keyword
MENU ▼
Read by QxMD icon Read
search

Fetal genome

keyword
https://www.readbyqxmd.com/read/28649287/regulating-role-of-fetal-thyroid-hormones-on-placental-mitochondrial-dna-methylation-epidemiological-evidence-from-the-environage-birth-cohort-study
#1
Bram G Janssen, Hyang-Min Byun, Harry A Roels, Wilfried Gyselaers, Joris Penders, Andrea A Baccarelli, Tim S Nawrot
BACKGROUND: Fetal development largely depends on thyroid hormone availability and proper placental function with an important role played by placental mitochondria. The biological mechanisms by which thyroid hormones exert their effects on mitochondrial function are not well understood. We investigated the role of fetal thyroid hormones on placental mitochondrial DNA (mtDNA) content and mtDNA methylation. We collected placental tissue and cord blood from 305 mother-child pairs that were enrolled between February 2010 and June 2014 in the ENVIRONAGE (ENVIRonmental influence ON early AGEing) birth cohort (province of Limburg, Belgium)...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28641477/application-of-whole-genome-sequencing-technology-in-the-investigation-of-genetic-causes-of-fetal-perinatal-and-early-infant-death
#2
Jane E Armes, Mark Williams, Gareth Price, Tristan Wallis, Renee Gallagher, Admire Matsika, Christopher Joy, Melanie Galea, Glenn Gardener, Rick Leach, Sigrid Ma Swagemakers, Rick Tearle, Andrew Stubbs, James Harraway, Peter J van der Spek, Deon J Venter
Death in the fetal, perinatal, and early infant age-group has a multitude of causes, a proportion of which is presumed to be genetic. Defining a specific genetic aberration leading to the death is problematic at this young age, due to limited phenotype-genotype correlation inherent in the underdeveloped phenotype, the inability to assess certain phenotypic traits after death, and the problems of dealing with rare disorders. In this study, our aim was to increase the yield of identification of a defined genetic cause of an early death...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28633494/silencing-effect-of-hominoid-highly-conserved-non-coding-sequences-on-embryonic-brain-development
#3
Morteza Mahmoudi Saber, Naruya Saitou
Superfamily Hominoidea, which consists of Hominidae (humans and great apes) and Hylobatidae (gibbons), is well-known for sharing human-like characteristics, however, the genomic origins of these shared unique phenotypes have mainly remained elusive. To decipher the underlying genomic basis of Hominoidea-restricted phenotypes, we identified and characterized Hominoidea-restricted highly conserved noncoding sequences (HCNSs) that are a class of potential regulatory elements which may be involved in evolution of lineage-specific phenotypes...
June 19, 2017: Genome Biology and Evolution
https://www.readbyqxmd.com/read/28628106/variants-in-the-fetal-genome-near-flt1-are-associated-with-risk-of-preeclampsia
#4
Ralph McGinnis, Valgerdur Steinthorsdottir, Nicholas O Williams, Gudmar Thorleifsson, Scott Shooter, Sigrun Hjartardottir, Suzannah Bumpstead, Lilja Stefansdottir, Lucy Hildyard, Jon K Sigurdsson, John P Kemp, Gabriela B Silva, Liv Cecilie V Thomsen, Tiina Jääskeläinen, Eero Kajantie, Sally Chappell, Noor Kalsheker, Ashley Moffett, Susan Hiby, Wai Kwong Lee, Sandosh Padmanabhan, Nigel A B Simpson, Vivien A Dolby, Eleonora Staines-Urias, Stephanie M Engel, Anita Haugan, Lill Trogstad, Gulnara Svyatova, Nodira Zakhidova, Dilbar Najmutdinova, Anna F Dominiczak, Håkon K Gjessing, Juan P Casas, Frank Dudbridge, James J Walker, Fiona Broughton Pipkin, Unnur Thorsteinsdottir, Reynir T Geirsson, Debbie A Lawlor, Ann-Charlotte Iversen, Per Magnus, Hannele Laivuori, Kari Stefansson, Linda Morgan
Preeclampsia, which affects approximately 5% of pregnancies, is a leading cause of maternal and perinatal death. The causes of preeclampsia remain unclear, but there is evidence for inherited susceptibility. Genome-wide association studies (GWAS) have not identified maternal sequence variants of genome-wide significance that replicate in independent data sets. We report the first GWAS of offspring from preeclamptic pregnancies and discovery of the first genome-wide significant susceptibility locus (rs4769613; P = 5...
