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https://www.readbyqxmd.com/read/28821255/the-whole-genomic-analysis-of-orf-virus-strain-hn3-12-isolated-from-henan-province-central-china
#1
Huiqin Chen, Wei Li, Zhenzhan Kuang, Daxiang Chen, Xiaoqing Liao, Ming Li, Shuhong Luo, Wenbo Hao
BACKGROUND: The Orf virus (ORFV) is the causative agent of orf, a globally-occurring, acute, pustular, contagious disease affecting sheep, goats and humans with a worldwide distribution. Currently, the genomic analysis of four ORFV strains from the Fujian province in southern China and a NA1/11 strain isolated from the Jilin province in northeast China have been reported. However, little is known about the genomic information of ORFV strains from central China. RESULTS: From a recent outbreak in a sheep herd in the Henan province of central China, a novel ORFV strain (HN3/12) was isolated and cultured in ovine fetal turbinate (OFTu) cells...
August 18, 2017: BMC Veterinary Research
https://www.readbyqxmd.com/read/28814758/targeted-insertion-of-an-anti-cd2-monoclonal-antibody-transgene-into-the-ggta1-locus-in-pigs-using-foki-dcas9
#2
Mark B Nottle, Evelyn J Salvaris, Nella Fisicaro, Stephen McIlfatrick, Ivan Vassiliev, Wayne J Hawthorne, Philip J O'Connell, Jamie L Brady, Andrew M Lew, Peter J Cowan
Xenotransplantation from pigs has been advocated as a solution to the perennial shortage of donated human organs and tissues. CRISPR/Cas9 has facilitated the silencing of genes in donor pigs that contribute to xenograft rejection. However, the generation of modified pigs using second-generation nucleases with much lower off-target mutation rates than Cas9, such as FokI-dCas9, has not been reported. Furthermore, there have been no reports on the use of CRISPR to knock protective transgenes into detrimental porcine genes...
August 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28812602/prenatal-development-supports-a-single-origin-of-laryngeal-echolocation-in-bats
#3
Zhe Wang, Tengteng Zhu, Huiling Xue, Na Fang, Junpeng Zhang, Libiao Zhang, Jian Pang, Emma C Teeling, Shuyi Zhang
Bat laryngeal echolocation is considered as one of the most complex and diverse modes of auditory sensory perception in animals and its evolutionary history has been the cause of many scientific controversies in the past two decades. To date, the majority of scientific evidence supports that bats (Chiroptera) are divided into two subordinal groups: Yinpterochiroptera, containing the laryngeal echolocating superfamily Rhinolophidae as sister taxa to the non-laryngeal echolocating family Pteropodidae; and Yangochiroptera, containing all other laryngeal echolocating lineages...
January 9, 2017: Nature ecology & evolution
https://www.readbyqxmd.com/read/28809760/the-milestone-of-non-invasive-prenatal-identification-of-chromosomal-abnormalities-in-fetal-trophoblasts-recovered-from-maternal-blood
#4
Jaime Garcia-Heras
Two recent studies demonstrated that array CGH and NGS allow identification of chromosomal abnormalities in fetal trophoblasts circulating in maternal blood. This remarkable breakthrough paves the way for an improved assay that supersedes the performance of non-invasive prenatal testing (NIPT) in cell-free fetal DNA. Furthermore, it is foreseeable to expand the use of this new genomic analysis in trophoblasts to uncover single gene mutations of clinical significance prenatally.
2017: Journal of the Association of Genetic Technologists
https://www.readbyqxmd.com/read/28807863/prenatal-diagnosis-of-complex-phenotype-in-a-13-week-old-fetus-with-an-interstitial-multigene-deletion-20q13-13-q13-2-by-chromosomal-microarray
#5
Feodora Stipoljev, Danka Miric-Tesanic, Tomislav Hafner, Maja Barbalic, Monika Logara, Ruzica Lasan-Trcic, Ana Vicic, Romana Gjergja-Juraski
We report the first trimester three-dimensional ultrasonographic findings in a 13-week-old fetus with complex phenotype and a de novo 4.7 Mb multigene deletion encompassing chromosome region 20q13.13-q13.2 detected by chromosomal microarray. Fetal sonography detected radial-ray anomalies in the form of bilateral absence of thumbs and the left club hand deformity. The presence of single atrioventricular canal instead of the atrial septal defect typical for Holt-Oram syndrome pointed us to rather suspect the SALL4 related diseases...
