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https://www.readbyqxmd.com/read/29675560/patterns-of-differential-gene-expression-in-a-cellular-model-of-human-islet-development-and-relationship-to-type-2-diabetes-predisposition
#1
Marta Perez-Alcantara, Christian Honoré, Agata Wesolowska-Andersen, Anna L Gloyn, Mark I McCarthy, Mattias Hansson, Nicola L Beer, Martijn van de Bunt
AIMS/HYPOTHESIS: Most type 2 diabetes-associated genetic variants identified via genome-wide association studies (GWASs) appear to act via the pancreatic islet. Observed defects in insulin secretion could result from an impact of these variants on islet development and/or the function of mature islets. Most functional studies have focused on the latter, given limitations regarding access to human fetal islet tissue. Capitalising upon advances in in vitro differentiation, we characterised the transcriptomes of human induced pluripotent stem cell (iPSC) lines differentiated along the pancreatic endocrine lineage, and explored the contribution of altered islet development to the pathogenesis of type 2 diabetes...
April 19, 2018: Diabetologia
https://www.readbyqxmd.com/read/29661028/development-of-large-scale-manufacturing-of-adipose-derived-stromal-cells-for-clinical-applications-using-bioreactors-and-human-platelet-lysate
#2
Mandana Haack-Sørensen, Morten Juhl, Bjarke Follin, Rebekka Harary Søndergaard, Maria Kirchhoff, Jens Kastrup, Annette Ekblond
In vitro expanded adipose-derived stromal cells (ASCs) are a useful resource for tissue regeneration. Translation of small-scale autologous cell production into a large-scale, allogeneic production process for clinical applications necessitates well-chosen raw materials and cell culture platform. We compare the use of clinical-grade human platelet lysate (hPL) and fetal bovine serum (FBS) as growth supplements for ASC expansion in the automated, closed hollow fibre quantum cell expansion system (bioreactor)...
April 17, 2018: Scandinavian Journal of Clinical and Laboratory Investigation
https://www.readbyqxmd.com/read/29653009/-cytogenetic-and-molecular-genetic-analysis-of-the-amniotic-fluid-cells-of-a-fetus-with-pseudodicentric-isochromosome-22-resulting-in-partial-tetraploidy-of-22q
#3
Yanyan Shen, Hui Kong, Huan Zeng, Qiong Wu, Jiayan Chen, Dongxing Zhou, Jian Zhang, Yunsheng Ge, Feng Ding
OBJECTIVE: To diagnose chromosomal abnormalities in amniotic fluid cells by combining karyotyping and single nucleotide polymorphism array (SNP-array) analysis, and to explore the application of SNP-array in routine clinical practice. METHODS: Conventional G banding was used to karyotype a fetal amniotic fluid sample and the corresponding peripheral blood samples from the parents, followed by SNP-array analysis of the fetal genomic DNA from the amniotic fluid. RESULTS: The karyotype of the amniocytes was 47, XX, +mar...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29653001/-genetic-analysis-of-two-fetuses-with-congenital-heart-defects-and-3q-microdeletion
#4
Wei Long, Jiandong Gu, Jun Ouyang, Saiyu Jia, Bin Zhang, Jianbin Liu, Bin Yu
OBJECTIVE: To determine the nature of genomic copy number variations (CNVs) in two fetuses with congenital heart defects (CHD) and explore the correlation between 3q microdeletions and CHD. METHODS: Genomic DNA was extracted from fetal umbilical cord tissue, and chromosome copy number variations were detected by low coverage whole genome sequencing. RESULTS: Both fetuses had microdeletions of the long arm of chromosome 3. Fetus 1 had ventricular septal defect, cleft lip and palate, and a 1...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29649453/potential-role-of-omics-technique-in-prenatal-diagnosis-of-congenital-heart-defects
#5
REVIEW
Lizhu Chen, Johnny Guan, Qiuju Wei, Zhengwei Yuan, Mo Zhang
Congenital heart defect (CHD) is one of the most common birth defects and is the leading cause of neonatal death. Currently, there are no biomarkers available for prenatal diagnosis of CHD. Clinical strategies to diagnose CHD mostly depend on fetal echocardiography. Recent advances in "omics" techniques have opened up new possibilities for biomarker discoveries. In this review, we discuss recent advances in prenatal detection of CHD using biomarkers obtained by "omics" approaches, including genomics, proteomics, metabolomics, and others...
