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https://www.readbyqxmd.com/read/29776991/inversion-variants-in-human-and-primate-genomes
#1
Claudia Rita Catacchio, Flavia Angela Maria Maggiolini, Pietro D'Addabbo, Miriana Bitonto, Oronzo Capozzi, Martina Lepore Signorile, Mattia Miroballo, Nicoletta Archidiacono, Evan E Eichler, Mario Ventura, Francesca Antonacci
For many years, inversions have been proposed to be a direct driving force in speciation since they suppress recombination when heterozygous. Inversions are the most common large-scale differences among humans and great apes. Nevertheless, they represent large events easily distinguishable by classical cytogenetics, whose resolution, however, is limited. Here, we performed a genome-wide comparison between human, great ape, and macaque genomes using the net alignments for the most recent releases of genome assemblies...
May 18, 2018: Genome Research
https://www.readbyqxmd.com/read/29776632/molecular-diagnosis-of-hematopoietic-neoplasms-2018-update
#2
REVIEW
Radhakrishnan Ramchandren, Tarek Jazaerly, Martin H Bluth, Ali M Gabali
Diagnosis of hematologic malignancies have matured to encompass molecular as well as phenotypic characteristics. Cytogenetic abnormalities are considered common events in this regard. These abnormalities generally consist of structural chromosomal abnormalities or gene mutations, which often are integral to the pathogenesis and subsequent evolution of an individual malignancy. Improvements made in identifying and interpreting these molecular alterations have resulted in advances in the diagnosis, prognosis, monitoring, and therapy for cancer...
June 2018: Clinics in Laboratory Medicine
https://www.readbyqxmd.com/read/29775402/a-note-on-poisson-goodness-of-fit-tests-for-ionizing-radiation-induced-chromosomal-aberration-samples
#3
Manuel Higueras, J E González, Marina Di Giorgio, J F Barquinero
PURPOSE: To present Poisson exact goodness-of-fit tests as alternatives and complements to the asymptotic u-test, which is the most widely used in cytogenetic biodosimetry, to decide whether a sample of chromosomal aberrations in blood cells comes from an homogeneous or inhomogeneous exposure. MATERIALS AND METHODS: Three Poisson exact goodness-of-fit test from the literature are introduced and implemented in the R environment. A Shiny R Studio application, named GOF Poisson, has been updated for the purpose of giving support to this work...
May 18, 2018: International Journal of Radiation Biology
https://www.readbyqxmd.com/read/29774518/huh-7-reference-genome-profile-complex-karyotype-composed-of-massive-loss-of-heterozygosity
#4
Fumio Kasai, Noriko Hirayama, Midori Ozawa, Motonobu Satoh, Arihiro Kohara
Human cell lines represent a valuable resource as in vitro experimental models. A hepatoma cell line, HuH-7 (JCRB0403), has been used extensively in various research fields and a number of studies using this line have been published continuously since it was established in 1982. However, an accurate genome profile, which can be served as a reliable reference, has not been available. In this study, we performed M-FISH, SNP microarray and amplicon sequencing to characterize the cell line. Single cell analysis of metaphases revealed a high level of heterogeneity with a mode of 60 chromosomes...
May 17, 2018: Human Cell
https://www.readbyqxmd.com/read/29773593/safety-and-efficacy-of-second-line-bosutinib-for-chronic-phase-chronic-myeloid-leukemia-over-a-five-year-period-final-results-of-a-phase-1-2-study
#5
Carlo Gambacorti-Passerini, Jorge E Cortes, Jeff H Lipton, Hagop M Kantarjian, Dong-Wook Kim, Philippe Schafhausen, Rocco Crescenzo, Nathalie Bardy-Bouxin, Mark Shapiro, Kay Noonan, Eric Leip, Liza DeAnnuntis, Tim H Brümmendorf, H Jean Khoury
Bosutinib is a Src/Abl tyrosine kinase inhibitor indicated for adults with newly-diagnosed Ph+ chronic myeloid leukemia or with resistant/intolerant disease. We report the final results of a phase 1/2 study of second-line bosutinib in chronic phase chronic myeloid leukemia patients after imatinib failure (n=284). Median follow-up and treatment durations were 54.8 (range, 0.6-96.3) and 25.6 (0.2&-96.3) months, respectively. At years 2 and 5, 54% and 40% of patients, respectively, remained on bosutinib. Cumulative major cytogenetic response and complete cytogenetic response rates (newly-attained or maintained from baseline) were 58% and 46%, respectively, by year 2 and 60% and 50% by year 5...
