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Bonfiglio S - - 2012
A new sequence-tagged site (STS) was identified within intron 26 of the bovine USP9Y gene, showing an 81-base pair insertion (g.76439_76440ins81 in sequence with GenBank accession FJ195366) able to distinguish Y2 and Y3 Bos Y haplogroups from Y1. Moreover, four Y3-specific sequence variants allow a distinction from haplogroup Y2. The ...
Walen Kirsten H - - 2012
Endotetraploidy with 4-chromatid chromosomes divides by a bipolar, 2-step meiotic-like division back to diploidy (subcells), which is chiefly achieved by co-segregation of whole genomes uncoupled from spindle participation. This study shows diploid subcell inheritance of endopolyploid-division traits: perpendicular division relative to the cytoskeleton axis, dysfunctional centromere/kinetochore regions and whole genomic ...
Yang Xiaohong R - - 2012
Copy number variations (CNVs) have been shown to contribute substantially to disease susceptibility in several inherited diseases including cancer. We conducted a genome-wide search for CNVs in blood-derived DNA from 79 individuals (62 melanoma patients and 17 spouse controls) of 30 high-risk melanoma-prone families without known segregating mutations using genome-wide ...
Aguirre-Portolés Cristina C Cell Division and Cancer Group, Spanish National Cancer Research Center, Madrid, - - 2012
Tpx2 is a microtubule-associated protein that activates the cell-cycle kinase Aurora A and regulates the mitotic spindle. Overexpression of Tpx2 is associated with the development of different human tumors and strongly correlates with chromosomal instability. By analyzing a conditional null mutation in the mouse Tpx2 gene, we show here that ...
Fasulo Barbara - - 2012
Defects in DNA replication and chromosome condensation are common phenotypes in cancer cells. A link between replication and condensation has been established, but little is known about the role of checkpoints in monitoring chromosome condensation. We investigate this function by live analysis, using the rapid division cycles in the early ...
Choi Sung Hugh SH Department of Microbiology and Physiological Systems and Program in Cell Dynamics, University of Massachusetts Medical School, Worcester, MA 01605, - - 2012
During mitosis, equal segregation of chromosomes depends on proper kinetochore-microtubule attachments. Merotelic kinetochore orientation, in which a single kinetochore binds microtubules from both spindle poles [1], is a major cause of chromosome instability [2], which is commonly observed in solid tumors [3, 4]. Using the fission yeast Schizosaccharomyces pombe, we ...
Kroeger Nils - - 2012
BACKGROUND: While it is well known that clear cell renal cell carcinoma (ccRCC) that presents with lymphatic spread is associated with an extremely poor prognosis, its molecular and genetic biology is poorly understood. OBJECTIVE: Define the clinicopathologic, molecular, and genetic biological characteristics of these tumors in comparison to nonmetastatic (N0M0) ...
Hysolli Eriona - - 2012
X-chromosome inactivation (XCI) is an important mechanism employed by mammalian XX female cells to level X-linked gene expression with that of male XY cells. XCI occurs early in development as the pluripotent cells of the inner cell mass (ICM) in blastocysts successively differentiate into cells of all three germ layers. ...
Coschi Courtney H - - 2012
The concept that aneuploidy is a characteristic of malignant cells has long been known; however, the idea that aneuploidy is an active contributor to tumorigenesis, as opposed to being an associated phenotype, is more recent in its evolution. At the same time, we are seeing the emergence of novel roles ...
Matsuura Shinobu S Moores UCSD Cancer Center, University of California, San Diego, La Jolla, CA 92093, - - 2012
The t(8;21)(q22;q22) is common in adult acute myeloid leukemia (AML). The RUNX1-ETO fusion protein that is expressed by this translocation is poorly leukemogenic and requires additional mutations for transformation. Loss of sex chromosome (LOS) is frequently observed in t(8;21) AML. In the present study, to evaluate whether LOS cooperates with ...
Tomlinson Gail E - - 2012
The cytogenetics of hepatoblastoma demonstrate recurring events which include whole chromosome trisomies, most commonly trisomy of chromosome 2, 8, or 10. In addition, unbalanced translocations involving a breakpoint on the proximal short arm of chromosome 1 are observed which result in a duplication of the long arm of chromosome 1q. ...
Khan Sarah - - 2011
Chromosome 1 is the largest of all human chromosomes, containing 3141 genes. It is linked to 890 known genetic diseases including congenital hypothyroidism, hemochromatosis, and prostate cancer. Recognized deletion and duplication syndromes have been described. Deletions in the short arm (p) of the chromosome have been identified in tumors of ...
