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

Association of transforming growth factor β-1 (TGFB1) regulatory region polymorphisms with myasthenia gravis-related ophthalmoparesis.

Journal of neuroimmunology - 15 May 2012

Akinyi M V, Dandara C, Gamieldien J, Heckmann J M

Abstract excerpt

We investigated the association of an ophthalmoplegic complication developing in African myasthenia gravis (MG) subjects with polymorphisms in the regulatory region of TGFB1. We found significant associations with several putative functional single nucleotide polymorphisms (SNPs) (including two novel SNPs) that potentially alter transcription factor binding. Our data support a hypothesis that altered TGFB1...

Read the complete abstract on PubMed

Topics

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

Share to Fibrosis
Share to Muscle, Skeletal
Share to Myasthenia Gravis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ophthalmoplegia

Share to Polymorphism, Single Nucleotide

Share to South Africa

Share to Transforming Growth Factor beta1

Share to Up-Regulation

Source

Identifiers

PMID: 22458981
DOI: 10.1016/j.jneuroim.2012.03.002

Genes

TGFB1

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

Association of transforming growth factor β-1 (TGFB1) regulatory region polymorphisms with myasthenia gravis-related ophthalmoparesis.PMID 22458981Read ↗

The African-387 C>T TGFB1 variant is functional and associates with the ophthalmoplegic complication in juvenile myasthenia gravis.Semantic proximity Read ↗

A functional SNP in the regulatory region of the decay-accelerating factor gene associates with extraocular muscle pareses in myasthenia gravis.Semantic proximity Read ↗

Using Whole Genome Sequencing in an African Subphenotype of Myasthenia Gravis to Generate a Pathogenetic HypothesisSemantic proximity Read ↗

Allelic diversity in the TGFB1 regulatory region: characterization of novel functional single nucleotide polymorphisms.Semantic proximity Read ↗

Genetics of myasthenia gravis: a case-control association study in the Hellenic population.Semantic proximity Read ↗

TGFBR3 variation is not a common cause of Marfan-like syndrome and Loeys-Dietz-like syndrome.Semantic proximity Read ↗

The functionality of African-specific variants in the TGFB1 regulatory region and their potential role in HIVAN.Semantic proximity Read ↗

Novel single nucleotide polymorphisms in the 3'-UTR of the TGFbetaRI and TGFbetaRIII genes.Semantic proximity Read ↗

Myasthenia gravis in South Africans: racial differences in clinical manifestations.Semantic proximity Read ↗

Polymorphisms in IL-1beta and IL-1 receptor antagonist genes are associated with myasthenia gravis.Semantic proximity Read ↗

Mitochondrial DNA lineages of African origin confer susceptibility to primary open-angle glaucoma in Saudi patients.Semantic proximity Read ↗

Contribution of TGFβ1 codon 10 polymorphism to high myopia in an ethnic Kashmiri population from India.Semantic proximity Read ↗

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