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array comparative hybridization

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https://www.readbyqxmd.com/read/29032163/massively-parallel-sequencing-on-human-cleavage-stage-embryos-to-detect-chromosomal-abnormality
#1
Zhi Zhou, Yanlin Ma, Qi Li, Yu Zhang, Yuanhua Huang, Zhihua Tu, Ning Ma, Minghong Li, Jun Wang, Jian Li, Weiying Lu
PURPOSE: Next-generation sequencing technology like MPS has recently been introduced to perform comprehensive chromosome screening on human trophectoderm samples for preimplantation embryo assessment. However, the potential of MPS in chromosome analysis of single cell from blastomeres has not yet been investigated. METHODS: In this study, 12 couples underwent MPS analysis, including 9 balanced translocation carriers and 3 carriers of numerical chromosomal abnormalities...
October 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29030252/sub-clonal-analysis-of-the-murine-c1498-acute-myeloid-leukaemia-cell-line-reveals-genomic-and-immunogenic-diversity
#2
Virginie Driss, Frédéric Leprêtre, Isabelle Briche, Alexia Mopin, Céline Villenet, Martin Figeac, Bruno Quesnel, Carine Brinster
BACKGROUND: In acute myeloid leukaemia (AML)-affected patients, the presence of heterogeneous sub-clones at diagnosis has been shown to be responsible for minimal residual disease and relapses. The role played by the immune system in this leukaemic sub-clonal hierarchy and maintenance remains unknown. As leukaemic sub-clone immunogenicity could not be evaluated in human AML xenograft models, we assessed the sub-clonal diversity of the murine C1498 AML cell line and the immunogenicity of its sub-clones in immune-competent syngeneic mice...
October 10, 2017: Immunology Letters
https://www.readbyqxmd.com/read/29027306/fenton-reaction-induced-renal-carcinogenesis-in-mutyh-deficient-mice-exhibits-less-chromosomal-aberrations-than-the-rat-model
#3
Guang Hua Li, Shinya Akatsuka, Shan Hwu Chew, Li Jiang, Takahiro Nishiyama, Akihiko Sakamoto, Takashi Takahashi, Mitsuru Futakuchi, Hiromu Suzuki, Kunihiko Sakumi, Yusaku Nakabeppu, Shinya Toyokuni
Oxidative stress including iron excess has been associated with carcinogenesis. The level of 8-oxoguanine, a major oxidatively modified base in DNA, is maintained very low by three distinct enzymes, encoded by OGG1, MUTYH and MTH1. Germline biallelic inactivation of MUTYH represents a familial cancer syndrome called MUTYH-associated polyposis. Here, we used Mutyh-deficient mice to evaluate renal carcinogenesis induced by ferric nitrilotriacetate (Fe-NTA). Although the C57BL/6 background is cancer-resistant, a repeated intraperitoneal administration of Fe-NTA induced a high incidence of renal cell carcinoma (RCC; 26...
October 13, 2017: Pathology International
https://www.readbyqxmd.com/read/29027068/array-cgh-analysis-in-a-cohort-of-phenotypically-well-characterized-individuals-with-essential-autism-spectrum-disorders
#4
Eleonora Napoli, Serena Russo, Laura Casula, Viola Alesi, Filomena Alessandra Amendola, Adriano Angioni, Antonio Novelli, Giovanni Valeri, Deny Menghini, Stefano Vicari
Copy-number variants (CNVs) are associated with susceptibility to autism spectrum disorder (ASD). To detect the presence of CNVs, we conducted an array-comparative genomic hybridization (array-CGH) analysis in 133 children with "essential" ASD phenotype. Genetic analyses documented that 12 children had causative CNVs (C-CNVs), 29 children had non-causative CNVs (NC-CNVs) and 92 children without CNVs (W-CNVs). Results on clinical evaluation showed no differences in cognitive abilities among the three groups, and a higher number of ASD symptoms and of non-verbal children in the C-CNVs group compared to the W-CNVs and NC-CNVs groups...
October 12, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29025668/sustained-raloxifene-release-from-hyaluronan-alendronate-functionalized-titanium-nanotube-arrays-capable-of-enhancing-osseointegration-in-osteoporotic-rabbits
#5
Caiyun Mu, Yan Hu, Ling Huang, Xinkun Shen, Menghuan Li, Liqi Li, Hao Gu, Yonglin Yu, Zhining Xia, Kaiyong Cai
To enhance the localized bone remodeling at titanium-based implants under osteoporotic conditions, TiO2 nanotube arrays (TNT) were used as nanoreserviors for raloxifene (Ral) and then covered with the hybrid multilayered coating of chitosan and alendronate grafted hyaluronic acid (HA-Aln) via a spin-assisted layer-by-layer technique. The fabrication of this system (TNT/Ral/LBL-Aln) was characterized by field emission scanning electron microscopy (SEM), atomic force microscope (AFM) and X-ray photoelectron spectroscopy (XPS), respectively...
