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Welcome to the Pubget Medical Subject Headings (MESH) browser. Click on a topic or subtopic below to explore related papers. In the gold box is the most recent paper about the current MESH term, and below are 20 related papers.
Translocation, Genetic (1):
Recent article
Translocation, Genetic
Biochimica et Biophysica Acta (1809)9 2011
Abstract
We review chromatin-associated signals that are recognized by remodelers. It is discussed how these regulate the remodeling reaction via changing the nucleosome substrate/product binding affinity or the catalytic translocation rate. Finally, we address the question of how chromatin remodelers operat...
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PMID: 21704204
PDF is available here.
PDF is available here.
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Cancer Genetics (204)8 2011
Abstract
We report the case of a 57-year-old man, who was diagnosed with B-cell acute lymphoblastic leukemia (B-ALL). His diagnostic workup identified a translocation t(3;9)(p13;p13). This is the fifth case reported to date that involved the forkhead box P1 gene (FOXP1) and paired box gene 5 (PAX5). The PAX5...
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PMID: 21962897
PDF is available here.
PDF is available here.
Abstract
We studied 17 MDS (11 de novo and 6 therapy related) and 3 chronic myelomonocytic leukemia (CMML) cases associated with inv(3) (q21q26.2) or t(3;3)(q21;q26.2). The de novo cases were further classified as refractory cytopenia with multilineage dysplasia (n = 8) and refractory anemia with excess blas...
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PMID: 21757602
PDF is available here.
PDF is available here.
Abstract
We built a dynamical model to test whether pure diffusion could account for the observed co-localization of genes within a defined subnuclear region. A simple standard Brownian motion model in two and three dimensions shows that preferential co-localization is possible for co-regulated genes without...
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PMID: 21760760
PDF is available here.
PDF is available here.
Abstract
We have previously shown that RAD50 is involved in mitotic nonhomologous integration but not in homologous integration. However, the role of Rad50 in nonhomologous integration has not previously been examined. In the current work, we report that the rad50∆ mutation caused a tenfold decrease in the...
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PMID: 21512733
PDF is available here.
PDF is available here.
Biochimica et Biophysica Acta (1809)9 2011
Abstract
We review the available data and integrate the results with structural and biochemical studies of related enzymes to derive a model for Mot1's catalytic action consistent with the broad literature on enzymes in this family. We propose that the Mot1 ATPase domain is tethered to TBP by a flexible, spr...
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PMID: 21658482
PDF is available here.
PDF is available here.
Abstract
In the era of novel agents such as lenalidomide and bortezomib, risk stratification by chromosomal abnormalities may enable a more rational selection of therapeutic approaches in patients with multiple myeloma (MM).
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PMID: 21523726
PDF is available here.
PDF is available here.
Abstract
Abstract
We have applied optimized sequencing and analysis strategies to test whether these potentially high-impact variants can be mapped at reasonable cost and throughput. By using a whole-genome multiplexing strategy, rearrangement breakpoints could be delineated at a fraction of the cost of standard sequ...
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PMID: 21473983
PDF is available here.
PDF is available here.
Abstract
To assess the PGD results in couples with robertsonian and reciprocal translocations.
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PMID: 21649991
PDF is available here.
PDF is available here.
Rinsho Ketsueki (52)4 2011
Abstract
Abstract
New England Journal of Medicine (364)11 2011
Abstract
Abstract
We report two rare genetic aberrations in a schizophrenia patient that may act together to confer disease susceptibility. A previously unreported balanced t(9;17)(q33.2;q25.3) translocation was observed in two schizophrenia-affected members of a small family with diverse psychiatric disorders. The p...
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PMID: 21302349
PDF is available here.
PDF is available here.
Abstract
Mutation Research (711)1-2 2011
Abstract
We outline aspects of DSB induction by IR and review the mechanisms of their processing in cells of higher eukaryotes. We place particular emphasis on backup pathways of NHEJ and summarize their increasing significance in various cellular processes, as well as their potential contribution to carcino...
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PMID: 21329706
PDF is available here.
PDF is available here.
Abstract
We showed that the t(4;9)(q21;p24) leads to a novel SEC31A-JAK2 fusion. Screening of 131 cHL cases identified 1 additional case with SEC31A-JAK2 and 2 additional cases with rearrangements involving JAK2. We demonstrated that SEC31A-JAK2 is oncogenic in vitro and acts as a constitutively activated ty...
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PMID: 21325169
PDF is available here.
PDF is available here.
Scientific American (304)2 2011
Abstract
Abstract
The prognosis for relapsing or refractory neuroblastoma (NB) remains dismal, with a five-year disease-free survival of
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PMID: 21534345
PDF is available here.