April 10, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29643508/aspm-knockout-ferret-reveals-an-evolutionary-mechanism-governing-cerebral-cortical-size
#6
Matthew B Johnson, Xingshen Sun, Andrew Kodani, Rebeca Borges-Monroy, Kelly M Girskis, Steven C Ryu, Peter P Wang, Komal Patel, Dilenny M Gonzalez, Yu Mi Woo, Ziying Yan, Bo Liang, Richard S Smith, Manavi Chatterjee, Daniel Coman, Xenophon Papademetris, Lawrence H Staib, Fahmeed Hyder, Joseph B Mandeville, P Ellen Grant, Kiho Im, Hojoong Kwak, John F Engelhardt, Christopher A Walsh, Byoung-Il Bae
The human cerebral cortex is distinguished by its large size and abundant gyrification, or folding. However, the evolutionary mechanisms that drive cortical size and structure are unknown. Although genes that are essential for cortical developmental expansion have been identified from the genetics of human primary microcephaly (a disorder associated with reduced brain size and intellectual disability) 1 , studies of these genes in mice, which have a smooth cortex that is one thousand times smaller than the cortex of humans, have provided limited insight...
April 11, 2018: Nature
https://www.readbyqxmd.com/read/29643044/-clinical-value-of-genome-wide-chromosome-microarray-technique-in-diagnosis-of-fetal-cerebral-ventriculomegaly
#7
Yi-Xian Peng, Yu-Wen Qiu, Qing-Xian Chang, Yan-Hong Yu, Mei Zhong, Kun-Rui Li
OBJECTIVE: To investigate the clinical value of gnome-wide chromosome microarray (CMA) technique in genetic etiological diagnosis of fetal cerebral ventriculomegaly. METHODS: A retrospective analysis was conducted in 109 women with singleton pregnancy, who were admitted in Nanfang Hospital with the diagnosis of cerebral ventriculomegaly in the fetuses by ultrasound between January, 2014 and December, 2016. Routine karyotype analysis and chromosome microarray analysis were performed to identify the chromosomal abnormalities in the fetuses...
March 20, 2018: Nan Fang Yi Ke da Xue Xue Bao, Journal of Southern Medical University
https://www.readbyqxmd.com/read/29642799/placental-defects-an-epigenetic-perspective
#8
Sharvari S Deshpande, Nafisa H Balasinor
Placenta, the first organ to be formed during gestation, plays a crucial role in intrauterine regulation of fetal growth and is involved in several functions during fetal development such as exchange of nutrients, wastes, and gases; protection against maternal immune rejection; and various metabolic and endocrine functions. Several studies have shown the regulation of epigenetic factors and the phenomenon of genomic imprinting in placentation and embryogenesis. Any gain or loss of imprint marks in the placenta has been shown to associate with severe placental defects which in turn affect both the mother and the growing fetus and can have long-term effects during adulthood...
January 1, 2018: Reproductive Sciences
https://www.readbyqxmd.com/read/29623786/identification-of-two-additional-genomic-loci-responsible-for-experimentally-induced-testicular-teratoma-2-and-3-ett2-and-ett3
#9
Takehiro Miyazaki, Manami Fukui, Emi Inagaki, Kenji Miki, Shuji Takabayashi, Hideki Katoh, Yukio Ohira, Motoko Noguchi, Toshinobu Tokumoto
Experimental testicular teratomas (ETTs) can be induced in 129/Sv mouse by E12.5 fetal testes transplant into adult testes. Previously, we conducted linkage analysis to explore candidate genes possibly involved in ETT development using F2 intercross fetuses derived from F1[LTXBJ × 129/Sv- + /Ter (+ /+)] hybrids. By linkage analysis on Chr 18 and Chr 19, we identified the genomic locus for experimental testicular teratoma 1 (ett1) on Chr 18. In the present study, we conducted additional mapping and linkage analysis on teratoma susceptibility and genome composition on Chr 1-17...
April 2018: Zoological Science
https://www.readbyqxmd.com/read/29618827/niptmer-rapid-k-mer-based-software-package-for-detection-of-fetal-aneuploidies
#10
Martin Sauk, Olga Žilina, Ants Kurg, Eva-Liina Ustav, Maire Peters, Priit Paluoja, Anne Mari Roost, Hindrek Teder, Priit Palta, Nathalie Brison, Joris R Vermeesch, Kaarel Krjutškov, Andres Salumets, Lauris Kaplinski
Non-invasive prenatal testing (NIPT) is a recent and rapidly evolving method for detecting genetic lesions, such as aneuploidies, of a fetus. However, there is a need for faster and cheaper laboratory and analysis methods to make NIPT more widely accessible. We have developed a novel software package for detection of fetal aneuploidies from next-generation low-coverage whole genome sequencing data. Our tool - NIPTmer - is based on counting pre-defined per-chromosome sets of unique k-mers from raw sequencing data, and applying linear regression model on the counts...
