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https://www.readbyqxmd.com/read/29045485/alterations-in-the-placental-methylome-with-maternal-obesity-and-evidence-for-metabolic-regulation
#1
Kohzoh Mitsuya, Ashley N Parker, Lu Liu, Jianhua Ruan, Margreet C M Vissers, Leslie Myatt
The inflammatory and metabolic derangements of obesity in pregnant women generate an adverse intrauterine environment, increase pregnancy complications and adverse fetal outcomes and program the fetus for obesity and metabolic syndrome in later life. We hypothesized that epigenetic modifications in placenta including altered DNA methylation/hydroxymethylation may mediate these effects. Term placental villous tissue was collected following cesarean section from lean (prepregnancy BMI<25) or obese (BMI>30) women...
2017: PloS One
https://www.readbyqxmd.com/read/29044892/mouse-parthenogenetic-embryonic-stem-cells-with-biparental-like-expression-of-imprinted-genes-generate-cortical-like-neurons-that-integrate-into-the-injured-adult-cerebral-cortex
#2
Annie Varrault, Sigrid Eckardt, Benoît Girard, Anne Le Digarcher, Isabelle Sassetti, Céline Meusnier, Chantal Ripoll, Armen Badalyan, Federica Bertaso, K John McLaughlin, Laurent Journot, Tristan Bouschet
One strategy for stem cell-based therapy of the cerebral cortex involves the generation and transplantation of functional, histocompatible cortical-like neurons from embryonic stem cells (ESCs). Diploid parthenogenetic Pg-ESCs have recently emerged as a promising source of histocompatible ESC derivatives for organ regeneration but their utility for cerebral cortex therapy is unknown. A major concern with Pg-ESCs is genomic imprinting. In contrast with biparental Bp-ESCs derived from fertilized oocytes, Pg-ESCs harbor two maternal genomes but no sperm-derived genome...
October 16, 2017: Stem Cells
https://www.readbyqxmd.com/read/29044877/sustained-fxn-expression-in-dorsal-root-ganglia-from-a-nonreplicative-genomic-hsv-1-vector
#3
Maria Ventosa, Zetang Wu, Filip Lim
BACKGROUND: Friedreich's ataxia (FA) is an autosomal recessive neurodegenerative disease caused by mutations in the frataxin gene (FXN), which lead to reduced levels of the essential mitochondrial protein frataxin. Currently there is no effective cure. METHODS: With the aim of developing a gene therapy for FA neuropathology, here we describe the construction and preliminary characterization of a high capacity nonreplicative genomic herpes simplex virus type 1 vector (H24B-FXNlac vector) carrying a reduced version of the human FXN genomic locus, comprising the 5 kb promoter and the FXN cDNA with the inclusion of intron 1...
October 17, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/29040792/future-of-days-past-neurodevelopment-and-schizophrenia
#4
Daniel R Weinberger
Since a proposal in 1986 that schizophrenia involved early neurodevelopmental deviations beginning in intrauterine life that showed varying expressivity as relevant neural systems matured, our understanding of the developmental components of the pathogenesis of schizophrenia has substantially evolved. This commentary highlights recent genetic and epigenetic evidence that prenatal development is a critical period for the expression of schizophrenia risk. Studies of gene expression have been fairly consistent in showing that genes implicated in schizophrenia show relatively greater expression during fetal than postnatal life...
October 11, 2017: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/29037560/application-of-non-invasive-prenatal-testing-in-late-gestation-in-a-pregnancy-associated-with-intrauterine-growth-restriction-and-trisomy-22-confined-placental-mosaicism
#5
Chih-Ping Chen, Chris Tsai, Ming-Huei Lin, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Wen-Lin Chen, Chen-Wen Pan, Wayseen Wang
OBJECTIVE: We present the application of non-invasive prenatal testing (NIPT) in late gestation in a pregnancy associated with intrauterine growth restriction (IUGR) and trisomy 22 confined placental mosaicism (CPM). CASE REPORT: A 35-year-old pregnant woman underwent chorionic villus sampling (CVS) at 12 weeks of gestation. The pregnancy was conceived by in vitro fertilization and intracytoplasmic sperm injection. CVS revealed a karyotype of 47,XY,+22 in all of 15 cultured chorionic villi cells...
