients with the common deletion are haploinsufficient for subunit 3 of the COP9 signalosome ( COPS3 ), which is conserved from plants to humans, and in the plant Arabidopis thaliana regulates gene transcription in response to light. (bmj.com)
  • Stabell M , Sæther T, Røhr ÅK, Gabrielsen OS, Myklebost O (2021) Methylation-dependent SUMOylation of the architectural transcription factor HMGA2. (uib.no)
  • The mutation that causes acute promyelocytic leukemia involves two genes, the PML gene on chromosome 15 and the RARA gene on chromosome 17 . (medlineplus.gov)
  • The PML-RARα protein functions differently than the protein products of the normal PML and RARA genes. (medlineplus.gov)
  • The PML-RARA gene fusion accounts for up to 98 percent of cases of acute promyelocytic leukemia. (medlineplus.gov)
  • 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)
  • 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)
  • A diagram showing the major cancer genes for some cancers. (cancerquest.org)
  • Multiple KAs should raise suspicion of Muir-Torre syndrome, a genodermatosis with a defect in the MSH mismatch repair gene that is associated with sebaceous neoplasms and gastrointestinal cancers. (medscape.com)
  • Formation of Fusion Genes Different fusion genes can lead to cancers, so it is extremely required to comprehend their causes. (calcimimeticagent.com)
  • Long noncoding RNAs (lncRNAs) play crucial roles in tumorigenesis, and lncRNA taurine-upregulated gene 1 ( TUG1 ) has been proven to be associated with several human cancers. (biomedcentral.com)
  • Because of their role in genomic instability and gene amplification in some human cancers, it is important to develop systematic approaches to detect and characterize DNA palindromes. (biomedcentral.com)
  • These events are dependent on the proper levels of transcription and translation of certain genes. (cancerquest.org)
  • Because we showed that integration neither affects the levels of viral genes, nor those of virally disrupted human genes, a genome-wide screen was performed to identify human genes which expression is influenced by viral integration and have clinical relevance. (cancerindex.org)
  • 10 Germline variants of IKZF1 are observed in familial B-ALL and immunodeficiency, 16 , 17 and somatic IKZF1 alterations are enriched in Philadelphia chromosome (Ph)-positive, Phlike, and DUX4 -rearranged B-ALL. (haematologica.org)
  • Using whole-genome sequencing of OS, we found features of TP53 intron 1 rearrangements suggesting a unique mechanism correlated with transcription. (oncotarget.com)
  • By means of DNA sequencing of a large sample collection of the pathogen from across the United States, we studied the gene for the bacterium's highly diverse OspC protein, protective immunity against which develops in animals. (cdc.gov)
  • Note that by convention gene names are italicized and the proteins they make are not. (cancerquest.org)
  • By contrast, the 10 downregulated genes were primarily associated with epithelial membrane proteins ( 11 ). (spandidos-publications.com)
  • 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)
  • Recently, recurrent genomic rearrangements in intron 1 of TP53 have been described in osteosarcoma (OS), a highly malignant neoplasm of bone belonging to the spectrum of LFS tumors. (oncotarget.com)
  • Recurrent EWSR1-CREB3L1 Gene Fusions in Sclerosing Epithelioid Fibrosarcoma. (lu.se)
  • Recurrent PRDM10 Gene Fusions in Undifferentiated Pleomorphic Sarcoma. (lu.se)
  • and (iv) genes harboring germline non-silent variants presumed to confer a risk of sporadic ALL. (haematologica.org)
  • Three transcript variants encoding different isoforms have been found for this gene. (cancerindex.org)
  • A distinct ZmFCP1-FEA3 ligand-receptor combination, originally identified in maize, prevents WUS gene expression in the region below the OC (also called rib zone, RZ), thus confining WUS expression within the OC of meristems 6 . (nature.com)
  • Throughout the similar period, some other fusion genes had also been discovered in B cell lymphomas, like IGH?MYC, IGL YC and IGK YC. (calcimimeticagent.com)