Joo Mee - - 2011
Granular cell astrocytoma is a rare infiltrative malignant glioma with prominent granular cell change. Granular cell astrocytomas are biologically aggressive compared with conventional infiltrating astrocytomas of similar grades, but their genetic alterations are poorly known. We report a case of glioblastoma arising in granular cell astrocytoma and its genetic and ...
Hégarat Nadia - - 2011
We established a conditional deletion of Aurora A kinase (AurA) in Cdk1 analogue-sensitive DT40 cells to analyze AurA knockout phenotypes after Cdk1 activation. In the absence of AurA, cells form bipolar spindles but fail to properly align their chromosomes and exit mitosis with segregation errors. The resulting daughter cells exhibit ...
Samoshkin Alexander - - 2011
Condensin complexes are essential for chromosome condensation and segregation in mitosis, while condensin dysfunction, among other pathways leading to chromosomal bridging in mitosis, may play a role in tumor genomic instability, including recently discovered chromotripsis. To characterize potential double-strand breaks specifically occurring in late anaphase, human chromosomes depleted of condensin ...
Bakhoum Samuel F SF Department of Biochemistry; The Norris Cotton Cancer Center, Dartmouth Medical School, Hanover, NH 03755, USA. - - 2011
The specific role of chromosomal instability (CIN) in tumorigenesis has been a matter of conjecture. In part, this is due to the challenge of directly observing chromosome mis-segregation events as well as the inability to distinguish the role of CIN, which consists of increased rates of chromosome mis-segregation, from that ...
Nakahashi-Oda Chigusa - - 2011
CD300a is a member of CD300 family molecules consisting of seven genes on human chromosome 17 and nine genes in mouse chromosome 11. CD300a has a long cytoplasmic region containing the consensus immunoreceptor tyrosine-based inhibitory motif (ITIM) sequence. Upon crosslinking with antibodies against CD300a, CD300a mediates an inhibitory signal in ...
López Cristina - - 2012
The analysis of chromosomal abnormalities provides significant prognostic information in patients with chronic lymphocytic leukaemia (CLL), a disease with a highly heterogeneous clinical course. Chromosomal abnormalities commonly found are trisomy 12, del(13)(q14), del(11)(q22-23), del(17)(p13) and del(6)(q21). Translocations are present in some patients and affect regions recurrently involved in CLL. This ...
Neben Kai - - 2011
In patients with Multiple Myeloma (MM), risk stratification by chromosomal abnormalities may enable a more rational selection of therapeutic approaches. Here we analyzed the prognostic value of 12 chromosomal abnormalities in a series of 354 MM patients treated within the HOVON-65/GMMG-HD4 trial. Because of the two-arm design of the study, ...
Tesser-Gamba Francine - - 2011
Osteosarcoma is a class of cancer originating from the bone, affecting mainly children and young adults. Cytogenetic studies showed the presence of rearrangements and recurrent gains in specific chromosomal regions, indicating the possible involvement of genes located in these regions during the pathogenesis of osteosarcoma. These studies investigated expression of ...
Padilla-Nash Hesed M - - 2012
Human carcinomas are defined by recurrent chromosomal aneuploidies, which result in a tissue-specific distribution of genomic imbalances. In order to develop models for these genome mutations and to determine their role in tumorigenesis, we generated 45 spontaneously transformed murine cell lines from normal epithelial cells derived from bladder, cervix, colon, ...
Kaneko Hiroto - - 2011
Aims:  De novo CD5-positive diffuse large B cell lymphoma (CD5+DLBL) is a subtype of DLBL with poor clinical outcome. To investigate the cytogenetic pathogenesis of CD5+DLBL, we analyzed the chromosomal findings of 18 patients with CD5+DLBL. Methods:  Tumor cells were cultured and metaphase was captured by colchicine exposure. Using trypsin-Giemsa ...
Sanhaji Mourad - - 2011
The inability to faithfully segregate chromosomes in mitosis results in chromosome instability, a hallmark of solid tumors. Disruption of microtubule dynamics contributes highly to mitotic chromosome instability. The kinesin-13 family is critical in the regulation of microtubule dynamics and the best characterized member of the family, the mitotic centromere-associated kinesin ...
Shin S Y - - 2011
Although most patients with peripheral T-cell lymphoma (PTCL) show clonal rearrangement of T-cell receptor genes, few PTCLs show recurrent chromosomal abnormalities. We describe here a rare chromosomal rearrangement, t(14;19)(q11.2;q13.3), in a Lennert's lymphoma, a variant of PTCL, not otherwise specified. Sequential fluorescence in situ hybridization assays showed that the breakpoint ...