August 11, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28807814/development-of-a-chromosomal-microarray-test-for-the-detection-of-abnormalities-in-formalin-fixed-paraffin-embedded-products-of-conception-specimens
#6
Troy J Gliem, Umut Aypar
Testing the products of conception (POC) provides information regarding the cause of fetal loss, and helps determine the recurrence risk for future losses and chromosome abnormalities in subsequent pregnancies. Historically, the Mayo Clinic Cytogenetics Laboratory performed targeted fluorescent in situ hybridization (FISH) testing to identify aneuploidy of only certain chromosomes in formalin-fixed, paraffin-embedded (FFPE) POC samples. Chromosomal microarray (CMA) studies utilizing the Affymetrix OncoScan™ FFPE Assay can detect copy number changes across the genome...
August 11, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28803536/bovine-viral-diarrhea-virus-1b-fetal-infection-with-extensive-hemorrhage
#7
Robert W Fulton, Anthony W Confer, Nicholas J Sorensen, Julia F Ridpath, Lurinda J Burge
Bovine viral diarrhea virus (BVDV) 1b was isolated from tissues of a term bovine fetus with petechial hemorrhages noted throughout the body and placenta at autopsy. Fresh lung, kidney, thymus, and liver tissues were examined by direct fluorescent antibody testing and were positive for BVDV antigen and negative for bovine herpesvirus 1 antigen. An organ pool of fresh tissues was positive for noncytopathic (NCP) BVDV-1 by virus isolation. BVDV-1b was identified by sequencing of the 5'-UTR region of the genome...
August 1, 2017: Journal of Veterinary Diagnostic Investigation
https://www.readbyqxmd.com/read/28800727/a-phased-snp-based-classification-of-sickle-cell-anemia-hbb-haplotypes
#8
Elmutaz M Shaikho, John J Farrell, Abdulrahman Alsultan, Hatem Qutub, Amein K Al-Ali, Maria Stella Figueiredo, David H K Chui, Lindsay A Farrer, George J Murphy, Gustavo Mostoslavsky, Paola Sebastiani, Martin H Steinberg
BACKGROUND: Sickle cell anemia causes severe complications and premature death. Five common β-globin gene cluster haplotypes are each associated with characteristic fetal hemoglobin (HbF) levels. As HbF is the major modulator of disease severity, classifying patients according to haplotype is useful. The first method of haplotype classification used restriction fragment length polymorphisms (RFLPs) to detect single nucleotide polymorphisms (SNPs) in the β-globin gene cluster. This is labor intensive, and error prone...
August 11, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28793237/fetal-sex-dependent-genomic-responses-in-the-circulating-lymphocytes-of-arsenic-exposed-pregnant-women-in-new-hampshire
#9
Paige A Bommarito, Elizabeth Martin, Lisa Smeester, Thomas Palys, Emily R Baker, Margaret R Karagas, Rebecca C Fry
Exposure to inorganic arsenic (iAs) during pregnancy is associated with adverse health outcomes present both at birth and later in life. A mechanism may include epigenetic and genomic alteration in fetal genes involved in immune functioning. To investigate the role of the maternal immune response to in utero iAs exposure, we conducted an analysis of immune-related genes in pregnant women from the New Hampshire Birth Cohort Study. A set of 31 genes were identified with altered expression in association with levels of urinary total arsenic, urinary iAs, urinary monomethylated arsenic and urinary dimethylated arsenic...
August 6, 2017: Reproductive Toxicology
https://www.readbyqxmd.com/read/28781890/self-reported-pregnancy-exposures-and-placental-dna-methylation-in-the-marbles-prospective-autism-sibling-study
#10
Rebecca J Schmidt, Diane I Schroeder, Florence K Crary-Dooley, Jacqueline M Barkoski, Daniel J Tancredi, Cheryl K Walker, Sally Ozonoff, Irva Hertz-Picciotto, Janine M LaSalle
Human placenta is a fetal-derived tissue that offers a unique sample of epigenetic and environmental exposures present in utero. In the MARBLES prospective pregnancy study of high-risk younger siblings of children with autism spectrum disorder (ASD), pregnancy and environmental factors collected by maternal interviews were examined as predictors of placental DNA methylation, including partially methylated domains (PMDs), an embryonic feature of the placental methylome. DNA methylation data from MethylC-seq analysis of 47 placentas of children clinically diagnosed at 3 years with ASD or typical development using standardized assessments were examined in relation to: child's gestational age, birth-weight, and diagnosis; maternal pre-pregnancy body mass index, smoking, education, parity, height, prenatal vitamin and folate intake; home ownership; pesticides professionally applied to lawns or gardens or inside homes, pet flea/tick pouches, collars, or soaps/shampoos used in the 3 months prior to or during pregnancy...
