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Aneuploidy

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https://www.readbyqxmd.com/read/28223544/hdac8-functions-in-spindle-assembly-during-mouse-oocyte-meiosis
#1
Kemei Zhang, Yajuan Lu, Chaohua Jiang, Wei Liu, Jing Shu, Xueqin Chen, Yingjiao Shi, Ensheng Wang, Li Wang, Qinbo Hu, Yibo Dai, Bo Xiong
HDAC8 is a class I histone deacetylase that functions in a variety of biological processes through its non-histone substrates. However, its roles during oocyte meiosis remain elusive. Here, we document that HDAC8 localizes at spindle poles and positively participates in the regulation of microtubule organization and spindle assembly in mouse oocytes. Depletion of HDAC8 by siRNA-based gene silencing results in various spindle defects and chromosome misalignment during oocyte meiotic maturation, accompanied by impaired kinetochore-microtubule attachments...
February 16, 2017: Oncotarget
https://www.readbyqxmd.com/read/28223384/tolerance-to-caspofungin-in-candida-albicans-is-associated-with-at-least-three-distinctive-mechanisms-that-govern-expression-of-fks-genes-and-cell-wall-remodeling
#2
Feng Yang, Lulu Zhang, Hironao Wakabayashi, Jason Myers, Yuanying Jiang, Yongbing Cao, Cristina Jimenez-Ortigosa, David S Perlin, Elena Rustchenko
Expanding echinocandin use to prevent or treat invasive fungal infections has led to an increase in the number of breakthrough infections due to resistant Candida species. Although uncommon, echinocandin resistance is well documented for Candida albicans, which is among the most prevalent bloodstream organisms. A better understanding is needed to assess the cellular factors that promote tolerance and predispose infecting cells for clinical breakthrough. We have previously showed that some mutants adapted to growth in the presence of toxic sorbose due to loss of one chromosome 5 (Ch5) also became more tolerant to caspofungin...
February 21, 2017: Antimicrobial Agents and Chemotherapy
https://www.readbyqxmd.com/read/28218773/risk-factors-for-birth-defects
#3
Benjamin S Harris, Katherine C Bishop, Hanna R Kemeny, Jennifer S Walker, Eleanor Rhee, Jeffrey A Kuller
Importance: Major congenital abnormalities, or birth defects, carry significant medical, surgical, cosmetic, or lifestyle consequences. Such abnormalities may be syndromic, involving multiple organ systems, or can be isolated. Overall, 2% to 4% of live births involve congenital abnormalities. Risk factors for birth defects are categorized as modifiable and nonmodifiable. Modifiable risk factors require thorough patient education/counseling. The strongest risk factors, such as age, family history, and a previously affected child, are usually nonmodifiable...
February 2017: Obstetrical & Gynecological Survey
https://www.readbyqxmd.com/read/28218256/biomarkers-aneuploidy-and-immune-evasion-a-biomarker-of-response
#4
Lisa Hutchinson
No abstract text is available yet for this article.
February 20, 2017: Nature Reviews. Clinical Oncology
https://www.readbyqxmd.com/read/28216909/aneuploidy-screening-by-array-comparative-genomic-hybridization-improves-success-rates-of-in-vitro-fertilization-a-multicenter-indian-study
#5
Aditi Kotdawala, Deven Patel, Javier Herrero, Rajni Khajuria, Nalini Mahajan, Manish Banker
OBJECTIVE: To evaluate the usefulness of preimplantation genetic screening (PGS) using array comparative genomic hybridization (aCGH) in the Indian population. MATERIALS AND METHODS: This is a retrospective, multicenter study including 235 PGS cycles following intracytoplasmic sperm injection performed at six different infertility centers from September 2013 to June 2015. Patients were divided as per maternal age in several groups (<35, 35-36, 37-38, 39-40, and >40 years) and as per indication for undergoing PGS...
October 2016: Journal of Human Reproductive Sciences
https://www.readbyqxmd.com/read/28210640/muscle-weakness-a-misleading-presentation-in-children-with-distinctive-syndromic-entities-clinical-case-reports
#6
Ali Al Kaissi, Sergey Ryabykh, Polina Ochirova, Vladimir Kenis, Jochen G Hofstätter, Franz Grill, Rudolf Ganger, Susanne Gerit Kircher
Marked ligamentous hyperlaxity and muscle weakness/wasting associated with awkward gait are the main deficits confused with the diagnosis of myopathy. Seven children (6 boys and 1 girl with an average age of 8 years) were referred to our department because of diverse forms of skeletal abnormalities. No definitive diagnosis was made, and all underwent a series of sophisticated investigations in other institutes in favor of myopathy. We applied our methodology through the clinical and radiographic phenotypes followed by targeted genotypic confirmation...
