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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.
Chromosome Aberrations (11):
Recent article
Chromosome Aberrations
Abstract
We describe three patients from one Spanish family affected by this disease. All three cases underwent comprehensive clinical and neuropsychological examination, and were monitored for seven years. The results obtained in this study describe a) a significant loss of the intelligence quotient (IQ) an...
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PMID: 22059337
PDF is available here.
PDF is available here.
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Abstract
We compared maternal with villous genotypes and determined the ploidy of villous tissue. PDP FISH was performed on 13 complete moles, 13 partial moles, 13 nonmolar abortions, and an equivocal hydropic abortion. PDP FISH permitted definitive diagnosis of complete moles in five of 13 cases for which m...
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PMID: 21704275
PDF is available here.
PDF is available here.
New England Journal of Medicine (364)26 2011
Abstract
Mutation Research (713)1-2 2011
Abstract
We investigated the levels of oxidative stress markers [8-oxo-7,8-dihydro-2'-deoxyguanosine (8-oxodG), 15-F(2t)-isoprostane (15-F2t-IsoP), protein carbonyls] and cytogenetic parameters [genomic frequency of translocations (F(G)/100), percentage of aberrant cells (%AB.C.) and acentric fragments (ace)...
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PMID: 21684294
PDF is available here.
PDF is available here.
PLoS Genetics (7)6 2011
Abstract
We show that untimely activation of replication origins during the G1 phase is genotoxic and induces genomic instability in the budding yeast Saccharomyces cerevisiae. Our data indicate that cells preserve a low level of the initiation factor Sld2 to prevent untimely initiation during the normal cel...
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PMID: 21698130
PDF is available here.
PDF is available here.
PLoS Genetics (7)5 2011
Abstract
We found that introduction of Ty912, a previously identified Ty1 element, onto the non-essential terminal region of the left arm of chromosome V led to a 380-fold increase in the rate of accumulating GCRs in a wild-type strain. A survey of 48 different mutations identified those that either increase...
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PMID: 21637792
PDF is available here.
PDF is available here.
La Tunisie medicale (89)5 2011
Abstract
The study carried out made it possible to exclude linkage of all loci for 3 families, nevertheless the linkage of one family to the locus 1p21.1-p13.3 remains possible. Conclusion: The absence of linkage of 4 Algerian families with autosomal recessive mental retardation to 3 well known loci, confirm...
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PMID: 21557185
PDF is available here.
PDF is available here.
Abstract
To study the clinicopathologic features of urothelial hyperplastic lesion with an endophytic growth pattern and the role of immunohistochemistry and multitargeted fluorescence in situ hybridization (FISH) in the differential diagnosis.
Forty-one cases of urothelial le...
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PMID: 21756826
PDF is available here.
PDF is available here.
Clinical Cancer Research (17)12 2011
Abstract
We explore the types, topography, genesis, pathophysiological consequences and clinical implications of UPD....
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PMID: 21518781
PDF is available here.
PDF is available here.
Abstract
The impact of FMS-like tyrosine kinase 3 (FLT3) mutations and mutation burden among cytogenetic subgroups of patients with acute myeloid leukemia (AML) other than normal karyotype (NK) AML is unclear.
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PMID: 21523727
PDF is available here.
PDF is available here.
Abstract
We studied the biological and genetic characteristics of such cells in CRC cell lines and primary tumors. Three CRC cell lines were sorted in CD133 positive and negative fractions. The respective genetic aberration profiles were studied using array comparative genomic hybridization (aCGH) and expres...
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PMID: 21435437
PDF is available here.
PDF is available here.
Mutation Research (712)1-2 2011
Abstract
We present the phenotype of mouse embryonic stem (ES) cells mutated for FancB. We found FancB-mutant cells exhibited reduced cellular proliferation, hypersensitivity to the crosslinking agent mitomycin C (MMC), increased spontaneous and MMC-induced chromosomal abnormalities, reduced spontaneous sist...
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PMID: 21458466
PDF is available here.
PDF is available here.
Abstract
Abstract
We found disproportional sex-mismatched HCTs, suggesting probable underdetection of DCL in sex-matched HCTs. The latency between HCT and DCL ranged from 1 to 193 months (median, 24 months), in keeping with the literature. Analyzing our cases, pooled with reported cases, with survival models showed m...
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PMID: 21411775
PDF is available here.
PDF is available here.
Abstract
Our observations suggest a common genetic origin of BSCC and carcinosarcoma....
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PMID: 21411780
PDF is available here.
PDF is available here.
Abstract
Our study highlights the importance of chromosomal changes in tumor formation and progression. In addition, it suggests potential associations with gender specific differences in survival....
