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https://www.readbyqxmd.com/read/28345240/prenatal-dna-sequencing-clinical-counseling-and-diagnostic-laboratory-considerations
#1
Ahmad N Abou Tayoun, Nancy B Spinner, Heidi L Rehm, Robert C Green, Diana W Bianchi
Clinical diagnostic laboratories are producing next generation sequencing (NGS)-based test results that are becoming increasingly incorporated into patient care. Whole genome and exome sequencing on fetal material derived from amniocytes, chorionic villi, or products of conception is starting to be offered clinically in specialized centers, but it has not yet become routine practice. The technical, interpretation and ethical challenges are greatest in the area of prenatal medicine because the fetus has a limited health history and the physical examination is only indirectly available via prenatal sonography...
March 27, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28337265/pulmonary-surfactant-synthesis-in-mirna-26a-1-mirna-26a-2-double-knockout-mice-generated-using-the-crispr-cas9-system
#2
Ying-Hui Zhang, Li-Zhi Wu, Hong-Lu Liang, Yang Yang, Jie Qiu, Qing Kan, Wen Zhu, Cheng-Ling Ma, Xiao-Yu Zhou
Pulmonary surfactant (PS), which is synthesized by type II alveolar epithelial cells (AECIIs), maintains alveolar integrity by reducing surface tension. Many premature neonates who lack adequate PS are predisposed to developing respiratory distress syndrome (RDS), one of the leading causes of neonatal morbidity and mortality. PS synthesis is influenced and regulated by various factors, including microRNAs. Previous in vitro studies have shown that PS synthesis is regulated by miR-26a in fetal rat AECIIs. This study aimed to investigate the role of miR-26a in PS synthesis in vivo...
2017: American Journal of Translational Research
https://www.readbyqxmd.com/read/28336813/the-innate-immune-response-in-fetal-lung-mesenchymal-cells-targets-vegfr2-expression-and-activity
#3
Rachel M Medal, Amanda M Im, Yasutoshi Yamamoto, Omar Lakhdari, Timothy S Blackwell, Hal M Hoffman, Debashis Sahoo, Lawrence S Prince
In preterm infants, soluble inflammatory mediators target lung mesenchymal cells, disrupting airway and alveolar morphogenesis. However, how mesenchymal cells respond directly to microbial stimuli remains poorly characterized. Our objective was to measure the genome-wide innate immune response in fetal lung mesenchymal cells exposed to the bacterial endotoxin lipopolysaccharide (LPS). Using Affymetrix MoGene 1.0st arrays, we showed that LPS induced expression of unique innate immune transcripts heavily weighted toward CC and CXC family chemokines...
March 23, 2017: American Journal of Physiology. Lung Cellular and Molecular Physiology
https://www.readbyqxmd.com/read/28334351/effects-of-antenatal-maternal-depressive-symptoms-and-socio-economic-status-on-neonatal-brain-development-are-modulated-by-genetic-risk
#4
Anqi Qiu, Mojun Shen, Claudia Buss, Yap-Seng Chong, Kenneth Kwek, Seang-Mei Saw, Peter D Gluckman, Pathik D Wadhwa, Sonja Entringer, Martin Styner, Neerja Karnani, Christine M Heim, Kieran J O'Donnell, Joanna D Holbrook, Marielle V Fortier, Michael J Meaney
This study included 168 and 85 mother-infant dyads from Asian and United States of America cohorts to examine whether a genomic profile risk score for major depressive disorder (GPRSMDD) moderates the association between antenatal maternal depressive symptoms (or socio-economic status, SES) and fetal neurodevelopment, and to identify candidate biological processes underlying such association. Both cohorts showed a significant interaction between antenatal maternal depressive symptoms and infant GPRSMDD on the right amygdala volume...
March 18, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28317136/noninvasive-prenatal-screening-at-low-fetal-fraction-comparing-whole-genome-sequencing-and-single-nucleotide-polymorphism-methods
#5
Carlo G Artieri, Carrie Haverty, Eric A Evans, James D Goldberg, Imran S Haque, Yuval Yaron, Dale Muzzey
OBJECTIVE: Performance of noninvasive prenatal screening (NIPS) methodologies when applied to low fetal fraction samples is not well established. The single-nucleotide polymorphism (SNP) method fails samples below a predetermined fetal fraction threshold, whereas some laboratories employing the whole-genome sequencing (WGS) method report aneuploidy calls for all samples. Here, the performance of the two methods was compared to determine which approach actually detects more fetal aneuploidies...
