Genetics of otosclerosis: finally catching up with other complex traits?

LJM Tavernier, E Fransen, H Valgaeren, G Van Camp - Human Genetics, 2022 - Springer
Otosclerosis is a relatively common cause of hearing impairment, characterized by abnormal
bone remodeling of the middle and inner ear. In about 50–60% of the patients, the disease …

[HTML][HTML] Brazilian Society of Otology task force-Otosclerosis: evaluation and treatment

VAR Silva, HF Pauna, J Lavinsky… - Brazilian Journal of …, 2023 - SciELO Brasil
Objectives: To review and provide evidence-based recommendations for the diagnosis and
treatment of otosclerosis. Methods: Task force members were educated on knowledge …

Genetic variants and altered expression of SERPINF1 confer disease susceptibility in patients with otosclerosis

N Singh, K Hansdah, A Bouzid, CS Ray… - Journal of Human …, 2023 - nature.com
Otosclerosis (OTSC) is a focal and diffuse bone disorder of the human middle ear
characterized by abnormal bone growth and deposition at the stapes' footplate. This hinders …

The risks of RELN polymorphisms and its expression in the development of otosclerosis

S Priyadarshi, K Hansdah, N Singh, A Bouzid, CS Ray… - Plos one, 2022 - journals.plos.org
Otosclerosis (OTSC) is the primary form of conductive hearing loss characterized by
abnormal bone remodelling within the otic capsule of the human middle ear. A genetic …

SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice

M Drabkin, MM Jean, Y Noy, D Halperin… - Journal of medical …, 2024 - jmg.bmj.com
Background Otosclerosis is a common cause of adult-onset progressive hearing loss,
affecting 0.3%–0.4% of the population. It results from dysregulation of bone homeostasis in …

Genetic Association of rs1021188 and DNA Methylation Signatures of TNFSF11 in the Risk of Conductive Hearing Loss

A Bouzid, A Chelly, A Tekari, N Singh… - Frontiers in …, 2022 - frontiersin.org
Otosclerosis (OTSC) is a complex bone disorder of the otic capsule, which causes
conductive hearing impairment in human adults. The dysregulation of the signaling axis …

Mutations in the osteoprotegerin-encoding gene are associated with temporomandibular joint ankylosis

PF Corso, RA Machado, JT Gerber… - Oral Surgery, Oral …, 2022 - Elsevier
Objective This study aimed to investigate genetic variations in the osteoprotegerin-encoding
gene (TNFRSF11B) in patients with temporomandibular joint ankylosis (TMJA). Study …

[HTML][HTML] Case–Control Genotyping of the c. 788C> T Variant of Transforming Growth Factor-Beta 1 Gene in Otosclerosis in the South Indian Population

D Kale, S Rekha, S Vinoth, R Ramalingam… - The Journal of …, 2022 - ncbi.nlm.nih.gov
Background: Otosclerosis is a common conductive hearing loss resulting from abnormal
bone metabolism. The c. 788C> T variant in the transforming growth factor-beta 1 gene is …

[HTML][HTML] Plugging of a Dehiscent Superior Semicircular Canal Damages the Spiral Ganglion Regardless of the Material Used

P Kwok, O Gleich, K Utpatel, C Bohr… - … -Head & Neck Surgery …, 2022 - scitemed.com
The purpose of this study is to investigate the potential damage to the cochlea caused by
plugging a dehiscent superior semicircular canal with different plugging materials in a …

Outcome of stapedotomy in the treatment of otosclerosis in a tertiary care hospital: A retrospective study

A Noor, K Anwar, M Arif, S Khan, Q Khan, A Khan - KJMS, 2021 - kjms.com.pk
Objectives: The aim of this retrospective study is to assess the treatment outcome with
respect to improvement in hearing after stapedotomy for otosclerosis in a tertiary care …