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https://www.readbyqxmd.com/read/29455671/oncogenic-fusion-proteins-adopt-the-insulin-like-growth-factor-signaling-pathway
#1
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
#2
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
#3
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
https://www.readbyqxmd.com/read/29432078/endogenous-tumor-suppressor-microrna-193b-therapeutic-and-prognostic-value-in-acute-myeloid-leukemia
#4
Raj Bhayadia, Kathrin Krowiorz, Nadine Haetscher, Razan Jammal, Stephan Emmrich, Askar Obulkasim, Jan Fiedler, Adrian Schwarzer, Arefeh Rouhi, Michael Heuser, Susanne Wingert, Sabrina Bothur, Konstanze Döhner, Tobias Mätzig, Michelle Ng, Dirk Reinhardt, Hartmut Döhner, C Michel Zwaan, Marry van den Heuvel Eibrink, Dirk Heckl, Maarten Fornerod, Thomas Thum, R Keith Humphries, Michael A Rieger, Florian Kuchenbauer, Jan-Henning Klusmann
Purpose Dysregulated microRNAs are implicated in the pathogenesis and aggressiveness of acute myeloid leukemia (AML). We describe the effect of the hematopoietic stem-cell self-renewal regulating miR-193b on progression and prognosis of AML. Methods We profiled miR-193b-5p/3p expression in cytogenetically and clinically characterized de novo pediatric AML (n = 161) via quantitative real-time polymerase chain reaction and validated our findings in an independent cohort of 187 adult patients. We investigated the tumor suppressive function of miR-193b in human AML blasts, patient-derived xenografts, and miR-193b knockout mice in vitro and in vivo...
February 12, 2018: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29410302/the-blackfly-vectors-and-transmission-of-onchocerca-volvulus-in-mahenge-south-eastern-tanzania
#5
Adam Hendy, Andreas Krüger, Kenneth Pfarr, Jacobus De Witte, Addow Kibweja, Upendo Mwingira, Jean-Claude Dujardin, Rory Post, Robert Colebunders, Sarah O'Neill, Akili Kalinga
The Mahenge Mountains onchocerciasis focus in south eastern Tanzania was historically one of the most heavily infected areas in the country. The vectors of Onchocerca volvulus are mainly Simulium damnosum complex blackflies, but a species of the Simulium neavei group may also contribute to transmission in some areas. The only detailed studies of parasite transmission in Mahenge were conducted in the late 1960s. The taxonomy of the S. damnosum complex has since been revised and onchocerciasis control through annual community directed treatment with ivermectin (CDTI) commenced in 1997...
February 1, 2018: Acta Tropica
https://www.readbyqxmd.com/read/29396076/-what-are-the-real-purpose-and-scope-of-screening-for-aneuploidy
#6
T Quibel, P Rozenberg
In France, the recommended method for Down syndrome screening is the first trimester combined test, the risk assessment, based on maternal age, ultrasound measurement of fetal nuchal translucency and maternal serum markers (free β-hCG and PAPP-A). The Down syndrome detection rate is 78.7% at a screen positive rate of 5%. However, the best screening test is the integrated test using a combination of first trimester combined test and second trimester quadruple test (serum α-fetoprotein, human chorionic gonadotropin, unconjugated E3, and dimeric inhibin-A) and being able to achieve a detection rate for Down syndrome of approximately 96% at a screen-positive rate of 5%...
January 27, 2018: Gynecologie, Obstetrique, Fertilite & Senologie
https://www.readbyqxmd.com/read/29379568/characterization-of-a-de-novo-constitutional-balanced-translocation-t-2-11-q33-2-q23-2-with-break-point-on-the-human-nbeal1-geneho
#7
Javad Karimzadhagh, Soraya Salehgargari, Mirdavood Omrani
Reciprocal balanced translocations associated with clinical features are very rare. This study reports cytogenetic and molecular cytogenetic findings in a 3-yr-old female patient with mild developmental retardation, slight hypotone with a de novo balanced 46, XX, t(2; 11) (q33; q23) translocation. Her parent attended private office at Tehran, Iran in 2013. G-banded chromosomes and FISH-Analysis were used to examine the patient's karyotype as well as her parents. FISH-probes prepared with specific RP11-BAC clones mapped near 2q33 and 11q23 regions were used to characterize the location of the breakpoints...