  • The formation of fusion genes via chromosomal rearrangement. (calcimimeticagent.com)
  • The massive blue arrows indicate the resulting fusion genes. (calcimimeticagent.com)
  • At times a fusion gene is brought on by deletion, which only entails 1 chromosome. (calcimimeticagent.com)
  • Dihydroxyacetone phosphate hemimagnesium Autophagy Furthermore towards the above two mechanisms, fusion genes also can arise through tandem duplications or inversions. (calcimimeticagent.com)
  • For example, the FGFR3-TACC3 fusion genes in glioblastoma outcome from tandem duplication on 4p16.three [9]. (calcimimeticagent.com)
  • The diversity of fusion partners but consistent integrity of CSF1 functional domains encoded by exons 1-5 support a hypothesis that CSF1 overexpression results from transcription of a truncated form of CSF1 lacking 3' negative regulatory sequences. (ubc.ca)
  • A rare cryptic inversion, inv(19)(p13;q13), has been reported to fuse TCF3 to TFPT ( TCF3 fusion partner ) resulting in the TCF3-TFPT fusion gene 1 . (ogt.com)
  • The functional fusion gene resides at chromosome 19. (ogt.com)
  • This is the process we have studied most intensively, but we are also interested in an alternative process known as break-induced replication (BIR), where only one end of a chromosome break locates a template sequence and assembles a complete replication fork and can copy sequences to the end of a chromosome, producing a nonreciprocal translocation. (brandeis.edu)
  • The protein is likely to be involved in the response to DNA damage during replication, as well as in the replication and transcription processes. (medscape.com)
  • Soon after fertilization, the vast majority of methylcytosine in sperm is converted by the Tet3 enzyme to hydroxymethylcytosine that gets lost by dilution during replication, effectively erasing cytosine methylation patterns except for a subset that is maintained, including those of some imprinted genes. (i-sis.org.uk)
  • Furthermore, reverse transcription‑quantitative PCR was used to examine the expression levels of circular RNA‑PVT1 (circ‑PVT1), micoRNA‑195‑5p (miR‑195‑5p) and ETS1 in GC tissues and cells. (spandidos-publications.com)
  • This mechanism also applies to hematopoietic cells transformed by other HOX genes, including CDX2, which is highly expressed in a majority of acute myeloid leukemias, thus providing a molecular approach based on GSK-3 inhibitory strategies to target HOX-associated transcription in a broad spectrum of leukemias. (stanford.edu)
  • This study reported the first case of T-ALL with TCR alpha/delta (TRA/D) locus rearrangements associated with t(11;14)(p13;q11.2), inv(14)(q11.2q32), and clonal evolution of JAK2 rearrangement. (empiregenomics.com)
  • Given that Wsm2 is likely duplicated through an intrachromosomal illegitimate recombination and that Wsm2 is dominant, we inferred that this new WSMV-resistance gene acquired an activation domain, lost an inhibition domain, or gained high expression compared to its ancestor locus. (peerj.com)
  • Intragenic recombination among ospC genes is known, but the extent to which recombination extended beyond the ospC locus itself is undefined. (cdc.gov)
  • The CBFB-MYH11 fusions are formed by inversion on chromosome 16, that are presented within the M4E0 subtype of AML [10]. (calcimimeticagent.com)
  • In participating UK research institutions, investigators can publish open access in Genome Research, Genes & Development, RNA, and Learning & Memory without article publication charges and all staff can read the entire renowned Cold Spring Harbor journal collection. (cshlpress.com)
  • Despite the differences in their normal roles, these genes all contribute to unregulated cell division if they are present in a mutant (oncogenic) form. (cancerquest.org)
  • Epigenomic features of DNA G-quadruplexes and their roles in regulating rice gene transcription. (zhangtaolab.org)
  • De Novo Centromere Formation in Pericentromeric Region of Rice Chromosome 8. (zhangtaolab.org)
  • In the WSMV resistance tests, we found that rice has a WMSV resistance gene while Brachypodium does not, which allowed us to hypothesize the presence of a Wsm2 ortholog in rice. (peerj.com)
