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https://www.readbyqxmd.com/read/29220483/prenatal-exposure-to-bisphenol-a-disrupts-naturally-occurring-bimodal-dna-methylation-at-proximal-promoter-of-fggy-an-obesity-relevant-gene-encoding-a-carbohydrate-kinase-in-gonadal-white-adipose-tissues-of-cd-1-mice
#1
Julia A Taylor, Keiko Shioda, Shino Mitsunaga, Shiomi Yawata, Brittany M Angle, Susan C Nagel, Frederick S Vom Saal, Toshi Shioda
Exposure of mammalian fetuses to endocrine disruptors can increase the risk of adult-onset diseases. For example, we previously showed that exposure of mouse fetuses to bisphenol A (BPA) caused adult-onset obesity. To obtain insights into roles of epigenetic changes in the delayed toxic effects of endocrine disruption, we determined effects of fetal mouse exposure to BPA on genome-wide DNA methylation and mRNA expression in gonadal white adipose tissues by deep sequencing (MBD-seq and RNA-seq), bisulfite pyrosequencing, and real-time qPCR...
December 6, 2017: Endocrinology
https://www.readbyqxmd.com/read/29215645/cherchez-la-femme-maternal-incidental-findings-can-explain-discordant-prenatal-cell-free-dna-sequencing-results
#2
REVIEW
Diana W Bianchi
Circulating DNA fragments in a pregnant woman's plasma derive from three sources: placenta, maternal bone marrow, and fetus. Prenatal sequencing to noninvasively screen for fetal chromosome abnormalities is performed on this mixed sample; results can therefore reflect the maternal as well as the fetoplacental DNA. Although it is recommended that pretest counseling include the possibility of detecting maternal genomic imbalance, this seldom occurs. Maternal abnormalities that can affect a prenatal screening test result include disorders that affect the size and metabolism of DNA, such as B12 deficiency, autoimmune disease, and intrahepatic cholestasis of pregnancy...
December 7, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29213331/noninvasive-prenatal-diagnosis-of-fetal-aneuploidy-by-circulating-fetal-nucleated-red-blood-cells-and-extravillous-trophoblasts-using-silicon-based-nanostructured-microfluidics
#3
Chung-Er Huang, Gwo-Chin Ma, Hei-Jen Jou, Wen-Hsiang Lin, Dong-Jay Lee, Yi-Shing Lin, Norman A Ginsberg, Hsin-Fu Chen, Frank Mau-Chung Chang, Ming Chen
Background: Noninvasive prenatal testing (NIPT) based on cell-free DNA in maternal circulation has been accepted worldwide by the clinical community since 2011 but limitations, such as maternal malignancy and fetoplacental mosaicism, preclude its full replacement of invasive prenatal diagnosis. We present a novel silicon-based nanostructured microfluidics platform named as "Cell Reveal™" to demonstrate the feasibility of capturing circulating fetal nucleated red blood cells (fnRBC) and extravillous cytotrophoblasts (EVT) for cell-based noninvasive prenatal diagnosis (cbNIPD)...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29198719/multiethnic-gwas-reveals-polygenic-architecture-of-earlobe-attachment
#4
John R Shaffer, Jinxi Li, Myoung Keun Lee, Jasmien Roosenboom, Ekaterina Orlova, Kaustabh Adhikari, Carla Gallo, Giovanni Poletti, Lavinia Schuler-Faccini, Maria-Cátira Bortolini, Samuel Canizales-Quinteros, Francisco Rothhammer, Gabriel Bedoya, Rolando González-José, Paige E Pfeffer, Christopher A Wollenschlaeger, Jacqueline T Hecht, George L Wehby, Lina M Moreno, Anan Ding, Li Jin, Yajun Yang, Jenna C Carlson, Elizabeth J Leslie, Eleanor Feingold, Mary L Marazita, David A Hinds, Timothy C Cox, Sijia Wang, Andrés Ruiz-Linares, Seth M Weinberg
The genetic basis of earlobe attachment has been a matter of debate since the early 20th century, such that geneticists argue both for and against polygenic inheritance. Recent genetic studies have identified a few loci associated with the trait, but large-scale analyses are still lacking. Here, we performed a genome-wide association study of lobe attachment in a multiethnic sample of 74,660 individuals from four cohorts (three with the trait scored by an expert rater and one with the trait self-reported). Meta-analysis of the three expert-rater-scored cohorts revealed six associated loci harboring numerous candidate genes, including EDAR, SP5, MRPS22, ADGRG6 (GPR126), KIAA1217, and PAX9...
