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Aneuploidy

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https://www.readbyqxmd.com/read/28944967/risk-for-chromosomal-aberrations-in-apparently-isolated-intra-uterine-growth-restriction-a-systematic-review
#1
REVIEW
Lena Sagi-Dain, Amir Peleg, Shlomi Sagi
OBJECTIVE: To perform a systematic review examining the risk of chromosomal aberrations in apparently isolated intra-uterine growth restriction (IUGR). METHODS: Search was conducted by research librarian in five databases. By independent screening of 2894 references, two investigators selected original studies examining the risk of chromosomal aberrations in apparently isolated IUGR diagnosed at the second and third trimesters using ultrasound. We excluded studies describing IUGR combined with additional fetal anomalies detected by ultrasound and those where fetuses with structural anomalies or aneuploidy were not reported...
September 25, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28941128/the-influence-of-trisomy-21-on-facial-form-and-variability
#2
John M Starbuck, Theodore M Cole, Roger H Reeves, Joan T Richtsmeier
Triplication of chromosome 21 (trisomy 21) results in Down syndrome (DS), the most common live-born human aneuploidy. Individuals with DS have a unique facial appearance that can include form changes and altered variability. Using 3D photogrammatic images, 3D coordinate locations of 20 anatomical landmarks, and Euclidean Distance Matrix Analysis methods, we quantitatively test the hypothesis that children with DS (n = 55) exhibit facial form and variance differences relative to two different age-matched (4-12 years) control samples of euploid individuals: biological siblings of individuals with DS (n = 55) and euploid individuals without a sibling with DS (n = 55)...
September 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28940826/trichostatin-a-preferentially-reverses-the-upregulation-of-gene-expression-levels-induced-by-gain-of-chromosome-7-in-colorectal-cancer-cell-lines
#3
Floryne O Buishand, Eric Cardin, Yue Hu, Thomas Ried
Epithelial cancers are defined by a tumor-specific distribution of chromosomal aneuploidies that are maintained when cells metastasize and are conserved in cell lines derived from primary tumors. Correlations between genomic copy number and gene expression have been observed for different tumors including, colorectal (CRC), breast and pancreatic cancer. These ploidy-driven transcriptional deregulations are characterized by low-level expression changes of most genes on the affected chromosomes. The emergence of these aberrations at an early stage of tumorigenesis and the strong selection for the maintenance of these aneuploidies suggests that aneuploidy-dependent transcriptional deregulations might contribute to cellular transformation and maintenance of the malignant phenotype...
September 23, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28940600/chromosomal-aneuploidies-and-copy-number-variations-in-posterior-fossa-abnormalities-diagnosed-by-prenatal-ultrasonography
#4
Ting Lei, Jie-Ling Feng, Ying-Jun Xie, Hong-Ning Xie, Ju Zheng, And Mei-Fang Lin
OBJECTIVE: To explore the genetic aetiology of foetal posterior fossa abnormalities (PFAs). METHODS: This study involved cases of PFAs that were identified by prenatal ultrasonographic screening and confirmed postnatally between January 2012 and January 2016. Conventional cytogenetic analyses and chromosomal microarray analysis were performed, and chromosomal aneuploidies and copy number variations (CNVs) were identified. RESULTS: Among 74 cases included in this study, 8 were of of Blake's pouch cyst; 7, Dandy-Walker malformation; 11, vermian hypoplasia; 32, enlarged cisterna magna; and 16, cerebellar hypoplasia...
September 20, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28940399/capturing-chaotic-chromosomes-pairing-in-action
#5
Micka C Bertucci, Arunika Das, Harriet C Fitzgerald, Daniel E Goszczynski
Accurate chromosome segregation is critical for the formation of haploid gametes, and therefore healthy offspring. Errors in segregation result in aneuploidy, which increases exponentially with maternal age (Hassold and Hunt, 2001). Maternally aged mouse oocytes were recently found to exhibit premature sister chromatid separation due to reduced levels of Securin, an essential regulator of sister chromatid cohesion (Nabti et al, 2017). This article is protected by copyright. All rights reserved.