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PMID: 21424817
PDF is available here.
PDF is available here.
Abstract
Primary lymphomas of the breast are very rare (0.2-1.5% of breast malignancies) and the vast majority (95%) are of B-cell origin. Recently, 40 cases of clinically indolent anaplastic large-cell kinase (ALK)-negative, T-cell, anaplastic, non-Hodgkin lymphomas (T-ALCL) have been reported worldwide.
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PMID: 21425149
PDF is available here.
PDF is available here.
Abstract
This study demonstrated the value of an automated approach to the analysis of FISH slides, affording the benefit of high-throughput while providing the user with the necessary images and tools to quickly and accurately report a case. Cancer (Cancer Cytopathol) 2011;. © 2011 American Cancer Society....
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PMID: 21413160
PDF is available here.
PDF is available here.
Mutation Research (722)1 2011
Abstract
We have investigated the cyto- and genotoxic effects of single and multi-walled CNTs (SWCNTs, MWCNTs) and carbon black (CB) on the mouse macrophage cell line RAW 264.7. Specifically we have investigated inflammatory response, release of tumor necrosis factor-α (TNF-α), intracellular reactive oxyge...
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PMID: 21382506
PDF is available here.
PDF is available here.
Abstract
We present two cases of 5q- syndrome with a similar and unusual course of transformation to lymphoblastic leukemia while on Lenalidomide. These two patients achieved an initial response; however, later acquired a second cytogenetic abnormality, became refractory to treatment and evolved into acute l...
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PMID: 21487529
PDF is available here.
PDF is available here.
Abstract
We provide the first report of a child with t(8;21) AML, diagnosed with asymptomatic SM following four cycles of chemotherapy. Unlike most adults with SM/AML, she was not found to have a c-KIT (D816V) mutation. SM persisted in the bone marrow after completion of chemotherapy, and her AML relapsed 9...
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PMID: 21671435
PDF is available here.
PDF is available here.
Cancer Genetics (204)2 2011
Abstract
We describe the clinical, immunophenotypic, cytogenetic, fluorescence in situ hybridization, and molecular analyses for T cell receptor gene rearrangement in a 21-year-old man diagnosed with HSTCL. Immunophenotypic analysis revealed negativity for CD5 as well as double negativity for CD4/CD8 mature...
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PMID: 21504708
PDF is available here.
PDF is available here.
Abstract
Abstract
We identify a mechanism in which EZH2 expression-mediated downregulation of DNA damage repair leads to accumulation of recurrent RAF1 gene amplification in BTICs, which activates p-ERK-β-catenin signaling to promote BTIC expansion. We further reveal that AZD6244, a clinical trial drug that inhibits...
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PMID: 21215703
PDF is available here.
PDF is available here.
Abstract
We characterize a phenomenon, which we term chromothripsis, whereby tens to hundreds of genomic rearrangements occur in a one-off cellular crisis. Rearrangements involving one or a few chromosomes crisscross back and forth across involved regions, generating frequent oscillations between two copy nu...
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PMID: 21215367
PDF is available here.
PDF is available here.
Abstract
We analyzed Kras mutation and Kras copy number in 172 Japanese non-small cell lung cancer (NSCLC) cases and their relation to the survival of patients. We also studied using fluorescence in situ hybridization to provide direct evidence of Kras amplification in 40 clinical specimens....
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PMID: 21150464
PDF is available here.
PDF is available here.
Abstract
We used high-density 500 K single nucleotide polymorphism (SNP)-arrays to define those chromosomal regions which most commonly harbour copy number (CN) alterations and loss of heterozygozity (LOH) in a series of 20 PDAC tumors and we correlated the corresponding genetic profiles with the most releva...
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PMID: 21811587
PDF is available here.
PDF is available here.
Abstract
Our results indicated that subchromosomal region of 7q21.3 was amplified in HCC, and SGCE, PEG10 and DYNC1I1 were probable protooncogenes located within the 7q21.3 locus....
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PMID: 21767414
PDF is available here.
PDF is available here.
Abstract
We describe and review the cytogenetic findings in peripheral lymphocytes from ALL survivors, and discuss aspects associated to the occurrence of increased chromosome rearrangements in this growing cohort....
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PMID: 20871850
PDF is available here.
PDF is available here.
Abstract
We report a 4 year old boy in whom the clinical features of craniosynostosis and bilateral absent thumbs and radii led to a diagnosis of Baller-Gerold syndrome. Physical examination revealed that the heart was localized to the right side. Echocardiography confirmed dextrocardia. Dextrocardia has not...
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PMID: 21614991
PDF is available here.
