Cargando…

DNA methylation profiles in individuals with rare, atypical 7q11.23 CNVs correlate with GTF2I and GTF2IRD1 copy number

Williams-Beuren syndrome (WBS) and 7q11.23 duplication syndrome (Dup7) are rare neurodevelopmental disorders caused by deletion and duplication of a 1.5 Mb region that includes at least five genes with a known role in epigenetic regulation. We have shown that CNV of this chromosome segment causes do...

Descripción completa

Detalles Bibliográficos
Autores principales:	Strong, Emma, Mervis, Carolyn B., Tam, Elaine, Morris, Colleen A., Klein-Tasman, Bonita P., Velleman, Shelley L., Osborne, Lucy R.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10502022/ https://www.ncbi.nlm.nih.gov/pubmed/37709781 http://dx.doi.org/10.1038/s41525-023-00368-7

Ejemplares similares

Association of GTF2IRD1–GTF2I polymorphisms with neuromyelitis optica spectrum disorders in Han Chinese patients
por: Xie, Jing-Lu, et al.
Publicado: (2019)

Global Analysis of Gene Expression in the Developing Brain of Gtf2ird1 Knockout Mice
por: O'Leary, Jennifer, et al.
Publicado: (2011)

Gtf2ird1-Dependent Mohawk Expression Regulates Mechanosensing Properties of the Tendon
por: Kayama, Tomohiro, et al.
Publicado: (2016)

SUMOylation of GTF2IRD1 Regulates Protein Partner Interactions and Ubiquitin-Mediated Degradation
por: Widagdo, Jocelyn, et al.
Publicado: (2012)

A Role for Transcription Factor GTF2IRD2 in Executive Function in Williams-Beuren Syndrome
por: Porter, Melanie A., et al.
Publicado: (2012)

GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders
por: López-Tobón, Alejandro, et al.
Publicado: (2023)

GTF2IRD1 overexpression promotes tumor progression and correlates with less CD8(+) T cells infiltration in pancreatic cancer
por: Zhuang, Hongkai, et al.
Publicado: (2020)

A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability
por: Pinelli, Michele, et al.
Publicado: (2020)

Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype
por: Qaiser, Farah, et al.
Publicado: (2021)

Modifications in the G.T.F. system
por: Dijkhuizen, H
Publicado: (1975)

Regulation of Recombination between gtfB/gtfC Genes in Streptococcus mutans by Recombinase A
por: Inagaki, Satoko, et al.
Publicado: (2013)

GTF2IRD1 on chromosome 7 is a novel oncogene regulating the tumor‐suppressor gene TGFβR2 in colorectal cancer
por: Nambara, Sho, et al.
Publicado: (2019)

RNA-Seq analysis of Gtf2ird1 knockout epidermal tissue provides potential insights into molecular mechanisms underpinning Williams-Beuren syndrome
por: Corley, Susan M., et al.
Publicado: (2016)

TFII-I/Gtf2i and Erythro-Megakaryopoiesis
por: Gurumurthy, Aishwarya, et al.
Publicado: (2020)

Williams Syndrome neuroanatomical score associates with GTF2IRD1 in large-scale magnetic resonance imaging cohorts: a proof of concept for multivariate endophenotypes
por: Fan, Chun Chieh, et al.
Publicado: (2018)

Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome
por: Cummings, Christopher Thomas, et al.
Publicado: (2022)

A long noncoding RNA GTF2IRD2P1 suppresses cell proliferation in bladder cancer by inhibiting the Wnt/β‑catenin signaling pathway
por: Huang, Zhuo, et al.
Publicado: (2022)

An Update on the Evolution of Glucosyltransferase (Gtf) Genes in Streptococcus
por: Xu, Rong-Rong, et al.
Publicado: (2018)

Hydroxy decenoic acid down regulates gtfB and gtfC expression and prevents Streptococcus mutans adherence to the cell surfaces
por: Yousefi, Behnam, et al.
Publicado: (2012)