2018: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/29366772/validation-of-a-targeted-next-generation-sequencing-based-comprehensive-chromosome-screening-platform-for-detection-of-triploidy-in-human-blastocysts
#8
Diego Marin, Rebekah Zimmerman, Xin Tao, Yiping Zhan, Richard T Scott, Nathan R Treff
Triploidy accounts for ~2% of natural pregnancies and 15% of cytogenetically abnormal miscarriages. This study aimed to validate triploidy detection in human blastocysts, its frequency and parental origin using genotyping data generated in parallel with chromosome copy number analysis by a targeted next generation sequencing (tNGS)-based comprehensive chromosome screening platform. Phase 1: diploid and triploid control samples were blinded, sequenced by tNGS and karyotype predictions compared for accuracy. Phase 2: tNGS was used to calculate the frequency of triploidy in 18,791 human blastocysts from trophectoderm (TE) biopsies...
January 2, 2018: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29359202/characterization-of-tetraploid-somatic-cell-nuclear-transfer-derived-human-embryonic-stem-cells
#9
Dong-Hyuk Shin, Jeoung-Eun Lee, Jin Hee Eum, Young Gie Chung, Hoon Taek Lee, Dong Ryul Lee
Polyploidy is occurred by the process of endomitosis or cell fusion and usually represent terminally differentiated stage. Their effects on the developmental process were mainly investigated in the amphibian and fishes, and only observed in some rodents as mammalian model. Recently, we have established tetraploidy somatic cell nuclear transfer-derived human embryonic stem cells (SCNT-hESCs) and examined whether it could be available as a research model for the polyploidy cells existed in the human tissues. Two tetraploid hESC lines were artificially acquired by reintroduction of remained 1st polar body during the establishment of SCNT-hESC using MII oocytes obtained from female donors and dermal fibroblasts (DFB) from a 35-year-old adult male...
December 2017: Balsaeng'gwa Saengsig
https://www.readbyqxmd.com/read/29351567/whole-thorax-irradiation-of-non-human-primates-induces-persistent-nuclear-damage-and-gene-expression-changes-in-peripheral-blood-cells
#10
Shanaz A Ghandhi, Helen C Turner, Igor Shuryak, Gregory O Dugan, J Daniel Bourland, John D Olson, Janet A Tooze, Shad R Morton, Ines Batinic-Haberle, J Mark Cline, Sally A Amundson
We investigated the cytogenetic and gene expression responses of peripheral blood cells of non-human primates (NHP, Macaca mulatta) that were whole-thorax irradiated with a single dose of 10 Gy. In this model, partial irradiation of NHPs in the thoracic region (Whole Thorax Lung Irradiation, WTLI) allows the study of late radiation-induced lung injury, while avoiding acute radiation syndromes related to hematopoietic and gastrointestinal injury. A transient drop in circulating lymphocytes and platelets was seen by 9 days, followed by elevations in respiratory rate, circulating neutrophils, lymphocytes, and monocytes at 60-100 days, corresponding to computed tomography (CT) and histologic evidence of pneumonitis, and elective euthanasia of four animals...
2018: PloS One
https://www.readbyqxmd.com/read/29337680/in-vitro-assessment-of-the-cytotoxic-dna-damaging-and-cytogenetic-effects-of-hydroquinone-in-human-peripheral-blood-lymphocytes
#11
Karlo Jurica, Irena Brčić Karačonji, Vesna Benković, Nevenka Kopjar
This study investigated the mechanisms of hydroquinone toxicity and assessed the relationships between its cytotoxic, genotoxic, and cytogenetic effects tested at 8, 140, and 280 μg mL-1 in human peripheral blood lymphocytes exposed for 24 h. The outcomes of the treatments were evaluated using the apoptosis/necrosis assay, the alkaline comet assay, and the cytokinesis-block micronucleus (CBMN) cytome assay. The tested hydroquinone concentrations produced relatively weak cytotoxicity in resting lymphocytes, which mostly died via apoptosis...
