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https://www.readbyqxmd.com/read/28107208/environment-susceptibility-windows-development-and-child-health
#1
Robert O Wright
PURPOSE OF REVIEW: To illustrate the role of the exposome in child health while highlighting unique aspects of this research pertinent to children, such as the time dependency of environmental exposures on fetal programming, as well as the time-dependent nature of child behavior, diet, and motor function, which alter the probability of exposure to different compounds. Future environmental health research will be more hypothesis generating but will also need to heed lessons learned from other 'omic' sciences...
January 18, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28102431/totipotency-in-the-mouse
#2
REVIEW
Guangming Wu, Lei Lei, Hans R Schöler
In mammals, the unicellular zygote starts the process of embryogenesis and differentiates into all types of somatic cells, including both fetal and extraembryonic lineages-in a highly organized manner to eventually give rise to an entire multicellular organism comprising more than 200 different tissue types. This feature is referred to as totipotency. Upon fertilization, oocyte maternal factors epigenetically reprogram the genomes of the terminally differentiated oocyte and spermatozoon and turn the zygote into a totipotent cell...
January 19, 2017: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
https://www.readbyqxmd.com/read/28101245/apobec3b-expression-in-human-leptomeninges-and-meningiomas
#3
Mahlon D Johnson, Jay E Reeder, Mary O'Connell
Nucleic acid-editing enzymes of the apolipoprotein B mRNA-editing enzyme (APOBEC) family have been associated with somatic mutation in cancer. However, the role of APOBEC catalytic subunit 3B (APOBEC3B) editing in the pathogenesis of base substitutions in meningiomas is unknown. In the present study, the expression of APOBEC3B was examined by reverse transcription-quantitative polymerase chain reaction (RT-qPCR) and western blot analyses in five fetal and one adult human leptomeninges and 38 meningiomas. Genomic DNA was sequenced using the Illumina Tru-Seq Cancer Panel...
December 2016: Oncology Letters
https://www.readbyqxmd.com/read/28098253/the-clinically-approved-antiviral-drug-sofosbuvir-inhibits-zika-virus-replication
#4
Carolina Q Sacramento, Gabrielle R de Melo, Caroline S de Freitas, Natasha Rocha, Lucas Villas Bôas Hoelz, Milene Miranda, Natalia Fintelman-Rodrigues, Andressa Marttorelli, André C Ferreira, Giselle Barbosa-Lima, Juliana L Abrantes, Yasmine Rangel Vieira, Mônica M Bastos, Eduardo de Mello Volotão, Estevão Portela Nunes, Diogo A Tschoeke, Luciana Leomil, Erick Correia Loiola, Pablo Trindade, Stevens K Rehen, Fernando A Bozza, Patrícia T Bozza, Nubia Boechat, Fabiano L Thompson, Ana M B de Filippis, Karin Brüning, Thiago Moreno L Souza
Zika virus (ZIKV) is a member of the Flaviviridae family, along with other agents of clinical significance such as dengue (DENV) and hepatitis C (HCV) viruses. Since ZIKV causes neurological disorders during fetal development and in adulthood, antiviral drugs are necessary. Sofosbuvir is clinically approved for use against HCV and targets the protein that is most conserved among the members of the Flaviviridae family, the viral RNA polymerase. Indeed, we found that sofosbuvir inhibits ZIKV RNA polymerase, targeting conserved amino acid residues...
January 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28094005/imprinted-genes-and-the-regulation-of-placental-endocrine-function-pregnancy-and-beyond
#5
Rosalind M John
Genomic imprinting is an epigenetic process responsible for the monoallelic expression of a subset of genes in mammals. Imprinted genes have been demonstrated to play important functions prenatally regulating fetal growth and placental development with some functions persisting beyond pregnancy to influence both metabolism and behaviour in adults. This review focuses on the function of imprinted genes in regulating placental hormones, and the probability that these functions manifest their impact beyond pregnancy...
January 10, 2017: Placenta
https://www.readbyqxmd.com/read/28087634/genome-wide-identification-of-regulatory-elements-in-sertoli-cells
#6
Danielle M Maatouk, Anirudh Natarajan, Yoichiro Shibata, Lingyun Song, Gregory E Crawford, Uwe Ohler, Blanche Capel
A current goal of molecular biology is to identify transcriptional networks regulating cell differentiation. However, identifying functional gene regulatory elements has been challenging in the context of developing tissues where material is limited and cell types are mixed. To identify regulatory sites during sex determination, we subjected Sertoli cells from mouse fetal testes to DNaseI-seq and ChIP-seq for H3K27ac. DNaseI-seq identified putative regulatory sites around Sertoli- and pregranulosa-enriched genes; however, active enhancers marked by H3K27ac were enriched proximal only to Sertoli-enriched genes...