November 21, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29197740/gene-set-enrichment-analysis-and-expression-pattern-exploration-implicate-an-involvement-of-neurodevelopmental-processes-in-bipolar-disorder
#5
Thomas W Mühleisen, Céline S Reinbold, Andreas J Forstner, Lilia I Abramova, Martin Alda, Gulja Babadjanova, Michael Bauer, Paul Brennan, Alexander Chuchalin, Cristiana Cruceanu, Piotr M Czerski, Franziska Degenhardt, Sascha B Fischer, Janice M Fullerton, Scott D Gordon, Maria Grigoroiu-Serbanescu, Paul Grof, Joanna Hauser, Martin Hautzinger, Stefan Herms, Per Hoffmann, Jutta Kammerer-Ciernioch, Elza Khusnutdinova, Manolis Kogevinas, Valery Krasnov, André Lacour, Catherine Laprise, Markus Leber, Jolanta Lissowska, Susanne Lucae, Anna Maaser, Wolfgang Maier, Nicholas G Martin, Manuel Mattheisen, Fermin Mayoral, James D McKay, Sarah E Medland, Philip B Mitchell, Susanne Moebus, Grant W Montgomery, Bertram Müller-Myhsok, Lilijana Oruc, Galina Pantelejeva, Andrea Pfennig, Lejla Pojskic, Alexey Polonikov, Andreas Reif, Fabio Rivas, Guy A Rouleau, Lorena M Schenk, Peter R Schofield, Markus Schwarz, Fabian Streit, Jana Strohmaier, Neonila Szeszenia-Dabrowska, Alexander S Tiganov, Jens Treutlein, Gustavo Turecki, Helmut Vedder, Stephanie H Witt, Thomas G Schulze, Marcella Rietschel, Markus M Nöthen, Sven Cichon
BACKGROUND: Bipolar disorder (BD) is a common and highly heritable disorder of mood. Genome-wide association studies (GWAS) have identified several independent susceptibility loci. In order to extract more biological information from GWAS data, multi-locus approaches represent powerful tools since they utilize knowledge about biological processes to integrate functional sets of genes at strongly to moderately associated loci. METHODS: We conducted gene set enrichment analyses (GSEA) using 2...
November 14, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29188632/-advance-in-clinical-application-of-non-invasive-prenatal-screening-using-cell-free-fetal-dna
#6
Jilin Hu, Baosheng Zhu
Non-invasive prenatal screening using cell-free fetal DNA (NIPS) has been integrated into the prenatal health care only in a short span of five years, and the guidelines provided by professional bodies have been continuously updated. The American College of Medical Genetics and Genomics has made a statement on NIPS in July, 2016, suggesting that the NIPS can replace conventional screening for Patau, Edwards and Down syndromes in a continuum of gestational age and for any maternal age, except those who are significantly obese...
December 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29188616/-prenatal-diagnosis-of-a-tetrasomy-18p-case-using-bacs-on-beads-technology-and-single-nucleotide-polymorphism-array
#7
Huling Jiang, Zepeng Ping, Luming Wang, Yuxia Jin, Suping Li, Xiaodan Liu, Zhengyou Miao
OBJECTIVE: To determine the origin of a supernumerary small marker chromosome found in a fetus using prenatal BACs-on-Beads (BoBs) and single nucleotide polymorphism array (SNP-array) assays. METHODS: The fetal sample was subjected to chromosomal karyotyping and BoBs analysis, and the results were validated with genome-wide scanning using a SNP microarray. RESULTS: The fetus was found to have a 47,XX,+mar karyotype. BoBs analysis indicated that there was an amplification between 18p11...
December 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29187609/associations-between-imprinted-gene-expression-in-the-placenta-human-fetal-growth-and-preeclampsia
#8
Julian K Christians, Katherine Leavey, Brian J Cox
Genomic imprinting is essential for normal placental and fetal growth. One theory to explain the evolution of imprinting is the kinship theory (KT), which predicts that genes that are paternally expressed will promote fetal growth, whereas maternally expressed genes will suppress growth. We investigated the expression of imprinted genes using microarray measurements of expression in term placentae. Correlations between birthweight and the expression levels of imprinted genes were more significant than for non-imprinted genes, but did not tend to be positive for paternally expressed genes and negative for maternally expressed genes...
November 2017: Biology Letters
https://www.readbyqxmd.com/read/29178652/mutations-in-fetal-genes-involved-in-innate-immunity-and-host-defense-against-microbes-increase-risk-of-preterm-premature-rupture-of-membranes-pprom
#9
Bhavi P Modi, Maria E Teves, Laurel N Pearson, Hardik I Parikh, Hannah Haymond-Thornburg, John L Tucker, Piya Chaemsaithong, Nardhy Gomez-Lopez, Timothy P York, Roberto Romero, Jerome F Strauss
BACKGROUND: Twin studies have revealed a significant contribution of the fetal genome to risk of preterm birth. Preterm premature rupture of membranes (PPROM) is the leading identifiable cause of preterm delivery. Infection and inflammation of the fetal membranes is commonly found associated with PPROM. METHODS: We carried out whole exome sequencing (WES) of genomic DNA from neonates born of African-American mothers whose pregnancies were complicated by PPROM (76) or were normal term pregnancies (N = 43) to identify mutations in 35 candidate genes involved in innate immunity and host defenses against microbes...