December 2016: Environmental Epigenetics
https://www.readbyqxmd.com/read/28781851/cell-free-dna-results-lead-to-unexpected-diagnosis
#11
Jessica Smith, Victoria Kean, Diana W Bianchi, Gerald Feldman, Nancie Petrucelli, Michael Simon, Bernard Gonik
Maternal cell-free DNA (cfDNA) results that are discordant with the diagnostic fetal karyotype should prompt further investigation. If deeper analysis of the cfDNA results demonstrates a "saw-tooth" pattern characteristic of genome-wide imbalance, maternal malignancy is suggested. Identifying the maternal malignancy can, however, be difficult.
August 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28777863/-application-of-chromosome-microarray-analysis-for-the-delineation-of-pathogenesis-for-fetal-ventriculomegaly
#12
Zhouzhou Li, Fang Fu, Tingying Lei, Ru Li, Xiangyi Jing, Xin Yang, Jin Han, Min Pan, Li Zhen, Can Liao
OBJECTIVE: To assess the value of genome-wide high-resolution chromosomal microarray analysis (CMA) for the delineation of pathogenesis for fetal ventriculomegaly diagnosed by ultrasound or magnetic resonance imaging (MRI). METHODS: Three hundred and forty-one cases of fetal ventriculomegaly were collected. The samples were grouped based on the extent of lateral ventricular dilatation, presence of additional features, site of occurrence, and the maternal age. All samples were subjected to karyotyping analysis...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28777857/-application-of-chromosomal-karyotyping-analysis-and-array-cgh-for-fetal-abnormalities-detected-by-ultrasonography
#13
Yousheng Wang, Bin Tang, Li Guo, Hanbiao Chen, Jian Lu, Aihua Yin
OBJECTIVE: To assess the value of chromosomal karyotyping and array-based comparative genomic hybridization for the diagnosis of fetus with abnormalities detected by ultrasonography. METHODS: Umbilical cord blood samples were derived from 1 603 pregnant women. The samples were cultured for routine G-banding karyotype analysis. Among these, 792 samples have further subjected to array CGH analysis. RESULTS: Among the 1 603 fetuses, 117 (7.30%) were found with chromosomal abnormalities...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28771834/molecular-prenatal-diagnosis-of-alpha-and-beta-thalassemia-in-pregnant-hakka-women-in-southern-china
#14
Pingsen Zhao, Heming Wu, Zhixiong Zhong, Liubing Lan, Mei Zeng, Hualan Lin, Huaxian Wang, Zhiyuan Zheng, Luxian Su, Wei Guo
BACKGROUND: To date, there has been no systematic study of DNA-based prenatal diagnosis of thalassemia in pregnant Hakka women in southern China. METHODS: A total of 279 pregnant Hakka women with confirmed cases of thalassemia who had been treated at the Meizhou People's Hospital in China's Guangdong Province from January 2014 to December 2016 were here enrolled. Genomic DNA was extracted from peripheral blood of couples and villus, amniotic fluid, or fetal cord blood...
August 3, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28768736/congenital-diaphragmatic-hernias-from-genes-to-mechanisms-to-therapies
#15
REVIEW
Gabrielle Kardon, Kate G Ackerman, David J McCulley, Yufeng Shen, Julia Wynn, Linshan Shang, Eric Bogenschutz, Xin Sun, Wendy K Chung
Congenital diaphragmatic hernias (CDHs) and structural anomalies of the diaphragm are a common class of congenital birth defects that are associated with significant morbidity and mortality due to associated pulmonary hypoplasia, pulmonary hypertension and heart failure. In ∼30% of CDH patients, genomic analyses have identified a range of genetic defects, including chromosomal anomalies, copy number variants and sequence variants. The affected genes identified in CDH patients include transcription factors, such as GATA4, ZFPM2, NR2F2 and WT1, and signaling pathway components, including members of the retinoic acid pathway...
