Cargando…

DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome

JARID2 (Jumonji, AT Rich Interactive Domain 2) pathogenic variants cause a neurodevelopmental syndrome, that is characterized by developmental delay, cognitive impairment, hypotonia, autistic features, behavior abnormalities and dysmorphic facial features. JARID2 encodes a transcriptional repressor...

Descripción completa

Detalles Bibliográficos
Autores principales:	Verberne, Eline A., van der Laan, Liselot, Haghshenas, Sadegheh, Rooney, Kathleen, Levy, Michael A., Alders, Mariëlle, Maas, Saskia M., Jansen, Sandra, Lieden, Agne, Anderlid, Britt-Marie, Rafael-Croes, Louise, Campeau, Philippe M., Chaudhry, Ayeshah, Koolen, David A., Pfundt, Rolph, Hurst, Anna C. E., Tran-Mau-Them, Frederic, Bruel, Ange-Line, Lambert, Laetitia, Isidor, Bertrand, Mannens, Marcel M. A. M., Sadikovic, Bekim, Henneman, Peter, van Haelst, Mieke M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9322505/ https://www.ncbi.nlm.nih.gov/pubmed/35887345 http://dx.doi.org/10.3390/ijms23148001

Ejemplares similares

Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature
por: van der Laan, Liselot, et al.
Publicado: (2023)

Diagnostic Utility of Genome-Wide DNA Methylation Analysis in Mendelian Neurodevelopmental Disorders
por: Haghshenas, Sadegheh, et al.
Publicado: (2020)

Further Introduction of DNA Methylation (DNAm) Arrays in Regular Diagnostics
por: Mannens, M. M. A. M., et al.
Publicado: (2022)

Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency
por: Verberne, Eline A., et al.
Publicado: (2020)

Clinical and community genetics services in the Dutch Caribbean
por: Verberne, Eline A., et al.
Publicado: (2021)

Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
por: Haghshenas, Sadegheh, et al.
Publicado: (2021)

Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome
por: van der Laan, Liselot, et al.
Publicado: (2022)

Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
por: Sadikovic, Bekim, et al.
Publicado: (2021)

Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
por: Sadikovic, Bekim, et al.
Publicado: (2021)

Inactive yet indispensable: the tale of Jarid2
por: Landeira, David, et al.
Publicado: (2011)

DNA Methylation Episignatures in Neurodevelopmental Disorders Associated with Large Structural Copy Number Variants: Clinical Implications
por: Rooney, Kathleen, et al.
Publicado: (2022)

Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics
por: Krzyzewska, I. M., et al.
Publicado: (2019)

Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome
por: Rooney, Kathleen, et al.
Publicado: (2021)

A Case of SF3B1-Positive Myelodysplastic/Myeloproliferative Neoplasm with Ring Sideroblasts and Thrombocytosis
por: Lazo-Langner, Alejandro, et al.
Publicado: (2019)

Function of JARID2 in bovines during early embryonic development
por: Fu, Yao, et al.
Publicado: (2017)

A novel form of JARID2 is required for differentiation in lineage‐committed cells
por: Al‐Raawi, Diaa, et al.
Publicado: (2018)

Jarid2 promotes temporal progression of retinal progenitors via repression of Foxp1
por: Zhang, Jianmin, et al.
Publicado: (2023)

Jarid2 promotes temporal progression of retinal progenitors via repression of Foxp1
por: Zhang, Jianmin, et al.
Publicado: (2023)

Targeting JARID1B’s demethylase activity blocks a subset of its functions in oral cancer
por: Facompre, Nicole D., et al.
Publicado: (2017)

Sex-Specific Expression of the X-Linked Histone Demethylase Gene Jarid1c in Brain
por: Xu, Jun, et al.
Publicado: (2008)

4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype
por: Verberne, Eline A., et al.
Publicado: (2020)

Regulation of oncogenic PI3-kinase signaling by JARID1B
por: Facompre, Nicole D., et al.
Publicado: (2017)

Jarid2 is essential for the maintenance of tumor initiating cells in bladder cancer
por: Zhu, Xin-Xing, et al.
Publicado: (2017)

Complexity in Genetic Epilepsies: A Comprehensive Review
por: Rastin, Cassandra, et al.
Publicado: (2023)

Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean
por: Verberne, Eline A., et al.
Publicado: (2022)

Expression Quantitative Trait Methylation Analysis Identifies Whole Blood Molecular Footprint in Fetal Alcohol Spectrum Disorder (FASD)
por: Krzyzewska, Izabela M., et al.
Publicado: (2023)

Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome
por: Foroutan, Aidin, et al.
Publicado: (2022)

Functional analysis of the breast cancer associated transcriptional repressor PLU-1/JARID1B
por: Taylor-Papadimitriou, J, et al.
Publicado: (2006)

Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere
por: van der Laan, Liselot, et al.
Publicado: (2023)

Late-stage differentiation of embryonic pancreatic β-cells requires Jarid2
por: Cervantes, Sara, et al.
Publicado: (2017)

Who ever heard of 16p11.2 deletion syndrome? Parents’ perspectives on a susceptibility copy number variation syndrome
por: Kleinendorst, Lotte, et al.
Publicado: (2020)

A genome-wide DNA methylation signature for SETD1B-related syndrome
por: Krzyzewska, I. M., et al.
Publicado: (2019)

A Patient with Moderate Intellectual Disability and 49, XXXYY Karyotype
por: Verhoeven, Willem M A, et al.
Publicado: (2022)

SKP2 inactivation suppresses prostate tumorigenesis by mediating JARID1B ubiquitination
por: Lu, Wenfu, et al.
Publicado: (2014)

Prognostic significance of RBP2-H1 variant of JARID1B in melanoma
por: Kuźbicki, Łukasz, et al.
Publicado: (2017)

Autoregulation of JARID2 through PRC2 interaction with its antisense ncRNA
por: Al-Raawi, Diaa, et al.
Publicado: (2020)

A case of congenital prothrombin deficiency with two concurrent mutations in the prothrombin gene
por: Mansory, Eman M., et al.
Publicado: (2021)

Genotypic analysis of a large cohort of patients with suspected atypical hemolytic uremic syndrome
por: Connaughton, Dervla M., et al.
Publicado: (2023)

Chemically induced DNA hypomethylation in breast carcinoma cells detected by the amplification of intermethylated sites
por: Sadikovic, Bekim, et al.
Publicado: (2004)

Overexpression of JARID1B is associated with poor prognosis and chemotherapy resistance in epithelial ovarian cancer
por: Wang, Lishuang, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_plvb7u39q7u0u4emlo1si8dbef