Cargando…

Hypomethylation of a centromeric block of ICR1 is sufficient to cause Silver-Russell syndrome

Silver-Russell syndrome (SRS) is a representative imprinting disorder. A major cause is the loss of methylation (LOM) of imprinting control region 1 (ICR1) within the IGF2/H19 domain. ICR1 is a gametic differentially methylated region (DMR) consisting of two repeat blocks, with each block including...

Descripción completa

Detalles Bibliográficos
Autores principales:	Higashimoto, Ken, Watanabe, Hijiri, Tanoue, Yuka, Tonoki, Hidefumi, Tokutomi, Tomoharu, Hara, Satoshi, Yatsuki, Hitomi, Soejima, Hidenobu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2021
Materias:	Epigenetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8142445/ https://www.ncbi.nlm.nih.gov/pubmed/32447322 http://dx.doi.org/10.1136/jmedgenet-2020-106907

Ejemplares similares

Aberrant hypomethylation at imprinted differentially methylated regions is involved in biparental placental mesenchymal dysplasia
por: Aoki, Saori, et al.
Publicado: (2022)

A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype
por: Gaudet, Marie Véronique, et al.
Publicado: (2023)

Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology
por: Inoue, Takanobu, et al.
Publicado: (2019)

Growing oocyte-specific transcription-dependent de novo DNA methylation at the imprinted Zrsr1-DMR
por: Joh, Keiichiro, et al.
Publicado: (2018)

Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome
por: Yamazawa, Kazuki, et al.
Publicado: (2021)

Decreased expression of cell proliferation-related genes in clonally derived skin fibroblasts from children with Silver-Russell syndrome is independent of the degree of 11p15 ICR1 hypomethylation
por: Heckmann, Doreen, et al.
Publicado: (2015)

Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith–Wiedemann syndrome with epimutations
por: Maeda, Toshiyuki, et al.
Publicado: (2014)

Placental Mesenchymal Dysplasia and Beckwith–Wiedemann Syndrome
por: Soejima, Hidenobu, et al.
Publicado: (2022)

Five nucleotides found in RCTG motifs are essential for post-fertilization methylation imprinting of the H19 ICR in YAC transgenic mice
por: Matsuzaki, Hitomi, et al.
Publicado: (2023)

Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction
por: De Crescenzo, Agostina, et al.
Publicado: (2013)

Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children
por: Muurinen, Mari, et al.
Publicado: (2017)

Permissive Transcriptional Activity at the Centromere through Pockets of DNA Hypomethylation
por: Wong, Nicholas C, et al.
Publicado: (2006)

Maternal Microdeletion at the H19/Igf2 ICR in Mice Increases Offspring Susceptibility to In Utero Environmental Perturbation
por: Pal, Anandita, et al.
Publicado: (2020)

Comprehensive methylation analysis of imprinting-associated differentially methylated regions in colorectal cancer
por: Hidaka, Hidenori, et al.
Publicado: (2018)

DNA methylation analysis of multiple imprinted DMRs in Sotos syndrome reveals IGF2‐DMR0 as a DNA methylation‐dependent, P0 promoter‐specific enhancer
por: Watanabe, Hidetaka, et al.
Publicado: (2019)

Dynamics of a novel centromeric histone variant CenH3 reveals the evolutionary ancestral timing of centromere biogenesis
por: Dubin, Manu, et al.
Publicado: (2010)

No Evidence for Mutations of CTCFL/BORIS in Silver-Russell Syndrome Patients with IGF2/H19 Imprinting Control Region 1 Hypomethylation
por: Bernier-Latmani, Jeremiah, et al.
Publicado: (2009)

Silver–Russell Syndrome Due to Paternal H19/IGF2 Hypomethylation in a Twin Girl Born After In Vitro Fertilization
por: Cocchi, Guido, et al.
Publicado: (2013)

Imprinting control regions (ICRs) are marked by mono-allelic bivalent chromatin when transcriptionally inactive
por: Maupetit-Méhouas, Stéphanie, et al.
Publicado: (2016)

Reconstitution of hemisomes on budding yeast centromeric DNA
por: Furuyama, Takehito, et al.
Publicado: (2013)

Silver: Russell Syndrome with Cryptorchidism
por: Reddy, H Babul, et al.
Publicado: (2013)

The Association of LINE-1 Hypomethylation with Age and Centromere Positive Micronuclei in Human Lymphocytes
por: Cho, Yoon Hee, et al.
Publicado: (2015)

IGF2/H19 hypomethylation is tissue, cell, and CpG site dependent and not correlated with body asymmetry in adolescents with Silver-Russell syndrome
por: Kannenberg, Kai, et al.
Publicado: (2012)

DNA deletion as a mechanism for developmentally programmed centromere loss
por: Lhuillier-Akakpo, Maoussi, et al.
Publicado: (2016)

Nanoscale dynamics of centromere nucleosomes and the critical roles of CENP-A
por: Stumme-Diers, Micah P, et al.
Publicado: (2018)

Clinical spectrum of Silver - Russell syndrome
por: Varma, Sapna N.K., et al.
Publicado: (2013)

WDHD1 modulates the post-transcriptional step of the centromeric silencing pathway
por: Hsieh, Chia-Ling, et al.
Publicado: (2011)

Oligomerization of Drosophila Nucleoplasmin-Like Protein is required for its centromere localization
por: Anselm, Eduard, et al.
Publicado: (2018)

ONECUT2 upregulation is associated with CpG hypomethylation at promoter‐proximal DNA in gastric cancer and triggers ACSL5
por: Seo, Eun‐Hye, et al.
Publicado: (2020)

Comprehensive analyses of imprinted differentially methylated regions reveal epigenetic and genetic characteristics in hepatoblastoma
por: Rumbajan, Janette Mareska, et al.
Publicado: (2013)

Russell
por: Ayer, A. J. (Alfred Jules), 1910-1989
Publicado: (1972)

Russel
por: Ayer, A. J. (Alfred Jules), 1910-1989
Publicado: (1973)

Russell
por: Clark, Ronald (Ronald William), 1916-1987
Publicado: (1985)

Russell
por: Kilmister, C. W. (Clive William)
Publicado: (1992)

A transcriptomic analysis of human centromeric and pericentric sequences in normal and tumor cells
por: Eymery, Angéline, et al.
Publicado: (2009)

Non-coding murine centromeric transcripts associate with and potentiate Aurora B kinase
por: Ferri, Federica, et al.
Publicado: (2009)

Permissive zones for the centromere-binding protein ParB on the Caulobacter crescentus chromosome
por: Tran, Ngat T, et al.
Publicado: (2018)

The role of CTCF in the organization of the centromeric 11p15 imprinted domain interactome
por: Naveh, Natali S Sobel, et al.
Publicado: (2021)

Depositing centromere repeats induces heritable intragenic heterochromatin establishment and spreading in Arabidopsis
por: Liu, Zhang-Wei, et al.
Publicado: (2023)

Silver-Russell Syndrome: A Case Report
por: Kumar, Sunil, et al.
Publicado: (2008)

Cannot write session to /tmp/vufind_sessions/sess_acgijtg2io5dt4k5324eg9enja