November 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29168801/the-histone-code-reader-spin1-controls-skeletal-muscle-development
#10
Holger Greschik, Delphine Duteil, Nadia Messaddeq, Dominica Willmann, Laura Arrigoni, Manuela Sum, Manfred Jung, Daniel Metzger, Thomas Manke, Thomas Günther, Roland Schüle
While several studies correlated increased expression of the histone code reader Spin1 with tumor formation or growth, little is known about physiological functions of the protein. We generated Spin1(M5) mice with ablation of Spin1 in myoblast precursors using the Myf5-Cre deleter strain. Most Spin1(M5) mice die shortly after birth displaying severe sarcomere disorganization and necrosis. Surviving Spin1(M5) mice are growth-retarded and exhibit the most prominent defects in soleus, tibialis anterior, and diaphragm muscle...
November 23, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/29168253/genomewide-association-study-of-hla-alloimmunization-in-previously-pregnant-blood-donors
#11
Mark Seielstad, Grier P Page, Nathan Gaddis, Marion Lanteri, Tzong-Hae Lee, Ram Kakaiya, Lisa F Barcellos, Lindsey A Criswell, Darrell Triulzi, Philip J Norris, Michael P Busch
BACKGROUND: Alloimmunization through blood transfusion, transplantation, or circulating fetal cells during pregnancy is a significant concern. Some exposed individuals make alloantibodies while others do not, implying variation in genetic risk factors. STUDY DESIGN AND METHODS: We conducted a genomewide association study (GWAS) of 9,427,497 single-nucleotide polymorphisms (SNPs) to identify genetic variants for HLA alloimmunization in previously pregnant blood donors with (n = 752) and without (n = 753) HLA Class I or II alloantibodies...
November 22, 2017: Transfusion
https://www.readbyqxmd.com/read/29163438/culture-strategies-for-isolation-of-fastidious-leptospira-serovar-hardjo-and-molecular-differentiation-of-genotypes-hardjobovis-and-hardjoprajitno
#12
Roberta T Chideroli, Daniela D Gonçalves, Suelen A Suphoronski, Alice F Alfieri, Amauri A Alfieri, Admilton G de Oliveira, Julio C de Freitas, Ulisses de Padua Pereira
The Leptospira serovar Hedjo belongs to the serogroup sejroe and this serovar is the most prevalent in bovine herds worldwide. The sejroe serogroup is the most frequently detected by serology in Brazilian cattle herds suggesting that it is due serovar Hardjo. In the molecular classification, this serovar has two genotypes: Hardjobovis and Hardjoprajitno. This serovar is as considered as fastidious pathogens, and their isolation is one of the bottlenecks in leptospirosis laboratories. In addition, its molecular characterization using genomic approaches is oftentimes not simple and time-consuming...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29162857/temporal-expression-pattern-of-genes-during-the-period-of-sex-differentiation-in-human-embryonic-gonads
#13
Linn S Mamsen, Emil H Ernst, Rehannah Borup, Agnete Larsen, Rasmus H Olesen, Erik Ernst, Richard A Anderson, Stine G Kristensen, Claus Y Andersen
The precise timing and sequence of changes in expression of key genes and proteins during human sex-differentiation and onset of steroidogenesis was evaluated by whole-genome expression in 67 first trimester human embryonic and fetal ovaries and testis and confirmed by qPCR and immunohistochemistry (IHC). SRY/SOX9 expression initiated in testis around day 40 pc, followed by initiation of AMH and steroidogenic genes required for androgen production at day 53 pc. In ovaries, gene expression of RSPO1, LIN28, FOXL2, WNT2B, and ETV5, were significantly higher than in testis, whereas GLI1 was significantly higher in testis than ovaries...