September 20, 2017: Molecular Reproduction and Development
https://www.readbyqxmd.com/read/28938744/an-improved-ivm-method-for-cumulus-oocyte-complexes-from-small-follicles-in-polycystic-ovary-syndrome-patients-enhances-oocyte-competence-and-embryo-yield
#6
F Sánchez, F Lolicato, S Romero, M De Vos, H Van Ranst, G Verheyen, E Anckaert, J E J Smitz
STUDY QUESTION: Are meiotic and developmental competence of human oocytes from small (2-8 mm) antral follicles improved by applying an optimized IVM method involving a prematuration step in presence of C-Type Natriuretic Peptide (CNP) followed by a maturation step in presence of FSH and Amphiregulin (AREG)? SUMMARY ANSWER: A strategy involving prematuration culture (PMC) in the presence of CNP followed by IVM using FSH + AREG increases oocyte maturation potential leading to a higher availability of Day 3 embryos and good-quality blastocysts for single embryo transfer...
October 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28938551/overexpression-of-ubiquitin-specific-proteases-44-promotes-the-malignancy-of-glioma-by-stabilizing-tumor-promoter-securin
#7
Yongxiang Zou, Guanzhong Qiu, Lei Jiang, Zheng Cai, Wei Sun, Hongkang Hu, Chengyin Lu, Weilin Jin, Guohan Hu
Ubiquitin specific peptidase 44 (USP44) has been identified as an important component of spindle assemble checkpoint (SAC) to prevent the formation of aneuploidy. However, recent study raised a controversy about the effect of USP44 in tumor. Here, we first confirmed the intranuclear localization of USP44 by testing several specific antibodies to recognize endogenous USP44. Then, data from IHC and qRT-PCR assay indicated that the high expression of USP44 existed in high-grade glioma tissues and signified a poor prognosis...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28935715/identification-of-the-centromeres-of-leishmania-major-revealing-the-hidden-pieces
#8
Maria-Rosa Garcia-Silva, Lauriane Sollelis, Cameron Ross MacPherson, Slavica Stanojcic, Nada Kuk, Lucien Crobu, Frédéric Bringaud, Patrick Bastien, Michel Pagès, Artur Scherf, Yvon Sterkers
Leishmania affects millions of people worldwide. Its genome undergoes constitutive mosaic aneuploidy, a type of genomic plasticity that may serve as an adaptive strategy to survive distinct host environments. We previously found high rates of asymmetric chromosome allotments during mitosis that lead to the generation of such ploidy. However, the underlying molecular events remain elusive. Centromeres and kinetochores most likely play a key role in this process, yet their identification has failed using classical methods...
September 21, 2017: EMBO Reports
https://www.readbyqxmd.com/read/28935366/review-diagnosis-and-impact-of-sperm-dna-alterations-in-assisted-reproduction
#9
REVIEW
Luke Simon, Benjamin R Emery, Douglas T Carrell
Sperm nuclear and chromatin abnormalities are common among infertile men and are known to influence natural reproduction. These abnormalities are also considered detrimental to normal fertilization, embryo development, and successful implantation and pregnancies following assisted reproductive treatment (ART). Abnormalities in the sperm nucleus can be broadly classified into sperm chromosomal abnormalities (aneuploidies) and sperm DNA abnormalities such as abnormal packing, DNA integrity, or DNA fragmentation...
August 2, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28931593/active-ran-regulates-anillin-function-during-cytokinesis
#10
Daniel Beaudet, Tara Akhshi, Julia Phillipp, Christopher Law, Alisa Piekny
Cytokinesis cleaves a cell into two daughters at the end of mitosis, and must be spatially coordinated with chromosome segregation to prevent aneuploidy. The dogma is that the mitotic spindle governs the assembly and constriction of an actomyosin ring. Here, we reveal a function for active Ran in spatially restricting the ring. Our model is that during anaphase, 'free' importins, whose gradient inversely correlates with active Ran and chromatin position, function as a molecular ruler for the recruitment and localization of anillin, a contractile protein and crucial regulator of cytokinesis...