January 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28207933/chorionic-villus-sampling-in-the-cell-free-dna-aneuploidy-screening-era-careful-selection-criteria-can-maximise-the-clinical-utility-of-screening-and-invasive-testing
#7
Stefan C Kane, Karen L Reidy, Fiona Norris, Deborah L Nisbet, Louise H Kornman, Ricardo Palma-Dias
OBJECTIVES: To quantify the impact of cell-free DNA (cfDNA) screening on chorionic villus sampling (CVS) test indications and outcomes in a tertiary maternity service. METHODS: Retrospective cohort study of all CVS procedures performed for any indication on singleton pregnancies at The Royal Women's Hospital, Melbourne, and at Women's Ultrasound Melbourne, Australia, between August 2008 and February 2015. Karyotypes were classified according to pathogenicity and detectability by standard cell-free DNA screening panels...
February 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28206709/women-who-choose-cfdna-testing-should-not-be-denied-1-st-trimester-anatomy-scan
#8
Zarko Alfirevic, Catia M Bilardo, Laurent J Salomon, Ann Tabor
It is important to acknowledge that modern antenatal care includes a variety of screening programmes. Each of them should be evaluated in their own right and, when clinical effectiveness is proven, integrated in the antenatal care in the most cost-effective fashion. Screening for common aneuploidies and fetal anomalies are two such programmes which are routinely offered world-wide. Both screening programmes include components that interact with each other which leads to a considerable confusion in the debate about their evaluation and implementation...
February 16, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28205220/comprehensive-genome-profiling-of-single-sperm-cells-by-multiple-annealing-and-looping-based-amplification-cycles-and-next-generation-sequencing-from-carriers-of-robertsonian-translocation
#9
Yanwei Sha, Yankun Sha, Zhiyong Ji, Lu Ding, Qing Zhang, Honggen Ouyang, Shaobin Lin, Xu Wang, Lin Shao, Chong Shi, Ping Li, Yueqiang Song
Robertsonian translocation (RT) is a common cause for male infertility, recurrent pregnancy loss, and birth defects. Studying meiotic recombination in RT-carrier patients helps decipher the mechanism and improve the clinical management of infertility and birth defects caused by RT. Here we present a new method to study spermatogenesis on a single-gamete basis from two RT carriers. By using a combined single-cell whole-genome amplification and sequencing protocol, we comprehensively profiled the chromosomal copy number of 88 single sperms from two RT-carrier patients...
March 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28199687/translational-compensation-of-gene-copy-number-alterations-by-aneuploidy-in-drosophila-melanogaster
#10
Zhenguo Zhang, Daven C Presgraves
No abstract text is available yet for this article.
February 13, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28196921/noninvasive-prenatal-screening-of-fetal-aneuploidy-without-massively-parallel-sequencing
#11
Chenming Xu, Ting Wang, Chao Liu, Hong Li, Xiaoyan Chen, Huanhuan Zhu, Songchang Chen, Qiuhong Xin, Jing Tao, Liming Huang, Zhengwen Jiang
BACKGROUND: Noninvasive prenatal screening (NIPS) using plasma cell-free DNA has gained tremendous popularity in the clinical assessment of fetal aneuploidy. Most, if not all, of these tests rely on complex and expensive massively parallel sequencing (MPS) techniques, hindering the use of NIPS as a common screening procedure. METHODS: We have developed and optimized an MPS-independent noninvasive genetic test that can rapidly detect fetal aneuploidy at considerably lower costs...
February 14, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28196590/singling-out-chromosome-gains-in-tumor-evolution
#12
Ryan M Naylor, Jan M van Deursen
In this issue of Cancer Cell, Sheltzer et al. shed new light on Theodor Boveri's century-old hypothesis by demonstrating that aneuploidy characterized by single-chromosome gains acts to suppress tumorigenesis and that aneuploidy itself is a nidus for genomic instability.
February 13, 2017: Cancer Cell
https://www.readbyqxmd.com/read/28193732/error-prone-meiotic-division-and-subfertility-in-mice-with-oocyte-conditional-knockdown-of-pericentrin
#13
Claudia Baumann, Xiaotian Wang, Luhan Yang, Maria M Viveiros
Mouse oocytes lack canonical centrosomes and instead contain unique acentriolar microtubule-organizing centers (aMTOCs). To test the function of these distinct aMTOCs in meiotic spindle formation -Pericentrin (Pcnt), an essential centrosome/MTOC protein, was knocked down exclusively in oocytes using transgenic RNAi. Here we provide evidence that disruption of aMTOC function in oocytes promotes spindle instability and severe meiotic errors that lead to pronounced female subfertility. Pcnt-depleted oocytes from transgenic (Tg) mice are ovulated at metaphase-II, but show significant chromosome misalignment, aneuploidy and premature sister chromatid separation...
