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human cytogenetics

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https://www.readbyqxmd.com/read/29689705/low-mir-192-expression-predicts-poor-prognosis-in-pediatric-acute-myeloid-leukemia
#1
Chunmei Tian, Lin Zhang, Xiaohua Li, Yanjun Zhang, Jianchang Li, Liang Chen
BACKGROUND: Abnormal expression of miR-192 has been observed in a variety of human cancers, but the expression pattern of miR-192 and its prognostic value in pediatric acute myeloid leukemia (AML) is poorly known. OBJECTIVE: This study was to explore the expression status of miR-192 and its clinical significance in pediatric patients with AML. METHODS: Quantitative RT-PCR was carried out to detect miR-192 expression level in the serum from 97 AML cases and 50 healthy controls...
April 9, 2018: Cancer Biomarkers: Section A of Disease Markers
https://www.readbyqxmd.com/read/29683471/comprehensive-high-resolution-genomic-profiling-and-cytogenetics-of-human-chondrocyte-cultures-by-gtg-banding-locus-specific-fish-sky-and-snp-array
#2
M Wallenborn, O Petters, D Rudolf, H Hantmann, M Richter, P Ahnert, L Rohani, J J Smink, G C Bulwin, W Krupp, R M Schulz, H Holland
In the development of cell-based medicinal products, it is crucial to guarantee that the application of such an advanced therapy medicinal product (ATMP) is safe for the patients. The consensus of the European regulatory authorities is: "In conclusion, on the basis of the state of art, conventional karyotyping can be considered a valuable and useful technique to analyse chromosomal stability during preclinical studies". 408 chondrocyte samples (84 monolayers and 324 spheroids) from six patients were analysed using trypsin-Giemsa staining, spectral karyotyping and fluorescence in situ hybridisation, to evaluate the genetic stability of an ATMP named Spherox®...
April 23, 2018: European Cells & Materials
https://www.readbyqxmd.com/read/29676649/asbestos-induces-epigenetic-repression-of-ras-association-domain-containing-protein-1-p16-kinase-4a-inhibitor-and-p14-alternative-reading-frame-in-normal-human-mesothelial-cells
#3
Sichuan Xi, Eden C Payabyab, David M Straughan, Emily S Reardon, Mary Zhang, Julie A Hong, R Taylor Ripley, Chuong D Hoang, David S Schrump
RATIONALE: Whereas asbestos burden has been linked to cytogenetic alterations in malignant pleural mesotheliomas, epigenetic aberrations induced by these fibers have not been fully delineated. OBJECTIVES: The objective of this study was to establish an in vitro model to characterize early epigenetic events potentially contributing to malignant pleural mesothelioma. METHODS: Normal human mesothelial cells (LP9 and LP3) were cultured with or without crocidolite asbestos fibers (1 or 2 μg/cm2 ) for up to 10 days...
April 2018: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/29668347/hypothermia-modulates-the-dna-damage-response-to-ionising-radiation-in-human-peripheral-blood-lymphocytes
#4
Halina Lisowska, Lei Cheng, Alice Sollazzo, Lovisa Lundholm, Aneta Wegierek-Ciuk, Sylwester Sommer, Anna Lankoff, Andrzej Wojcik
PURPOSE: Low temperature at exposure has been shown to act in a radioprotective manner at the level of cytogenetic damage. It was suggested to be due to an effective transformation of DNA damage to chromosomal damage at low temperature. The purpose of the study was to analyse the kinetics of aberration formation during the first hours after exposing human peripheral blood lymphocytes to ionising radiation at 0.8 °C and 37 °C. MATERIALS AND METHODS: To this end we applied the technique of premature chromosome condensation...
April 18, 2018: International Journal of Radiation Biology
https://www.readbyqxmd.com/read/29659321/the-influence-of-redox-status-on-inter-individual-variability-in-the-response-of-human-peripheral-blood-lymphocytes-to-ionizing-radiation
#5
Jelena Pajic, Branislav Rovcanin, Dusan Kekic, Dubravka Jovicic, Aleksandar Ps Milovanovic
PURPOSE: Ionizing radiation (IR) can act on atomic structures, producing damage to biomolecules. Earlier investigations evaluating individual radiosensitivity in vitro were focused on cytogenetic biomarkers (chromosomal aberrations - CA and micronuclei - MN). Since IR can also cause oxidative damage by producing reactive oxygen species, the main goal of this investigation was to establish the influence of redox status on CA and MN frequency in human peripheral blood lymphocytes. MATERIALS AND METHODS: Blood samples from 56 healthy donors were irradiated at doses of 0, 0...