May 17, 2018: Haematologica
https://www.readbyqxmd.com/read/29768882/grape-seed-extract-alone-or-combined-with-atropine-in-treatment-of-malathion-induced-neuro-and-genotoxicity
#6
Omar M E Abdel-Salam, Asmaa F Galal, Mahrousa M Hassanane, Lamiaa M Salem, Somaia A Nada, Fatma A Morsy
The aim of this study was to investigate the effect of treatment with grape seed extract (GSE) on the neurotoxic and genotoxic effects of acute malathion exposure. Rats received malathion (150 mg/kg by i.p. injection) for two successive days alone or combined with GSE at doses of 150 or 300 mg/kg, orally or with GSE at 300 mg/kg and atropine at a dose of 2 mg/kg, i.p. Malondialdehyde (MDA), reduced glutathione (GSH), nitric oxide, paraoxonase (PON1) were determined in cortex, striatum, and rest of brain tissue (subcortex)...
January 1, 2018: Journal of Nanoscience and Nanotechnology
https://www.readbyqxmd.com/read/29768880/tio%C3%A2-nps-induce-dna-damage-in-lymphocytes-from-healthy-individuals-and-patients-with-respiratory-diseases-an-ex-vivo-in-vitro-study
#7
Ilham F Osman, Mojgan Najafzadeh, Vyom Sharma, Ritesh K Shukla, B K Jacob, Alok Dhawan, D Anderson
Little is known of the effects of nanoparticles in human systems, let alone in diseased individuals and nanotechnology has preceded nanotoxicology. Therefore, the effects of titanium dioxide (TiO2) nanoparticles in peripheral blood lymphocytes from patients with respiratory diseases [lung cancer, chronic obstructive pulmonary disease (COPD) and asthma] were compared with those in healthy Individuals, to determine differences in sensitivity to nanochemical insult. The Comet assay was performed according to recommended guidelines...
January 1, 2018: Journal of Nanoscience and Nanotechnology
https://www.readbyqxmd.com/read/29768410/correction-u87mg-decoded-the-genomic-sequence-of-a-cytogenetically-aberrant-human-cancer-cell-line
#8
Michael James Clark, Nils Homer, Brian D O'Connor, Zugen Chen, Ascia Eskin, Hane Lee, Barry Merriman, Stanley F Nelson
[This corrects the article DOI: 10.1371/journal.pgen.1000832.].
May 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29768052/options-for-treating-different-soft-tissue-sarcoma-subtypes
#9
Isabelle Ray-Coquard, Delphine Serre, Peter Reichardt, Javier Martín-Broto, Sebastian Bauer
Management of soft tissue sarcoma is increasingly subtype-dependent. Surgery is recommended for uterine leiomyosarcoma, with trabectedin being the preferred option for advanced disease when the treatment goal is long-term tumor stabilization. Liposarcoma subgroups are characterized by distinctive morphologies and genetics, different patterns of disease progression and clinical behavior, and variable responses to treatment. Genetic analysis of sarcomas has provided insights into pathogenesis with potential for developing new molecular targets...
May 2018: Future Oncology
https://www.readbyqxmd.com/read/29767679/recurrent-cytogenetic-abnormalities-in-intravascular-large-b-cell-lymphoma
#10
Matthew M Klairmont, Jinjun Cheng, Mike G Martin, Joel F Gradowski
Objectives: Data characterizing the cytogenetic landscape of intravascular large B-cell lymphoma (ILBCL) are limited. Here, we developed a comprehensive karyotypic data set to identify recurrent cytogenetic abnormalities in ILBCL. Methods: Cases of ILBCL with complete cytogenetic analysis were identified from an institutional database and the literature. The combined data were systematically reviewed for the presence of recurrent abnormalities. Results: Four new cases were identified and combined with 25 karyotypes previously published in the literature...
May 14, 2018: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/29766829/acute-myeloid-leukemia-diagnosis-and-management-based-on-current-molecular-genetics-approach
#11
E Suguna, R Farhana, E Kanimozhi, P SaiKumar, G Kumaramanickavel, Chitralekha Sai Kumar
Background &Objective: Acute myeloid leukemia (AML) is characterized by accumulation of ?20% myeloid premature blast cells in the bone marrow and most often found in the peripheral blood. AML is generally classified based on two groups, namely, French-American-British (FAB) and World Health Organization (WHO) systems. For better clinical management, cytogenetic findings in AML are necessary and in patients with normal karyotypes, molecular analysis becomes critical. Mutations of certain genes like Nucleophosmin 1gene (NPM1), Fms-related Tyrosine Kinase 3 (FLT3), CCAAT/Enhancer Binding Protein Alpha (CEBPA), Runt-related transcription factor 1(RUNX1), and Mixed Lineage Leukemia (MLL) play a crucial role in the risk management and clinical stratification of AML patients...
