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human cytogenetics

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https://www.readbyqxmd.com/read/28079792/amplification-of-her2-and-top2a-and-deletion-of-top2a-genes-in-a-series-of-taiwanese-breast-cancer
#1
Jim-Ray Chen, Hui-Ping Chien, Kuo-Su Chen, Cheng-Cheng Hwang, Huang-Yang Chen, Kun-Yan Yeh, Tsan-Yu Hsieh, Liang-Che Chang, Yuan-Chun Hsu, Ren-Jie Lu, Chung-Ching Hua
BACKGROUND: The prognostic relevance of topoisomerase II alpha (TOP2A) copy number change remains not well established. This study is aimed to investigate the frequency and pattern of TOP2A aberrations; to correlate TOP2A alterations with human epidermal growth factor receptor 2 (HER2) status and clinicopathological parameters, and further to explore prognostic value of TOP2A and HER2 status in breast cancer in Taiwan. METHODS: We analyzed tissue samples from 311 invasive carcinomas in tissue microarrays for TOP2A and HER2 status by fluorescent in situ hybridization...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28055232/biological-features-of-a-renal-cell-carcinoma-cell-line-derived-from-spinal-metastasis
#2
Zhenhua Zhou, Yan Li, Huiqing Wang, Xudong Wang, Jianru Xiao
The establishment of a metastatic renal cell carcinoma (mRCC) cell line can facilitate the search for molecular mechanisms involved in RCC metastasis. A novel human mRCC cell line, designated RCC96, was established from an mRCC of the spine from a 65-year-old Chinese man. Morphology, cell cycle phase, chromosome number, cell capability of migration, tumorigenicity in nude mice, and cytogenetic features of RCC96 were investigated. Cell growth curve was detected and the cell number doubling time was 52 h. Karyotype analysis showed that these cells were polyploidy...
January 5, 2017: DNA and Cell Biology
https://www.readbyqxmd.com/read/28052524/cross-species-analysis-of-the-canine-and-human-bladder-cancer-transcriptome-and-exome
#3
Stephen A Ramsey, Tanjin Xu, Cheri Goodall, Adelaide C Rhodes, Amita Kashyap, Jun He, Shay Bracha
We investigated the correspondence between transcriptome and exome alterations in canine bladder cancer and the correspondence between these alterations and cancer-driving genes and transcriptional alterations in human bladder cancer. We profiled canine bladder tumors using mRNA-seq and exome-seq and used a comparative oncology approach to investigate: (i) the similarity of transcriptional alterations in bladder cancer vs. normal bladder, in humans and canines, at the levels of gene functions, pathways, and cytogenetic regions; and (ii) the extent to which genic mutations in canine bladder cancer are associated with known cancer mutations (from human) as well as alterations in transcript levels in the canine tumor...
January 3, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28050721/titanium-dioxide-nanoparticles-an-in-vitro-study-of-dna-binding-chromosome-aberration-assay-and-comet-assay
#4
Suhani Patel, Palak Patel, Sonal R Bakshi
Engineered titanium dioxide nanoparticles (TiO2 NPs) are extensively used in cosmetic, pharmaceutical and other industries globally due to their unique properties, which has raised concern for biosafety. Genotoxicity assessment is an important part of biosafety evaluation; we report in vitro cytogenetic assays for NPs considering their unique physicochemical characteristics to fill the gap of laboratory data regarding biological safety along with mechanistic study for mode of interaction of NP with genetic material...
January 3, 2017: Cytotechnology
https://www.readbyqxmd.com/read/28042328/-68-ga-pentixafor-pet-ct-for-imaging-of-chemokine-receptor-cxcr4-expression-in-multiple-myeloma-comparison-to-18-f-fdg-and-laboratory-values
#5
Constantin Lapa, Martin Schreder, Andreas Schirbel, Samuel Samnick, Klaus Martin Kortüm, Ken Herrmann, Saskia Kropf, Herrmann Einsele, Andreas K Buck, Hans-Jürgen Wester, Stefan Knop, Katharina Lückerath
Chemokine (C-X-C motif) receptor 4 (CXCR4) is a key factor for tumor growth and metastasis in several types of human cancer including multiple myeloma (MM). Proof-of-concept of CXCR4-directed radionuclide therapy in MM has recently been reported. This study assessed the diagnostic performance of the CXCR4-directed radiotracer [(68)Ga]Pentixafor in MM and a potential role for stratifying patients to CXCR4-directed therapies. Thirty-five patients with MM underwent [(68)Ga]Pentixafor-PET/CT for evaluation of eligibility for endoradiotherapy...
