Varaico: Literature-Extracted Genetic Variants

Gene:ARTN
Variant:p.R133C
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ARTN

NM_057091.3:p.R133C

Associated Papers

MeCP2-driven chromatin organization controls nuclear stiffness.

Romero H et al.

Communications Biology, 2025

Interpreting the rich dialogue between astrocytes and neurons: An overview in Rett syndrome.

Postogna FM et al.

Brain Research Bulletin, 2025

MeCP2 ubiquitination and sumoylation, in search of a function†.

Kalani L et al.

Human Molecular Genetics, 2023

Unexpected thermodynamic signature for the interaction of hydroxymethylated DNA with MeCP2.

Ortega-Alarcon D et al.

International Journal of Biological Macromolecules, 2023

Mutations in the transcriptional regulator MeCP2 severely impact key cellular and molecular signatures of human astrocytes during maturation.

Sun J et al.

Cell Reports, 2023

Rett Syndrome and MECP2 Duplication Syndrome: Disorders of MeCP2 Dosage.

Collins BE et al.

Neuropsychiatric Disease and Treatment, 2022

Rett Syndrome: A Timely Review From Recognition to Current Clinical Approaches and Clinical Study Updates.

Ivy AS et al.

Seminars in Pediatric Neurology, 2021

Molecular Context-Dependent Effects Induced by Rett Syndrome-Associated Mutations in MeCP2.

Ortega-Alarcon D et al.

Biomolecules, 2020

The course of awake breathing disturbances across the lifespan in Rett syndrome.

Tarquinio DC et al.

Brain & Development, 2018

The intervening domain from MeCP2 enhances the DNA affinity of the methyl binding domain and provides an independent DNA interaction site.

Claveria-Gimeno R et al.

Scientific Reports, 2017

From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2.

Sheikh TI et al.

Scientific Reports, 2016

Binding Analysis of Methyl-CpG Binding Domain of MeCP2 and Rett Syndrome Mutations.

Yang Y et al.

Acs Chemical Biology, 2016

Visual evoked potentials detect cortical processing deficits in Rett syndrome.

LeBlanc JJ et al.

Annals of Neurology, 2015

Epigenetics, autism spectrum, and neurodevelopmental disorders.

Rangasamy S et al.

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2013

MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders.

Psoni S et al.

Brain & Development, 2012

IGF1 as a Potential Treatment for Rett Syndrome: Safety Assessment in Six Rett Patients.

Pini G et al.

Autism Research and Treatment, 2012

Epilepsy in Rett syndrome: association between phenotype and genotype, and implications for practice.

Cardoza B et al.

Seizure, 2011

F₄-neuroprostanes mediate neurological severity in Rett syndrome.

Signorini C et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011

Epilepsy in Rett syndrome: clinical and genetic features.

Pintaudi M et al.

Epilepsy & Behavior : E&b, 2010

The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome.

Zeev BB et al.

Neurology, 2009

Rett syndrome-causing mutations in human MeCP2 result in diverse structural changes that impact folding and DNA interactions.

Ghosh RP et al.

The Journal of Biological Chemistry, 2008

High levels of MeCP2 depress MHC class I expression in neuronal cells.

Miralvès J et al.

Plos One, 2007

The MECP2 gene mutation screening in Rett syndrome patients from Croatia.

Matijević T et al.

Annals of the New York Academy of Sciences, 2006

Structure-specific binding of MeCP2 to four-way junction DNA through its methyl CpG-binding domain.

Galvão TC et al.

Nucleic Acids Research, 2005

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."