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Article

Rare variants in BMP2 and BMP4 found in otosclerosis patients reduce Smad signaling.

Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology - 1 Mar 2014

Ealy Megan, Meyer Nicole C, Corchado Johnny Cruz, Schrauwen Isabelle, Bress Andreas, Pfister Markus, Van Camp Guy, Smith Richard J H

Abstract excerpt

HYPOTHESIS: Genetic variation in BMP2 and BMP4 found in otosclerosis patients result in altered Smad signaling. BACKGROUND: Otosclerosis is a common form of adult-onset conductive hearing loss resulting from abnormal bone remodeling of the bony labyrinth that surrounds the inner ear. Both genetic and environmental factors are implicated in the disease, yet very little is known about its pathogenesis. The evidence...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24492129
DOI: 10.1097/MAO.0000000000000244
PMCID: PMC3945298

Genes

BMP2
BMP4

Variants

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.

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