PDF is available here.
Abstract
We report five cases of patients with a never-smoking adenocarcinoma of the lung with such a pattern of metastases. In the tumor cells of all five patients, epidermal growth factor receptor (EGFR) mutation gene sequencing identified a deletion in exon 19 of the EGFR gene, and all five patients had a...
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PMID: 21178715
PDF is available here.
PDF is available here.
Cytometry Part B (80)4 2011
Abstract
We attempted to identify flow cytometric and other markers predictive of a positive FISH test.
We examined 100 atypical CLL/MCL cases for demographic, hematological, and cytometric variables, 96 were FISH tested for t(11;14) and four were known MCL.
Twenty-two cases w...
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PMID: 21462308
PDF is available here.
PDF is available here.
Abstract
We describe 2 children with dysmorphic features, and severe developmental delay presenting with overlapping unbalanced translocations of 9q34.3 and 16p13. Patient #1: A 4 year old African-American female with normal karyotype with a pericentric inversion on one chromosome 9 known to be a benign vari...
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PMID: 21144914
PDF is available here.
PDF is available here.
Abstract
We report a case of t-ALL with t(11;19)(q23;p13.3) and MLL-MLLT1 (alias ENL) gene rearrangement confirmed by cytogenetic analysis, multiplex reverse transcription-PCR (multiplex RT-PCR), and DNA sequencing in a patient who had undergone treatment for breast cancer. A 40-yr-old woman developed acute...
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PMID: 21239865
PDF is available here.
PDF is available here.
Abstract
Adenoid cystic carcinoma is a locally aggressive salivary gland neoplasm, which has a poor long-term prognosis. A chromosomal translocation involving the genes encoding the transcription factors, MYB and NFIB, has been recently discovered in these tumors.
MYB translocation and protein expression wer...
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PMID: 21164292
PDF is available here.
PDF is available here.
Abstract
We discuss possible mechanisms of deregulation and the significance of pericentriolar material 1 (PCM)1-JAK2 fusion/t(8;9)(p21-23;p23-24) in hematolymphoid neoplasms. Such cases show morphological (myeloproliferaton, eosinophilia, myelofibrosis) and clinical (striking male predominance, aggressive c...
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PMID: 21091042
PDF is available here.
PDF is available here.
Cytogenetic and Genome Research (132)1-2 2011
Abstract
Cytogenetic evaluation of young bulls of the Polish Holstein-Friesian breed, tested before approving for use in artificial insemination, revealed a carrier of a Y-autosome reciprocal translocation. The applied chromosome banding techniques and fluorescence in situ hybridization (FISH), with the use...
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PMID: 20664244
PDF is available here.
PDF is available here.
Abstract
I and III in the species B. cenocepacia is found to be responsible for the unusual distribution of essential genes. The present work may contribute to the understanding of how the secondary chromosomes of multipartite bacterial genomes originate and evolve. The computer program, DEG_match, for compa...
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PMID: 21078295
PDF is available here.
PDF is available here.
Abstract
We found RAG-dependent recombination in the regions dense in breakpoints within TEL and AML1 gene loci related to acute lymphoid leukemia-associated t(12;21)(p13;q22) chromosomal translocation. Sequence analyses revealed several heptamer-like sequences located in the vicinity of RAG-dependent recomb...
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PMID: 21029724
PDF is available here.
PDF is available here.
Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui = Journal of experimental hematology / Chinese Association of Pathophysiology (18)6 2010
Abstract
Multiple myeloma (MM) is a neoplasm of a terminally differentiated B-cell. Human myeloma cell lines were shown to be suitable model systems for use in various fields of the biological sciences. This study was aimed to investigate the genetic aberrations in human multiple myeloma cell lines. Interphas...
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PMID: 21176360
PDF is available here.
PDF is available here.
Bulletin du cancer (97)11 2010
Abstract
The high heterogeneity of clinical, histological, biological and genetic features in breast cancer is due in part to the extreme molecular complexity of these tumors. This review article presents the major technological advances of the past ten years, in particular the development of microarray appr...
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PMID: 21051317
PDF is available here.
PDF is available here.
Bulletin du cancer (97)11 2010
Abstract
Numerous molecular abnormalities have been described in lymphomas. They are of diagnostic and prognostic value and are taken into account for the WHO classification of these tumors. They also shed some light on the underlying molecular mechanisms involved in lymphomas. Overall, four types of molecul...
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PMID: 21084243
PDF is available here.
PDF is available here.