PDF is available here.
Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer (189) 2011
Abstract
Abstract
We first present a background on the occurrence of nickel in the environment, human exposure, and human health effects....
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PMID: 21905451
PDF is available here.
PDF is available here.
Prenatal Diagnosis (31)1 2011
Abstract
Abstract
A case of therapy-related myelodysplastic syndrome (t-MDS) with unusual cytogenetics is presented. While therapy related myeloid neoplasms account for 10-20% of all myeloid neoplasms, 90% of therapy related myelodysplastic syndromes (MDS) present with a del(7q) or a del(5q) and fewer than 1% present...
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PMID: 21905579
PDF is available here.
PDF is available here.
Abstract
We reviewed the records of 140 patients to evaluate the presence of familial TS occurrence.
Recurrence of TS was observed in 1.4% of our case series, which represents a 35-fold increased probability of having a second child with TS compared to no recurrence.
This obse...
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PMID: 21648298
PDF is available here.
PDF is available here.
Abstract
We describe a case of a young girl who had Turner's syndrome with concomitant chronic lymphocytic thyroiditis, growth hormone deficiency, and hypothyroidism with cardiopericarditis. CASE: An 11-year-old girl was referred to the outpatient clinic because of short stature, ochriasis, and cardiopalmus....
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PMID: 21648302
PDF is available here.
PDF is available here.
Abstract
Despite advances in diagnostics, the cause of epilepsy has still not been unequivocally determined in 60-65% of patients. In this group of patients, genetic factors probably play the main role. It is thought that genetic predisposition is responsible for the occurrence of so-called "idiopathic" forms...
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PMID: 21384293
PDF is available here.
PDF is available here.
Mutation Research (727)1-2 2011
Abstract
We critically evaluated the genotoxicity data of EDC and its metabolites as part of an evaluation of carcinogenic mechanisms of action of EDC. EDC is genotoxic in multiple test systems via multiple routes of exposure. EDC has been shown to induce DNA adduct formation, gene mutations and chromosomal...
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PMID: 21255676
PDF is available here.
PDF is available here.
Cytogenetic and Genome Research (132)1-2 2011
Abstract
We describe 2 patients with de novo genomic imbalances of 19p13.3. Using high-resolution microarray analysis, we detected a 1.25-Mb deletion in one patient and a 0.81- Mb duplication in another. The resulting phenotypes are quite different; one is a 2-year-old boy with macrocephaly and normal growth...
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PMID: 20938164
PDF is available here.
PDF is available here.
Cytogenetic and Genome Research (132)1-2 2011
Abstract
We report on a partial trisomy of chromosome 4 of the centromere-near region of the short arm of chromosome 4 present as a small supernumerary marker chromosome (sSMC). The sSMC was present in >70% of amnion cells and in 60% of placenta. Further delineation of the size of the duplicated region was d...
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PMID: 20639618
PDF is available here.
PDF is available here.
Abstract
Clinical Cancer Research (17)6 2011
Abstract
High-motility group AT-hook gene 1 (HMGA1) is a non-histone nuclear binding protein that is developmentally regulated. HMGA1 is significantly overexpressed in and associated with high grade and advance stage of prostate cancer (PC). The oncogenic role of HMGA1 is at least mediated through chromosomal...
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PMID: 21138859
PDF is available here.
PDF is available here.
Abstract
We demonstrate that Aurora-A overexpression enhances both the expression level and transcriptional activity of c-Myc. The inhibition of c-Myc expression by RNA interference significantly impaired the oncogenic potential of Aurora-A, resulting in attenuated cellular proliferation and transformation r...
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PMID: 20890087
PDF is available here.
PDF is available here.
British Journal of Nutrition (104)9 2010
Abstract
Repeated heating of vegetable oils at high temperatures during cooking is a very common cooking practice. Repeated heating of edible oils can generate a number of compounds, including polycyclic aromatic hydrocarbons (PAH), some of which have been reported to have carcinogenic potential. Consumption...
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PMID: 20687968
PDF is available here.
PDF is available here.
Bulletin du cancer (97)11 2010
Abstract
While no real improvement in the long term survival has been obtained in lung cancer, during this decade a significant improvement in cancer control has been obtained by biology driven targeted therapy as with anti EGFR tyrosine kinase. Two phases can be described in the knowledge of lung cancer bio...
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PMID: 21051316
PDF is available here.
PDF is available here.
Bulletin du cancer (97)11 2010
Abstract
Genomic DNA displays a non canonical structure prone to be damaged and modified by genotoxic stresses, which are induced either by the endogenous metabolism or attacks from environment or therapeutic pressure. Several molecular pathways allow cells to repair such DNA lesions. Additional mechanisms h...