Kroenlein Hannes - - 2011
Burkitt lymphoma and a subset of diffuse large B-cell lymphomas are characterized by chromosomal alterations affecting the MYC oncogene on 8q24. In most cases MYC is found juxtaposed to the immunoglobulin heavy chain (IGH) gene locus. Translocations to the immunoglobulin kappa (IGK) gene locus on 2p11 are observed in around ...
Barreau Olivia - - 2011
Purpose:Diagnosing malignancy of adrenocortical tumors (ACT) and predicting prognosis in carcinomas are often challenging. Transcriptome markers have recently emerged, providing promising clinical relevance and improved pathophysiological knowledge. Whether tumoral chromosomal alterations provide similar information is not known. The aim was to evaluate the diagnostic and prognostic value of chromosomal alterations ...
Kitada K - - 2011
Coamplification of multiple segments of chromosome 2, including an MYCN-bearing segment, was examined in 2 cancer cell lines, NCI-H69 (lung cancer) and IMR-32 (neuroblastoma). High-resolution array-CGH analysis revealed 13 and 6 highly amplified segments located at different sites in chromosome 2 in NCI-H69 and IMR-32, respectively. FISH analysis demonstrated that ...
Puda Ana - - 2011
Chronic myeloproliferative neoplasms (MPN) and myelodysplastic syndromes (MDS) have an inherent tendency to progress to acute myeloid leukemia (AML). Using high-resolution SNP microarrays, we studied a total of 517 MPN and MDS patients in different disease stages, including 77 AML cases with previous history of MPN (N = 46) or ...
Cheung K J - - 2011
Follicular lymphoma (FL) cases with a t(14;18)(q32;q21) and minimal or no additional karyotypic alterations, such as copy number gains and losses and/or chromosomal rearrangements, may exhibit pathologic features and a clinical behavior similar to those with more complex karyotypes. This study sought to investigate whether the copy-neutral loss of heterozygosity ...
Dondeti Vijay R VR Department of Medicine, Abramson Family Cancer Research Institute, Abramson Cancer Center, University of Pennsylvania, Philadelphia, Pennsylvania, - - 2012
Sporadic clear cell renal cell carcinoma (ccRCC), the most common type of adult kidney cancer, is often associated with genomic copy number aberrations on chromosomes 3p and 5q. Aberrations on chromosome 3p are associated with inactivation of the tumor suppressor gene von-Hippel Lindau (VHL), which activates the hypoxia-inducible factors HIF1α ...
Galvão Clarice F - - 2011
J Oral Pathol Med (2011) Although molecular alterations are reported in different types of odontogenic tumours, their pathogenesis remains to be established. Loss of heterozygosity (LOH) studies allow the identification of minimal regions of deletions of known or putative tumour suppressor genes, the losses of which may promote neoplastic growth. ...
Slee R B - - 2011
Many tumors exhibit elevated chromosome mis-segregation termed chromosome instability (CIN), which is likely to be a potent driver of tumor progression and drug resistance. Causes of CIN are poorly understood but probably include prior genome tetraploidization, centrosome amplification and mitotic checkpoint defects. This study identifies epigenetic alteration of the centromere ...
Li Xinmin - - 2011
Hypersensitivity to radiation exposure is a major challenge to radiotherapy in the treatment of cancer patients. Copy number variations (CNVs) are believed to identify genomic regions of functional significance for radiosensitivity (RS) but have yet to be systematically investigated. We used Affymetrix 6.0 SNP arrays to survey common CNVs in ...
Moseley Shawn C - - 2012
DXZ4 is an X-linked macrosatellite composed of 12-100 tandemly arranged 3-kb repeat units. In females, it adopts opposite chromatin arrangements at the two alleles in response to X-chromosome inactivation. In males and on the active X chromosome, it is packaged into heterochromatin, but on the inactive X chromosome (Xi), it ...
Diaz Perez Silvia V - - 2012
Human embryonic stem cells (hESCs) are pluripotent cell types derived from the inner cell mass of human blastocysts. Recent data indicate that the majority of established female XX hESC lines have undergone X chromosome inactivation (XCI) prior to differentiation, and XCI of hESCs can be either XIST-dependent (class II) or ...
Kolquist Kathryn A - - 2011
The myelodysplastic syndromes (MDS) are a heterogeneous group of clonal disorders characterized by ineffective hematopoiesis, cytopenias, and a risk of transformation to acute myeloid leukemia (AML). However, only approximately 50% of primary MDS patients show clonal cytogenetic aberrations. To determine whether high-resolution microarray analysis would reveal new or additional aberrations, ...
Alahmadi Hussein - - 2011
This article constitutes a mini-review of the pathology and genetics of meningiomas. Meningiomas are the most common primary intracranial tumors. They are usually durally based and are often found adjacent to venous sinuses and dural infoldings. The majority of these tumors are WHO grade I, although a minority is WHO ...
