Mecp2 Duplication Syndrome - Neonatal Disorders

Relevant Publications

Nodding syndrome: A role for environmental biotoxins that dysregulate MECP2 expression?

Issue Release: 2024

A Cas9-fusion proximity-based approach generates an Irak1-Mecp2 tandem duplication mouse model for the study of MeCP2 duplication syndrome.

Issue Release: 2024

Multi-omics in MECP2 duplication syndrome patients and carriers.

Issue Release: 2024

Imbalance between hippocampal projection cell and parvalbumin interneuron architecture increases epileptic susceptibility in mouse model of methyl CpG binding protein 2 duplication syndrome.

Issue Release: 2024

Development and validation of parent-reported gastrointestinal health scale in MECP2 duplication syndrome.

Issue Release: 2024

Synthetic dosage-compensating miRNA circuits for quantitative gene therapy.

Issue Release: 2024

MECP2-related disorders while gene-based therapies are on the horizon.

Issue Release: 2024

MeCP2 Interacts with the Super Elongation Complex to Regulate Transcription.

Issue Release: 2024

Sensory experiences questionnaire unravels differences in sensory profiles between MECP2-related disorders.

Issue Release: 2024

Modeling antisense oligonucleotide therapy in MECP2 duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels.

Issue Release: 2024

POMC-specific knockdown of MeCP2 leads to adverse phenotypes in mice chronically exposed to high fat diet.

Issue Release: 2024

Genetic analysis of a pedigree with MECP2 duplication syndrome in China.

Issue Release: 2024

[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with co-morbid Ornithine carbamoyl transferase deficiency and MECP2 duplication syndrome].

Issue Release: 2024

USP15 inhibits hypoxia-induced IL-6 signaling by deubiquitinating and stabilizing MeCP2.

Issue Release: 2024

Multi-gene duplication removal in an engineered human cellular MECP2 duplication syndrome model with an duplication.

Issue Release: 2024

Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.

Issue Release: 2024

An RNA editing strategy rescues gene duplication in a mouse model of MECP2 duplication syndrome and nonhuman primates.

Issue Release: 2024

The Efficacy of a Human-Ready mini Gene Therapy in a Pre-Clinical Model of Rett Syndrome.

Issue Release: 2023

An insertion mutation of the MECP2 gene in severe neonatal encephalopathy and ocular and oropharyngeal dyskinesia: a case report.

Issue Release: 2023

[Diagnostic value of whole exome sequencing for patients with intellectual disability or global developmental delay].

Issue Release: 2023

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