Bulletin du cancer (97)11 2010
Abstract
Sarcomas represent a heterogeneous group of tumors with a complex and poorly reproducible classification. However, in the last ten years, several specific genetic alterations have been described allowing a molecular classification with: 1) sarcomas with a specific translocation which can be used as...
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PMID: 21084242
PDF is available here.
PDF is available here.
Abstract
We have investigated the chromosomal alterations of MYC, BCL2, BCL6, MALT1, PAX5, and IGH loci using fluorescence in situ hybridization in 42 PBL and 3 extracavitary primary effusion lymphomas. MYC rearrangements were identified in 20 of 41 (49%) PBL and the immunoglobulin (IG) genes were the partne...
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PMID: 20962620
PDF is available here.
PDF is available here.
Abstract
We report a case of a 42-year-old female with a soft tissue tumor of the ankle showing hybrid morphologic features of myxoinflammatory fibroblastic sarcoma and hemosiderotic fibrolipomatous tumor, a der(10)t(1;10), and abnormalities of chromosome 3. This hybrid lesion provides further evidence for a...
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PMID: 20871391
PDF is available here.
PDF is available here.
Abstract
Abstract
I report on an additional case of a male fetus with a mosaic male karyotype mos 46,X,der(Y)t(Y;1)(q12;q21)[31]/46,XY[21] and multiple anomalies that included "teardrop"-shaped head with a triangular face, a short-nasal bridge with upturned nose, microretrognathia, microtia, kyphoscoliosis, oligodact...
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PMID: 20684010
PDF is available here.
PDF is available here.
Abstract
Chromosomal translocations and inversions are present in ∼0.6-1% of individuals. Although the majority are inherited, and the familial transmission across generations is well reported, reports of homozygosity are relatively rare, with most data in the form of individual case reports. A systematic...
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PMID: 20574425
PDF is available here.
PDF is available here.
Genetika (Moskva) (46)9 2010
Abstract
Our data support the hypothesis that the formation of monobrachial homologous metacentric chromosomes can be considered as a way of chromosomal speciation....
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PMID: 21061637
PDF is available here.
PDF is available here.
Genetika (Moskva) (46)9 2010
Abstract
Karyotypes uncharacteristic of pure races or hybrids were identified in the interracial hybrid zones of the common shrew Sorex araneus L. that were recently discovered in the European part of Russia. This suggests the actual existence in natural populations of WART-like rearrangements (whole-arm rec...
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PMID: 21061632
PDF is available here.
PDF is available here.
Chromosome Research (18)6 2010
Abstract
We analyzed the meiotic behavior of the sex chromosomes of the bats Glossophaga soricina (XX/XY), Artibeus cinereus and Uroderma magnirostrum (neo-XX/XY) using multicolor FISH. The X chromosome and pair 15 autosome probes are from Phyllostomus hastatus and the Y from Carollia brevicauda. On both spe...
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PMID: 20635197
PDF is available here.
PDF is available here.
Abstract
We examined adenocarcinomas, prostatic intraepithelial neoplasia (PIN), and normal epithelium of the prostate retrieved from radical prostatectomy specimens to determine the frequency, specificity, tissue heterogeneity, and prognostic value of TMPRSS2 genetic alterations using a direct-labeled TMPRS...
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PMID: 20736744
PDF is available here.
PDF is available here.
Abstract
We have showed that there is neither t(14;18)/IGH-BCL2 nor IGH gene rearrangement in 4 de novo IDCS without a concurrent or known history of a B-cell lymphoma, including follicular lymphoma, indicating that BCL2 chromosomal translocation is not a general feature of de novo IDCS....
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PMID: 20736747
PDF is available here.
PDF is available here.
Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit (16)9 2010
Abstract
This cases series describes the profile of adult patients with acute promyelocytic leukaemia (APt) at a referral hospital in Qatar. Of 34 acute myeloid leukaemia (AML) cases diagnosed, 11(32%) were classified as APt. Disseminated intravascular coagulation was common at presentation (91%). Severe thr...
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PMID: 21218723
PDF is available here.
PDF is available here.
Abstract
We here demonstrate that cell lines and a primary sample of t(17;19)-ALL expressed LMO2 at significantly higher levels than other B-precursor ALLs did. Transfection of E2A-HLF into a non-t(17;19) B-precursor ALL cell line induced LMO2 gene expression that was dependent on the DNA-binding and transac...
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PMID: 20519628
PDF is available here.
PDF is available here.
Abstract
Genomes are organized into complex higher-order structures by folding of the DNA into chromatin fibers, chromosome domains, and ultimately chromosomes. The higher-order organization of genomes is functionally important for gene regulation and control of gene expression programs. Defe...
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PMID: 20591991
PDF is available here.
PDF is available here.