May 15, 2018: Cardiovascular & Hematological Disorders Drug Targets
https://www.readbyqxmd.com/read/29766145/basic-and-clinical-genetic-studies-on-male-infertility-in-iran-during-2000-2016-a-review
#12
REVIEW
Sahar Moghbelinejad, Hossein Mozdarania, Pegah Ghoraeian, Reihaneh Asadi
The male factor contributes to 50% of infertility. The cause of male infertility is idiopathic and could be congenital or acquired. Among different factors which are involved in idiopathic male infertility, genetic factors are the most prevalent causes of the disease. Considering, the high prevalence of male infertility in Iran and the importance of genetic factors in the accession of it, in this article we reviewed the various studies which have been published during the last 17 yr on the genetic basis of male infertility in Iran...
March 2018: International Journal of Reproductive Biomedicine (Yazd, Iran)
https://www.readbyqxmd.com/read/29761706/genotoxic-and-cytotoxic-effects-of-haas-appliance-in-exfoliated-buccal-mucosa-cells-during-orthodontic-treatment
#13
Arthur S Cunha, Willian Orlando Castillo, Catarina Satie Takahashi, Erika Calvano Küchler, Raquel Assed Bezerra Segato, Léa Assed Bezerra da Silva, Fábio Lourenço Romano, Mírian Aiko Nakane Matsumoto, Paulo Nelson-Filho
OBJECTIVES: To evaluate the genotoxic and cytotoxic effects of Haas appliances through micronuclei test and cytogenetic damage analysis in buccal mucosa epithelial cells of patients undergoing orthodontic treatment. MATERIALS AND METHODS: Twenty-eight patients, 6-12 years of age and of both genders, who required a Haas appliance for the correction of a posterior crossbite were included. Epithelial cells from the mucosa were collected by gently scraping the inside of both the right and left cheeks...
May 15, 2018: Angle Orthodontist
https://www.readbyqxmd.com/read/29761423/advanced-parental-age-as-risk-factor-for-childhood-acute-lymphoblastic-leukemia-results-from-studies-of-the-childhood-leukemia-international-consortium
#14
Eleni Th Petridou, Marios K Georgakis, Friederike Erdmann, Xiaomei Ma, Julia E Heck, Anssi Auvinen, Beth A Mueller, Logan G Spector, Eve Roman, Catherine Metayer, Corrado Magnani, Maria S Pombo-de-Oliveira, Sameera Ezzat, Michael E Scheurer, Ana Maria Mora, John D Dockerty, Johnni Hansen, Alice Y Kang, Rong Wang, David R Doody, Eleanor Kane, Waffa M Rashed, Nick Dessypris, Joachim Schüz, Claire Infante-Rivard, Alkistis Skalkidou
Advanced parental age has been associated with adverse health effects in the offspring including childhood (0-14 years) acute lymphoblastic leukemia (ALL), as reported in our meta-analysis of published studies. We aimed to further explore the association using primary data from 16 studies participating in the Childhood Leukemia International Consortium. Data were contributed by 11 case-control (CC) studies (7919 cases and 12,942 controls recruited via interviews) and five nested case-control (NCC) studies (8801 cases and 29,690 controls identified through record linkage of population-based health registries) with variable enrollment periods (1968-2015)...