March 20, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28306738/comparative-evaluation-of-the-minimally-invasive-karyotyping-mink-algorithm-for-non-invasive-prenatal-testing
#6
Tianjiao Chu, Patricia A Shaw, Suveyda Yeniterzi, Mary Dunkel, Aleksander Rajkovic, W Allen Hogge, Kimberly D Bunce, David G Peters
Minimally Invasive Karyotyping (MINK) was communicated in 2009 as a novel method for the non-invasive detection of fetal copy number anomalies in maternal plasma DNA. The original manuscript illustrated the potential of MINK using a model system in which fragmented genomic DNA obtained from a trisomy 21 male individual was mixed with that of his karyotypically normal mother at dilutions representing fetal fractions found in maternal plasma. Although it has been previously shown that MINK is able to non-invasively detect fetal microdeletions, its utility for aneuploidy detection in maternal plasma has not previously been demonstrated...
2017: PloS One
https://www.readbyqxmd.com/read/28301696/toward-an-ethically-sensitive-implementation-of-noninvasive-prenatal-screening-in-the-global-context
#7
Jessica Mozersky, Vardit Ravitsky, Rayna Rapp, Marsha Michie, Subhashini Chandrasekharan, Megan Allyse
Noninvasive prenatal screening using cell-free DNA, which analyzes placental DNA circulating in maternal blood to provide information about fetal chromosomal disorders early in pregnancy and without risk to the fetus, has been hailed as a potential "paradigm shift" in prenatal genetic screening. Commercial provision of cell-free DNA screening has contributed to a rapid expansion of the tests included in the screening panels. The tests can include screening for sex chromosome anomalies, rare subchromosomal microdeletions and aneuploidies, and most recently, the entire fetal genome...
March 2017: Hastings Center Report
https://www.readbyqxmd.com/read/28293907/how-can-genetic-studies-help-us-to-understand-links-between-birth-weight-and-type-2-diabetes
#8
REVIEW
Robin N Beaumont, Momoko Horikoshi, Mark I McCarthy, Rachel M Freathy
PURPOSE OF REVIEW: In observational epidemiology, both low and high birth weights are associated with later type 2 diabetes. The mechanisms underlying the associations are poorly understood. We review evidence for the roles of genetic and non-genetic factors linking both sides of the birth weight distribution to risk of type 2 diabetes, focusing on contributions made by the most recent genome-wide association studies (GWAS) of birth weight. RECENT FINDINGS: There are now nine genetic loci robustly implicated in both fetal growth and type 2 diabetes...
April 2017: Current Diabetes Reports
https://www.readbyqxmd.com/read/28292546/novel-insights-into-host-responses-and-reproductive-pathophysiology-of-porcine-reproductive-and-respiratory-syndrome-caused-by-prrsv-2
#9
REVIEW
John C S Harding, Andrea Ladinig, Predrag Novakovic, Susan E Detmer, Jamie M Wilkinson, Tianfu Yang, Joan K Lunney, Graham S Plastow
A large challenge experiment using North American porcine reproductive and respiratory virus (PRRSV-2) provided new insights into the pathophysiology of reproductive PRRS. Deep phenotyping of dams and fetuses identified maternal and fetal predictors of PRRS severity and resilience. PRRSV infection resulted in dramatic decreases in all leukocyte subsets by 2days post inoculation. Apoptosis in the interface region was positively related to endometrial vasculitis, viral load in endometrium and fetal thymus, and odds of meconium staining...
March 2, 2017: Veterinary Microbiology
https://www.readbyqxmd.com/read/28281142/role-of-dna-methylation-in-imprinting-disorders-an-updated-review
#10
REVIEW
Amr Rafat Elhamamsy
Genomic imprinting is a complex epigenetic process that contributes substantially to embryogenesis, reproduction, and gametogenesis. Only small fraction of genes within the whole genome undergoes imprinting. Imprinted genes are expressed in a monoallelic parent-of-origin-specific manner, which means that only one of the two inherited alleles is expressed either from the paternal or maternal side. Imprinted genes are typically arranged in clusters controlled by differentially methylated regions or imprinting control regions...