June 19, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28624809/genome-wide-analysis-of-aberrantly-expressed-lncrnas-and-mirnas-with-associated-co-expression-and-cerna-networks-in-%C3%AE-thalassemia-and-hereditary-persistence-of-fetal-hemoglobin
#5
Ketong Lai, Siyuan Jia, Shanjuan Yu, Jianming Luo, Yunyan He
The implications of lncRNAs regarding fetal hemoglobin (HbF) induction in hemoglobin disorders remain poorly understood. In this study, microarray analysis was performed to profile lncRNAs, miRNAs and mRNAs in individuals with hereditary persistence of fetal hemoglobin (HPFH), β-thalassemia carriers with high HbF levels and healthy controls. The results show aberrant expression of 862 lncRNAs, 568 mRNAs and 63 miRNAs in the high-HbF group compared with the control group. Altered NR_001589, NR_120526, T315543, miR-486-3p, miR-19b-1-5p and miR-20a-3p expression was confirmed by quantitative reverse transcription-polymerase chain reaction, and Spearman correlation coefficients revealed significant positive correlations with HbF...
May 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28623972/placentation-in-the-colugos-cynocephalus-volans-and-galeopterus-variegatus-dermoptera-and-the-transition-from-labyrinthine-to-villous-placentation-in-primates
#6
A M Carter, A M Mess
INTRODUCTION: Phylogenetics and genomics place colugos as the sister group to primates. Therefore their placentation is of interest in an evolutionary perspective. Previous accounts are fragmentary, not readily accessible and sometimes contradictory. METHODS: We have examined archival material covering the early development of fetal membranes and placenta, the fate of the yolk sac and definitive placentation. RESULTS: Initially the trophoblast extended over a rather broad but shallow area, enclosing maternal blood spaces...
July 2017: Placenta
https://www.readbyqxmd.com/read/28613964/early-and-late-onset-preeclampsia-and-the-dna-methylation-of-circadian-clock-and-clock-controlled-genes-in-placental-and-newborn-tissues
#7
C B van den Berg, I Chaves, E M Herzog, S P Willemsen, G T J van der Horst, R P M Steegers-Theunissen
The placenta is important in providing a healthy environment for the fetus and plays a central role in the pathophysiology of preeclampsia (PE). Fetal and placental developments are influenced by epigenetic programming. There is some evidence that PE is controlled to an altered circadian homeostasis. In a nested case-control study embedded in the Rotterdam Periconceptional Cohort, we obtained placental tissue, umbilical cord leukocytes (UCL), and human umbilical venous endothelial cells of 13 early-onset PE, 16 late-onset PE and 83 controls comprising 36 uncomplicated and 47 complicated pregnancies, i...
June 14, 2017: Chronobiology International
https://www.readbyqxmd.com/read/28612095/maternal-fetal-vitamin-d-receptor-polymorphisms-significantly-associated-with-preterm-birth
#8
Talya Rosenfeld, Hagit Salem, Gheona Altarescu, Sorina Grisaru-Granovsky, Aharon Tevet, Ruth Birk
PURPOSE: Preterm birth (PTB) is a complex trait with strong genetic background, whose etiology is not fully understood. It was recently suggested that pregnancy duration is affected by fetal genetic variation even more than by the maternal genome. Vitamin D receptor (VDR) is involved in embryonic implantation and fertility. We studied the association between both maternal and neonatal vitamin D receptor (VDR) genetic variation and PTB. METHODS: Maternal and fetal (umbilical cord) DNA was isolated from Jewish Israeli idiopathic preterm newborns (24-36 weeks, n = 146) and control term newborns (>37 weeks, n = 229)...
June 13, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28604969/-genetic-study-of-a-fetus-with-9p-direct-duplication-deletion-syndrome
#9
Shanshan Shi, Shaobin Lin, Xiangying Lou, Weijing Li
OBJECTIVE: To use next generation sequencing (NGS) to identify unknown abnormality of chromosome 9 in a fetus and explore its mechanism. METHODS: A pregnant woman with abnormal fetal ultrasound finding underwent amniocentesis for G-banded chromosomal analysis. Karyotyping was also performed on peripheral blood samples derived from its parents. Fetal blood sample was obtained for NGS testing to identify abnormality unrecognized by karyotyping. RESULTS: Analysis of amniocytes has revealed a 46,XX,der(9)(?::p21 to qter) karyotype, while both parents had a normal karyotype...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28604823/the-chromosome-analysis-of-the-miscarriage-tissue-miscarried-embryo-fetal-crown-rump-length-crl-measurement-a-practical-use
#10
Silvia D'ippolito, Nicoletta Di Simone, Daniela Orteschi, Maria Grazia Pomponi, Maurizio Genuardi, Leuconoe Grazia Sisti, Roberta Castellani, Esther Diana Rossi, Giovanni Scambia, Marcella Zollino
OBJECTIVE: To investigate whether miscarried embryo/fetal crown rump length (CRL) measurement may yield a practical application for predicting a conclusive result at the cytogenetic analysis of miscarriage tissue. Our study might help in improving the cytogenetic method, the results of which may be affected by maternal cell contamination (MCC). In particular, we aimed at establishing whether the miscarried embryo/fetal CRL measurement shows accuracy in predicting the possibility of MCC and the scan cut-off value useful to this purpose and, as a result, suggest a multi-step procedure for the genetic ascertainment...