February 13, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28193315/survivin-protects-fused-cancer-cells-from-massive-cell-death
#14
Mihyang Do, In-Hae Kwak, Ju-Hyun Ahn, In Jeong Lee, Jae-Ho Lee
Tetraploidy, a potential precursor of cancer-associated aneuploidy, is produced either by cell fusion or cytokinesis failure. Here, we used low p53-expressing HeLa cells to address the fate of cancer cells after fusion. We found that massive cell death or growth arrest occurred a few days after fusion. Interestingly, cells with larger nuclei preferentially died after fusion, suggesting that a larger deviation of DNA content is a strong inducer of apoptosis. Notably, a fraction of cells escaped cell death. It turned out that the stability of survivin was increased, and its localization changed preferentially to the cytosol in fused cells...
February 14, 2017: BMB Reports
https://www.readbyqxmd.com/read/28192554/using-patient-centered-care-after-a-prenatal-diagnosis-of-trisomy-18-or-trisomy-13-a-review
#15
Shelly Haug, Mitchell Goldstein, Denise Cummins, Elba Fayard, T Allen Merritt
Importance: Patient-centered care (PCC) has been advocated by the Institute of Medicine to improve health care in the United States. Four concepts of PCC align with clinical ethics principles and are associated with enhanced patient/parent satisfaction. These concepts are dignity and respect, information sharing, participation, and collaboration. The objective of this article is to use the PCC approach as a framework for an extensive literature review evaluating the current status of counseling regarding prenatal diagnosis of trisomy 18 (T18) or trisomy 13 (T13) and to advocate PCC in the care of these infants...
February 13, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28188593/re-analysis-of-aneuploidy-blastocysts-with-an-inner-cell-mass-and-different-regional-trophectoderm-cells
#16
Jin Huang, Liying Yan, Sijia Lu, Nan Zhao, Jie Qiao
PURPOSE: The purpose of this study is to explore which part of the trophectoderm best represents the inner cell mass after aCGH analysis. METHODS: Fifty-one preimplantation genetic diagnosis/preimplantation genetic screening of abnormal blastocysts diagnosed by array comparative genomic hybridization were included in this study. Blastocysts were thawed, incubated for 3 to 4 h, and then biopsied. Four regions were biopsied per blastocyst, including the inner cell mass (ICM), trophectoderm (TE) cells opposite the ICM, TE cells at the upper right of the ICM, and TE cells at the lower right of the ICM...
February 10, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28184042/tumorigenesis-fitness-penalties-of-aneuploidy
#17
Sarah Seton-Rogers
No abstract text is available yet for this article.
March 2017: Nature Reviews. Cancer
https://www.readbyqxmd.com/read/28182359/fluorescence-in-situ-hybridization-with-the-urovysion-kit-for-the-detection-of-biliary-cancer-in-chinese-patients
#18
Xi Wu, Xuan Zeng, Aiming Yang, Fang Yao, Tao Guo, Dongsheng Wu, Shafei Wu, Hongmei Qiu, Weixun Zhou, Zhen Huo, Xinghua Lu, Jiaming Qian
BACKGROUND: Conventional biliary brush via ERCP has low clinical detection for biliary malignancy. Therefore, new approaches are needed to facilitate diagnosis. We therefore explored the application of fluorescent in situ hybrization (FISH) using a UroVysion kit for the detection of malignancy in the bile duct. METHODS: Genetic alterations of target chromosomes such as aneuploidy in Chinese biliary cancer cell lines and tissues were measured using a UroVysion kit...
February 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28180146/-i-think-we-ve-got-too-many-tests-prenatal-providers-reflections-on-ethical-and-clinical-challenges-in-the-practice-integration-of-cell-free-dna-screening
#19
B L Gammon, S A Kraft, M Michie, M Allyse
BACKGROUND: The recent introduction of cell-free DNA-based non-invasive prenatal screening (cfDNA screening) into clinical practice was expected to revolutionize prenatal testing. cfDNA screening for fetal aneuploidy has demonstrated higher test sensitivity and specificity for some conditions than conventional serum screening and can be conducted early in the pregnancy. However, it is not clear whether and how clinical practices are assimilating this new type of testing into their informed consent and counselling processes...
July 2016: Ethics, Medicine, and Public Health
https://www.readbyqxmd.com/read/28177839/phylogenetic-relationships-among-low-ploidy-poa-species-using-chloroplast-sequences
#20
Alpana Joshi, Shaun Bushman, Brandon D Pickett, Matthew Darwin Robbins, Jack Staub, Paul G Johnson
Species in the Poa genus are taxonomically and genetically difficult to delineate due to high and variable polyploidy, aneuploidy, and challenging breeding systems. Approximately 5% of the proposed species in Poa are considered to include or comprise diploids, but very few of those diploids are represented in seed collections. Recent phylogenetic studies of Poa have included some diploid species to elucidate Poa genome relationships. In this study we build upon that foundation of diploid Poa relationships with additional confirmed diploid species and accessions, and with additional chloroplast sequences...
November 23, 2016: Genome Génome / Conseil National de Recherches Canada
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