April 16, 2018: International Journal of Radiation Biology
https://www.readbyqxmd.com/read/29648481/induction-of-chromosomal-aberrations-and-micronuclei-by-2-hydroxy-4-methoxybenzophenone-oxybenzone-in-human-lymphocytes
#6
Alfredo Santovito, Stefano Ruberto, Gabriella Galli, Costanza Menghi, Marilena Girotti, Piero Cervella
Oxybenzone or benzophenone-3 (2-hydroxy-4-methoxybenzophenone; BP-3) is a filter used in a variety of personal care products for protection of human skin and hair from damage by ultraviolet radiation. BP-3 is suspected to exhibit endocrine disruptive properties. Indeed, it was found to be able to interact with the endocrine system causing alteration of its homeostasis, with consequent adverse health effects. Moreover, it is ubiquitously present in the environment, mostly in aquatic ecosystems, with consequent risks to the health of aquatic organisms and humans...
April 12, 2018: Drug and Chemical Toxicology
https://www.readbyqxmd.com/read/29626926/interpreting-chromosomal-rearrangements-in-the-context-of-3-dimentional-genome-organization-a-practical-guide-for-medical-genetics
#7
REVIEW
V S Fishman, P A Salnikov, N R Battulin
In this exciting era of "next-gen cytogenetics", the use of novel molecular methods such as comparative genome hybridization and whole genome and whole exome sequencing becomes more and more common in clinics. This results in generation of large amounts of high-resolution patient-specific data and challenges the development of new approaches for interpretation of obtained information. Usually, interpretation of chromosomal rearrangements is focused on alterations of linear genome sequence, underestimating the role of spatial chromatin organization...
April 2018: Biochemistry. Biokhimii︠a︡
https://www.readbyqxmd.com/read/29606908/molecular-cytogenetic-analysis-of-one-african-and-five-asian-macaque-species-reveals-identical-karyotypes-as-in-mandrill
#8
Wiwat Sangpakdee, Alongkoad Tanomtong, Arunrat Chaveerach, Krit Pinthong, Vladimir Trifonov, Kristina Loth, Christiana Hensel, Thomas Liehr, Anja Weise, Xiaobo Fan
Background: The question how evolution and speciation work is one of the major interests of biology. Especially, genetic including karyotypic evolution within primates is of special interest due to the close phylogenetic position of Macaca and Homo sapiens and the role as in vivo models in medical research, neuroscience, behavior, pharmacology, reproduction and Acquired Immune Deficiency Syndrome (AIDS). Materials & Methods: Karyotypes of five macaque species from South East Asia and of one macaque species as well as mandrill from Africa were analyzed by high resolution molecular cytogenetics to obtain new insights into karyotypic evolution of old world monkeys...
April 2018: Current Genomics
https://www.readbyqxmd.com/read/29606906/small-supernumerary-marker-chromosome-may-provide-information-on-dosage-insensitive-pericentric-regions-in-human
#9
Ahmed B Hamid Al-Rikabi, Sona Pekova, Xioabo Fan, Tereza Jančušková, Thomas Liehr
Background: Cytogenetically visible chromosomal imbalances in humans are deleterious and adverse in the majority of the cases. However, healthy persons living with chromosomal imbalances in the range of several megabasepairs (Mbps) in size, like carriers of small Supernumerary Marker Chromosomes (sSMCs) exist. Materials & Methods: The identification of healthy sSMC carriers with euchromatic centromere-near (ECN) imbalances led to the following proposal: ECN-regions do not contain any dosage sensitive genes...
April 2018: Current Genomics
https://www.readbyqxmd.com/read/29592892/gene-dosage-effect-of-cux1-in-a-murine-model-disrupts-hsc-homeostasis-and-controls-the-severity-and-mortality-of-mds
#10
Ningfei An, Saira Khan, Molly K Imgruet, Sandeep K Gurbuxani, Stephanie N Konecki, Michael R Burgess, Megan E McNerney
Monosomy 7 (-7) and del(7q) are high-risk cytogenetic abnormalities common in myeloid malignancies. We previously reported that CUX1 , a homeodomain-containing transcription factor encoded on 7q22, is frequently inactivated in myeloid neoplasms, and CUX1 myeloid tumor suppressor activity is conserved from humans to Drosophila CUX1 inactivating mutations are recurrent in clonal hematopoiesis of indeterminate potential (CHIP) as well as myeloid malignancies, in which they independently carry a poor prognosis...