December 20, 2017: Arhiv za Higijenu Rada i Toksikologiju
https://www.readbyqxmd.com/read/29331774/the-synergy-of-vitamin-c-with-decitabine-activates-tet2-in-leukemic-cells-and-significantly-improves-overall-survival-in-elderly-patients-with-acute-myeloid-leukemia
#12
Huihui Zhao, Huayuan Zhu, Jiayu Huang, Yu Zhu, Ming Hong, Han Zhu, Jingjing Zhang, Shan Li, Lijia Yang, Yun Lian, Shuai Wang, Jianping Mao, Yaoyu Chen, Jianyong Li, Sixuan Qian
BACKGROUND: Decitabine is widely used in the treatment of acute myeloid leukemia (AML) in elderly patients. Low-dose Vitamin C has also been indicated to induce DNA demethylation at the cellular level. However, little is known whether low-dose Vitamin C has a synergistic effect with decitabine in clinic. METHODS: The effect of combined low-dose Vitamin C and decitabine on cell proliferation, the cell cycle, apoptosis and the expression level and activity of TET2 was investigated in HL60 and NB4 human leukemic cells...
January 2, 2018: Leukemia Research
https://www.readbyqxmd.com/read/29289481/analysis-of-real-world-data-on-postremission-therapy-for-acute-myeloid-leukemia-with-intermediate-risk-cytogenetics-in-first-complete-remission
#13
Jan Vydra, Cyril Šálek, Jiří Schwarz, Pavel Žák, Jan Novák, Veronika Petečuková, Pavla Pecherková, Jiří Mayer, Petr Cetkovský, Zdeněk Ráčil
BACKGROUND: We retrospectively analyzed data from 310 patients with acute myeloid leukemia with intermediate-risk cytogenetics in first complete remission (CR1) to evaluate the usage and efficacy of various types of postremission therapy. PATIENTS AND METHODS: Cox regression with time-dependent covariates, landmark analysis, and competing risk models were used to estimate the outcomes and effects of treatment and patient- and disease-related risk factors. RESULTS: The early relapse rate and early nonrelapse mortality (NRM) were 12...
December 7, 2017: Clinical Lymphoma, Myeloma & Leukemia
https://www.readbyqxmd.com/read/29286507/study-the-impact-of-astaxanthin-on-developing-of-genomic-instability-in-human-peripheral-blood-lymphocytes-irradiated-in-vitro-on-g2-phase-of-cell-cycle
#14
D A Кurinnyi, S R Rushkovsky, O M Demchenko, M A Pilinska
OBJECTIVE: To identify the possibility of modification by astaxanthin the level of genome damages induced by gamma quanta in the culture of human peripheral blood lymphocytes exposed in vitro on postsynthetic (G2) phase of the first mitotic cycle. MATERIALS AND METHODS: Peripheral blood lymphocytes from four apparently healthy volunteers 35-51 years old were cultivated using modified micromethod. To obtain genomic damages in G2 phase of the first mitotic cycle the part of cultures was irradiated by γ quanta in dose 1...
December 2017: Problemy Radiat︠s︡iĭnoï Medyt︠s︡yny Ta Radiobiolohiï
https://www.readbyqxmd.com/read/29285029/establishment-and-characterization-of-primary-cultures-from-iranian-oral-squamous-cell-carcinoma-patients-by-enzymatic-method-and-explant-culture
#15
Meysam Ganjibakhsh, Pouyan Aminishakib, Parvaneh Farzaneh, Abbas Karimi, Seyed Abolhassan Shahzadeh Fazeli, Moones Rajabi, Ahmad Nasimian, Fereshteh Baghai Naini, Hedieh Rahmati, Neda Sadat Gohari, Nazanin Mohebali, Masoumeh Asadi, Zahra Elyasi Gorji, Mehrnaz Izadpanah, Shiva Mohamadi Moghanjoghi, Sepideh Ashouri
Objectives: Oral Squamous Cell Carcinoma (OSCC) is the most frequent oral cancer worldwide. It is known as the eighth most common cancer in men and as the fifth most common cancer in women. Cytogenetic and biochemical studies in recent decades have emphasized the necessity of providing an appropriate tool for such researches. Cancer cell culture is a useful tool for investigations on biochemical, genetic, molecular and immunological characteristics of different cancers, including oral cancer...
