FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2200639384> ?p ?o ?g. }

• W2200639384 abstract "s / Placenta 36 (2015) A1eA14 A2 JPA2015-01. MOLECULAR GENETIC INVESTIGATION OF PLACENTAL MESENCHYMAL DYSPLASIA Saori Aoki , Ken Higashimoto , Hidenori Hidaka , Hidetaka Watanabe , Yasufumi Ohtsuka , Hiroyuki Mishima , Koh-ichiro Yoshiura , Hitomi Yatsuki , Kenichi Nishioka , Kei-ichiro Joh , Takashi Ohba , Hidetaka Katabuchi , Hidenobu Soejima . Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University, Japan; Department of Pediatrics, Faculty of Medicine, Taiji School of Biomedical Sciences, Nagasaki, Japan; Department of Obstetrics and Gynecology, Faculty of Life Sciences, Kumamoto University, Japan Placental mesenchymal dysplasia (PMD), a morphological anomaly of the placenta characterized by placentomegaly and multicystic changes, is often associated with fetal growth restriction and death. The incidence of PMD is 0.02% of all pregnancies. Although the etiology of PMD is unknown, about 20% of fetuses with PMD also exhibit clinical features of BeckwitheWiedemann syndrome, a representative imprinting disorder, suggesting the involvement of imprinting disruption. A review of the published literature on PMD in Japan was done to find all articles from 2000 to 2014, and identified all PMD cases that had been confirmed by placental histopathology. We requested additional detailed clinical information and specimens of placental tissue from the authors. To identify the etiology of PMD, we performed genetic and epigenetic analyses on frozen placental specimens. First, we employed DNA microarrays for genetic analysis. We found 11 cases of androgenetic/biparental mosaicism in macroscopic lesions, and four such cases in normal-appearing regions. We detected 5.9±9.0 copy number variations (CNVs) with gain of copy number (average size, 3.5±10.2 Mb) and 3.5±4.3 CNVs with loss of copy number (average size, 7.5±23.7 Mb) by CytoScan HD (Affimetrix). All of these CNVs were found in the Database of Genomic Variants. For epigenetic analysis, we used bisulfite-pyrosequencing to quantitate the DNA methylation status of 57 imprinting-associated differentially methylated regions (DMRs). Analysis of PMDs with biparental genotypes revealed that several DMRs exhibited aberrant methylation relative to normal placentas. These results suggested that abnormal copy number is not associated with PMD pathogenesis, whereas androgenetic/biparental mosaicism or aberrant methylation of imprinted DMRs might be involved. JPA2015-02. A SURVIVED INFANT WITH PLACENTAL MESENCHYMAL DYSPLASIA Rie Oyama, Tanaka Shino, Sasaki Yuri, Tomonobu Kanasugi, Akihiko Kikuchi, Toru Sugiyama. Iwate Medical University Department Obstetrics and Gynecology, Japan Introduction: Mesenchyma-related dysplastic placenta (PMD) has a many type cystic region in placenta, andt then it need the differentiation with a part hydatidiformmole. The frequency is a rare disease estimated to be one case by the 4000-5000 pregnancy, and an onset drop of gene IGF2 overexpression and CDKN1C to imprint by the inpriting abnormality of the 11th chromosomal region is supposed by what the complications of the infant such as Beckwith-Wiedemann syndromes (BWS). In addition, the participation of the VEGF-D gene on the X chromosome relationship with PMD, which is the high-risk pregnancy to be complicated with premature birth and growth retardation and still birth. Case: Patient had cesarean section at 32weeks. An infant was female, 1510g, with clef lips and cyst in liver. Volume of placenta was 2250g, included multiple cyst. pathological diagnosis was PMD Conclusions: It was important that the PMD is similarly a hydatidiform mole, and it was right diagnose by ultrasonography or MRI to prevent from unnecessary termination. JPA2015-03. SKEWED X CHROMOSOME INACTIVATION IN HUMAN PLACENTAL TISSUE Hirotaka Hamada , Hiroaki Okae , Takahiro Arima , Nobuo Yaegashi . Department of Obstetrics and Gynecology, Tohoku University Graduate School of Medicine, Japan; Department of Informative Genetics, Tohoku University Graduate School of Medicine, Japan Objective: Female mammals inactivate one of the two X chromosomes for a dosage compensation issue, which is known as X chromosome inactivation (XCI). The status of XCI varies by mammalian species or cell types. For example, in marsupials, the paternal X chromosome is inactive both in embryonic and extra-embryonic tissues, whereas in mice, XCI is random in embryonic tissues and imprinted in extra-embryonic tissues. It remains controversial whether imprinted XCI exists or not in human placental tissue in part because previous studies had analyzed a limited number of X-linked genes using resources containing various types of cells. Material and methods: To assess the XCI status in human placental tissue, we performed a chromosome-wide allele-specific expression analysis using cytotrophoblast cells (CTs) immunomagnetically purified from 1st trimester placentas. We extracted RNA and genomic DNA from CTs and maternal peripheral blood cells, and Exome, Bisulfiteand RNAsequencing were performed. The parental origin was determined using single nucleotides polymorphisms (SNPs), and the allelic expression ratio was calculated for each gene. Results: 18 females’ and 3males’ placentawere analyzed. The purity of CTs averaged 95% (97%-90% in all 21 samples). Among female samples, the average allelic expression ratio from the paternal allele was 48.7±9.5% for autosomes and 39.5±18.7% for the X-chromosome (p<0.0001). The allelic expression ratio of the X-chromosome was highly variable among samples (from 12.8% to 73.2%). We also identified an imprinted gene which is preferentially expressed from the paternal X chromosome. The variation of the XCI status was approximated by a binomial distribution model of 3:2 paternal X inactivation in 5.8±3.2 pooling cells. Conclusions: Our results suggest that XCI in human placental tissue is not randomnor completely imprinted, but is paternally relaxed imprinted. The mechanisms of XCI in placental tissues are preserved, and also diversified among mammalian species. JPA2015-04. THREE POINT MUTATIONS OF PROMOTER I.1 OF MARMOSET AROMATASE GIVES RISE OF HUMAN TYPE EXONI.1 Tatsuya Kobayashi, Hirokazu Usui, Makio Shozu. Reproductive Medicine, Post-graduate School of Medicine, Chiba University, Japan Placental expressions of aromatase in human is regulated by placenta specific promoter, namely promoter I.1. The promoter I.1 and associated exon I.1 sequence is retrotransposone origin, which is introduced into genomic sequence of marmoset CYP19A1 35 million years ago and evolves among hominoidea thereafter. Objective: The objective of this study is to characterize functional significance of evolutional changes in promoter I.1 after New-world monkey common marmoset monkey (callithrix jacchus) diverged. Methods: Common Marmoset term placentae were obtained from Chiba city zoo and Japan SLC. Transcriptional start sites of CYP19A1 were examined using 5’-RACE. A genomic sequence containing marmoset CYP19A1 sequence were cloned into a luciferase vector and transfected into BeWo cells to analyze promoter activity and splicing acceptor site. Result: No of 5’RACE clones were 37, 3, and 1 for Exon I.1, PII (gonadal promoter) and 1f (brain promoter), suggesting that the major promoter used for placental aromatase is promoter I.1 as in human. The splicing" @default.
