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

Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls.

Human mutation - 1 Sept 2009

Makrythanasis Periklis, Kapranov Philipp, Bartoloni Lucia, Reymond Alexandre, Deutsch Samuel, Guigó Roderic, Denoeud France, Drenkow Jorg, Rossier Colette, Ariani Francesca, Capra Valeria, Excoffier Laurent, Renieri Alessandra, Gingeras Thomas R, Antonarakis Stylianos E

Abstract excerpt

The study of transcription using genomic tiling arrays has lead to the identification of numerous additional exons. One example is the MECP2 gene on the X chromosome; using 5'RACE and RT-PCR in human tissues and cell lines, we have found more than 70 novel exons (RACEfrags) connecting to at least one annotated exon.. We sequenced all MECP2-connected exons and flanking sequences in 3 groups: 46 patients with the...

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to CDKL5 gene

Share to MECP2 gene

Share to Genetic Variation

Share to Methyl-CpG-Binding Protein 2

Share to Protein Serine-Threonine Kinases

Share to Rett Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 19562714
DOI: 10.1002/humu.21073
PMCID: PMC3708316

Genes

MECP2
CDKL5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls.PMID 19562714Read ↗

Genomic and transcriptomic analyses distinguish classic Rett and Rett-like syndrome and reveals shared altered pathways.Semantic proximity Read ↗

Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene.Semantic proximity Read ↗

A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients.Semantic proximity Read ↗

Sequence variants within exon 1 of MECP2 occur in females with mental retardation.Semantic proximity Read ↗

Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.Semantic proximity Read ↗

Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients.Semantic proximity Read ↗

Deleterious mutations in exon 1 of MECP2 in Rett syndrome.Semantic proximity Read ↗

Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls.Semantic proximity Read ↗

Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to epigenetic changes and overexpression of the MECP2 gene.Semantic proximity Read ↗

Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2.Semantic proximity Read ↗

Investigation of modifier genes within copy number variations in Rett syndrome.Semantic proximity Read ↗

Multiple de novo mutations in the MECP2 gene.Semantic proximity Read ↗

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