2017: PloS One
https://www.readbyqxmd.com/read/28600057/molecular-genetic-characterization-of-a-prenatally-detected-de-novo-interstitial-deletion-of-chromosome-20p-20p12-p13-encompassing-jag1-and-a-literature-review-of-prenatal-diagnosis-of-alagille-syndrome
#11
Chih-Ping Chen, Chang-Sheng Yin, Liang-Kai Wang, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Peih-Shan Wu, Wen-Lin Chen, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular genetic characterization of a de novo interstitial deletion of chromosome 20p (20p12-p13) and a literature review of prenatal diagnosis of Alagille syndrome (ALGS). CASE REPORT: A 33-year-old woman underwent amniocentesis at 17 weeks of gestation because of an abnormal result of combined first-trimester screening. Her husband was 35 years old, and there was no family history of congenital malformations. Amniocentesis revealed a karyotype of 46,XY,del(20)(p12p13), and array comparative genomic hybridization analysis on uncultured amniocytes revealed a 3...
June 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28600056/molecular-genetic-characterization-of-a-prenatally-detected-1-484-mb-xq13-3-q21-1-duplication-encompassing-atrx-and-a-literature-review-of-syndromic-intellectual-disability-and-congenital-abnormalities-in-males-with-a-duplication-at-xq13-3-q21-1
#12
Chih-Ping Chen, Hoi-Kin Yip, Liang-Kai Wang, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Peih-Shan Wu, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis of dup(X)(q13.3q21.1) in a male fetus and molecular genetic analysis in three generations and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1. CASE REPORT: A 35-year-old, primigravid woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. The woman and her mother were phenotypically normal, and there was no intellectual disability in the maternal family...
June 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28597690/dna-methylation-and-copy-number-variation-analyses-of-human-embryonic-stem-cell-derived-neuroprogenitors-after-low-dose-decabromodiphenyl-ether-and-or-bisphenol-a-exposure
#13
L Du, W Sun, X M Li, X Y Li, W Liu, D Chen
The polybrominated diphenyl ether flame retardants decabromodiphenyl ether (BDE-209) and bisphenol A (BPA) are environmental contaminants that can cross the placenta and exert toxicity in the developing fetal nervous system. Copy number variants (CNVs) play a role in a number of genetic disorders and may be implicated in BDE-209/BPA teratogenicity. In this study, we found that BDE-209 and/or BPA exposure decreased neural differentiation efficiency of human embryonic stem cells (hESCs), although there was a >90% induction of neuronal progenitor cells (NPCs) from exposed hESCs...
January 1, 2017: Human & Experimental Toxicology
https://www.readbyqxmd.com/read/28593919/effects-of-interleukin-1-receptor-antagonist-il-1ra-gene-86-bp-vntr-polymorphism-on-recurrent-pregnancy-loss-a-case-control-study
#14
Yasamin Sayed Hajizadeh, Elina Emami, Marina Nottagh, Zahra Amini, Nazila Fathi Maroufi, Saba Haj Azimian, Alireza Isazadeh
Objective Recurrent pregnancy loss (RPL) is a heterogeneous disease which is defined as two or more consecutive fetal losses during early pregnancy. Interleukin-1 receptor antagonist (IL-1Ra) is a anti-inflammatory cytokine, which inhibits IL-1 activity by binding to its receptors. The aim of this study was to investigate the association between RPL and IL-1Ra intron 2 polymorphism (86 bp VNTR) in Iranian women. Materials and methods In this case control study, genetic polymorphism was studied in 140 RPL patients and 140 healthy women as controls...
May 26, 2017: Hormone Molecular Biology and Clinical Investigation
https://www.readbyqxmd.com/read/28591488/salvage-of-fetal-karyotype-information-from-snp-array-data-obtained-from-products-of-conception-with-maternal-cell-contamination
#15
Karin Sasaki, Kosei Abe, Takahide Mori, Kazunori Hashimoto, Kazuhiko Nakabayashi
OBJECTIVE: Maternal cell contamination (MCC) is known to increase the risk of misdiagnosis in prenatal diagnosis as well as in diagnostic tests for the products of conception (POC) from miscarriages. We aimed to develop a data correction method to salvage fetal karyotype information from SNP array data for POC with MCC when parental genotype data are available. METHODS: We obtained SNP array data from mixed genomic DNAs of a mother-child pair and used the dataset to assess the accuracy of data correction...