January 1, 2018: Materials Science & Engineering. C, Materials for Biological Applications
https://www.readbyqxmd.com/read/28990708/astroblastoma-a-distinct-tumor-entity-characterized-by-alterations-of-the-x-chromosome-and-mn1-rearrangement
#6
Takanori Hirose, Sumihito Nobusawa, Kazuhiko Sugiyama, Vishwa J Amatya, Naomi Fujimoto, Atsushi Sasaki, Yoshiki Mikami, Akiyoshi Kakita, Shinya Tanaka, Hideaki Yokoo
Astroblastoma is a rare, enigmatic tumor of the central nervous system (CNS) which shares some clinicopathologic aspects with other CNS tumors, especially ependymoma. To further clarify the nature of astroblastoma, we performed clinicopathologic and molecular genetic studies on eight cases of astroblastoma. The median age of the patients was 14.5 years, ranging from 5 to 60 years, and seven of the patients were female. All tumors arose in the cerebral hemisphere and radiologically appeared to be well-bordered, nodular tumors often associated with cystic areas and contrast-enhancement...
October 9, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28990060/microrna-expression-profiling-of-intestinal-mucosa-tissue-predicts-multiple-crucial-regulatory-molecules-and-signaling-pathways-for-gut-barrier-dysfunction-of-aids-patients
#7
Yu Xu, Hua-Wei Wang, Hua-You Luo, Ruo Shu, Jia Liu, Liang Sun, Xue-Fei Han, Na Lin, Ting-Hua Wang, Yu-Jian Zeng, Kun-Hua Wang
Human immunodeficiency virus‑1 (HIV‑1) infection severely damages the gut‑associated lymphoid tissue (GALT), the immune system and the gut barrier, which leads to accelerating the disease progression for patients with acquired immune deficiency syndrome (AIDS). Dysregulation of microRNAs (miRNAs) may contribute to this process. However, few studies have investigated the importance of miRNAs in AIDS pathogenesis and progression. The whole miRNA profile of patients with HIV infection from southwest P.R...
October 4, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28988928/preimplantation-genetic-screening-results-of-a-worldwide-web-based-survey
#8
Ariel Weissman, Gon Shoham, Zeev Shoham, Simon Fishel, Milton Leong, Yuval Yaron
Our objective was to evaluate and characterize the extent and patterns of worldwide usage of preimplantation genetic screening (PGS) among the assisted reproductive technique community. A prospective, web-based questionnaire with questions relating to practices of, and views on, PGS was directed to users and non-users of PGS. A total of 386 IVF units from 70 countries conducting 342,600 IVF cycles annually responded to the survey. A total of 77% of respondents routinely carry out PGS in their clinics for a variety of indications: advanced maternal age (27%), recurrent implantation failure (32%) and recurrent pregnancy loss (31%)...
September 21, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28988271/bridging-the-gap-from-prenatal-karyotyping-to-whole-genome-array-comparative-genomic-hybridization-in-hong-kong-survey-on-knowledge-and-acceptance-of-health-care-providers-and-pregnant-women
#9
Hiu Yee Heidi Cheng, Anita Sik-Yau Kan, Pui Wah Hui, Chin Peng Lee, Mary Hoi Yin Tang
PURPOSE: The use of array comparative genomic hybridization (aCGH) has been increasingly widespread. The challenge of integration of this technology into prenatal diagnosis was the interpretation of results and communicating findings of unclear clinical significance. This study assesses the knowledge and acceptance of prenatal aCGH in Hong Kong obstetricians and pregnant women. The aim is to identify the needs and gaps before implementing the replacement of karyotyping with aCGH. Questionnaires with aCGH information in the form of pamphlets were sent by post to obstetrics and gynecology doctors...