October 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29033309/ethical-considerations-in-prenatal-testing-genomic-testing-and-medical-uncertainty
#6
REVIEW
Anastasia Richardson, Kelly E Ormond
Prenatal diagnostic testing has recently progressed from karyotype to routinely available chromosomal microarray, and the potential for fetal whole exome sequencing, both through invasive diagnostic testing and, in some cases, non-invasive prenatal testing. These tests bring beneficence through providing a higher diagnostic yield, often with lower risks of miscarriage than previously available testing, but also raise the question of harms related to an increase in uncertain and unknown results. Some parents-to-be report a desire to learn as much information as possible prenatally, and there may be beneficence in providing them with this information...
October 12, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29032508/development-and-characterization-of-2-dimensional-culture-for-buffalo-intestinal-cells
#7
Nidhi Chaudhary, Himanshu Agrawal, Mamta Pandey, Suneel Onteru, Dheer Singh
Small intestinal epithelial cells (IEC) play a major role in the absorption of nutrients and toxins. Due to the similarity of genome-wide single copy protein orthologues between cattle and human, establishment of ruminant's primary small IEC culture could be a valuable tool for toxicity studies. Therefore, the current study focused on the development and characterization of buffalo IEC culture, as cattle slaughter is banned in India. The buffalo jejunum fragments were washed consecutively several times in saline, warm phosphate buffered saline (PBS), PBS with 5 mM dithiothreitol, digesting solution and 2% sorbitol in PBS...
October 14, 2017: Cytotechnology
https://www.readbyqxmd.com/read/29032050/positive-predictive-value-estimates-for-cell-free-noninvasive-prenatal-screening-from-data-of-a-large-referral-genetic-diagnostic-laboratory
#8
Andrea K Petersen, Sau Wai Cheung, Janice L Smith, Weimin Bi, Patricia A Ward, Sandra Peacock, Alicia Braxton, Ignatia B van den Veyver, Amy M Breman
BACKGROUND: Since its debut in 2011, cell-free fetal DNA (cffDNA) screening has undergone rapid expansion with respect to both utilization and coverage. However, conclusive data regarding the clinical validity and utility of this screening tool, both for the originally included common autosomal and sex-chromosomal aneuploidies as well as the more recently added chromosomal microdeletion syndromes, has lagged behind. Thus, there is a continued need to educate clinicians and patients about the current benefits and limitations of this screening tool to inform pre and post-test counseling, pre/perinatal decision making and medical risk assessment/management...
October 12, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29029729/schmallenberg-virus-a-novel-virus-of-veterinary-importance
#9
Kerstin Wernike, Martin Beer
In late 2011, unspecific clinical symptoms such as fever, diarrhea, and decreased milk production were observed in dairy cattle in the Dutch/German border region. After exclusion of classical endemic and emerging viruses by targeted diagnostic systems, blood samples from acutely diseased cows were subjected to metagenomics analysis. An insect-transmitted orthobunyavirus of the Simbu serogroup was identified as the causative agent and named Schmallenberg virus (SBV). It was one of the first detections of the introduction of a novel virus of veterinary importance to Europe using the new technology of next-generation sequencing...
2017: Advances in Virus Research
https://www.readbyqxmd.com/read/29026446/dna-methylation-links-genetics-fetal-environment-and-an-unhealthy-lifestyle-to-the-development-of-type-2-diabetes
#10
REVIEW
Emma Nilsson, Charlotte Ling
Type 2 diabetes is a complex trait with both environmental and hereditary factors contributing to the overall pathogenesis. One link between genes, environment, and disease is epigenetics influencing gene transcription and, consequently, organ function. Genome-wide studies have shown altered DNA methylation in tissues important for glucose homeostasis including pancreas, liver, skeletal muscle, and adipose tissue from subjects with type 2 diabetes compared with nondiabetic controls. Factors predisposing for type 2 diabetes including an adverse intrauterine environment, increasing age, overweight, physical inactivity, a family history of the disease, and an unhealthy diet have all shown to affect the DNA methylation pattern in target tissues for insulin resistance in humans...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28993175/smfm-special-statement-research-to-knowledge-promoting-the-training-of-physician-scientists-in-the-biology-of-pregnancy
#11
Yoel Sadovky, Aaron B Caughey, Michelle DiVito, Mary E D'Alton, Amy P Murtha
Common disorders of pregnancy, such as preeclampsia, preterm birth, and fetal growth abnormalities, continue to challenge perinatal biologists seeking insights into disease pathogenesis that will result in better diagnosis, therapy, and disease prevention. These challenges have recently been intensified with discoveries that associate gestational diseases with long-term maternal and neonatal outcomes. Whereas modern high-throughput investigative tools enable scientists and clinicians to non-invasively probe the maternal-fetal genome, epigenome, and other analytes, their implications for clinical medicine remain uncertain...