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PMID: 21084240
PDF is available here.
PDF is available here.
Bulletin du cancer (97)11 2010
Abstract
The genetic origins of the development of malignant haematological disorders have been established at the beginning of the 80ies. Systematic characterization of chromosomal structural abnormalities and, more recently by DNA microarray approaches and sequencing of tumour genomes have allowed the iden...
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PMID: 21051318
PDF is available here.
PDF is available here.
Abstract
The current study was conducted to evaluate the ability of Egyptian bentonite (EB) and montmorillonite (EM) for the prevention of genotoxicity, histochemical and biochemical changes induced by aflatoxin B(1) (AFB(1)) using the micronucleus (MN) assay, chromosomal aberrations and DNA fragmentation an...
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PMID: 20817254
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.
Annals of Internal Medicine (153)8 2010
Summaries for patients. Health effects in fishermen 2 years after assisting with oil spill clean-up.
Abstract
Annals of Internal Medicine (153)8 2010
Abstract
In 2002, the oil tanker Prestige spilled more than 67,000 tons of bunker oil, heavily contaminating the coast of northwestern Spain.
To assess respiratory effects and chromosomal damage in clean-up workers of the oil spill 2 years after the exposure.
Cross-sectional study.
Fishermen cooperatives in...
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PMID: 20733177
PDF is available here.
PDF is available here.
EMBO Journal (29)20 2010
Abstract
We show here that Chk1+/-Chk2-/- and Chk1+/-Chk2+/- mice have a progressive cancer-prone phenotype. Deletion of a single Chk1 allele compromises G2/M checkpoint function that is not further affected by Chk2 depletion, whereas Chk1 and Chk2 cooperatively affect G1/S and intra-S phase checkpoints. Eit...
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PMID: 20834228
PDF is available here.
PDF is available here.
Current Drug Targets (11)10 2010
Abstract
Multiple karyotypic abnormalities and chromosomal instability are characteristic features of many cancers that are relatively resistant to chemotherapeutic agents currently used in the clinic. These same features represent potentially targetable "states" that are essentially tumor specific. The asse...
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PMID: 20840077
PDF is available here.
PDF is available here.
Current Drug Targets (11)10 2010
Abstract
We have hypothesized that during tumor development, cancer cells exhibit a mutator phenotype. As a defining feature of cancer, the mutator phenotype remains an as-yet unexplored therapeutic target: by reducing the rate at which mutations accumulate it may be possible to significantly delay tumor dev...
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PMID: 20840072
PDF is available here.
PDF is available here.
Trends in Microbiology (18)10 2010
Abstract
One of the key questions in the study of mammalian gene regulation is how epigenetic methylation patterns on histones and DNA are initiated and established. These stable, heritable, covalent modifications are largely associated with the repression or silencing of gene transcription, and when deregul...
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PMID: 20724161
PDF is available here.
PDF is available here.
Abstract
1,3-Butadiene’s (BD’s) major electrophilic metabolites 1,2-epoxy-3-butene (EB), 1,2-dihydroxy-3,4-epoxybutane (EBD), and 1,2,3,4-diepoxybutane (DEB) are responsible for both its mutagenicity and carcinogenicity. EB, EBD, and DEB are DNA reactive, forming a variety of adducts. All three...
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PMID: 20868267
PDF is available here.
PDF is available here.
Abstract
To determine the frequency of "signature" chromosomal abnormalities in oncology workers handling anticancer drugs.
Peripheral blood from health care personnel (N = 109) was examined with probes for targets on chromosomes 5, 7, and 11. The effect of drug-handling frequency on chromosome abnormalities...
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PMID: 20881619
PDF is available here.
PDF is available here.
Abstract
We suggest a continuum between UES and MH. Although a chromosomal anomaly of 19q13.4 was not identified, a submicroscopic involvement of this locus cannot be excluded. Additionally, our analyses suggest that multiple chromosomal aberrations may be associated with the MH/UES spectrum....
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PMID: 20925497
PDF is available here.
PDF is available here.
Abstract
While morphology, immunophenotyping, cytogenetics, and clinical history continue to play an important role, an increasing number of molecular tests are now required to properly classify these cases....
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PMID: 20923295
PDF is available here.
PDF is available here.
Food and Chemical Toxicology (48)10 2010
Abstract
Some physico-chemical properties of fat released from chicken during grilling process were evaluated and the results showed that refractive index and saponification values were not affected by grilling process. However, serious increases in oxidative deterioration parameters and color were noticed....
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PMID: 20600526
PDF is available here.
PDF is available here.