2017: Theranostics
https://www.readbyqxmd.com/read/28033099/an-alternative-approach-to-studying-the-effects-of-zno-nanoparticles-in-cultured-human-lymphocytes-combining-electrochemistry-and-genotoxicity-tests
#6
Gina Branica, Marin Mladinić, Dario Omanović, Davor Želježić
Nanoparticle use has increased radically raising concern about possible adverse effects in humans. Zinc oxide nanoparticles (ZnO NPs) are among the most common nanomaterials in consumer and medical products. Several studies indicate problems with their safe use. The aim of our study was to see at which levels ZnO NPs start to produce adverse cytogenetic effects in human lymphocytes as an early attempt toward establishing safety limits for ZnO NP exposure in humans. We assessed the genotoxic effects of low ZnO NP concentrations (1...
December 1, 2016: Arhiv za Higijenu Rada i Toksikologiju
https://www.readbyqxmd.com/read/28027549/damage-of-chromosoms-under-irradiation-of-human-blood-lymphocytes-and-development-of-bystander-effect
#7
O V Shemetun
OBJECTIVE: the research the distribution of radiation induced damages among chromosomes and their bands in irra diated in vitro human blood lymphocytes and in unirradiated bystander cells.Material and methods of research: cultivation of human peripheral blood lymphocytes by semi micromethod D.A. Hungerford, modeling of radiation induced bystander effect in mixed cultures consisting of irradiated in vitro and non irradiated blood lymphocytes from persons of different gender, GTG staining of metaphase chromosomes and their cytogenetic analysis...
December 2016: Problemy Radiat︠s︡iĭnoï Medyt︠s︡yny Ta Radiobiolohiï
https://www.readbyqxmd.com/read/28027548/genoprotective-properties-of-astaxanthin-revealed-by-ionizing-radiation-exposure-in-vitro-on-human-peripheral-blood-lymphocytes
#8
M A Pilinska, D A Кurinnyi, S R Rushkovsky, O B Dybska
OBJECTIVE: to identify possible radioprotective properties of astaxanthin by means of cytogenetic criteria. METHODS: Cultivation of peripheral blood lymphocytes from five apparently healthy volunteers; treatment of lym phocytes' cultures by astaxanthin in final concentrations 20 μg/ml in Go phase of mitotic cycle, prior to ? irradia tion in vitro in a dose 1 Gy; cytogenetic analysis the uniformly stained slides of metaphase chromosomes. The elec trophoresis of individual cells (Comet assay); visualization of results under fluorescent microscope; accounting the number of nucleoid the fourth grade that correspond to apoptosis of the cells...
December 2016: Problemy Radiat︠s︡iĭnoï Medyt︠s︡yny Ta Radiobiolohiï
https://www.readbyqxmd.com/read/28003272/cancer-specific-changes-in-dna-methylation-reveal-aberrant-silencing-and-activation-of-enhancers-in-leukemia
#9
Ying Qu, Lee Siggens, Lina Cordeddu, Verena I Gaidzik, Kasper Karlsson, Lars Bullinger, Konstanze Döhner, Karl Ekwall, Sören Lehmann, Andreas Lennartsson
Acute myeloid leukemia (AML) is characterized by an impaired differentiation process leading to an accumulation of immature blasts in the blood. One feature of cytogenetically normal AML is alterations to the DNA methylome. Here we have analyzed 57 AML patients with normal karyotype using Illuminas 450 k array and show that aberrant DNA methylation is significantly altered at enhancer regions and that the methylation levels at specific enhancers predict overall survival of AML patients. The majority of sites that become differentially methylated in AML occur in regulatory elements of the human genome...
December 21, 2016: Blood
https://www.readbyqxmd.com/read/27998191/in-vitro-potential-cytogenetic-and-oxidative-stress-effects-of-roxithromycin
#10
Mehmet Arslan, Taygun Timocin, Hasan B Ila
Macrolide antibiotic roxithromycin was evaluated in terms of its genotoxic, cytotoxic and oxidative stress effects. For this purpose; 25, 50, 100 and 200 μg/mL concentrations of roxithromycin were dissolved in dimethyl sulfoxide and treated to human peripheral blood lymphocytes for two different treatment periods (24 and 48 h). In chromosome aberration (CA) and micronucleus (MN) tests, roxithromycin did not show genotoxic effect. But it induced sister chromatid exchange (SCE) at the highest concentration (200 μg/mL) for the 24-h treatment period and at all concentrations (except 25 μg/mL) for the 48-h treatment period...