September 20, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/28930371/polyhydramnios-frequency-of-congenital-anomalies-in-relation-to-the-value-of-the-amniotic-fluid-index
#11
Jakub Kornacki, Magdalena Adamczyk, Przemysław Wirstlein, Maciej Osiński, Ewa Wender-Ożegowska
OBJECTIVES: The aims of our study were to assess the correlation between the amniotic fluid index (AFI) value and the frequency and type of fetal anomalies. MATERIAL AND METHODS: The material included 94 patients at the third trimester of pregnancy, 60 with mild polyhydramnios, 19 with moderate one, and 15 with severe one. Polyhydramnios was diagnosed if AFI was > 24 cm. All patients were divided into three groups based on the value of AFI: 1) mild polyhydramnios with AFI between 24...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/28927533/from-sperm-to-offspring-assessing-the-heritable-genetic-consequences-of-paternal-smoking-and-potential-public-health-impacts
#12
REVIEW
Marc A Beal, Carole L Yauk, Francesco Marchetti
Individuals who smoke generally do so with the knowledge of potential consequences to their own health. What is rarely considered are the effects of smoking on their future children. The objective of this work was to review the scientific literature on the effects of paternal smoking on sperm and assess the consequences to offspring. A literature search identified over 200 studies with relevant data in humans and animal models. The available data were reviewed to assess the weight of evidence that tobacco smoke is a human germ cell mutagen and estimate effect sizes...
July 2017: Mutation Research
https://www.readbyqxmd.com/read/28927451/implementing-non-invasive-prenatal-testing-for-aneuploidy-in-a-national-healthcare-system-global-challenges-and-national-solutions
#13
Rachèl V van Schendel, Carla G van El, Eva Pajkrt, Lidewij Henneman, Martina C Cornel
BACKGROUND: Since the introduction of non-invasive prenatal testing (NIPT) in 2011, mainly by commercial companies, a growing demand for NIPT from the public and healthcare professionals has been putting pressure on the healthcare systems of various countries. This study identifies the challenges of establishing a responsible implementation of NIPT for aneuploidy in prenatal healthcare, by looking at the Netherlands. METHODS: A mixed methods approach involving 13 stakeholder interviews, document analysis and (participatory) observations of the Dutch NIPT Consortium meetings were used...
September 19, 2017: BMC Health Services Research
https://www.readbyqxmd.com/read/28925570/first-trimester-screening-based-on-ultrasound-and-cfdna-vs-first-trimester-combined-screening-a-randomized-controlled-study
#14
Karl Oliver Kagan, Fabrina Sroka, Jiri Sonek, Harald Abele, Kai Lüthgens, Maximilian Schmid, Philipp Wagner, Sara Brucker, Diethelm Wallwiener, Markus Hoopmann
OBJECTIVE: Prospective randomized trial to compare the performance of first trimester combined screening (FTCS) with an approach that uses the combination of a detailed ultrasound examination and cfDNA analysis. METHODS: Pregnant women with a normal first-trimester ultrasound examination at 11 to 13 weeks' gestation (fetal NT ≤3.5 mm and no fetal defects) were randomized into two groups. In the first group, the risk of aneuploidy was assessed using FTCS based on the most recent FMF UK algorithm...
September 19, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28925395/small-molecules-targeted-to-the-microtubule-hec1-interaction-inhibit-cancer-cell-growth-through-microtubule-stabilization
#15
M Ferrara, G Sessa, M Fiore, F Bernard, I A Asteriti, E Cundari, G Colotti, S Ferla, M Desideri, S Buglioni, D Trisciuoglio, D Del Bufalo, A Brancale, F Degrassi
Highly expressed in cancer protein 1 (Hec1) is a subunit of the kinetochore (KT)-associated Ndc80 complex, which ensures proper segregation of sister chromatids at mitosis by mediating the interaction between KTs and microtubules (MTs). HEC1 mRNA and protein are highly expressed in many malignancies as part of a signature of chromosome instability. These properties render Hec1 a promising molecular target for developing therapeutic drugs that exert their anticancer activities by producing massive chromosome aneuploidy...