Eckardt Mark A - - 2011
Chronic myelogenous leukemia (CML) constitutes less than 5% of childhood leukemias. The authors describe a rare case of a 14-year-old boy who presented with CML in blast crisis. Unique to this patient was the evidence of both breakpoint cluster region-c-abl oncogene 1 (BCR-ABL1) fusions as well as an additional unbalanced ...
Ricke Robin M - - 2011
High expression of the mitotic kinase Bub1 is associated with a variety of human cancers and correlates with poor clinical prognosis, but whether Bub1 alone can drive tumorigenesis was unknown. We provided conclusive evidence that Bub1 has oncogenic properties by generating transgenic mice that overexpress Bub1 in a wide variety ...
Demirhan Osman O Department of Medical Biology and Genetics, Faculty of Medicine, Çukurova University, 01330 Balcalı, Adana, Turkey. - - 2011
Recent studies have suggested a direct contribution of nicotine--the addictive component of tobacco and tobacco smoke--to human carcinogenesis, and it remains the most common harmful substance to which pregnant women are exposed. Also, it has deleterious effects on the fetus. The sperm of smoking fathers and newborns of smoking mothers ...
Flicker Karin - - 2011
Hereditary and sporadic medullary thyroid carcinoma (MTC) are closely associated with RET proto-oncogene mutations. However, the role of additional changes in the tumor genomes remains unclear. Our objective was the identification of chromosomal regions involved in MTC tumorigenesis and to assess their significance by using MTC derived cell lines. We ...
Nemec Pavel - - 2011
Abstract Prognostic impact of chromosomal abnormalities was evaluated by cIg-FISH and by classical metaphase cytogenetics in acohort of 207 newly diagnosed multiple myeloma patients who were treated with high-dose therapy followed by autologous stem cell transplantation in the CMG2002 clinical trial.Incidence of chromosomal abnormalities detected by FISH was as follows: ...
Garcia-Quevedo L - - 2011
BACKGROUNDMost individuals with Klinefelter's syndrome (KS) are azoospermic but residual foci of spermatogenesis have been observed in some patients. However, no consistent predictive factors for testicular sperm extraction success have been established and mosaicism could be a factor to investigate. In this study, we have assessed the degree of mosaicism ...
Chen Qian - - 2011
Induced pluripotent stem (iPS) cells have greatly provoked people's interest due to their enormous potential of clinical applications. Increasing care is taken with the genetic safety of iPS cells. However, up to now, the chromosomal integrity of murine iPS (miPS) cells has been largely unknown. We have observed recurrent trisomy ...
Calado R T - - 2012
In cell and animal models, telomere erosion promotes chromosomal instability via breakage-fusion-bridge cycles, contributing to the early stages of tumorigenesis. However, evidence involving short telomeres in cancer development in humans is scarce, epidemiological and indirect. Here we directly implicate telomere shortening as a critical molecular event for malignant evolution in ...
Thompson Sarah L - - 2011
Most solid tumors are aneuploid, and many missegregate chromosomes at high rates in a phenomenon called chromosomal instability (CIN). CIN reflects the erosion of mitotic fidelity, and it correlates with poor patient prognosis and drug resistance. The most common mechanism causing CIN is the persistence of improper kinetochore-microtubule attachments called ...
Bodvarsdottir Sigridur K - - 2011
In the present study the possible involvement of telomeres in chromosomal instability of breast tumors and cell lines from BRCA2 mutation carriers was examined. Breast tumors from BRCA2 mutation carriers showed significantly higher frequency of chromosome end-to-end fusions (CEFs) than tumors from non-carriers despite normal telomere DNA content. Frequent CEFs ...
Kang Ji Un - - 2011
The lymph node metastatic (LNM) spread of tumor cells is a frequent event in the initial process of cancer dissemination and is a powerful independent prognostic indicator in gastric adenocarcinoma (GAC). High density genomic arrays were conducted to identify molecular markers associated with lymph node metastasis in GAC. In the ...
Dittmann Kathleen - - 2011
Chromosomal abnormalities, like deletions, amplifications, inversions or translocations, are recurrent features in haematological malignancies. However, the precise molecular breakpoints are frequently not determined. Here we describe a rapid analysis of genetic imbalances combining fine tiling comparative genomic hybridization (FT-CGH) and ligation-mediated PCR (LM-PCR). We clarified an inv(14)(q11q32) in a case ...
Ge J - - 2011
Objectives:  Ex vivo expansion is a feasible strategy, which may overcome limitation of the very low frequency of haematopoietic stem/progenitor cells, in umbilical cord blood (UCB). However, both quality of cells and safety of expanded population are critical issues to be addressed for their clinical application. Hence, in this study, ...
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