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Results: 1 to 10 of 47

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Genomic Instability Associated with p53 Knockdown in the Generation of Huntington's Disease Human Induced Pluripotent Stem Cells.
Tidball AM, Neely MD, Chamberlin R, Aboud AA, Kumar KK, Han B, Bryan MR, Aschner M, Ess KC, Bowman AB
(2016) PLoS One 11: e0150372
MeSH Terms: Adult, Aged, Cells, Cultured, DNA Damage, Gene Knockdown Techniques, Genomic Instability, Humans, Huntington Disease, Induced Pluripotent Stem Cells, Karyotyping, Middle Aged, Nucleic Acid Synthesis Inhibitors, Signal Transduction, Tumor Suppressor Protein p53, Young Adult, Zinostatin
Show Abstract · Added August 18, 2016
Alterations in DNA damage response and repair have been observed in Huntington's disease (HD). We generated induced pluripotent stem cells (iPSC) from primary dermal fibroblasts of 5 patients with HD and 5 control subjects. A significant fraction of the HD iPSC lines had genomic abnormalities as assessed by karyotype analysis, while none of our control lines had detectable genomic abnormalities. We demonstrate a statistically significant increase in genomic instability in HD cells during reprogramming. We also report a significant association with repeat length and severity of this instability. Our karyotypically normal HD iPSCs also have elevated ATM-p53 signaling as shown by elevated levels of phosphorylated p53 and H2AX, indicating either elevated DNA damage or hypersensitive DNA damage signaling in HD iPSCs. Thus, increased DNA damage responses in the HD genotype is coincidental with the observed chromosomal aberrations. We conclude that the disease causing mutation in HD increases the propensity of chromosomal instability relative to control fibroblasts specifically during reprogramming to a pluripotent state by a commonly used episomal-based method that includes p53 knockdown.
0 Communities
2 Members
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16 MeSH Terms
Metastatic Merkel cell carcinoma in the bone marrow of a patient with plasma cell myeloma and therapy-related myelodysplastic syndrome.
Kressin MK, Kim AS
(2012) Int J Clin Exp Pathol 5: 1007-12
MeSH Terms: Adult, Aged, Antineoplastic Agents, Biomarkers, Tumor, Biopsy, Bone Marrow Examination, Bone Marrow Neoplasms, Carcinoma, Merkel Cell, Fatal Outcome, Female, Humans, Immunohistochemistry, In Situ Hybridization, Fluorescence, Karyotyping, Male, Middle Aged, Multiple Myeloma, Myelodysplastic Syndromes, Neoplasms, Second Primary, Peripheral Blood Stem Cell Transplantation, Skin Neoplasms
Show Abstract · Added May 28, 2014
Merkel cell carcinoma is an aggressive neoplasm of the skin that shows frequent lymph node metastases, but has only rarely been reported in the bone marrow. Herein we report a case of a 64-year-old male with a history of plasma cell myeloma and recent skin diagnosis of Merkel cell carcinoma who presented for a routine follow-up bone marrow to assess his myeloma. The biopsy showed persistent plasma cell myeloma, trilineage dysplasia, and clusters of neuroendocrine cells consistent with metastatic Merkel cell carcinoma. Discussion of this case, a review of metastatic Merkel cell carcinoma, and identification of clinical settings in which staging bone marrow biopsy may be warranted are presented.
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1 Members
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21 MeSH Terms
Genomic imbalances in benign metastasizing leiomyoma: characterization by conventional karyotypic, fluorescence in situ hybridization, and whole genome SNP array analysis.