  • Our OrthoMCL analysis of protein coding genes on wheat chromosome 3B and its syntenic chromosomes in rice and Brachypodium discovered 4,035 OrthoMCL groups as preliminary candidates of Wsm2 orthologs. (peerj.com)
  • Although mutation- or pathway-directed targeted therapy (e.g., using tyrosine kinase inhibitors to treat Philadelphia chromosome [Ph]-positive and Phlike B-cell-ALL) is currently available for only a minority of children with ALL, many of the newly identified molecular alterations have led to the exploration of approaches targeting deregulated cell pathways. (haematologica.org)
  • The present review summarizes the recent achievements in understanding the gene profiles of CAFs and pays special attention to their possible epigenetic alterations. (spandidos-publications.com)
  • We are also interested in gene targeting methods and in figuring out why these types of gene replacement and modification are quite inefficient, even in yeast. (brandeis.edu)
  • The myeloproliferative neoplasms (MPNs) are a heterogeneous group of chronic hematological malignancies that are generally divided into the Philadelphia chromosome-positive (Ph-positive) MPNs, which refers to chronic myelogenous leukemia (CML) and the Philadelphia chromosome-negative (Ph-negative) MPNs. (cancernetwork.com)
  • Using synchronized cells undergoing recombination that is initiated at a specific site on a chromosome by an inducible endonuclease, we use physical monitoring techniques (Southern blots, PCR analysis) to follow the sequence of molecular events that occur in real time. (brandeis.edu)
  • These genes have been found to be either malfunctioning or non-functioning in many different kinds of cancer. (cancerquest.org)
  • The toddler was found to have the first reported balanced chromosomal complex rearrangement involving chromosomes 1, 9 and 10, inherited from his partially affected mother. (empiregenomics.com)
  • The investigators also found instances of extreme rearrangements, including of chromoanasynthesis and chromothripsis. (genomeweb.com)
  • In young adults, mutation in the Werner syndrome (WS) gene is believed to be associated with clinical symptoms typically found in elderly individuals. (medscape.com)
  • We found that the distributions and frequencies of types of OspC genes differed between populations of B. burgdorferi in the Northeast, the Midwest, and California. (cdc.gov)
  • Scherer and his colleagues noted that about 60 percent of these 61 autism-risk genes were associated with syndromes or phenotypes, typically related to intellectual disability, in the Online Mendelian Inheritance in Man database. (genomeweb.com)
  • Of the 30,000 or so genes that are currently thought to exist in the human genome , there is a small subset that seems to be particularly important in the prevention, development, and progression of cancer. (cancerquest.org)
  • in one study, 31 genes in breast CAFs, which were identified using Affymetrix Human Genome U133 Plus 2.0 and an empirical Bayesian model, were different from those in NFs ( 11 ). (spandidos-publications.com)
  • Genes whose protein products stimulate or enhance the division and viability of cells. (cancerquest.org)
  • Genes whose protein products can directly or indirectly prevent cell division or lead to cell death. (cancerquest.org)
  • They identified 11,735 SVs, about 17 percent of which were balanced or complex SVs (cxSVs). (genomeweb.com)
  • This complex gene codes for a complex protein important in a number of pathways. (creation.com)
  • The KIT gene is rather complex consisting of 21 exons in a 70 kb region. (creation.com)
  • This complex organization of the gene reflects the complex nature of the protein receptor it produces. (creation.com)
  • Among these are traits that depend on functional meristems, populations of stem cells maintained by the CLAVATA-WUSCHEL (CLV-WUS) negative feedback-loop that controls the expression of the WUS homeobox transcription factor. (nature.com)
  • This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. (cancerindex.org)