March 28, 2018: Blood
https://www.readbyqxmd.com/read/29576448/dual-inhibition-of-pi3k-mtor-signaling-in-chemoresistant-aml-primary-cells
#11
Jessika Bertacchini, Chiara Frasson, Francesca Chiarini, Daniele D'Avella, Benedetta Accordi, Laura Anselmi, Patrizia Barozzi, Fabio Foghieri, Mario Luppi, Alberto M Martelli, Giuseppe Basso, Saki Najmaldin, Abbas Khosravi, Fakher Rahim, Sandra Marmiroli
A main cause of treatment failure for AML patients is resistance to chemotherapy. Survival of AML cells may depend on mechanisms that elude conventional drugs action and/or on the presence of leukemia initiating cells at diagnosis, and their persistence after therapy. MDR1 gene is an ATP-dependent drug efflux pump known to be a risk factor for the emergence of resistance, when combined to unstable cytogenetic profile of AML patients. In the present study, we analyzed the sensitivity to conventional chemotherapeutic drugs of 26 samples of primary blasts collected from AML patients at diagnosis...
March 19, 2018: Advances in Biological Regulation
https://www.readbyqxmd.com/read/29547982/comparative-cytogenetic-analysis-of-dog-and-human-choroid-plexus-tumors-defines-syntenic-regions-of-genomic-loss
#12
Devin Ancona, Dan York, Robert J Higgins, Danika Bannasch, Peter J Dickinson
Choroid plexus tumors (CPTs) occur spontaneously in humans and dogs providing an opportunity for comparative cross species analysis of common tumor mechanisms. Large scale chromosomal copy number alterations are the hallmark of human CPTs and identification of driver genes within these regions is problematic. Copy number alterations in 12 spontaneous dog CPTs were defined using an Illumina 170 K single nucleotide polymorphism array and were characterized by highly recurrent whole chromosomal losses in up to 100% of cases with few chromosome wide gains...
March 14, 2018: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/29522714/setd2-indicates-favourable-prognosis-in-gastric-cancer-and-suppresses-cancer-cell-proliferation-migration-and-invasion
#13
Ziyi Chen, Chetnadevi Raghoonundun, Weidong Chen, Yanan Zhang, Wenhao Tang, Xin Fan, Xin Shi
SET domain containing protein 2 (SETD2, also known as HYPB) is a 230-kD protein which is located at cytogenetic band p21.31 of chromosome 3. SETD2 is usually transformed or eradicated in multiple forms of tumours in humans. However, its primary function in gastric cancer (GC) remains unclear. In the current study, we investigated the mRNA and protein expression levels of SETD2 using immunohistochemistry, qPCR, RT-PCR, and immunoblotting. The function of SETD2 in GC cells was investigated by MTT and transwell assays...
March 6, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29515938/suppressed-without-a-cause-a-case-of-idiopathic-immune-deficiency
#14
Muhammad Talha Ayub, Munnam S Jafar, Muhammad Khalid, Muhammad A Baig, Benjamin Mba
We report a case of a 45-year-old male who presented with a headache, fever, vomiting, somnolence, and difficulty walking for 10 days. His cerebrospinal fluid studies revealed cryptococcal meningitis. Chest and abdominal computed tomography (CT) scans showed splenomegaly along with mediastinal, retroperitoneal and inguinal lymphadenopathy. CD4 count turned out to be 208 μL-1 . Human immunodeficiency virus (HIV) testing, serum protein electrophoresis, serum light chains and quantitative immunoglobulins were non-diagnostic and CD4 lymphopenia was attributed to acute infection...
January 1, 2018: Curēus
https://www.readbyqxmd.com/read/29496527/cytogenetic-tests-reveal-no-toxicity-in-lymphocytes-of-rabbit-oryctolagus-cuniculus-2n-44-feed-in-presence-of-verbascoside-and-or-lycopene
#15
Angela Perucatti, Viviana Genualdo, Alfredo Pauciullo, Ciro Iorio, Domenico Incarnato, Cristina Rossetti, Francesco Vizzarri, Marisa Palazzo, Donato Casamassima, Leopoldo Iannuzzi, Alessandra Iannuzzi
Phenylpropanoid glycosides (PPG), like other phenolic compounds, are a powerful antioxidants and the Verbascoside (VB) is one of the most active of them. A previous study, by using in vitro exposure of blood human lymphocytes to Verbascoside, reported a significant increasings of chromosome fragility compared to control. In the present study, four homogeneous groups of rabbits were used to test in vivo the VB and/or Lycopene (LP) by feeding the animals without VB and LP (control), in presence of VB or/and LP for 80 days...
