Cargando…

No Evidence for Mutations of CTCFL/BORIS in Silver-Russell Syndrome Patients with IGF2/H19 Imprinting Control Region 1 Hypomethylation

BACKGROUND: Silver-Russell syndrome (SRS) is a genetically and clinically heterogeneous disease. Although no protein coding gene defects have been reported in SRS patients, approximately 50% of SRS patients carry epimutations (hypomethylation) at the IGF2/H19 imprinting control region 1 (ICR1). Prop...

Descripción completa

Detalles Bibliográficos
Autores principales:	Bernier-Latmani, Jeremiah, Baumer, Alessandra, Shaw, Phillip
Formato:	Texto
Lenguaje:	English
Publicado:	Public Library of Science 2009
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2721151/ https://www.ncbi.nlm.nih.gov/pubmed/19675668 http://dx.doi.org/10.1371/journal.pone.0006631

Ejemplares similares

The Evolution of Epigenetic Regulators CTCF and BORIS/CTCFL in Amniotes
por: Hore, Timothy A., et al.
Publicado: (2008)

Widespread Expression of BORIS/CTCFL in Normal and Cancer Cells
por: Jones, Tania A., et al.
Publicado: (2011)

Expression of the Epigenetic factor BORIS (CTCFL) in the Human Genome
por: de Necochea-Campion, Rosalia, et al.
Publicado: (2011)

BORIS/CTCFL is an RNA-binding protein that associates with polysomes
por: Ogunkolade, Babatunji W, et al.
Publicado: (2013)

Hypomethylation of the CTCFL/BORIS promoter and aberrant expression during endometrial cancer progression suggests a role as an Epi-driver gene
por: Hoivik, Erling A., et al.
Publicado: (2014)

The epigenetic factor BORIS (CTCFL) controls the androgen receptor regulatory network in ovarian cancer
por: Salgado-Albarrán, Marisol, et al.
Publicado: (2019)

BORIS (CTCFL) Is Not Expressed in Most Human Breast Cell Lines and High Grade Breast Carcinomas
por: Hines, William C., et al.
Publicado: (2010)

CTCFL (BORIS) mRNA Expression in a Peripheral Giant Cell Granuloma of the Oral Cavity
por: Zambrano-Galván, Graciela, et al.
Publicado: (2014)

A Therapeutic Vaccine Targeting Rat BORIS (CTCFL) for the Treatment of Rat Breast Cancer Tumors
por: Loukinov, Dmitri, et al.
Publicado: (2023)

The Testis-Specific Factor CTCFL Cooperates with the Protein Methyltransferase PRMT7 in H19 Imprinting Control Region Methylation
por: Jelinic, Petar, et al.
Publicado: (2006)

BORIS/CTCFL-mediated transcriptional regulation of the hTERT telomerase gene in testicular and ovarian tumor cells
por: Renaud, Stéphanie, et al.
Publicado: (2011)

BORIS/CTCFL promotes a switch from a proliferative towards an invasive phenotype in melanoma cells
por: Janssen, Sanne Marlijn, et al.
Publicado: (2020)

Molecular Lesions of Insulator CTCF and Its Paralogue CTCFL (BORIS) in Cancer: An Analysis from Published Genomic Studies
por: Voutsadakis, Ioannis A.
Publicado: (2018)

High Expression of hTERT and Stemness Genes in BORIS/CTCFL Positive Cells Isolated from Embryonic Cancer Cells
por: Alberti, Loredana, et al.
Publicado: (2014)

Different Effects of BORIS/CTCFL on Stemness Gene Expression, Sphere Formation and Cell Survival in Epithelial Cancer Stem Cells
por: Alberti, Loredana, et al.
Publicado: (2015)

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)

Clinical characteristics and imprinting analysis of Chinese Silver Russell Syndrome
por: Wu, Di, et al.
Publicado: (2015)

Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith–Wiedemann syndrome and Silver–Russell syndrome
por: Nativio, Raffaella, et al.
Publicado: (2011)

Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver–Russell Syndrome Spectrum
por: Passaretti, Francesco, et al.
Publicado: (2022)

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)

Hypomethylation of a centromeric block of ICR1 is sufficient to cause Silver-Russell syndrome
por: Higashimoto, Ken, et al.
Publicado: (2021)

The downregulation of putative anticancer target BORIS/CTCFL in an addicted myeloid cancer cell line modulates the expression of multiple protein coding and ncRNA genes
por: Teplyakov, Evgeny, et al.
Publicado: (2017)

De Novo Mutation of Paternal IGF2 Gene Causing Silver–Russell Syndrome in a Sporadic Patient
por: Liu, Deguo, et al.
Publicado: (2017)

Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum
por: Fuke, Tomoko, et al.
Publicado: (2020)

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)

Association of mutation and expression of the brother of the regulator of imprinted sites (BORIS) gene with breast cancer progression
por: Akhtar, Mohammad Salman, et al.
Publicado: (2023)

The cancer-associated CTCFL/BORIS protein targets multiple classes of genomic repeats, with a distinct binding and functional preference for humanoid-specific SVA transposable elements
por: Pugacheva, Elena M., et al.
Publicado: (2016)

IGF-I and IGF Binding Protein-3 Generation Tests and Response to Growth Hormone in Children with Silver-Russell Syndrome
por: Beserra, Izabel C. R., et al.
Publicado: (2010)

Brother of Regulator of Imprinted Sites (BORIS) suppresses apoptosis in colorectal cancer
por: Zhang, Yanmei, et al.
Publicado: (2017)

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

Is ZFP57 binding to H19/IGF2:IG-DMR affected in Silver-Russell syndrome?
por: Sparago, Angela, et al.
Publicado: (2018)

Rare De Novo IGF2 Variant on the Paternal Allele in a Patient With Silver–Russell Syndrome
por: Xia, Chun-Ling, et al.
Publicado: (2019)

Oct4/Sox2 Binding Sites Contribute to Maintaining Hypomethylation of the Maternal Igf2/H19 Imprinting Control Region
por: Zimmerman, David L., et al.
Publicado: (2013)

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

Prenatal correction of IGF2 to rescue the growth phenotypes in mouse models of Beckwith-Wiedemann and Silver-Russell syndromes
por: Liao, Ji, et al.
Publicado: (2021)

Boris Godunov
por: Mussorgsky, Modest Petrovich, 1839-1881
Publicado: (1994)

Boris Godunov
por: Pushkin, Aleksandr Sergeevich, 1799-1837

Boris Kustodiev /
por: Kustodiev, Boris Mikhailovich, 1878-1927
Publicado: (1984)

Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver–Russell Syndrome-compatible phenotype
por: Kagami, Masayo, et al.
Publicado: (2015)

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)

Cannot write session to /tmp/vufind_sessions/sess_gop4p9oeke8vdobobinlcjcpov