October 6, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28990860/in-a-genomic-era-placental-pathology-still-holds-the-key-in-the-nondysmorphic-stillbirth
#12
Jamie Campbell, Kristy Armstrong, Nithiya Palaniappan, Eddy Maher, Mary Glancy, Mary Porteous, Kathryn J Mckenzie, Margaret J Evans
Objective To explore the relative utility of genetic testing in contrast to placental pathology in explaining causation of death in the structurally normal stillborn population. Methods A retrospective review of a structurally normal stillborn infant cohort in South East Scotland between 2011 and 2015, defined by death at or after 24 weeks of gestation. We reviewed pathology reports and collected demographic data on cases. This information was collated with genetic test results (quantitative fluorescent polymerase chain reaction and microarray analysis) and placental pathology to create a database for analysis...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28990592/maternal-and-fetal-genetic-contribution-to-gestational-weight-gain
#13
N M Warrington, R Richmond, B Fenstra, R Myhre, R Gaillard, L Paternoster, C A Wang, R N Beaumont, S Das, M Murcia, S J Barton, A Espinosa, E Thiering, M Atalay, N Pitkänen, I Ntalla, A E Jonsson, R Freathy, V Karhunen, C M T Tiesler, C Allard, A Crawford, S M Ring, M Melbye, P Magnus, F Rivadeneira, L Skotte, T Hansen, J Marsh, M Guxens, J W Holloway, H Grallert, V W V Jaddoe, W L Lowe, T Roumeliotaki, A T Hattersley, V Lindi, K Pahkala, K Panoutsopoulou, M Standl, C Flexeder, L Bouchard, E A Nohr, L S Marina, M Kogevinas, H Niinikoski, G Dedoussis, J Heinrich, R M Reynolds, T Lakka, E Zeggini, O T Raitakari, L Chatzi, H M Inskip, M Bustamante, M-F Hivert, M-R Jarvelin, T I A Sørensen, C Pennell, J F Felix, B Jacobsson, F Geller, D M Evans, D A Lawlor
BACKGROUND: Clinical recommendations to limit gestational weight gain (GWG) imply high GWG is causally related to adverse outcomes in mother or offspring, but GWG is the sum of several inter-related complex phenotypes (maternal fat deposition and vascular expansion, placenta, amniotic fluid and fetal growth). Understanding the genetic contribution to GWG could help clarify the potential effect of its different components on maternal and offspring health. Here we explore the genetic contribution to total, early and late GWG...
October 9, 2017: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/28988726/placenta-specific-gene-manipulation-using-lentiviral-vector-and-its-application
#14
Tomohiro Tobita, Daiji Kiyozumi, Masahito Ikawa
The placenta is an essential organ for embryo development in the uterus of eutherian mammals. Large contributions in unveiling molecular mechanisms and physiological functions underlying placental formation were made by analyzing mutant and transgenic animals. However, it had been difficult to elucidate whether the placental defects observed in such animals originate from the placenta itself or from the fetus, as both placental and fetal genomes are modified. Therefore strategies to modify the placental genome without affecting the "fetal genome" had been needed...
September 28, 2017: Placenta
https://www.readbyqxmd.com/read/28985318/nonhuman-primates-a-vital-model-for-basic-and-applied-research-on-female-reproduction-prenatal-development-and-women-s-health
#15
Richard L Stouffer, Teresa K Woodruff
The comparative biology of reproduction and development in mammalian species is remarkable. Hence, because of similarities in environmental and neuroendocrine control of the reproductive axis, the cyclic function of the ovary and reproductive tract, establishment and control of the maternal-fetal-placental unit during pregnancy, and reproductive aging from puberty through menopause, nonhuman primates (NHPs) are valuable models for research related to women's reproductive health and its disorders. This chapter provides examples of research over the past 10+ years using Old World monkeys (notably macaque species), baboons, and to a lesser extent New World monkeys (especially marmosets) that contributed to our understanding of the etiology and therapies or prevention of: (1) ovarian disorders, e...