Bowen JM, Cates JM, Kash S, Itani D, Gonzalez A, Huang D, Oliveira A, Bridge JA
(2012) Cancer Genet 205: 249-54
MeSH Terms: Chromosome Deletion, Chromosomes, Human, Pair 7, Female, Gene Rearrangement, Humans, In Situ Hybridization, Fluorescence, Karyotyping, Leiomyoma, Lung Neoplasms, Middle Aged, Muscle Neoplasms, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, Thigh, Uterine Neoplasms
Show Abstract · Added March 15, 2013
Benign metastasizing leiomyoma, a rare condition of controversial origin, is characterized by the occurrence of extrauterine smooth muscle tumors primarily affecting the lungs of women with a history of uterine leiomyomas. Numerous genetic studies of uterine leiomyoma with rearrangements of the HMGA2 and HMGA1 loci defined in prominent subgroups have been conducted. In contrast, cytogenetic and molecular descriptions of benign metastasizing leiomyoma are few, and, in particular, this entity has not been previously subjected to single nucleotide polymorphism (SNP) array analysis. In this study, conventional karyotypic, and/or molecular cytogenetic, and SNP array characterization of a pleuropulmonary benign mestasizing leiomyoma and a synchronous deep soft tissue leiomyoma of the thigh, which arose in a 56-year-old female with a remote history of uterine leiomyomata, revealed rearrangement of the HMGA1 (6p21) locus and nearly identical genomic profiles, including loss of chromosome 7 material in both lesions. These findings suggest that both the deep soft tissue and pleuropulmonary lesions were derived from the same abnormal clone and are genetically related to uterine leiomyomata.
Copyright © 2012 Elsevier Inc. All rights reserved.
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15 MeSH Terms
Systematic screen for tyrosine kinase rearrangements identifies a novel C6orf204-PDGFRB fusion in a patient with recurrent T-ALL and an associated myeloproliferative neoplasm.
Chmielecki J, Peifer M, Viale A, Hutchinson K, Giltnane J, Socci ND, Hollis CJ, Dean RS, Yenamandra A, Jagasia M, Kim AS, Davé UP, Thomas RK, Pao W
(2012) Genes Chromosomes Cancer 51: 54-65
MeSH Terms: Adult, Algorithms, Amino Acid Sequence, Base Sequence, Cell Line, Tumor, Computational Biology, Cytoskeletal Proteins, Gene Order, HEK293 Cells, Humans, K562 Cells, Karyotyping, Male, Molecular Sequence Data, Myeloproliferative Disorders, Oncogene Proteins, Fusion, Precursor T-Cell Lymphoblastic Leukemia-Lymphoma, Protein-Tyrosine Kinases, Sequence Alignment, Sequence Analysis, DNA, Translocation, Genetic
Show Abstract · Added September 3, 2013
Gene fusions involving the catalytic domain of tyrosine kinases (TKs) are found in a variety of hematological and solid tumor malignancies. Clinically, TK fusions have emerged as prime targets for therapy with small molecule kinase inhibitors. Unfortunately, identification of TK fusions has been hampered by experimental limitations. Here, we developed version 2.0 of a genomically based systematic kinase fusion screen and used it to detect a novel imatinib-sensitive C6orf204-PDGFRB fusion in a patient with precursor T lymphoblastic lymphoma (T-ALL) and an associated myeloproliferative neoplasm with eosinophilia. These data validate the ability of this targeted capture-sequencing approach to detect TK fusion events in small amounts of DNA extracted directly from patient samples.
Copyright © 2011 Wiley Periodicals, Inc.
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4 Members
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21 MeSH Terms
Primary congenital glaucoma associated with Patau syndrome with long survival.
Jaru-Ampornpan P, Kuchtey J, Dev VG, Kuchtey R
(2010) J Pediatr Ophthalmol Strabismus 47 Online: e1-4
MeSH Terms: Child, Chromosome Disorders, Chromosomes, Human, Pair 13, Cornea, Eye Abnormalities, Female, Humans, Hydrophthalmos, Intraocular Pressure, Karyotyping, Survivors, Tonometry, Ocular, Trabeculectomy, Trisomy, Trisomy 13 Syndrome
Show Abstract · Added February 19, 2015
Ocular abnormalities are common in Patau syndrome (trisomy 13), but only a few cases with congenital glaucoma have been reported, some of which were associated with other ocular defects. This report describes a case of primary congenital glaucoma in an 11-year-old patient with full trisomy 13.
Copyright 2010, SLACK Incorporated.
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1 Members
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15 MeSH Terms
Kinase expression and chromosomal rearrangements in papillary thyroid cancer tissues: investigations at the molecular and microscopic levels.
