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

Single-nucleotide polymorphisms in the COL1A1 regulatory regions are associated with otosclerosis.

Clinical genetics - 1 May 2007

Chen W, Meyer N C, McKenna M J, Pfister M, McBride D J, Fukushima K, Thys M, Camp G V, Smith R J H

Abstract excerpt

Otosclerosis (MIM 166800) has a prevalence of 0.2-1% among white adults, making it the single most common cause of hearing impairment in this ethnic group. Although measles virus, hormones, human leukocyte antigen alleles and genetic factors have been implicated in the development of otosclerosis...

Read the complete abstract on PubMed

Topics

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

Share to Collagen Type I
Share to Binding Sites
Share to Cells, Cultured

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Collagen Type I, alpha 1 Chain

Share to Hearing Loss

Share to Mice, Inbred C57BL

Share to Otosclerosis

Share to Regulatory Elements, Transcriptional

Source

Identifiers

PMID: 17489845
DOI: 10.1111/j.1399-0004.2007.00794.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17489845-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

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

Single-nucleotide polymorphisms in the COL1A1 regulatory regions are associated with otosclerosis.PMID 17489845Read ↗

<i>COL1A1</i> association and otosclerosis: A meta‐analysisSemantic proximity Read ↗

Association of COL1A1 and TGFB1 polymorphisms with otosclerosis in a Tunisian population.Semantic proximity Read ↗

Evaluation of the Genetic Association and mRNA Expression of the COL1A1, BMP2, and BMP4 Genes in the Development of Otosclerosis.Semantic proximity Read ↗

The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations.Semantic proximity Read ↗

The etiology of otosclerosis: a combination of genes and environment.Semantic proximity Read ↗

Molecular biology of otosclerosis.Semantic proximity Read ↗

A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) geneSemantic proximity Read ↗

A Pathogenic Deletion in Forkhead Box L1 (FOXL1) Identifies the First Otosclerosis (OTSC) GeneSemantic proximity Read ↗

Genetic variants and altered expression of SERPINF1 confer disease susceptibility in patients with otosclerosis.Semantic proximity Read ↗

Genetic association and gene expression profiles of TGFB1 and the contribution of TGFB1 to otosclerosis susceptibility.Semantic proximity Read ↗

Genome-wide Screen of Otosclerosis in Population Biobanks: 18 Loci and Shared Heritability with Skeletal StructureSemantic proximity Read ↗

Osteoprotegerin gene polymorphisms and otosclerosis: an additional genetic association study, multilocus interaction and meta-analysis.Semantic proximity Read ↗

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