December 21, 2016: Drug and Chemical Toxicology
https://www.readbyqxmd.com/read/27995640/genotoxic-risk-of-ethyl-paraben-could-be-related-to-telomere-shortening
#11
F Finot, A Kaddour, L Morat, I Mouche, N Zaguia, C Cuceu, D Souverville, S Négrault, O Cariou, A Essahli, N Prigent, J Saul, F Paillard, L Heidingsfelder, P Lafouge, M Al Jawhari, W M Hempel, M El May, B Colicchio, A Dieterlen, E Jeandidier, L Sabatier, J Clements, R M'Kacher
The ability of parabens to promote the appearance of multiple cancer hallmarks in breast epithelium cells provides grounds for regulatory review of the implication of the presence of parabens in human breast tissue. It is well documented that telomere dysfunction plays a significant role in the initiation of genomic instability during carcinogenesis in human breast cancer. In the present study, we evaluated the genotoxic effect of ethyl 4-hydroxybenzoate (ethyl-paraben), with and without metabolic activation (S9), in studies following OECD guidelines...
December 20, 2016: Journal of Applied Toxicology: JAT
https://www.readbyqxmd.com/read/27994187/cytogenetic-analysis-in-couples-with-recurrent-miscarriages-a-retrospective-study-from-punjab-north-india
#12
Neha Sudhir, Tajinder Kaur, Archana Beri, Anupam Kaur
Human reproduction is considered as the most inefficient event as ~15-20% of human pregnancies end in miscarriage and in the product of miscarriages, chromosomal anomalies are a common occurrence. The aim of the present retrospective study was to assess the frequency of chromosomal aberrations in couples with recurrent miscarriages in the region of Punjab and to compare with worldwide frequencies. In this study, a total of 440 cases were referred between the period 1995-2015. After lymphocyte culturing, giemsa-trypsin banding was done for each case to assess the chromosomal anomalies...
December 2016: Journal of Genetics
https://www.readbyqxmd.com/read/27984132/enterolactone-a-novel-radiosensitizer-for-human-breast-cancer-cell-lines-through-impaired-dna-repair-and-increased-apoptosis
#13
Bahareh Bigdeli, Bahram Goliaei, Nastaran Masoudi-Khoram, Najmeh Jooyan, Alireza Nikoofar, Maryam Rouhani, Abbas Haghparast, Fatemeh Mamashli
INTRODUCTION: Radiotherapy is a potent treatment against breast cancer, which is the most commonly diagnosed cancer among women. However, the emergence of radioresistance due to increased DNA repair leads to radiotherapeutic failure. Applying polyphenols combined with radiation is a more promising method leading to better survival. Enterolactone, a phytoestrogenic polyphenol, has been reported to inhibit an important radioresistance signaling pathway, therefore we conjectured that enterolactone could enhance radiosensitivity in breast cancer...
October 27, 2016: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/27974725/azoospermia-and-testicular-hypoplasia-in-a-boar-carrier-of-a-novel-y-autosome-translocation
#14
Daniel A F Villagómez, Tamas Revay, Brendan Donaldson, Samira Rezaei, Alain Pinton, Manuel Palomino, Awang Junaidi, Ali Honaramooz, W Allan King
Few sex-autosome chromosome abnormalities have been documented in domestic animal species. In humans, Y-autosome chromosome abnormalities may occur at a rate of 1/2,000 live births, whereas in the domestic pig only 2 Y-autosome reciprocal translocations have been previously described. During a routine cytogenetic screening of young boars, we identified a new Y-autosome translocation carrier, which after puberty showed semen devoid of sperm and testicular hypoplasia with spermatogenesis arrest. Whole chromosome painting by FISH analysis corroborated the reciprocal nature of the chromosomal exchanges between the Y chromosome and SSC13...
December 15, 2016: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/27959887/increased-micronucleus-frequency-in-peripheral-blood-lymphocytes-predicts-the-risk-of-bladder-cancer
#15
Barbara Pardini, Clara Viberti, Alessio Naccarati, Alessandra Allione, Marco Oderda, Rossana Critelli, Mirko Preto, Andrea Zijno, Giuseppina Cucchiarale, Paolo Gontero, Paolo Vineis, Carlotta Sacerdote, Giuseppe Matullo
BACKGROUND: Bladder cancer (BC) is among the most common malignancies worldwide. The identification of new biomarkers for early BC detection, recurrence/progression is urgently needed. The cytokinesis-block micronucleus assay (CBMN) evaluates chromosome damage in cultured human lymphocytes and micronuclei (MN) provide a convenient and reliable index of both chromosome breakage and loss. METHODS: Chromosomal damage (expressed as frequencies of MN, nucleoplasmic bridges and nuclear buds (NBUD)) was evaluated by CBMN assay in cryopreserved lymphocytes from 158 age/smoking-matched pairs of cases and controls in relation to BC risk, recurrence or progression...