August 28, 2017: ILAR Journal
https://www.readbyqxmd.com/read/28982650/incidental-detection-of-maternal-neoplasia-in-noninvasive-prenatal-testing
#16
Nilesh G Dharajiya, Daniel S Grosu, Daniel H Farkas, Ron M McCullough, Eyad Almasri, Youting Sun, Sung K Kim, Taylor J Jensen, Juan-Sebastian Saldivar, Eric J Topol, Dirk van den Boom, Mathias Ehrich
BACKGROUND: Noninvasive prenatal testing (NIPT) uses cell-free DNA (cfDNA)(5) as an analyte to detect copy-number alterations in the fetal genome. Because maternal and fetal cfDNA contributions are comingled, changes in the maternal genome can manifest as abnormal NIPT results. Circulating tumor DNA (ctDNA) present in cases of maternal neoplasia has the potential to distort the NIPT readout to a degree that prevents interpretation, resulting in a nonreportable test result for fetal aneuploidy...
October 5, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28981935/-application-of-array-comparative-genomic-hybridization-analysis-for-fetuses-with-growth-anomalies
#17
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/28981462/gh-igf-1-signaling-and-current-knowledge-of-epigenetics-a-review-and-considerations-on-possible-therapeutic-options
#18
REVIEW
Francisco Álvarez-Nava, Roberto Lanes
Epigenetic mechanisms play an important role in the regulation of the Growth Hormone- Insulin-like Growth Factor 1 (GH-IGF1) axis and in processes for controlling long bone growth, and carbohydrate and lipid metabolism. Improvement of methodologies that allow for the assessment of epigenetic regulation have contributed enormously to the understanding of GH action, but many questions still remain to be clarified. The reversible nature of epigenetic factors and, particularly, their role as mediators between the genome and the environment, make them viable therapeutic target candidates...
October 5, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28978694/identification-of-il-40-a-novel-b-cell-associated-cytokine
#19
Jovani Catalan-Dibene, Monica I Vazquez, Van Phi Luu, Sean-Paul Nuccio, Alborz Karimzadeh, Jenna M Kastenschmidt, S Armando Villalta, Irina Ushach, Egest J Pone, Paolo Casali, Manuela Raffatellu, Amanda M Burkhardt, Marcela Hernandez-Ruiz, Gina Heller, Peter A Hevezi, Albert Zlotnik
We describe a novel B cell-associated cytokine, encoded by an uncharacterized gene (C17orf99; chromosome 17 open reading frame 99), that is expressed in bone marrow and fetal liver and whose expression is also induced in peripheral B cells upon activation. C17orf99 is only present in mammalian genomes, and it encodes a small (∼27-kDa) secreted protein unrelated to other cytokine families, suggesting a function in mammalian immune responses. Accordingly, C17orf99 expression is induced in the mammary gland upon the onset of lactation, and a C17orf99(-/-) mouse exhibits reduced levels of IgA in the serum, gut, feces, and lactating mammary gland...
October 4, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28978305/implementing-non-invasive-prenatal-testing-into-publicly-funded-antenatal-screening-services-for-down-syndrome-and-other-conditions-in-aotearoa-new-zealand
#20
Sara Filoche, Fiona Cram, Bev Lawton, Angela Beard, Peter Stone
BACKGROUND: Non-invasive prenatal testing (NIPT) is a relatively new screen for congenital conditions - specifically, common fetal aneuploidies including Down Syndrome. The test is based on isolating freely circulating fragments of fetal-placental DNA that is present in the mother's blood. NIPT has a superior clinical performance compared to current screening, and has been available privately in Aotearoa New Zealand for the last 4 years. MAIN ISSUE: The proposed implementation of NIPT as a publicly funded service may widen the inequity in access to optional antenatal screening that already exists in this country...
October 4, 2017: BMC Pregnancy and Childbirth
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