November 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29160033/discordant-fetal-phenotype-of-hypophosphatasia-in-two-siblings
#14
Satoru Ikenoue, Kei Miyakoshi, Tomohiro Ishii, Yu Sato, Toshimitsu Otani, Yohei Akiba, Yoshifumi Kasuga, Daigo Ochiai, Tadashi Matsumoto, Yosuke Ichihashi, Yohei Matsuzaki, Kanako Tachikawa, Toshimi Michigami, Gen Nishimura, Kazushige Ikeda, Tomonobu Hasegawa, Mamoru Tanaka
Hypophosphatasia (HPP) is an autosomal recessive metabolic disorder with impaired bone mineralization due to mutations in the ALPL gene. The genotype-phenotype correlation of this disorder has been widely described. Here, we present two affected siblings, whose fetal phenotypes were discordant. A 31-year-old Japanese woman, G0P0, was referred to our institution because of fetal micromelia. After obstetric counseling, the pregnancy was terminated at 21 weeks' gestation. Post-mortem radiographs demonstrated severely defective mineralization of the skeleton...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29159826/pharmacological-and-molecular-approaches-for-the-treatment-of-%C3%AE-hemoglobin-disorders
#15
REVIEW
Neelam Lohani, Nupur Bhargava, Anjana Munshi, Sivaprakash Ramalingam
β-hemoglobin disorders, such as β-thalassemia and sickle cell anemia are among the most prevalent inherited genetic disorders worldwide. These disorders are caused by mutations in the gene encoding hemoglobin-β (HBB), a vital protein found in red blood cells (RBCs) that carries oxygen from lungs to all parts of the human body. As a consequence, there has been an enduring interest in this field in formulating therapeutic strategies for the treatment of these diseases. Currently, there is no cure available for hemoglobin disorders, although, some patients have been treated with bone marrow transplantation, whose scope is limited because of the difficulty in finding a histocompatible donor and also due to transplant-associated clinical complications that can arise during the treatment...
November 20, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29157216/breast-cancer-protection-by-genomic-imprinting-in-close-kin-families
#16
REVIEW
Srdjan Denic, Mukesh M Agarwal
Human inbreeding generally reduces breast cancer risk (BCR). When the parents are biologically related, their infants have a lower birth weight due to smaller body organs. The undersized breasts, because of fewer mammary stem cells, have a lower likelihood of malignant conversion. Fetal growth is regulated by genomically imprinted genes which are in conflict; they promote growth when derived from the father and suppress growth when derived from the mother. The kinship theory explicates that the intensity of conflict between these genes affects growth and therefore the size of the newborn...
November 21, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29157033/alteration-in-methylation-level-at-differential-methylated-regions-of-mest-and-dlk1-in-fetus-of-preeclampsia
#17
Xiaoqing Wang, Liuxia Wan, Xiaoling Weng, Jiamin Xie, Aiping Zhang, Yun Liu, Minyue Dong
OBJECTIVES: Offspring born to preeclamptic women are at high risk for metabolic diseases in later life, but the mechanisms are not known. The purposes of the current investigation were to clarify the changes in DNA methylation at MEST and DLK1 DMRs in fetus of preeclampsia and to explore the possible mechanisms behind the high risk of adult diseases in the offspring of preeclampsia. METHODS: Fetal lymphocytes were isolated from umbilical cord blood of 78 women with preeclampsia and 95 women with normal pregnancy...
November 20, 2017: Hypertension in Pregnancy
https://www.readbyqxmd.com/read/29151450/identification-and-expression-analysis-of-cdna-encoding-insulin-like-growth-factor-2-in-horses
#18
Kohta Kikuchi, Keisuke Sasaki, Hiroki Akizawa, Hayato Tsukahara, Hanako Bai, Masashi Takahashi, Yasuo Nambo, Hiroshi Hata, Manabu Kawahara
Insulin-like growth factor 2 (IGF2) is responsible for a broad range of physiological processes during fetal development and adulthood, but genomic analyses of IGF2 containing the 5'- and 3'-untranslated regions (UTRs) in equines have been limited. In this study, we characterized the IGF2 mRNA containing the UTRs, and determined its expression pattern in the fetal tissues of horses. The complete equine IGF2 mRNA sequence harboring another exon approximately 2.8 kb upstream from the canonical transcription start site was identified as a new transcript variant...
November 17, 2017: Journal of Reproduction and Development
https://www.readbyqxmd.com/read/29149523/amniocentesis-is-still-the-best-option-for-advanced-genomic-testing-in-case-of-fetal-malformations
#19
M C de Wit, E M Bunnik, A T J I Go, I D de Beaufort, R M W Hofstra, E A P Steegers, R J H Galjaard
No abstract text is available yet for this article.
November 17, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29149435/equine-herpesvirus-type-1-orf51-encoding-ul11-as-an-essential-gene-for-replication-in-cultured-cells
#20
Yassien Badr, Ayaka Okada, Rania Abo-Sakaya, Emad Beshir, Kenji Ohya, Hideto Fukushi
Equine herpesvirus type 1 (EHV-1) UL11 is a 74-amino-acid tegument protein encoded by ORF51 of the EHV-1 genome. EHV-1 UL11 was previously reported by other researchers using the RacL22 and RacH strains to be nonessential for viral replication in cultured cells. Here, we constructed UL11 mutant viruses including a UL11 null mutant and three C-terminal truncated mutants, for further characterization of EHV-1 UL11 using bacterial artificial chromosome (BAC) technology based on the neuropathogenic strain Ab4p...
November 17, 2017: Archives of Virology
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