October 7, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28988007/chromosome-copy-number-variation-in-telomerized-human-bone-marrow-stromal-cells-insights-for-monitoring-safe-ex-vivo-expansion-of-adult-stem-cells
#10
Jorge S Burns, Linda Harkness, Abdullah Aldahmash, Laurent Gautier, Moustapha Kassem
Adult human bone marrow stromal cells (hBMSC) cultured for cell therapy require evaluation of potency and stability for safe use. Chromosomal aberrations upsetting genomic integrity in such cells have been contrastingly described as "Limited" or "Significant". Previously reported stepwise acquisition of a spontaneous neoplastic phenotype during three-year continuous culture of telomerized cells (hBMSC-TERT20) didn't alter a diploid karyotype measured by spectral karyotype analysis (SKY). Such screening may not adequately monitor abnormal and potentially tumorigenic hBMSC in clinical scenarios...
September 25, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28987789/female-age-serum-antim%C3%A3-llerian-hormone-level-and-number-of-oocytes-affect-the-rate-and-number-of-euploid-blastocysts-in-in%C3%A2-vitro-fertilization-intracytoplasmic-sperm-injection-cycles
#11
Antonio La Marca, Maria Giulia Minasi, Giovanna Sighinolfi, Pierfrancesco Greco, Cindy Argento, Valentina Grisendi, Francesco Fiorentino, Ermanno Greco
OBJECTIVE: To study the relative role of female age and ovarian reserve, measured through serum antimüllerian hormone (AMH) in determining the rate and number of euploid blastocysts in in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) cycles. DESIGN: Retrospective analysis of cycles performed in 2014-2015. SETTING: Tertiary referral IVF center. PATIENT(S): A total of 578 infertile couples undergoing IVF/ICSI and preimplantation genetic screening (PGS) analysis...
October 4, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28982142/optimal-timing-of-blastocyst-vitrification-after-trophectoderm-biopsy-for-preimplantation-genetic-screening
#12
Hsiu-Hui Chen, Chun-Chia Huang, En-Hui Cheng, Tsung-Hsien Lee, Lee-Feng Chien, Maw-Sheng Lee
Is the timing of vitrification after trophectoderm (TE) biopsy associated with successful implantation and pregnancy after the embryo transfer of blastocysts subjected to preimplantation genetic screening (PGS)? In this retrospective cohort study, 1329 blastocysts from 223 patients were subjected to TE biopsy for performing array comparative genomic hybridization (CGH) tests. The PGS and frozen blastocyst transfer (FET) cycles were performed from December 2012 to May 2015. Only the good quality and expanded blastocysts on day 5 or 6 were selected for biopsy...
2017: PloS One
https://www.readbyqxmd.com/read/28981941/-prenatal-diagnosis-and-genetic-analysis-of-a-fetus-with-6q27-microdeletion
#13
Dong Wu, Weili Shi, Hongdan Wang, Qiaofang Hou, Hui Zhang, Tao Li, Chaoyang Zhang, Yanli Yang, Shixiu Liao
OBJECTIVE: To determine the origin and pathogenicity of a chromosomal aberration for a fetus and analyze the possible mechanism. METHODS: The karotypes of the fetus and its parents were analyzed with routine G-banding. Their genomic DNA was also analyzed with array comparative genomic hybridization (aCGH). RESULTS: No karyotypic abnormality was detected at cytogenetic level for the fetus and its parents. aCGH has identified a de novo 2.04 Mb deletion at 6q27 in the fetus...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28981936/-phenotypic-and-genetic-analysis-of-a-child-carrying-a-17q11-2-microdeletion
#14
Hongdan Wang, Zhanqi Feng, Ke Yang, Yue Gao, Xiaodong Huo, Litao Qin, Guiyu Lou
OBJECTIVE: To analyze a child with facial abnormalities with combined cytogenetic and molecular techniques and delineate its clinical phenotype. METHODS: Neuropsychological profile of the child was analyzed. Color Doppler, CT and MRI were used for detecting the nodules in the body. Conventional peripheral blood karyotypes of the child and his parents were analyzed with G-banding. Array-comparative genomic hybridization (aCGH) was performed to detect minor structural chromosomal abnormalities...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28981935/-application-of-array-comparative-genomic-hybridization-analysis-for-fetuses-with-growth-anomalies
#15
Lin Wang, Xiaobin Wang, Na Cai, Bin He, Qiuhua Wu, Wei Li, Liping Zhang, Xiaoping Ma, Rong Qiang