March 9, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28278235/a-novel-zika-virus-mouse-model-reveals-strain-specific-differences-in-virus-pathogenesis-and-host-inflammatory-immune-responses
#11
Shashank Tripathi, Vinod R M T Balasubramaniam, Julia A Brown, Ignacio Mena, Alesha Grant, Susana V Bardina, Kevin Maringer, Megan C Schwarz, Ana M Maestre, Marion Sourisseau, Randy A Albrecht, Florian Krammer, Matthew J Evans, Ana Fernandez-Sesma, Jean K Lim, Adolfo García-Sastre
Zika virus (ZIKV) is a mosquito borne flavivirus, which was a neglected tropical pathogen until it emerged and spread across the Pacific Area and the Americas, causing large human outbreaks associated with fetal abnormalities and neurological disease in adults. The factors that contributed to the emergence, spread and change in pathogenesis of ZIKV are not understood. We previously reported that ZIKV evades cellular antiviral responses by targeting STAT2 for degradation in human cells. In this study, we demonstrate that Stat2-/- mice are highly susceptible to ZIKV infection, recapitulate virus spread to the central nervous system (CNS), gonads and other visceral organs, and display neurological symptoms...
March 9, 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28260505/copy-number-variations-with-isolated-fetal-ventriculomegaly
#12
P Hu, Y Wang, R Sun, L Cao, X Chen, C Liu, C Luo, D Ma, W Wang, X Fu, W Shi, S Yi, K Zhang, H Liu, Z Xu
BACKGROUND: Copy Number Variations (CNVs) are an important genetic cause of a number of neurodevelopmental disorders (NDs). However, the association between CNVs and the development and prognosis of isolated fetal ventriculomegaly (IMV) is unclear. OBJECTIVES: To investigate possible associations between CNVs and the development of fetal IMV. METHODS: This retrospective study recruited 154 subjects with ultrasound-confirmed fetal IMV and 190 subjects in a control cohort who underwent a high-risk prenatal serum screening program...
March 3, 2017: Current Molecular Medicine
https://www.readbyqxmd.com/read/28257857/generation-of-a-transgenic-cashmere-goat-using-the-piggybac-transposition-system
#13
Ding-Ping Bai, Ming-Ming Yang, Lei Qu, Yu-Lin Chen
The development of transgenic technologies in the Cashmere goat (Capra hircus) has the potential to improve the quality of the meat and wool. The piggyBac (PB) transposon system is highly efficient and can be used to transpose specific target genes into the genome. Here, we developed a PB transposon system to produce transgenic Cashmere goat fetal fibroblasts (GFFs) with the enhanced green fluorescent protein (EGFP). We then used the genetically modified GFFs as nuclear donors to generate transgenic embryos by somatic cell nuclear transfer (SCNT)...
April 15, 2017: Theriogenology
https://www.readbyqxmd.com/read/28256047/maternal-mutations-of-foxf1-cause-alveolar-capillary-dysplasia-despite-not-being-imprinted
#14
Miguel Alsina Casanova, Ana Monteagudo-Sánchez, Luciana Rodiguez Guerineau, Franck Court, Isabel Gazquez Serrano, Loreto Martorell, Carlota Rovira Zurriaga, Gudrun E Moore, Miho Ishida, Montserrat Castañon, Elisenda Moliner Calderon, David Monk, Julio Moreno Hernando
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare cause of pulmonary hypertension in newborns. Maternally inherited point mutations in Forkhead Box F1 gene (FOXF1), deletions of the gene, or its long-range enhancers on the maternal allele are responsible for this neonatal lethal disorder. Here, we describe monozygotic twins and one full-term newborn with ACD and gastrointestinal malformations caused by de novo mutations of FOXF1 on the maternal-inherited alleles. Since this parental transmission is consistent with genomic imprinting, the parent-of-origin specific monoallelic expression of genes, we have undertaken a detailed analysis of both allelic expression and DNA methylation...
March 3, 2017: Human Mutation
https://www.readbyqxmd.com/read/28251419/transcriptome-profile-of-the-human-placenta
#15
Marta Majewska, Aleksandra Lipka, Lukasz Paukszto, Jan Pawel Jastrzebski, Kamil Myszczynski, Marek Gowkielewicz, Marcin Jozwik, Mariusz Krzysztof Majewski
The human placenta is a particular organ that inseparably binds the mother and the fetus. The proper development and survival of the conceptus relies on the essential interplay between maternal and fetal factors involved in cooperation within the placenta. In our study, high-throughput sequencing (RNA-seq) was applied to analyze the global transcriptome of the human placenta during uncomplicated pregnancies. The RNA-seq was utilized to identify the global pattern of the gene expression in placentas (N = 4) from women in single and twin pregnancies...