January 13, 2017: Development
https://www.readbyqxmd.com/read/28070760/the-generation-r-study-design-and-cohort-update-2017
#7
Marjolein N Kooijman, Claudia J Kruithof, Cornelia M van Duijn, Liesbeth Duijts, Oscar H Franco, Marinus H van IJzendoorn, Johan C de Jongste, Caroline C W Klaver, Aad van der Lugt, Johan P Mackenbach, Henriëtte A Moll, Robin P Peeters, Hein Raat, Edmond H H M Rings, Fernando Rivadeneira, Marc P van der Schroeff, Eric A P Steegers, Henning Tiemeier, André G Uitterlinden, Frank C Verhulst, Eppo Wolvius, Janine F Felix, Vincent W V Jaddoe
The Generation R Study is a population-based prospective cohort study from fetal life until adulthood. The study is designed to identify early environmental and genetic causes and causal pathways leading to normal and abnormal growth, development and health from fetal life, childhood and young adulthood. This multidisciplinary study focuses on several health outcomes including behaviour and cognition, body composition, eye development, growth, hearing, heart and vascular development, infectious disease and immunity, oral health and facial growth, respiratory health, allergy and skin disorders of children and their parents...
December 2016: European Journal of Epidemiology
https://www.readbyqxmd.com/read/28059605/fetal-dna-hypermethylation-in-tight-junction-pathway-is-associated-with-neural-tube-defects-a-genome-wide-dna-methylation-analysis
#8
Linlin Wang, Shanshan Lin, Ji Zhang, Tian Tian, Lei Jin, Aiguo Ren
Neural tube defects (NTDs) are a spectrum of severe congenital malformations of fusion failure of the neural tube during early embryogenesis. Evidence on aberrant DNA methylation in NTD development remains scarce, especially when exposure to environmental pollutant is taken into consideration. DNA methylation profiling was quantified using the Infinium HumanMethylation450 array in neural tissues from 10 NTD cases and 8 non-malformed controls (stage 1). Subsequent validation was performed using a Sequenom MassARRAY system in neural tissues from 20 NTD cases and 20 non-malformed controls (stage 2)...
January 6, 2017: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/28054346/optimized-logic-rules-reveal-ifn-%C3%AE-induced-modes-regulated-by-histone-deacetylases-and-protein-tyrosine-phosphatases
#9
Daniel Van Twisk, Shawn P Murphy, Juilee Thakar
The pro-inflammatory cytokine interferon-γ (IFN-γ) is critical for activating innate and adaptive immunity against tumors and intracellular pathogens. IFN-γ is secreted at the fetal-maternal interface in pregnant women and mice. The outer layer of the placenta in contact with maternal blood is composed of semi-allogeneic trophoblast cells, which constitute the fetal component of the fetal-maternal interface. The simultaneous presence of pro-inflammatory IFN-γ and trophoblast cells at the fetal-maternal interface appears to represent an immunological paradox, for trophoblastic responses to IFN-γ could potentially lead to activation of maternal immunity and subsequent attack of the placenta...
January 5, 2017: Immunology
https://www.readbyqxmd.com/read/28045957/normal-levels-of-sox9-expression-in-the-developing-mouse-testis-depend-on-the-tes-tesco-enhancer-but-this-does-not-act-alone
#10
Nitzan Gonen, Alexander Quinn, Helen C O'Neill, Peter Koopman, Robin Lovell-Badge
During mouse sex determination, transient expression of the Y-linked gene Sry up-regulates its direct target gene Sox9, via a 3.2 kb testis specific enhancer of Sox9 (TES), which includes a core 1.4 kb element, TESCO. SOX9 activity leads to differentiation of Sertoli cells, rather than granulosa cells from the bipotential supporting cell precursor lineage. Here, we present functional analysis of TES/TESCO, using CRISPR/Cas9 genome editing in mice. Deletion of TESCO or TES reduced Sox9 expression levels in XY fetal gonads to 60 or 45% respectively relative to wild type gonads, and reduced expression of the SOX9 target Amh...
