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

E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome.

Human molecular genetics - 1 Apr 2003

Ohno Kinji, Sadeh Menachem, Blatt Ilan, Brengman Joan M, Engel Andrew G

Abstract excerpt

Myogenic determination factors are basic helix-loop-helix proteins that govern specification and differentiation of muscle cells, and bind to the E-box consensus sequence CANNTG in promoter regions of muscle-specific genes. No E-box mutation has been reported to date. RAPSN encodes rapsyn, a 43 kDa postsynaptic peripheral membrane protein that clusters the nicotinic acetylcholine receptor at the motor endplate....

Read the complete abstract on PubMed

Topics

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

Share to Enhancer Elements, Genetic
Share to Facies
Share to Genes, Reporter

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Luciferases

Share to Microscopy, Fluorescence

Share to Muscle Proteins

Share to Muscles

Share to Myasthenic Syndromes, Congenital

Source

Identifiers

PMID: 12651869
DOI: 10.1093/hmg/ddg089

Genes

RAPSN

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

E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome.PMID 12651869Read ↗

A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome.Semantic proximity Read ↗

A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome.Semantic proximity Read ↗

A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome.Semantic proximity Read ↗

Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.Semantic proximity Read ↗

Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes.Semantic proximity Read ↗

Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.Semantic proximity Read ↗

Mutation of the acetylcholine receptor epsilon-subunit promoter in congenital myasthenic syndrome.Semantic proximity Read ↗

Structural and functional characterization of the human PAX7 5'-flanking regulatory region.Semantic proximity Read ↗

Human promoter analysis of the Programmed Axon Death genes <i>NMNAT2</i> and <i>SARM1</i>Semantic proximity Read ↗

Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes.Semantic proximity Read ↗

Acetylcholinesterase Expression in Muscle Is Specifically Controlled by a Promoter-Selective Enhancesome in the First IntronSemantic proximity Read ↗

Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations.Semantic proximity Read ↗

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