OBJECTIVE: To explore the genetic etiology for fetuses featuring intrauterine growth anomalies using array-based comparative genomic hybridization (aCGH). METHODS: Forty-nine fetuses were enrolled in this study. Genomic DNA of the abortive tissues was analyzed with aCGH. RESULTS: Fourteen (28.6%) samples were found with chromosomal aberrations, which included 8 chromosomal aneuploidies and 6 micro-aberrations (4 with known clinical pathogenecity and 2 with unknown clinical significance)...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28981930/-report-of-a-case-with-14q12-triplication-and-literature-review-for-foxg1-related-diseases
#16
Fangfang Wang, Rong Luo, Bin Zhou, Tao Yu, Xiaolu Chen
OBJECTIVE: To report on the first case with chromosome 14q12 triplication involving the FOXG1 gene. METHODS: The clinical, radiological and array-based comparative genomic hybridization (aCGH) data of a patient was analyzed, in addition with a literature review. RESULTS: The 9-year-old girl has suffered from severe psychomotor delay, infantile spasms, severe mental retardation, absent language, autistic spectrum disorders, impaired ambulation, poor functional hand use and microcephaly, which were considered as manifestation of FOXG1 related diseases...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28980632/printable-organometallic-perovskite-enables-large-area-low-dose-x-ray-imaging
#17
Yong Churl Kim, Kwang Hee Kim, Dae-Yong Son, Dong-Nyuk Jeong, Ja-Young Seo, Yeong Suk Choi, In Taek Han, Sang Yoon Lee, Nam-Gyu Park
Medical X-ray imaging procedures require digital flat detectors operating at low doses to reduce radiation health risks. Solution-processed organic-inorganic hybrid perovskites have characteristics that make them good candidates for the photoconductive layer of such sensitive detectors. However, such detectors have not yet been built on thin-film transistor arrays because it has been difficult to prepare thick perovskite films (more than a few hundred micrometres) over large areas (a detector is typically 50 centimetres by 50 centimetres)...
October 4, 2017: Nature
https://www.readbyqxmd.com/read/28977854/clinically-relevant-morphological-structures-in-breast-cancer-represent-transcriptionally-distinct-tumor-cell-populations-with-varied-degrees-of-epithelial-mesenchymal-transition-and-cd44-cd24-stemness
#18
Evgeny V Denisov, Nikolay A Skryabin, Tatiana S Gerashchenko, Lubov A Tashireva, Jochen Wilhelm, Mikhail A Buldakov, Aleksei A Sleptcov, Igor N Lebedev, Sergey V Vtorushin, Marina V Zavyalova, Nadezhda V Cherdyntseva, Vladimir M Perelmuter
Intratumor morphological heterogeneity in breast cancer is represented by different morphological structures (tubular, alveolar, solid, trabecular, and discrete) and contributes to poor prognosis; however, the mechanisms involved remain unclear. In this study, we performed 3D imaging, laser microdissection-assisted array comparative genomic hybridization and gene expression microarray analysis of different morphological structures and examined their association with the standard immunohistochemistry scorings and CD44(+)CD24(-) cancer stem cells...
September 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/28972428/sperm-dna-fragmentation-index-does-not-correlate-with-blastocyst-euploidy-rate-in-egg-donor-cycles
#19
Itai Gat, Nancy Li, Natalia Yasovich, Ran Antes, Valeriy Kuznyetsov, Khaled Zohni, Noga Fuchs Weizman, Clifford Librach
Sperm DNA fragmentation is a known etiology for male infertility. We evaluated the impact of sperm DNA fragmentation index (DFI) on blastocyst euploidy in IVF cycles with egg donors. This observational retrospective study, which was conducted in a university affiliated fertility clinic, included IVF-ICSI-pre-implantation Genetic Screening (PGS) egg donor cycles in which DFI was tested prior to IVF, between January 1st, 2014 and July 31st, 2016. Twenty-seven cycles with DFI > 15% were included in the study group and compared with 18 cycles of DFI < 15% within control group...
October 3, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28960030/gab2-amplification-in-squamous-cell-lung-cancer-of-non-smokers
#20
Yu Rang Park, Soo Hyeon Bae, Wonjun Ji, Eul Ju Seo, Jae Cheol Lee, Hyeong Ryul Kim, Se Jin Jang, Chang Min Choi
Lung squamous cell cancer (SCC) is typically found in smokers and has a very low incidence in non-smokers, indicating differences in the tumor biology of lung SCC in smokers and non-smokers. However, the specific mutations that drive tumor growth in non-smokers have not been identified. To identify mutations in lung SCC of non-smokers, we performed a genetic analysis using arrays comparative genomic hybridization (ArrayCGH). We analyzed 19 patients with lung SCC who underwent surgical treatment between April 2005 and April 2015...
November 2017: Journal of Korean Medical Science
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