July 2017: Journal of Dentistry of Tehran University of Medical Sciences
https://www.readbyqxmd.com/read/29243948/shanghai-health-study-2001-2009-what-was-learned-about-benzene-health-effects
#16
Sherilyn A Gross, Dennis J Paustenbach
The Shanghai Health Study (SHS) was a large epidemiology study conducted as a joint effort between the University of Colorado and Fudan University in Shanghai, China. The study was funded by members of the American Petroleum Institute between 2001 and 2009 and was designed to evaluate the human health effects associated with benzene exposure. Two arms of the SHS included: an occupational-based molecular epidemiology study and several hospital-based case control studies. Consistent with historical literature, following sufficient exposure to relatively high airborne concentrations and years of exposure, the SHS concluded that exposure to benzene resulted in an increased risk of various blood and bone marrow abnormalities such as benzene poisoning, aplastic anemia (AA), myelodysplastic syndrome (MDS), and acute myeloid leukemia (AML)...
December 15, 2017: Critical Reviews in Toxicology
https://www.readbyqxmd.com/read/29236847/protocol-for-chromosome-specific-probe-construction-using-prins-micromanipulation-and-dop-pcr-techniques
#17
Paulo Z Passamani, Carlos R Carvalho, Fernanda A F Soares
Chromosome-specific probes have been widely used in molecular cytogenetics, being obtained with different methods. In this study, a reproducible protocol for construction of chromosome-specific probes is proposed which associates in situ amplification (PRINS), micromanipulation and degenerate oligonucleotide-primed PCR (DOP-PCR). Human lymphocyte cultures were used to obtain metaphases from male and female individuals. The chromosomes were amplified via PRINS, and subcentromeric fragments of the X chromosome were microdissected using microneedles coupled to a phase contrast microscope...
December 7, 2017: Anais da Academia Brasileira de Ciências
https://www.readbyqxmd.com/read/29229435/developmental-and-cytogenetic-assessments-of-preimplantation-embryos-derived-from-in-vivo-or-in-vitro-matured-human-oocytes
#18
Farzaneh Fesahat, Seyed Mehdi Kalantar, Mohammad Hasan Sheikhha, Hojjatollah Saeedi, Fatemeh Montazeri, Razieh Dehghani Firouzabadi, Mohammad Ali Khalili
Aneuploidy is of great relevance to embryo selection, as it represents one of the important causes of implantation failure. Furthermore, immature oocytes, retrieved during gonadotrophin-stimulated IVF cycles, are generally discarded in clinics; whereas, there was no detectable comprehensive evidence on higher rates of aneuploidy based on maturity status on the day of oocyte retrieval. As well, the correlation between embryo morphology on aneuploidy remains unclear. The aim was to evaluate the developmental and genetic integrity of human preimplantation embryos from rescue in-vitro matured MII stage oocytes as well as in vivo matured oocytes...
December 8, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29224316/-effects-of-npm1-gene-expression-on-acute-myeloid-leukemia-cell-lines-and-its-mechanism
#19
S W Qiu, Y L Wan, M Wang, J X Wang
Objective: To investigate the impact and mechanism of NPM1 gene expression on acute myeloid leukemia (AML) cell lines. Methods: Human AML cell line U937 and HL-60 cells were transfected with NPM1 plasmid to establish stable clones, and the high NPM1 protein expression (NPM1(hi)) clones were screened by Western blot. The cell proliferation was assayed by methylthiazolyl tetrazolium bromide (MTT) , cell cycle and cell apoptosis by flow cytometric, cell colony formation by microscope count, the molecular pathways related to cell cycle by Western blot...
November 14, 2017: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/29199590/regulating-rna-binding-motif-5-gene-expression-a-novel-therapeutic-target-for-lung-cancer
#20
Venugopal Vinod Prabhu, Niranjali Devaraj
RNA-binding motif protein 5 (RBM5), also known as LUCA-15/H37, is a gene that maps to human chromosome 3p21.3, a critical region that is deleted in a large number of human cancers, of which the majority are lung cancers, and that is predicted to contain one or more tumor suppressor genes (TSGs). RBM5 is a tumor suppressor gene and is most frequently deleted at the earliest stage of lung cancer development. It represents a significant area of recent progress in cancer genomic, cytogenetic, and molecular biological research because of its role in the induction of cell cycle arrest and apoptosis and the regulation of inhibition of in lung cancer metastasis...
2017: Journal of Environmental Pathology, Toxicology and Oncology
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