December 13, 2016: British Journal of Cancer
https://www.readbyqxmd.com/read/27957806/allogenic-human-serum-a-clinical-grade-serum-supplement-for-promoting-human-periodontal-ligament-stem-cell-expansion
#16
Premjit Arpornmaeklong, Chotika Sutthitrairong, Piyathida Jantaramanant, Prisana Pripatnanont
Exposing human periodontal ligament stem cells (hPDLSCs) to animal proteins during cell expansion would compromise quality and safety of the hPDLSCs for clinical applications. The current study aimed to evaluate the replacement of animal based serum by human serum for the expansion of hPDLSCs. Human PDLSCs were cultured in culture media supplemented with 4 types of serums, Group A: fetal bovine serum (FBS), Group B: allogeneic human male AB serum (HS) and Group C in-house autologous (Auto-HS) and Group D: in-house allogeneic human serums (Allo-HS)...
December 13, 2016: Journal of Tissue Engineering and Regenerative Medicine
https://www.readbyqxmd.com/read/27934605/generation-of-an-abcc8-heterozygous-mutation-human-embryonic-stem-cell-line-using-crispr-cas9
#17
Dongsheng Guo, Haikun Liu, Ge Gao, Aynisahan Ruzi, Kepin Wang, Han Wu, Keyu Lai, Yanli Liu, Fan Yang, Liangxue Lai, Yin-Xiong Li
The gene of ATP-binding cassette subfamily C member 8 (Abcc8) is cytogenetically located at 11p15.1 and encodes the sulfonylurea receptor (SUR1). SUR1 is a subunit of ATP-sensitive potassium channel (KAPT) in the β-cell regulating insulin secretion. Mutations of ABCC8 are responsible for congenital hyperinsulinism (CHI). Here we reported that an Abcc8 heterozygous mutant cell line was generated by CRISPR/Cas9 technique with 1bp insertion resulting in abnormal splicing on human embryonic stem cell line H1. The phenotypic characteristics of this cell line reveal defective KATP channel and diazoxide-responsive that provides ideal model for molecular pathology research and drug screening for CHI...
November 5, 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27934599/generation-of-an-abcc8-homozygous-mutation-human-embryonic-stem-cell-line-using-crispr-cas9
#18
Dongsheng Guo, Haikun Liu, Ge Gao, Aynisahan Ruzi, Kepin Wang, Han Wu, Keyu Lai, Yanli Liu, Fan Yang, Liangxue Lai, Yin-Xiong Li
The gene of ATP-binding cassette subfamily C member 8 (Abcc8) is cytogenetically located at 11p15.1 and encodes the sulfonylurea receptor (SUR1). SUR1 is a subunit of ATP-sensitive potassium channel (KAPT) in the β-cell regulating insulin secretion. Mutations of ABCC8 are responsible for congenital hyperinsulinism (CHI). Here we generated an Abcc8 homozygous mutant cell line by CRISPR/Cas9 technique with 22bp deletion resulting in abnormal splicing on human embryonic stem cell line H1. The phenotypic characteristics of this cell line reveal defective KATP channel and diazoxide-unresponsive that provides an ideal model for molecular pathology research and drug screening for CHI...
November 9, 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27915083/pharmacodynamic-and-cytogenetic-evaluation-in-cyp2c19-2-and-cyp2c19-3-allelomorphism-in-south-indian-population-with-clopidogrel-therapy
#19
Javeed Ahmad Tantray, K Pratap Reddy, Kaiser Jamil, Y Shiva Kumar
BACKGROUND: Genetic factors play a significant role in pathogenesis of most diseases of heart. The present study was undertaken to correlate coronary artery disease with demographical, biochemical alterations, SNPs, gene expression and chromosomal abnormalities and for further enlightening the investigation in this field. METHODS: 150 patients taking clopidogrel drug were selected and single nucleotide polymorphism was done by PCR-RFLP techniques. With the same patients cytogenetic analysis was carried out on leukocyte cultures by karyotyping...
November 11, 2016: International Journal of Cardiology
https://www.readbyqxmd.com/read/27910033/cytogenetic-resources-and-information
#20
Etienne De Braekeleer, Jean-Loup Huret, Hossain Mossafa, Philippe Dessen
The main databases devoted stricto sensu to cancer cytogenetics are the "Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer" ( http://cgap.nci.nih.gov/Chromosomes/Mitelman ), the "Atlas of Genetics and Cytogenetics in Oncology and Haematology" ( http://atlasgeneticsoncology.org ), and COSMIC ( http://cancer.sanger.ac.uk/cosmic ).However, being a complex multistep process, cancer cytogenetics are broadened to "cytogenomics," with complementary resources on: general databases (nucleic acid and protein sequences databases; cartography browsers: GenBank, RefSeq, UCSC, Ensembl, UniProtKB, and Entrez Gene), cancer genomic portals associated with recent international integrated programs, such as TCGA or ICGC, other fusion genes databases, array CGH databases, copy number variation databases, and mutation databases...
2017: Methods in Molecular Biology
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