Weier HU, Kwan J, Lu CM, Ito Y, Wang M, Baumgartner A, Hayward SW, Weier JF, Zitzelsberger HF
(2009) J Physiol Pharmacol 60 Suppl 4: 47-55
MeSH Terms: Animals, Carcinoma, Papillary, Cell Line, Cell Transplantation, Chernobyl Nuclear Accident, Chromosome Aberrations, Chromosomes, Chromosomes, Artificial, Bacterial, Cloning, Molecular, DNA Probes, Flow Cytometry, Humans, Image Processing, Computer-Assisted, Karyotyping, Mice, Protein Kinases, Receptor Protein-Tyrosine Kinases, Receptor, trkA, Reverse Transcriptase Polymerase Chain Reaction, Thyroid Neoplasms, Translocation, Genetic
Show Abstract · Added May 27, 2014
Structural chromosome aberrations are known hallmarks of many solid tumors. In the papillary form of thyroid cancer (PTC), for example, activation of the receptor tyrosine kinase (RTK) genes, ret or the neurotrophic tyrosine kinase receptor type I (NTRK1) by intra- or interchromosomal rearrangements have been suggested as a cause of the disease. The 1986 accident at the nuclear power plant in Chernobyl, Ukraine, led to the uncontrolled release of high levels of radioisotopes. Ten years later, the incidence of childhood papillary thyroid cancer (chPTC) near Chernobyl had risen by two orders of magnitude. Tumors removed from some of these patients showed aberrant expression of the ret RTK gene due to a ret/PTC1 or ret/PTC3 rearrangement involving chromosome 10. However, many cultured chPTC cells show a normal G-banded karyotype and no ret rearrangement. We hypothesize that the "ret-negative" tumors inappropriately express a different oncogene or have lost function of a tumor suppressor as a result of chromosomal rearrangements, and decided to apply molecular and cytogenetic methods to search for potentially oncogenic chromosomal rearrangements in Chernobyl chPTC cases. Knowledge of the kind of genetic alterations may facilitate the early detection and staging of chPTC as well as provide guidance for therapeutic intervention.
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1 Members
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21 MeSH Terms
Osteoblastoma characterized by a three-way translocation: report of a case and review of the literature.
Giannico G, Holt GE, Homlar KC, Johnson J, Pinnt J, Bridge JA
(2009) Cancer Genet Cytogenet 195: 168-71
MeSH Terms: Adult, Bone Neoplasms, Chromosomes, Human, Pair 14, Chromosomes, Human, Pair 2, Female, Humans, Karyotyping, Magnetic Resonance Imaging, Osteoblastoma, Translocation, Genetic
Show Abstract · Added February 19, 2015
Osteoblastoma, an uncommon primary bone tumor, produces both osteoid and primitive woven bone in a background of fibrovascular connective tissue. Although most osteoblastomas are considered benign, a controversial aggressive variant has been described, which may cause diagnostic confusion with malignant tumors such as osteosarcoma. To date, no specific diagnostic cytogenetic or molecular marker has been identified for osteoblastoma to aid in its distinction. Conventional cytogenetic analysis of an osteoblastoma arising in the femur of a 23-year-old woman revealed a novel three-way translocation involving chromosomes 1, 2 and 14 [t(1;2;14) (q42;q13;q24)]. Rearrangement of 1q42 has been identified in a previously reported case.
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10 MeSH Terms
Fine mapping and association studies in a candidate region for autism on chromosome 2q31-q32.