January 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28040139/prenatal-diagnosis-of-paternal-duplication-of-11p15-5%C3%A2-14-3-its-implication-of-beckwith-wiedemann-syndrome
#11
Kuan Ju Chen, Yu Mei Liu, Chien Hong Li, Yao Lung Chang, Shuenn Dyh Chang
OBJECTIVE: To characterize a prenatally detected chromosomal aberration with molecular cytogenetic approaches and explore its relationship with Beckwith-Wiedemann syndrome (BWS). CASE REPORT: A 33-year-old woman, gravida 2, para 0, was referred to our prenatal clinic at 20+ weeks due to an abnormal amniocentesis karyotyping finding, which showed 46,XY,add(11)(q24.2)dn. The mother conceived through in vitro fertilization-intracytoplasmic sperm injection (IVF-ICSI), then embryo transfer...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28040135/pallister-killian-syndrome-cytogenetics-and-molecular-investigations-of-mosaic-tetrasomy-12p-in-prenatal-chorionic-villus-and-in-amniocytes-strategy-of-prenatal-diagnosis
#12
Francesco Libotte, Domenico Bizzoco, Ivan Gabrielli, Alvaro Mesoraca, Pietro Cignini, Salvatore Giovanni Vitale, Ilaria Marilli, Ferdinando Antonio Gulino, Agnese Maria Chiara Rapisarda, Claudio Giorlandino
OBJECTIVE: Pallister-Killian syndrome (PKS) is a rare, sporadic genetic disorder caused by mosaic tetrasomy of the short arm of chromosome 12 (12p). Clinically, PKS is characterized by several systemic abnormalities, such as intellectual impairment, hearing loss, epilepsy, hypotonia, craniofacial dysmorphism, pigmentary skin anomalies, epilepsy, and a variety of congenital malformations. Prenatally, PKS can be suspected in the presence of ultrasound anomalies: diaphragmatic hernia, rhizomelic micromelia, hydrops fetalis, fetal overweight, ventriculomegaly in the central nervous system, congenital heart defects, or absent visualization of the stomach...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28038456/dna-methylation-landscape-of-hepatoblastomas-reveals-arrest-at-early-stages-of-liver-differentiation-and-cancer-related-alterations
#13
Mariana Maschietto, Tatiane Cristina Rodrigues, André Yoshiaki Kashiwabara, Érica Sara Souza de Araujo, Talita Ferreira Marques Aguiar, Cecilia Maria Lima da Costa, Isabela Werneck da Cunha, Luciana Dos Reis Vasques, Monica Cypriano, Helena Brentani, Silvia Regina Caminada de Toledo, Peter Lees Pearson, Dirce Maria Carraro, Carla Rosenberg, Ana Cristina Victorino Krepischi
Hepatoblastomas are uncommon embryonal liver tumors accounting for approximately 80% of childhood hepatic cancer. We hypothesized that epigenetic changes, including DNA methylation, could be relevant to hepatoblastoma onset. The methylomes of eight matched hepatoblastomas and non-tumoral liver tissues were characterized, and data were validated in an independent group (11 hepatoblastomas). In comparison to differentiated livers, hepatoblastomas exhibited a widespread and non-stochastic pattern of global low-level hypomethylation...
December 25, 2016: Oncotarget
https://www.readbyqxmd.com/read/28031325/diethylstilbestrol-activates-catsper-and-disturbs-progesterone-actions-in-human-spermatozoa
#14
Qian-Xing Zou, Zhen Peng, Qing Zhao, Hou-Yang Chen, Yi-Min Cheng, Qing Liu, Yuan-Qiao He, Shi-Qi Weng, Hua-Feng Wang, Tao Wang, Li-Ping Zheng, Tao Luo
STUDY QUESTION: Is diethylstilbestrol (DES), a prototypical endocrine-disrupting chemical (EDC), able to induce physiological changes in human spermatozoa and affect progesterone actions? SUMMARY ANSWER: DES promoted Ca(2+) flux into human spermatozoa by activating the cation channel of sperm (CatSper) and suppressed progesterone-induced Ca(2+) signaling, tyrosine phosphorylation and sperm functions. WHAT IS KNOWN ALREADY: DES significantly impairs the male reproductive system both in fetal and postnatal exposure...
December 28, 2016: Human Reproduction
https://www.readbyqxmd.com/read/28027800/prenatal-airborne-polycyclic-aromatic-hydrocarbon-exposure-line1-methylation-and-child-development-in-a-chinese-cohort
#15
Joan Lee, Vrinda Kalia, Frederica Perera, Julie Herbstman, Tingyu Li, Jisheng Nie, L R Qu, Jie Yu, Deliang Tang
BACKGROUND: Polycyclic aromatic hydrocarbons (PAH) are carcinogenic, neurotoxic environmental pollutants generated during incomplete combustion of fossil fuel and other organic material. PAH exposure has been associated with adverse fetal development and epigenetic alterations in cord blood. Several molecular epidemiology studies have established PAH-DNA adducts as biomarkers of PAH exposure. OBJECTIVES: We investigated the relationship between LINE1 DNA methylation and PAH-DNA adduct levels in cord blood, and with neurodevelopmental outcomes...