April 4, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29618007/subphenotype-meta-analysis-of-testicular-cancer-genome-wide-association-study-data-suggests-a-role-for-rbfox-family-genes-in-cryptorchidism-susceptibility
#11
Yanping Wang, Dione R Gray, Alan K Robbins, Erin L Crowgey, Stephen J Chanock, Mark H Greene, Katherine A McGlynn, Katherine Nathanson, Clare Turnbull, Zhaoming Wang, Marcella Devoto, Julia Spencer Barthold
STUDY QUESTION: Can subphenotype analysis of genome-wide association study (GWAS) data from subjects with testicular germ cell tumor (TGCT) provide insight into cryptorchidism (undescended testis, UDT) susceptibility? SUMMARY ANSWER: Suggestive intragenic GWAS signals common to UDT, TGCT case-case and TGCT case-control analyses occur in genes encoding RBFOX RNA-binding proteins (RBPs) and their neurodevelopmental targets. WHAT IS KNOWN ALREADY: UDT is a strong risk factor for TGCT, but while genetic risk factors for TGCT are well-known, genetic susceptibility to UDT is poorly understood and appears to be more complex...
March 29, 2018: Human Reproduction
https://www.readbyqxmd.com/read/29617759/regulation-of-gene-expression-by-thyroid-hormone-in-primary-astrocytes-factors-influencing-the-genomic-response
#12
Beatriz Morte, Pilar Gil-Ibáñez, Juan Bernal
Astrocytes mediate the action of thyroid hormone in the brain on other neural cells through the production of the active hormone triiodothyronine (T3) from its precursor thyroxine (T4). T3 has also many effects on the astrocytes in vivo and in culture, but whether these actions are directly mediated by transcriptional regulation is not clear. In this work we have analyzed the genomic response to T3 of cultured astrocytes isolated from the postnatal mouse cerebral cortex, using RNA sequencing. Cultured astrocytes express relevant genes of thyroid hormone metabolism and action encoding type 2 deiodinase (Dio2), Mct8 transporter (Slc16a2), T3 receptors (Thra1 and Thrb), and nuclear corepressor (Ncor1) and coactivator (Ncoa1)...
April 2, 2018: Endocrinology
https://www.readbyqxmd.com/read/29614629/genetic-modifiers-of-severity-in-sickle-cell-disease
#13
Alicia K Chang, Carly C Ginter Summarell, Parendi T Birdie, Vivien A Sheehan
Sickle cell disease (SCD) is one of the most common single disease disorders world-wide. It is remarkable for its clinical heterogeneity, even among individuals with identical genotypes. Some individuals experience morbidity and mortality in early childhood, while others have a relatively mild course, and normal or near normal life expectancy. Many clinical complications are associated with SCD; most notably frequent pain episodes, stroke, acute chest syndrome, avascular necrosis, nephropathy, retinopathy and pulmonary hypertension...
2018: Clinical Hemorheology and Microcirculation
https://www.readbyqxmd.com/read/29611751/-the-pathogenetic-role-and-expression-profile-of-micrornas-in-preeclampsia
#14
Orsolya Biró, János Rigó
Preeclampsia is the leading cause of maternal and fetal morbidity and mortality that affects 3-8% of pregnancies worldwide. Its main symptoms include new onset of high blood pressure and proteinuria after 20 weeks of pregnancy. The cause of the disease is still debated. microRNAs are short, non-coding RNA molecules that play a pivotal part in the posttranscriptional regulation of eukaryotic genes. They are involved in fine-tuning of vital physiological processes such as cell cycle, proliferation, differentiation and cell death...
April 2018: Orvosi Hetilap
https://www.readbyqxmd.com/read/29610480/dna-methylation-loss-in-late-replicating-domains-is-linked-to-mitotic-cell-division
#15
Wanding Zhou, Huy Q Dinh, Zachary Ramjan, Daniel J Weisenberger, Charles M Nicolet, Hui Shen, Peter W Laird, Benjamin P Berman
DNA methylation loss occurs frequently in cancer genomes, primarily within lamina-associated, late-replicating regions termed partially methylated domains (PMDs). We profiled 39 diverse primary tumors and 8 matched adjacent tissues using whole-genome bisulfite sequencing (WGBS) and analyzed them alongside 343 additional human and 206 mouse WGBS datasets. We identified a local CpG sequence context associated with preferential hypomethylation in PMDs. Analysis of CpGs in this context ('solo-WCGWs') identified previously undetected PMD hypomethylation in almost all healthy tissue types...