Conroy J, Cochrane L, Anney RJ, Sutcliffe JS, Carthy P, Dunlop A, Mullarkey M, O'hici B, Green AJ, Ennis S, Gill M, Gallagher L
(2009) Am J Med Genet B Neuropsychiatr Genet 150B: 535-44
MeSH Terms: Alleles, Autistic Disorder, Chromosome Mapping, Chromosomes, Human, Pair 2, Female, Genetic Predisposition to Disease, Haplotypes, Humans, Integrin alpha4, Karyotyping, Male, Microsatellite Repeats, Mutation, Pedigree, Polymorphism, Single Nucleotide
Show Abstract · Added February 20, 2014
Autism (OMIM %209850) is a neurodevelopmental disorder with a strong genetic component. We previously reported a de novo rearrangement of chromosome 2q31 in a patient with autism [Gallagher et al. (2003); J Autism Dev Disord 33(1):105-108]. Further cytogenetic analysis revealed this to be a 46,XY, t(9;2)(q31.1;q32.2q31.3) translocation. Association mapping with microsatellite and SNP markers of this translocated region on 2q revealed association with markers in Integrin alpha-4 (ITGA4; GeneID 3676). ITGA4 was tested for association in a sample of 179 trio-based families. SNP markers in exons 16 and 17 showed evidence of association. Mutation screening revealed a G to A synonymous variation in the last nucleotide of exon 16 (rs12690517), significantly associated with autism in the Irish sample (OR = 1.6; P = 0.04). The location of this SNP at a putative splice donor site may affect the splicing of the ITGA4 protein. Haplotype analysis showed significant overtransmission of haplotypes surrounding this marker. These markers were investigated in two additional samples, 102 families from Vanderbilt University (VT) (n = 102), and AGRE (n = 267). A non-significant trend towards overtransmission of the associated allele of rs12690517 in the Irish sample (OR = 1.2; P = 0.067) and haplotypes at the 3' end of ITGA4 was observed in the AGRE sample. The VT sample showed association with markers and haplotypes across the gene, but no association with the rs12690517 marker or its surrounding haplotypes. The combined sample showed evidence of association with rs12690517 (OR = 1.3; P = 0.008) and surrounding haplotypes. The findings indicate some evidence for the role of ITGA4 as candidate gene for autism.
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15 MeSH Terms
Expression of Keratin 8 and TNF-Related Apoptosis-I Inducing Ligand (TRAIL) in Down Syndrome Placentas.
Klugman SD, Gross SJ, Liang J, Livne K, Gross B, Khabele D, Lopez-Jones M, Cordero DR, Reznik S
(2008) Placenta 29: 382-4
MeSH Terms: Blotting, Northern, Cell Membrane, Down Syndrome, Female, GPI-Linked Proteins, Gene Expression Profiling, Humans, Immunohistochemistry, Karyotyping, Keratin-8, Placenta, Pregnancy, Receptors, TNF-Related Apoptosis-Inducing Ligand, Receptors, Tumor Necrosis Factor, Receptors, Tumor Necrosis Factor, Member 10c, TNF-Related Apoptosis-Inducing Ligand, Trophoblasts, Tumor Necrosis Factor Decoy Receptors, Tumor Necrosis Factor-alpha
Added March 5, 2014
0 Communities
1 Members
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19 MeSH Terms
A novel method for gene expression mapping of metastatic competence in human bladder cancer.
Wu Z, Siadaty MS, Riddick G, Frierson HF, Lee JK, Golden W, Knuutila S, Hampton GM, El-Rifai W, Theodorescu D
(2006) Neoplasia 8: 181-9
MeSH Terms: Algorithms, Aneuploidy, Animals, Carcinoma, Transitional Cell, Chromosome Aberrations, Chromosome Mapping, Chromosomes, Human, DNA, Neoplasm, Disease Progression, Gene Expression Profiling, Gene Expression Regulation, Neoplastic, Humans, Karyotyping, Lung Neoplasms, Mice, Mice, Nude, Neoplasm Proteins, Neoplasm Transplantation, Nucleic Acid Hybridization, Oligonucleotide Array Sequence Analysis, Proportional Hazards Models, Transplantation, Heterologous, Urinary Bladder Neoplasms
Show Abstract · Added March 5, 2014
Expression profiling by DNA microarray analysis has provided insights into molecular alterations that underpin cancer progression and metastasis. Although differential expression of microarray-defined probes can be related to numerical or structural chromosomal alterations, it is unclear if such changes are also clustered in distinct chromosomes or genomic regions and whether chromosomal alterations always reflect changes in gene expression. Here we apply the dChip algorithm and a novel technique to test the hypothesis that expression changes occurring as a function of tumor progression and metastasis are nonrandomly distributed. Expression profiling of a human xenograft model of lung metastasis phenotype indicates that chromosomes 2, 11, and 20 contain higher percentages of differentially expressed genes (P < .05). Furthermore, we show that a number of differentially expressed probes mapped to chromosome 17q, defining the existence of an expression "hot spot" corresponding to an area of gain determined by comparative genomic hybridization (CGH). Interestingly, other areas of gains detected by CGH were not associated with expression hot spots. In summary, we show that gene expression changes during bladder cancer lung metastasis occur nonrandomly in specific chromosomes and intrachromosomal locations.
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23 MeSH Terms