March 1, 2017: Functional & Integrative Genomics
https://www.readbyqxmd.com/read/28249166/varying-intolerance-of-gene-pathways-to-mutational-classes-explain-genetic-convergence-across-neuropsychiatric-disorders
#16
Shahar Shohat, Eyal Ben-David, Sagiv Shifman
Genetic susceptibility to intellectual disability (ID), autism spectrum disorder (ASD), and schizophrenia (SCZ) often arises from mutations in the same genes, suggesting that they share common mechanisms. We studied genes with de novo mutations in the three disorders and genes implicated in SCZ by genome-wide association study (GWAS). Using biological annotations and brain gene expression, we show that mutation class explains enrichment patterns more than specific disorder. Genes with loss-of-function mutations and genes with missense mutations were associated with different pathways across disorders...
February 28, 2017: Cell Reports
https://www.readbyqxmd.com/read/28247551/characterization-of-chromosomal-abnormalities-in-pregnancy-losses-reveals-critical-genes-and-loci-for-human-early-development
#17
Yiyun Chen, Justin Bartanus, Desheng Liang, Hongmin Zhu, Amy M Breman, Janice L Smith, Hua Wang, Zhilin Ren, Ankita Patel, Pawel Stankiewicz, David S Cram, Sau Wai Cheung, Lingqian Wu, Fuli Yu
Detailed characterization of chromosomal abnormalities, a common cause for congenital abnormalities and pregnancy loss, is critical for elucidating genes for human fetal development. Here, 2186 product of conception (POC) samples were tested for copy number variations (CNVs) at two clinical diagnostic centers using whole genome sequencing and high-resolution chromosomal microarray analysis. We developed a new gene discovery approach to predict potential developmental genes and identified 275 candidate genes from CNVs detected from both datasets...
February 28, 2017: Human Mutation
https://www.readbyqxmd.com/read/28237347/generation-of-lif-independent-induced-pluripotent-stem-cells-from-canine-fetal-fibroblasts
#18
N J N Gonçalves, F F Bressan, K C S Roballo, F V Meirelles, P L P Xavier, H Fukumasu, C Williams, M Breen, S Koh, R Sper, J Piedrahita, C E Ambrósio
Takahashi and Yamanaka established the first technique in which transcription factors related to pluripotency are incorporated into the genome of somatic cells to enable reprogramming of these cells. The expression of these transcription factors enables a differentiated somatic cell to reverse its phenotype to an embryonic state, generating induced pluripotent stem cells (iPSCs). iPSCs from canine fetal fibroblasts were produced through lentiviral polycistronic human and mouse vectors (hOSKM/mOSKM), aiming to obtain pluripotent stem cells with similar features to embryonic stem cells (ESC) in this animal model...
April 1, 2017: Theriogenology
https://www.readbyqxmd.com/read/28235828/independent-maternal-and-fetal-genetic-effects-on-mid-gestational-circulating-levels-of-environmental-pollutants
#19
Michela Traglia, Lisa A Croen, Kristen Lyall, Gayle C Windham, Marty Kharrazi, Gerald N DeLorenze, Anthony R Torres, Lauren A Weiss
Maternal exposure to environmental pollutants could affect fetal brain development and increase autism spectrum disorder (ASD) risk in conjunction with differential genetic susceptibility. Organohalogen congeners measured in maternal mid-pregnancy blood samples have recently shown significant, but negative associations with offspring ASD outcome. We report the first large scale maternal and fetal genetic study of the mid-pregnancy serum levels of a set of 21 organohalogens in a subset of 790 genotyped women and 764 children collected in California by the Early Markers for Autism (EMA) Project...
February 24, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28230233/establishment-and-growth-responses-of-nile-tilapia-embryonic-stem-like-cell-lines-under-feeder-free-condition
#20
Zhenhua Fan, Linyan Liu, Xiaohuan Huang, Yang Zhao, Linyan Zhou, Deshou Wang, Jing Wei
Embryonic stem (ES) cells provide an invaluable tool for molecular analysis of vertebrate development and a bridge linking genomic manipulations in vitro and functional analysis of target genes in vivo. Work towards fish ES cells so far has focused on zebrafish (Danio renio) and medaka (Oryzias latipes). Here we describe the derivation, pluripotency, differentiation and growth responses of ES cell lines from Nile tilapia (Oreochromis niloticus), a world-wide commercial farmed fish. These cell lines, designated as TES1-3, were initiated from blastomeres of Nile tilapia middle blastula embryos (MBE)...
February 2017: Development, Growth & Differentiation
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