September 18, 2017: Oncogene
https://www.readbyqxmd.com/read/28925367/generation-of-integration-free-induced-pluripotent-stem-cells-gzhmui001-a-by-reprogramming-peripheral-blood-mononuclear-cells-from-a-47-xxx-syndrome-patient
#16
Yuchang Chen, Zhanhui Ou, Bing Song, Yexing Xian, Shuming Ouyang, Yuhuan Xie, Yanting Xue, Xiaofang Sun
47, XXX syndrome is one of several sex-chromosomal aneuploidies, and it has an incidence of approximately 1/1000 in newborn females. Because of heterogeneity in X-inactivation, these patients may exhibit a variety of clinical symptoms. Here, we report the generation of an integration-free human induced pluripotent stem cell line (GZHMUi001-A) by using Sendai virus to reprogram peripheral blood mononuclear cells from a 47, XXX syndrome patient with premature ovarian failure. This 47, XXX iPS cell line has characteristics of pluripotent stem cells and is a useful tool for the investigation of this X chromosome aneuploid disease...
August 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28924540/analysis-of-meiotic-segregation-patterns-and-interchromosomal-effects-in-sperm-from-13-robertsonian-translocations
#17
B Wang, B Nie, D Tang, R Li, X Liu, J Song, W Wang, Z Liu
The frequency of the Robertonian (ROB) translocation in newborn babies is approximately one in 1000. Robertsonian translocation is an unusual type of chromosome rearrangement caused by two particular chromosomes joining together. The aim of the study was to analyze the segregation of the ROB translocations in 13 male carriers, and to verify a possible inter-chromosomal effect (ICE) of the ROB translocation on chromosomes 18, X, and Y. Thirteen male patients were included in the study. Multicolor fluorescent in situ hybridization (FISH) was used to analyze chromosomes 13, 14, 15, 21, 22, 18, X and Y in sperm...
June 30, 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28923286/abnormally-fertilized-oocytes-can-result-in-healthy-live-births-improved-genetic-technologies-for-preimplantation-genetic-testing-can-be-used-to-rescue-viable-embryos-in-in-vitro-fertilization-cycles
#18
Antonio Capalbo, Nathan Treff, Danilo Cimadomo, Xin Tao, Susanna Ferrero, Alberto Vaiarelli, Silvia Colamaria, Roberta Maggiulli, Giovanna Orlando, Catello Scarica, Richard Scott, Filippo Maria Ubaldi, Laura Rienzi
OBJECTIVE: To test whether abnormally fertilized oocyte (AFO)-derived blastocysts are diploid and can be rescued for clinical use. DESIGN: Longitudinal-cohort study from January 2015 to September 2016 involving IVF cycles with preimplantation genetic testing for aneuploidy (PGT-A). Ploidy assessment was incorporated whenever a blastocyst from a monopronuclear (1PN) or tripronuclear zygote (2PN + 1 smaller PN; 2.1 PN) was obtained. SETTING: Private IVF clinics and genetics laboratories...
September 15, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28921398/preliminary-analysis-of-numerical-chromosome-abnormalities-in-reciprocal-and-robertsonian-translocation-preimplantation-genetic-diagnosis-cases-with-24-chromosomal-analysis-with-an-acgh-snp-microarray
#19
Yanxin Xie, Yanwen Xu, Jing Wang, Benyu Miao, Yanhong Zeng, Chenhui Ding, Jun Gao, Canquan Zhou
PURPOSE: The aim of this study was to determine whether an interchromosomal effect (ICE) occurred in embryos obtained from reciprocal translocation (rcp) and Robertsonian translocation (RT) carriers who were following a preimplantation genetic diagnosis (PGD) with whole chromosome screening with an aCGH and SNP microarray. We also analyzed the chromosomal numerical abnormalities in embryos with aneuploidy in parental chromosomes that were not involved with a translocation and balanced in involved parental translocation chromosomes...
September 18, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28913947/extreme-chromosome-17-copy-number-instability-is-a-prognostic-factor-in-patients-with-gastroesophageal-adenocarcinoma-a-retrospective-cohort-study
#20
Jacqueline E Birkness, Neal G Spada, Caitlyn Miller, James D Luketich, Katie S Nason, Weijing Sun, Jon M Davison
Gastric and esophageal cancers frequently show genomic instability and aneuploidy. Chromosomal copy number instability (CIN) is a form of genomic instability that exerts pleiotropic effects on cellular biology and is a source of genetic heterogeneity in a population of cells. CIN results in cell-to-cell variation in chromosome copy number which can be detected and quantified by fluorescence in situ hybridization (FISH). CIN is a biomarker associated with differential response to a number of chemotherapy compounds...
September 14, 2017: Genes, Chromosomes & Cancer
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