December 24, 2016: Environment International
https://www.readbyqxmd.com/read/28018572/placental-methylome-analysis-from-a-prospective-autism-study
#16
Diane I Schroeder, Rebecca J Schmidt, Florence K Crary-Dooley, Cheryl K Walker, Sally Ozonoff, Daniel J Tancredi, Irva Hertz-Picciotto, Janine M LaSalle
BACKGROUND: Autism spectrum disorders (ASD) are increasingly prevalent neurodevelopmental disorders that are behaviorally diagnosed in early childhood. Most ASD cases likely arise from a complex mixture of genetic and environmental factors, an interface where the epigenetic marks of DNA methylation may be useful as risk biomarkers. The placenta is a potentially useful surrogate tissue characterized by a methylation pattern of partially methylated domains (PMDs) and highly methylated domains (HMDs) reflective of methylation patterns observed in the early embryo...
2016: Molecular Autism
https://www.readbyqxmd.com/read/28010042/should-we-open-the-kimono-to-release-the-results-of-rare-autosomal-aneuploidies-following-noninvasive-prenatal-whole-genome-sequencing
#17
Diana W Bianchi
The metaphor "open kimono" has been applied in the business world to connote transparency via the release of all available data to an external party. Here the author uses this term to discuss the relative advantages and disadvantages of reporting on the presence of rare autosomal aneuploidies detected by massively parallel sequencing of placental cell-free DNA in the plasma of pregnant women. Newly presented datasets from multiple laboratories suggest that autosomal aneuploidies such as trisomies 7, 15, 16, 22, and 8 are easily detectable and are potentially associated with fetal growth restriction, pregnancy loss and maternal preeclampsia...
December 23, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28009303/cerebral-organoids-recapitulate-epigenomic-signatures-of-the-human-fetal-brain
#18
Chongyuan Luo, Madeline A Lancaster, Rosa Castanon, Joseph R Nery, Juergen A Knoblich, Joseph R Ecker
Organoids derived from human pluripotent stem cells recapitulate the early three-dimensional organization of the human brain, but whether they establish the epigenomic and transcriptional programs essential for brain development is unknown. We compared epigenomic and regulatory features in cerebral organoids and human fetal brain, using genome-wide, base resolution DNA methylome and transcriptome sequencing. Transcriptomic dynamics in organoids faithfully modeled gene expression trajectories in early-to-mid human fetal brains...
December 20, 2016: Cell Reports
https://www.readbyqxmd.com/read/27997041/genetic-variation-at-16q24-2-is-associated-with-small-vessel-stroke
#19
Matthew Traylor, Rainer Malik, Mike A Nalls, Ioana Cotlarciuc, Farid Radmanesh, Gudmar Thorleifsson, Ken B Hanscombe, Carl Langefeld, Danish Saleheen, Natalia S Rost, Idil Yet, Tim D Spector, Jordana T Bell, Eilis Hannon, Jonathan Mill, Ganesh Chauhan, Stephanie Debette, Joshua C Bis, W T Longstreth, M Arfan Ikram, Lenore J Launer, Sudha Seshadri, Jordi Jimenez-Conde, John W Cole, Reinhold Schmidt, Agnieszka Słowik, Robin Lemmens, Arne Lindgren, Olle Melander, Raji P Grewal, Ralph L Sacco, Tatjana Rundek, Kathryn Rexrode, Donna K Arnett, Julie A Johnson, Oscar R Benavente, Sylvia Wasssertheil-Smoller, Jin-Moo Lee, Sara L Pulit, Quenna Wong, Stephen S Rich, Paul I W de Bakker, Patrick F McArdle, Daniel Woo, Christopher D Anderson, Huichun Xu, Laura Heitsch, Myriam Fornage, Christina Jern, Kari Stefansson, Unnur Thorsteinsdottir, Solveig Gretarsdottir, Cathryn M Lewis, Pankaj Sharma, Cathie L M Sudlow, Peter M Rothwell, Giorgio B Boncoraglio, Vincent Thijs, Chris Levi, James F Meschia, Jonathan Rosand, Steven J Kittner, Braxton D Mitchell, Martin Dichgans, Bradford B Worrall, Hugh S Markus
OBJECTIVE: Genome-wide association studies (GWAS) have been successful at identifying associations with stroke and stroke subtypes, but have not yet identified any associations solely with small vessel stroke (SVS). SVS comprises a quarter of all ischaemic stroke and is a major manifestation of cerebral small vessel disease, the primary cause of vascular cognitive impairment. Studies across neurological traits have shown younger onset cases have an increased genetic burden. We leveraged this increased genetic burden by performing an age-at-onset informed GWAS meta-analysis, including a large younger onset SVS population, to identify novel associations with stroke...
December 20, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27996896/concerns-about-justification-for-fetal-genome-sequencing
#20
Jeffrey R Botkin, Leslie P Francis, Nancy C Rose
No abstract text is available yet for this article.
January 2017: American Journal of Bioethics: AJOB
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