August 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28763065/genome-wide-association-analysis-identifies-common-variants-influencing-infant-brain-volumes
#16
K Xia, J Zhang, M Ahn, S Jha, J J Crowley, J Szatkiewicz, T Li, F Zou, H Zhu, D Hibar, P Thompson, P F Sullivan, M Styner, J H Gilmore, R C Knickmeyer
Genome-wide association studies (GWAS) of adolescents and adults are transforming our understanding of how genetic variants impact brain structure and psychiatric risk, but cannot address the reality that psychiatric disorders are unfolding developmental processes with origins in fetal life. To investigate how genetic variation impacts prenatal brain development, we conducted a GWAS of global brain tissue volumes in 561 infants. An intronic single-nucleotide polymorphism (SNP) in IGFBP7 (rs114518130) achieved genome-wide significance for gray matter volume (P=4...
August 1, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28758373/fetal-cerebral-ventricular-dilatation-etiopathogenic-study-of-130-observations
#17
Sihem Darouich, Lucile Boutaud, Bettina Bessières, Maryse Bonnière, Jelena Martinovic, Charlotte Mechler, Caroline Alby, Jean-Pierre Bernard, Philippe Roth, Yves Ville, Valerie Malan, Michel Vekemans, Tania Attié-Bitach, Férechté Encha-Razavi
BACKGROUND: Fetal cerebral ventricular dilatation (CVD) is a common abnormal prenatal finding that often predicts a poor prognosis. The etiology involves both genetic and nongenetic factors with diverse pathogenic mechanisms. We describe the neuropathological features of CVD in a large cohort of fetuses. The goals are to determine the physiopathological mechanisms and etiologies. METHODS: We retrospectively analyzed a series of 130 fetuses examined at the Necker University Hospital following termination of pregnancy between January 2000 and December 2014...
July 31, 2017: Birth defects research
https://www.readbyqxmd.com/read/28755746/genome-wide-profiling-of-differentially-spliced-mrnas-in-human-fetal-cortical-tissue-exposed-to-alcohol
#18
Yuka Imamura Kawasawa, Shahid Mohammad, Alexander I Son, Hiroki Morizono, Aiesha Basha, Anna C Salzberg, Masaaki Torii, Kazue Hashimoto-Torii
Excessive alcohol consumption results in significant changes in gene expression and isoforms due to altered mRNA splicing. As such, an intriguing possibility is that disturbances in alternative splicing are involved in key pathological pathways triggered by alcohol exposure. However, no resources have been available to systematically analyze this possibility at a genome-wide scale. Here, we performed RNA sequencing of human fetal cortical slices that were obtained at the late first trimester and exposed to ethanol or control medium...
August 2017: Alcohol
https://www.readbyqxmd.com/read/28753543/nlrp-genes-and-their-role-in-preeclampsia-and-multi-locus-imprinting-disorders
#19
Lukas Soellner, Kathrin Maria Kopp, Sabine Mütze, Robert Meyer, Matthias Begemann, Sabine Rudnik, Werner Rath, Thomas Eggermann, Klaus Zerres
Preeclampsia (PE) affects 2-5% of all pregnancies. It is a multifactorial disease, but it has been estimated that 35% of the variance in liability of PE are attributable to maternal genetic effects and 20% to fetal genetic effects. PE has also been reported in women delivering children with Beckwith-Wiedemann syndrome (BWS, OMIM 130650), a disorder associated with aberrant methylation at genomically imprinted loci. Among others, members of the NLRP gene family are involved in the etiology of imprinting defects...
July 28, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28753061/low-dose-ionizing-radiation-exposure-oxidative-stress-and-epigenetic-programing-of-health-and-disease
#20
Sujeenthar Tharmalingam, Shayenthiran Sreetharan, Adomas V Kulesza, Douglas R Boreham, T C Tai
Ionizing radiation exposure from medical diagnostic imaging has greatly increased over the last few decades. Approximately 80% of patients who undergo medical imaging are exposed to low-dose ionizing radiation (LDIR). Although there is widespread consensus regarding the harmful effects of high doses of radiation, the biological effects of low-linear energy transfer (LET) LDIR is not well understood. LDIR is known to promote oxidative stress, however, these levels may not be large enough to result in genomic mutations...
July 28, 2017: Radiation Research
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