June 7, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28585734/immunological-function-of-vitamin-d-during-human-pregnancy
#16
Jin-Lu Ji, Kahinho P Muyayalo, Yong-Hong Zhang, Xiao-Hui Hu, Ai-Hua Liao
The well-established classic role of vitamin D is implicated in the regulation of the balance between calcium and phosphorus. Furthermore, vitamin D is also involved in many non-classic physiological processes, mainly including the regulation of cell proliferation, differentiation, apoptosis and immune function, participation in the inflammatory response and maintenance of genome stability function. During pregnancy, vitamin D receptor and its metabolic enzymes are expressed at the placenta and decidua, indicating the potential role in the mechanism of immunomodulation at the maternal-fetal interface...
June 6, 2017: American Journal of Reproductive Immunology: AJRI
https://www.readbyqxmd.com/read/28575308/spatial-temporal-transcriptional-dynamics-of-long-non-coding-rnas-in-human-brain
#17
Xiao-Qin Zhang, Ze-Lin Wang, Ming-Wai Poon, Jian-Hua Yang
The functional architecture of human brain is greatly determined by the temporal and spatial regulation of the transcription process. However, the spatial and temporal transcriptional landscape of long non-coding RNAs (lncRNAs) during human brain development remains poorly understood. Here, we report the genome-wide lncRNA transcriptional analysis in an extensive series of 1340 post-mortem human brain specimens collected from 16 regions spanning the period from early embryo development to late adulthood. We discovered that lncRNA transcriptome dramatically changed during fetal development, while transited to a surprisingly relatively stable state after birth till the late adulthood...
May 31, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28561420/cab4b-the-first-human-platelet-antigen-carried-by-gpix-discovered-in-a-context-of-severe-neonatal-thrombocytopenia
#18
V Jallu, T Beranger, F Bianchi, C Casale, C Chenet, N Ferre, S Philippe, J Quesne, C Martageix, R Petermann
BACKGROUND: After 3 miscarriages, a 39-year-old woman gave birth at 1 year interval to 2 severely thrombocytopenic neonates (4 and 33 G/L) with intracranial haemorrhages. Transfusion of platelets concentrates corrected thrombocytopenias. The outcome was favourable for the 1(st) child but the second one died 10 days after caesarean delivery (31 WG + 6 days). METHODS: Serological studies were performed using MAIPA and flow cytometry techniques. Human platelet antigens (HPA) genotyping was done by using the BioArray HPA BeadChip and PCR-SSP techniques...
May 31, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28558807/genome-wide-dna-methylation-at-birth-in-relation-to-in-utero-arsenic-exposure-and-the-associated-health-in-later-life
#19
Akhilesh Kaushal, Hongmei Zhang, Wilfried J J Karmaus, Todd M Everson, Carmen J Marsit, Margaret R Karagas, Shih-Fen Tsai, Hui-Ju Wen, Shu-Li Wang
BACKGROUND: In utero arsenic exposure may alter fetal developmental programming by altering DNA methylation, which may result in a higher risk of disease in later life. We evaluated the association between in utero arsenic exposure and DNA methylation (DNAm) in cord blood and its influence in later life. METHODS: Genome-wide DNA methylation in cord blood from 64 subjects in the Taiwanese maternal infant and birth cohort was analyzed. Robust regressions were applied to assess the association of DNA methylation with in utero arsenic exposure...
May 30, 2017: Environmental Health: a Global Access Science Source
https://www.readbyqxmd.com/read/28552226/preparation-characterization-and-banking-of-clinical-grade-cells-for-neural-transplantation-scale-up-fingerprinting-and-genomic-stability-of-stem-cell-lines
#20
Ammar Natalwala, Tilo Kunath
Parkinson's disease is a complex and progressive neurodegenerative condition that is characterized by the severe loss of midbrain dopaminergic (mDA) neurons, which innervate the striatum. Cell transplantation therapies to rebuild this dopaminergic network have been attempted for over 30 years. The most promising outcomes were observed when human fetal mesencephalic tissue was used as the source of cells for transplantation. However, reliance on terminations for a Parkinson's therapy presents significant logistical and ethical hurdles...
2017: Progress in Brain Research
keyword
keyword
73207
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"