Extensive characterization of a Williams Syndrome murine model shows Gtf2ird1-mediated rescue of select sensorimotor tasks, but no effect on enhanced social behavior
por: Nygaard, Kayla R., et al.
Publicado: (2023)

Extensive characterization of a Williams syndrome murine model shows Gtf2ird1‐mediated rescue of select sensorimotor tasks, but no effect on enhanced social behavior
por: Nygaard, Kayla R., et al.
Publicado: (2023)

Effects of Lactobacillus reuteri-derived biosurfactant on the gene expression profile of essential adhesion genes (gtfB, gtfC and ftf) of Streptococcus mutans
por: Salehi, Rasoul, et al.
Publicado: (2014)

Effects of biosurfactant produced by Lactobacillus casei on gtfB, gtfC, and ftf gene expression level in S. mutans by real-time RT-PCR
por: Savabi, Omid, et al.
Publicado: (2014)

Duplication and subfunctionalisation of the general transcription factor IIIA (gtf3a) gene in teleost genomes, with ovarian specific transcription of gtf3ab
por: Rojo-Bartolomé, Iratxe, et al.
Publicado: (2020)

Primary Driver Mutations in GTF2I Specific to the Development of Thymomas
por: Higuchi, Rumi, et al.
Publicado: (2020)

Tentative proposal for GTF 1000 - 0,4 power supply
por: Dijkhuizen, H
Publicado: (1974)

Consistent hypersocial behavior in mice carrying a deletion of Gtf2i but no evidence of hyposocial behavior with Gtf2i duplication: Implications for Williams–Beuren syndrome and autism spectrum disorder
por: Martin, Loren A., et al.
Publicado: (2017)

Identification and validation of immune related core transcription factors GTF2I in NAFLD
por: Zhang, Minbo, et al.
Publicado: (2022)

Differences and similarities of GTF2I mutated thymomas in different Eurasian ethnic groups
por: Lang, Matthias, et al.
Publicado: (2023)

High-throughput screening identifies histone deacetylase inhibitors that modulate GTF2I expression in 7q11.23 microduplication autism spectrum disorder patient-derived cortical neurons
por: Cavallo, Francesca, et al.
Publicado: (2020)

GTF2E2 is a novel biomarker for recurrence after surgery and promotes progression of esophageal squamous cell carcinoma via miR-139-5p/GTF2E2/FUS axis
por: Zhang, Yujie, et al.
Publicado: (2021)

Association-heterogeneity mapping identifies an Asian-specific association of the GTF2I locus with rheumatoid arthritis
por: Kim, Kwangwoo, et al.
Publicado: (2016)

A new GTF2I-BRAF fusion mediating MAPK pathway activation in pilocytic astrocytoma
por: Tomić, Tajana Tešan, et al.
Publicado: (2017)

Frequency of the 7q11.23 inversion polymorphism in transmitting parents of children with Williams syndrome and in the general population does not differ between North America and Europe
por: Morris, Colleen A, et al.
Publicado: (2011)

Effects of Complex DNA and MVs with GTF Extracted from Streptococcus mutans on the Oral Biofilm
por: Senpuku, Hidenobu, et al.
Publicado: (2019)

Association of GTF2I gene polymorphisms with renal involvement of systemic lupus erythematosus in a Chinese population
por: Meng, Yanming, et al.
Publicado: (2019)

Correction: A new GTF2I-BRAF fusion mediating MAPK pathway activation in pilocytic astrocytoma
por: Tomić, Tajana Tešan, et al.
Publicado: (2017)

Novel GTF2I–PDGFRB and IKZF1–TYW1 fusions in pediatric leukemia with normal karyotype
por: Panagopoulos, Ioannis, et al.
Publicado: (2019)

GTF2I Mutation in Thymomas: Independence From Racial-Ethnic Backgrounds. An Indian/German Comparative Study
por: Jain, Deepali, et al.
Publicado: (2021)

Significance of YAP1–MAML2 rearrangement and GTF2I mutation in the diagnosis and differential diagnosis of metaplastic thymoma
por: Wang, Minghao, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_v93v7ft6f8isu9jh5uvm802fjt