April 2, 2018: Nature Genetics
https://www.readbyqxmd.com/read/29608700/trophoblast-retrieval-and-isolation-from-the-cervix-origins-of-cervical-trophoblasts-and-their-potential-value-for-risk-assessment-of-ongoing-pregnancies
#16
Gerit Moser, Sascha Drewlo, Berthold Huppertz, D Randall Armant
BACKGROUND: Early during human development, the trophoblast lineage differentiates to commence placentation. Where the placenta contacts the uterine decidua, extravillous trophoblast (EVT) cells differentiate and invade maternal tissues. EVT cells, identified by expression of HLA-G, invade into uterine blood vessels (endovascular EVT), as well as glands (endoglandular EVT), and open such luminal structures towards the intervillous space of the placenta. Endoglandular invasion diverts the contents of uterine glands to the intervillous space, while glands near the margin of the placenta that also contain endoglandular EVT cells open into the reproductive tract...
March 28, 2018: Human Reproduction Update
https://www.readbyqxmd.com/read/29602297/similarity-and-variation-in-the-insulin-like-growth-factor-2-h19-locus-in-primates
#17
Peter Rotwein
Insulin-like growth factor 2 (IGF2), a small, secreted protein, is critical for fetal and prenatal growth in humans and other mammals. The IGF2 gene and its mouse homologue comprise part of a conserved linkage group that is regulated by parental imprinting, with IGF2/Igf2 being expressed from the paternal chromosome, and the adjacent H19 gene from the maternal chromosome. By using information extracted from public genomic and gene expression databases, this locus now has been analyzed in nine nonhuman primate species representing over 60 million years of evolutionary divergence from a common progenitor...
March 30, 2018: Physiological Genomics
https://www.readbyqxmd.com/read/29602275/study-of-the-effects-of-0-15-terahertz-radiation-on-genome-integrity-of-adult-fibroblasts
#18
Valeria Franchini, Stefania De Sanctis, Jessica Marinaccio, Andrea De Amicis, Elisa Coluzzi, Sara Di Cristofaro, Florigio Lista, Elisa Regalbuto, Andrea Doria, Emilio Giovenale, Gian Piero Gallerano, Roberto Bei, Monica Benvenuto, Laura Masuelli, Ion Udroiu, Antonella Sgura
The applications of Terahertz (THz) technologies have significantly developed in recent years, and the complete understanding of the biological effects of exposure to THz radiation is becoming increasingly important. In a previous study, we found that THz radiation induced genomic damage in fetal fibroblasts. Although these cells demonstrated to be a useful model, exposure of human foetuses to THz radiation is highly improbable. Conversely, THz irradiation of adult dermal tissues is cause of possible concern for some professional and nonprofessional categories...
March 30, 2018: Environmental and Molecular Mutagenesis
https://www.readbyqxmd.com/read/29600283/zika-virus-infection-preferentially-counterbalances-human-peripheral-monocyte-and-or-nk-cell-activity
#19
Fok-Moon Lum, David Lee, Tze-Kwang Chua, Jeslin J L Tan, Cheryl Y P Lee, Xuan Liu, Yongxiang Fang, Bernett Lee, Wearn-Xin Yee, Natasha Y Rickett, Po-Ying Chia, Vanessa Lim, Yee-Sin Leo, David A Matthews, Julian A Hiscox, Lisa F P Ng
Zika virus (ZIKV) has reemerged in the population and caused unprecedented global outbreaks. Here, the transcriptomic consequences of ZIKV infection were studied systematically first in human peripheral blood CD14+ monocytes and monocyte-derived macrophages with high-density RNA sequencing. Analyses of the ZIKV genome revealed that the virus underwent genetic diversification, and differential mRNA abundance was found in host cells during infection. Notably, there was a significant change in the cellular response, with cross talk between monocytes and natural killer (NK) cells as one of the highly identified pathways...
March 2018: MSphere
https://www.readbyqxmd.com/read/29597262/maternal-choline-supplementation-during-normal-murine-pregnancy-alters-the-placental-epigenome-results-of-an-exploratory-study
#20
Sze Ting Cecilia Kwan, Julia H King, Jennifer K Grenier, Jian Yan, Xinyin Jiang, Mark S Roberson, Marie A Caudill
The placental epigenome regulates processes that affect placental and fetal development, and could be mediating some of the reported effects of maternal choline supplementation (MCS) on placental vascular development and nutrient delivery. As an extension of work previously conducted in pregnant mice, the current study sought to explore the effects of MCS on various epigenetic markers in the placenta. RNA and DNA were extracted from placentas collected on embryonic day 15.5 from pregnant mice fed a 1X or 4X choline diet, and were subjected to genome-wide sequencing procedures or mass-spectrometry-based assays to examine placental imprinted gene expression, DNA methylation patterns, and microRNA (miRNA) abundance...
March 28, 2018: Nutrients
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