• W2200639384 created "2016-06-24" @default.
• W2200639384 creator A5003908245 @default.
• W2200639384 creator A5011939127 @default.
• W2200639384 creator A5016789715 @default.
• W2200639384 creator A5018258244 @default.
• W2200639384 creator A5050448929 @default.
• W2200639384 creator A5053209113 @default.
• W2200639384 creator A5053824352 @default.
• W2200639384 creator A5058784897 @default.
• W2200639384 creator A5060942392 @default.
• W2200639384 creator A5065837353 @default.
• W2200639384 creator A5084522717 @default.
• W2200639384 creator A5090361588 @default.
• W2200639384 creator A5090769439 @default.
• W2200639384 date "2015-10-01" @default.
• W2200639384 modified "2023-09-23" @default.
• W2200639384 title "Molecular genetic investigation of placental mesenchymal dysplasia" @default.
• W2200639384 doi "https://doi.org/10.1016/j.placenta.2015.07.135" @default.
• W2200639384 hasPublicationYear "2015" @default.
• W2200639384 type Work @default.
• W2200639384 sameAs 2200639384 @default.
• W2200639384 citedByCount "0" @default.
• W2200639384 crossrefType "journal-article" @default.
• W2200639384 hasAuthorship W2200639384A5003908245 @default.
• W2200639384 hasAuthorship W2200639384A5011939127 @default.
• W2200639384 hasAuthorship W2200639384A5016789715 @default.
• W2200639384 hasAuthorship W2200639384A5018258244 @default.
• W2200639384 hasAuthorship W2200639384A5050448929 @default.
• W2200639384 hasAuthorship W2200639384A5053209113 @default.
• W2200639384 hasAuthorship W2200639384A5053824352 @default.
• W2200639384 hasAuthorship W2200639384A5058784897 @default.
• W2200639384 hasAuthorship W2200639384A5060942392 @default.
• W2200639384 hasAuthorship W2200639384A5065837353 @default.
• W2200639384 hasAuthorship W2200639384A5084522717 @default.
• W2200639384 hasAuthorship W2200639384A5090361588 @default.
• W2200639384 hasAuthorship W2200639384A5090769439 @default.
• W2200639384 hasConcept C198826908 @default.
• W2200639384 hasConcept C54355233 @default.
• W2200639384 hasConcept C86803240 @default.
• W2200639384 hasConceptScore W2200639384C198826908 @default.
• W2200639384 hasConceptScore W2200639384C54355233 @default.
• W2200639384 hasConceptScore W2200639384C86803240 @default.
• W2200639384 hasLocation W22006393841 @default.
• W2200639384 hasOpenAccess W2200639384 @default.
• W2200639384 hasPrimaryLocation W22006393841 @default.
• W2200639384 hasRelatedWork W1971692161 @default.
• W2200639384 hasRelatedWork W1976309267 @default.
• W2200639384 hasRelatedWork W1976571686 @default.
• W2200639384 hasRelatedWork W1996207247 @default.
• W2200639384 hasRelatedWork W1998416184 @default.
• W2200639384 hasRelatedWork W1999606018 @default.
• W2200639384 hasRelatedWork W2058334774 @default.
• W2200639384 hasRelatedWork W2066650781 @default.
• W2200639384 hasRelatedWork W2078170694 @default.
• W2200639384 hasRelatedWork W2079253705 @default.
• W2200639384 hasRelatedWork W2099020578 @default.
• W2200639384 hasRelatedWork W2101169081 @default.
• W2200639384 hasRelatedWork W2102400711 @default.
• W2200639384 hasRelatedWork W2142794300 @default.
• W2200639384 hasRelatedWork W2165172234 @default.
• W2200639384 hasRelatedWork W2168777959 @default.
• W2200639384 hasRelatedWork W2308125546 @default.
• W2200639384 hasRelatedWork W2940486276 @default.
• W2200639384 hasRelatedWork W2954839288 @default.
• W2200639384 hasRelatedWork W3161771355 @default.
• W2200639384 isParatext "false" @default.
• W2200639384 isRetracted "false" @default.
• W2200639384 magId "2200639384" @default.
• W2200639384 workType "article" @default.