Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The impact of MECP2 mutations in the expression patterns of Rett syndrome patients.

Human genetics - 1 Jan 2005

Ballestar Esteban, Ropero Santiago, Alaminos Miguel, Armstrong Judith, Setien Fernando, Agrelo Ruben, Fraga Mario F, Herranz Michel, Avila Sonia, Pineda Mercedes, Monros Eugenia, Esteller Manel

Abstract excerpt

Rett syndrome (RTT), the second most common cause of mental retardation in females, has been associated with mutations in MeCP2, the archetypical member of the methyl-CpG binding domain (MBD) family of proteins. MeCP2 additionally possesses a transcriptional repression domain (TRD). We have compa...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Blotting, Western
Share to Chromosomal Proteins, Non-Histone

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Methylation

Share to Gene Expression Profiling

Share to Gene Expression Regulation

Share to Methyl-CpG-Binding Protein 2

Share to Repressor Proteins

Share to Rett Syndrome

Source

Identifiers

PMID: 15549394
DOI: 10.1007/s00439-004-1200-0

Genes

MECP2
TRD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15549394-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The impact of MECP2 mutations in the expression patterns of Rett syndrome patients.PMID 15549394Read ↗

Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations.Semantic proximity Read ↗

MeCP2 dysfunction in Rett syndrome and related disorders.Semantic proximity Read ↗

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.Semantic proximity Read ↗

Rett syndrome and MeCP2.Semantic proximity Read ↗

The molecular pathology of Rett syndrome: synopsis and update.Semantic proximity Read ↗

Methyl-CpG-binding protein 2 mediates overlapping mechanisms across brain disorders.Semantic proximity Read ↗

MECP2 and beyond: phenotype-genotype correlations in Rett syndrome.Semantic proximity Read ↗

MECP2 Dysfunction in Rett Syndrome: Molecular Mechanisms, Multisystem Pathology, and Emerging Therapeutic Strategies.Semantic proximity Read ↗

Evolving role of MeCP2 in Rett syndrome and autism.Semantic proximity Read ↗

Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome.Semantic proximity Read ↗

MECP2 directly interacts with RNA polymerase II to modulate transcription in human neurons.Semantic proximity Read ↗

Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approachSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.