May 14, 2018: European Journal of Epidemiology
https://www.readbyqxmd.com/read/29760782/an-improved-method-for-inducing-prometaphase-chromosomes-in-plants
#15
Agus Budi Setiawan, Chee How Teo, Shinji Kikuchi, Hidenori Sassa, Takato Koba
Background: Detailed karyotyping using metaphase chromosomes in melon ( Cucumis melo L.) remains a challenge because of their small chromosome sizes and poor stainability. Prometaphase chromosomes, which are two times longer and loosely condensed, provide a significantly better resolution for fluorescence in situ hybridization (FISH) than metaphase chromosomes. However, suitable method for acquiring prometaphase chromosomes in melon have been poorly investigated. Results: In this study, a modified Carnoy's solution II (MC II) [6:3:1 ( v /v) ethanol: acetic acid: chloroform] was used as a pretreatment solution to obtain prometaphase chromosomes...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29760780/derivative-chromosomes-involving-5p-large-rearranged-segments-went-unnoticed-with-the-use-of-conventional-cytogenetics
#16
Emiy Yokoyama, Victoria Del Castillo, Silvia Sánchez, Sandra Ramos, Bertha Molina, Leda Torres, María José Navarro, Silvia Avila, José Luis Castrillo, Benilde García-De Teresa, Bárbara Asch, Sara Frías
Background: In countries where comparative genomic hybridization arrays (aCGH) and next generation sequencing are not widely available due to accessibility and economic constraints, conventional 400-500-band karyotyping is the first-line choice for the etiological diagnosis of patients with congenital malformations and intellectual disability. Conventional karyotype analysis can rule out chromosomal alterations greater than 10 Mb. However, some large structural abnormalities, such as derivative chromosomes, may go undetected when the analysis is performed at less than a 550-band resolution and the size and banding pattern of the interchanged segments are similar...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29760778/loss-of-dmrt1-gene-in-a-mos-45-xy-9-8-46-xy-r-9-29-47-xy-idic-r-9-%C3%A3-2-1-46-xy-idic-r-9-1-46-xy-1-female-presenting-with-short-stature
#17
Bagas A Marsudi, Hannie Kartapradja, Chrysantine Paramayuda, Jose R L Batubara, Alida R Harahap, Nanis S Marzuki
Background: A 46,XY sex reversal syndrome is characterized by discordant genetic and phenotypic sex, leading to normal external female genitalia, undeveloped gonads and presence of Müllerian structures in an otherwise 46,XY individual. Chromosome 9pter aberrations, such as ring chromosome have been reported to cause 46,XY disorders of sex development (DSD), due to involvement of DMRT1 gene located at the 9p24.3 region. Case presentation: This study presents a unique case of a 12-year-old female with mos 46,XY, (r)9[31]/45,XY,-9[9] karyotype, presenting with intellectual disability and short stature, mimicking Turner syndrome...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29760601/tumor-cell-accelerated-senescence-is-associated-with-dna-pkcs-status-and-telomere-dysfunction-induced-by-radiation
#18
Miaomiao Zhang, Xiaopeng Guo, Yue Gao, Dong Lu, Wenjian Li
Whether telomere structure integrity is related to radiosensitivity is not well investigated thus far. In this study, we investigated the relation between telomere instability and radiation-induced accelerated senescence. Partial knockdown of DNA-dependent catalytic subunit of protein kinase (DNA-PKcs) in human breast cancer cell line MCF-7 was established by small interfering RNA. Radiosensitivity of control and DNA-PKcs knockdown MCF-7 cells was analyzed by clonogenetic assay. Cell growth was measured by real-time cell electronic sensing...
April 2018: Dose-response: a Publication of International Hormesis Society
https://www.readbyqxmd.com/read/29760015/novel-genomic-findings-in-multiple-myeloma-identified-through-routine-diagnostic-sequencing
#19
Georgina L Ryland, Kate Jones, Melody Chin, John Markham, Elle Aydogan, Yamuna Kankanige, Marisa Caruso, Jerick Guinto, Michael Dickinson, H Miles Prince, Kwee Yong, Piers Blombery
AIMS: Multiple myeloma is a genomically complex haematological malignancy with many genomic alterations recognised as important in diagnosis, prognosis and therapeutic decision making. Here, we provide a summary of genomic findings identified through routine diagnostic next-generation sequencing at our centre. METHODS: A cohort of 86 patients with multiple myeloma underwent diagnostic sequencing using a custom hybridisation-based panel targeting 104 genes. Sequence variants, genome-wide copy number changes and structural rearrangements were detected using an inhouse-developed bioinformatics pipeline...
May 14, 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/29759330/-who-classification-of-head-and-neck-tumours-2017-main-novelties-and-update-of-diagnostic-methods
#20
REVIEW
Victor Sarradin, Aurore Siegfried, Emmanuelle Uro-Coste, Jean-Pierre Delord
The publication of the new WHO classification of head and neck tumours in 2017 brought major modifications. Especially, a new chapter is dedicated to the oropharynx, focusing on the description of squamous cell carcinoma induced by the virus Human Papilloma Virus (HPV), and new entities of tumors are described in nasal cavities and sinuses. In this article are presented the novelties and main changes of this new classification, as well as the updates of the diagnostic methods (immunohistochemistry, cytogenetics or molecular biology)...
May 11, 2018: Bulletin du Cancer
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