Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting.

Autor: Marta Sanchez-Delgado, Alejandro Martin-Trujillo, Chiharu Tayama, Enrique Vidal, Manel Esteller, Isabel Iglesias-Platas, Nandita Deo, Olivia Barney, Ken Maclean, Kenichiro Hata, Kazuhiko Nakabayashi, Rosemary Fisher, David Monk

Publikováno v: PLoS Genetics, Vol 11, Iss 11, p e1005644 (2015)

Familial recurrent hydatidiform mole (RHM) is a maternal-effect autosomal recessive disorder usually associated with mutations of the NLRP7 gene. It is characterized by HM with excessive trophoblastic proliferation, which mimics the appearance of and

Externí odkaz: https://doaj.org/article/a46682f4514d4245b4fde6c861e0373a

Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome.

Autor: Tomoko Fuke, Seiji Mizuno, Toshiro Nagai, Tomonobu Hasegawa, Reiko Horikawa, Yoko Miyoshi, Koji Muroya, Tatsuro Kondoh, Chikahiko Numakura, Seiji Sato, Kazuhiko Nakabayashi, Chiharu Tayama, Kenichiro Hata, Shinichiro Sano, Keiko Matsubara, Masayo Kagami, Kazuki Yamazawa, Tsutomu Ogata

Publikováno v: PLoS ONE, Vol 8, Iss 3, p e60105 (2013)

BackgroundRecent studies have revealed relative frequency and characteristic phenotype of two major causative factors for Silver-Russell syndrome (SRS), i.e. epimutation of the H19-differentially methylated region (DMR) and uniparental maternal disom

Externí odkaz: https://doaj.org/article/8288174ccaaa4443a29a1247cb62d067

Placenta-specific epimutation at H19-DMR among common pregnancy complications: its frequency and effect on the expression patterns of H19 and IGF2

Autor: Hisanori Minakami, Takahiro Yamada, Kiyoko Kato, Kazuhiko Nakabayashi, Kenichiro Hata, Rina Akaishi, Kentaro Matsuoka, Norio Wake, Junko Tomikawa, Hiromi Kamura, Chiharu Tayama, Yuko Yamaguchi

Publikováno v: Clinical Epigenetics

Background H19 and IGF2 genes are imprinted and involved in regulating fetal and placental growth. The H19 differentially methylated region (DMR) is paternally methylated and maternally unmethylated and regulates the imprinted expression of H19 and I

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2031188cf808af17fbad997ccc145cbd
https://doi.org/10.1186/s13148-019-0712-3

Human Oocyte-Derived Methylation Differences Persist in the Placenta Revealing Widespread Transient Imprinting

Autor: David Monk, Marta Sanchez-Delgado, Alex Martin-Trujillo, Maria Eugenia Poo-Llanillo, Kazuhiko Nakabayashi, Tomas Marques-Bonet, Chiharu Tayama, Jose V. Medrano, Ronald E. Bontrop, Franck Court, Carlos Simón, Isabel Iglesias-Platas, Ana Monteagudo-Sánchez, Enrique Vidal, Ivanela Kondova

Publikováno v: PLoS Genetics, Vol 12, Iss 11, p e1006427 (2016)
PLOS GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Recercat. Dipósit de la Recerca de Catalunya
PLoS Genetics
Dipòsit Digital de la UB
Universidad de Barcelona
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Digital.CSIC. Repositorio Institucional del CSIC
PLoS Genetics, 12(11). Public Library of Science
r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe

Thousands of regions in gametes have opposing methylation profiles that are largely resolved during the post-fertilization epigenetic reprogramming. However some specific sequences associated with imprinted loci survive this demethylation process. He

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8511361c8aea07fd80420283a057d2d5
http://europepmc.org/articles/PMC5106035?pdf=render

Imprinting control regions (ICRs) are marked by mono-allelic bivalent chromatin when transcriptionally inactive

Autor: Stéphanie, Maupetit-Méhouas, Bertille, Montibus, David, Nury, Chiharu, Tayama, Michel, Wassef, Satya K, Kota, Anne, Fogli, Fabiana, Cerqueira Campos, Kenichiro, Hata, Robert, Feil, Raphael, Margueron, Kazuhiko, Nakabayashi, Franck, Court, Philippe, Arnaud

Publikováno v: Nucleic Acids Research

Parental allele-specific expression of imprinted genes is mediated by imprinting control regions (ICRs) that are constitutively marked by DNA methylation imprints on the maternal or paternal allele. Mono-allelic DNA methylation is strictly required f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6791de935321f8162fe2cab6ae6f6dba
https://pubmed.ncbi.nlm.nih.gov/26400168