Discovery medicine (10)51 2010
Abstract
There have been several publications recently that reported DNA sequence alterations in human tumors. There are gene deletions, amplifications, point mutations, translocations, and other genome changes in these samples compared to normal controls. There is also considerable variation...
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PMID: 20807475
PDF is available here.
PDF is available here.
Abstract
Down syndrome (DS) is the most common genetic reason for learning disability and congenital malformations in the human population, occurring with an incidence of 1 in 650-1000 newborns.
The aim of this study was to perform chromosome analysis in suspected DS cases wit...
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PMID: 20642367
PDF is available here.
PDF is available here.
Abstract
Robertsonian translocations are one of the most frequent reorganizations in humans. Their segregational behavior and their implication in the occurrence of interchromosomal effects (ICEs) has been an important topic of research for the past 10 years. Most of the cases analyzed correspond to rearrang...
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PMID: 20555339
PDF is available here.
PDF is available here.
Cancer Letters (294)1 2010
Abstract
We wished to determine if Annexin-1 (ANXA1) could mediate heat-induced growth arrest and DNA damage in MCF7 breast cancer cells. Heat induced a significant growth arrest at 4h-24h. Growth arrest and heat-induced DNA damage were significantly inhibited in MCF7 cells over-expressing ANXA1. These effec...
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PMID: 20163912
PDF is available here.
PDF is available here.
Cancer Letters (294)1 2010
Abstract
We show that EWS-Fli1 interacts with p53 within the nucleus in vivo. The introduction of EWS-Fli1 resulted in significant reduction of promoter activities and mRNA levels of p21 and mdm2, meanwhile it canceled p53-dependent growth suppression. In contrast, knockdown of EWS-Fli1 expression mediated b...
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PMID: 20153576
PDF is available here.
PDF is available here.
Abstract
Abstract
Cancer Research (70)14 2010
Abstract
We report that impairment in p27 IRES-mediated translation due to decreased levels of DKC1 activity markedly increases spontaneous pituitary tumorigenesis in p27 heterozygous mice. Using a new bioluminescent mouse model, we monitored p27 translation in vivo and show that p27 IRES-mediated translatio...
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PMID: 20587522
PDF is available here.
PDF is available here.
Abstract
We describe the case of a 52-year-old woman who was admitted to our hospital for the local excision of a 4cm vulvar mass, originally thought to be a Bartholin's gland cyst. It was subsequently found to consist of small round cells positive for anti-CD99 antibody, thus suggesting a diagnosis of ES/pP...
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PMID: 19656640
PDF is available here.
PDF is available here.
Abstract
We present a clinical, cytogenetic, FISH, and array CGH study of a family with an Xp;Yq translocation. The chromosomal status is also discussed in the light of their phenotypic traits. The final karyotypes of the patients were designated as: Patient 1: 46,Y,der(X),t(X;Y)(p22;q12).ish der(X)(Xpter-,D...
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PMID: 20578256
PDF is available here.
PDF is available here.
Abstract
We obtained abundant translocation lines that possessed whole-arm, terminal, segmental and intercalary translocations. Three 6PS-specific and four 6PL-specific markers will be useful to rapidly identify and trace the translocated fragments. The different wheat-A. cristatum 6P translocation lines obt...
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PMID: 20490543
PDF is available here.
PDF is available here.
Abstract
We obtained abundant translocation lines that possessed whole-arm, terminal, segmental and intercalary translocations. Three 6PS-specific and four 6PL-specific markers will be useful to rapidly identify and trace the translocated fragments. The different wheat-A. cristatum 6P translocation lines obt...
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PMID: 20490543
PDF is available here.
PDF is available here.
Abstract
We obtained abundant translocation lines that possessed whole-arm, terminal, segmental and intercalary translocations. Three 6PS-specific and four 6PL-specific markers will be useful to rapidly identify and trace the translocated fragments. The different wheat-A. cristatum 6P translocation lines obt...
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PMID: 20490543
PDF is available here.
PDF is available here.
Abstract
We obtained abundant translocation lines that possessed whole-arm, terminal, segmental and intercalary translocations. Three 6PS-specific and four 6PL-specific markers will be useful to rapidly identify and trace the translocated fragments. The different wheat-A. cristatum 6P translocation lines obt...
|
PMID: 20490543
PDF is available here.
PDF is available here.
Abstract
We obtained abundant translocation lines that possessed whole-arm, terminal, segmental and intercalary translocations. Three 6PS-specific and four 6PL-specific markers will be useful to rapidly identify and trace the translocated fragments. The different wheat-A. cristatum 6P translocation lines obt...
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PMID: 20490543
PDF is available here.
PDF is available here.