February 26, 2018: Food and Chemical Toxicology
https://www.readbyqxmd.com/read/29490426/demonstration-of-a-novel-xp22-2-microdeletion-as-the-cause-of-familial-extreme-skewing-of-x-inactivation-utilizing-case-parent-trio-snp-microarray-analysis
#16
Jane A Mason, Hnin T Aung, Adayapalam Nandini, Rickie G Woods, David J Fairbairn, John A Rowell, David Young, Rachel D Susman, Simon A Brown, Valentine J Hyland, Jeremy D Robertson
BACKGROUND: We report a kindred referred for molecular investigation of severe hemophilia A in a young female in which extremely skewed X-inactivation was observed in both the proband and her clinically normal mother. METHODS: Bidirectional Sanger sequencing of all F8 gene coding regions and exon/intron boundaries was undertaken. Methylation-sensitive restriction enzymes were utilized to investigate skewed X-inactivation using both a classical human androgen receptor (HUMARA) assay, and a novel method targeting differential methylation patterns in multiple informative X-chromosome SNPs...
February 28, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29474504/the-first-in-vivo-multiparametric-comparison-of-different-radiation-exposure-biomarkers-in-human-blood
#17
Ales Tichy, Sylwia Kabacik, Grainne O'Brien, Jaroslav Pejchal, Zuzana Sinkorova, Adela Kmochova, Igor Sirak, Andrea Malkova, Caterina Gomila Beltran, Juan Ramon Gonzalez, Jakub Grepl, Matthaeus Majewski, Elizabeth Ainsbury, Lenka Zarybnicka, Jana Vachelova, Alzbeta Zavrelova, Marie Davidkova, Marketa Markova Stastna, Michael Abend, Eileen Pernot, Elisabeth Cardis, Christophe Badie
The increasing risk of acute large-scale radiological/nuclear exposures of population underlines the necessity of developing new, rapid and high throughput biodosimetric tools for estimation of received dose and initial triage. We aimed to compare the induction and persistence of different radiation exposure biomarkers in human peripheral blood in vivo. Blood samples of patients with indicated radiotherapy (RT) undergoing partial body irradiation (PBI) were obtained soon before the first treatment and then after 24 h, 48 h, and 5 weeks; i...
2018: PloS One
https://www.readbyqxmd.com/read/29455671/oncogenic-fusion-proteins-adopt-the-insulin-like-growth-factor-signaling-pathway
#18
REVIEW
Haim Werner, Shilhav Meisel-Sharon, Ilan Bruchim
The insulin-like growth factor-1 receptor (IGF1R) has been identified as a potent anti-apoptotic, pro-survival tyrosine kinase-containing receptor. Overexpression of the IGF1R gene constitutes a typical feature of most human cancers. Consistent with these biological roles, cells expressing high levels of IGF1R are expected not to die, a quintessential feature of cancer cells. Tumor specific chromosomal translocations that disrupt the architecture of transcription factors are a common theme in carcinogenesis...
February 19, 2018: Molecular Cancer
https://www.readbyqxmd.com/read/29455205/use-of-array-comparative-genomic-hybridization-for-the-diagnosis-of-digeorge-syndrome-in-saudi-arabian-population
#19
Abeer A Bahamat, Mourad Assidi, Sahira A Lary, Muna M Almughamsi, Abdul A Peer Zada, Adeel Chaudhary, Adel Abuzenadah, Muhammad Abu-Elmagd, Mohammed Al-Qahtani
DiGeorge syndrome (DGS) is a genetic disorder known as a clinically variable syndrome with over 180 associated phenotypic features. It is caused by a common human deletion in the 22q11.2 chromosomal region and currently is affecting approximately 1 in 4,000 individuals. Despite the prevalence of inherited diseases mainly due to consanguineous marriages, the current diagnosis of DGS in Saudi Arabia is mainly based on conventional high-resolution chromosome banding (karyotyping) and FISH techniques. However, advanced genome-wide studies for detecting microdeletions or duplications across the whole genome are needed...
February 17, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29439729/application-of-neural-networks-for-classification-of-patau-edwards-down-turner-and-klinefelter-syndrome-based-on-first-trimester-maternal-serum-screening-data-ultrasonographic-findings-and-patient-demographics
#20
Aida Catic, Lejla Gurbeta, Amina Kurtovic-Kozaric, Senad Mehmedbasic, Almir Badnjevic
BACKGROUND: The usage of Artificial Neural Networks (ANNs) for genome-enabled classifications and establishing genome-phenotype correlations have been investigated more extensively over the past few years. The reason for this is that ANNs are good approximates of complex functions, so classification can be performed without the need for explicitly defined input-output model. This engineering tool can be applied for optimization of existing methods for disease/syndrome classification. Cytogenetic and molecular analyses are the most frequent tests used in prenatal diagnostic for the early detection of Turner, Klinefelter, Patau, Edwards and Down syndrome...
February 13, 2018: BMC Medical Genomics
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