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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
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2001 6
2002 4
2003 3
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2005 7
2006 2
2007 3
2008 4
2009 3
2010 3
2011 7
2012 8
2013 4
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165 results

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Page 1
TMPRSS3 expression is limited in spiral ganglion neurons: implication for successful cochlear implantation.
Chen YS, Cabrera E, Tucker BJ, Shin TJ, Moawad JV, Totten DJ, Booth KT, Nelson RF. Chen YS, et al. J Med Genet. 2022 Dec;59(12):1219-1226. doi: 10.1136/jmg-2022-108654. Epub 2022 Aug 12. J Med Genet. 2022. PMID: 35961784 Free PMC article. Review.
BACKGROUND: It is well established that biallelic mutations in transmembrane protease, serine 3 (TMPRSS3) cause hearing loss. Currently, there is controversy regarding the audiological outcomes after cochlear implantation (CI) for TMPRSS3-associated hearing loss. .. …
BACKGROUND: It is well established that biallelic mutations in transmembrane protease, serine 3 (TMPRSS3) cause hearing loss. Current …
Genotype-Phenotype Correlations in TMPRSS3 (DFNB10/DFNB8) with Emphasis on Natural History.
Nisenbaum E, Yan D, Shearer AE, de Joya E, Thielhelm T, Russell N, Staecker H, Chen Z, Holt JR, Liu X. Nisenbaum E, et al. Audiol Neurootol. 2023;28(6):407-419. doi: 10.1159/000528766. Epub 2023 Jun 16. Audiol Neurootol. 2023. PMID: 37331337 Free PMC article. Review.
SUMMARY: In this review, we summarize TMPRSS3 genotype-phenotype relationships including a thorough description of the natural history of patients with TMPRSS3-associated hearing loss to lay the groundwork for the future of TMPRSS3 treatment using molecular t …
SUMMARY: In this review, we summarize TMPRSS3 genotype-phenotype relationships including a thorough description of the natural histor …
TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness.
Guipponi M, Antonarakis SE, Scott HS. Guipponi M, et al. Front Biosci. 2008 Jan 1;13:1557-67. doi: 10.2741/2780. Front Biosci. 2008. PMID: 17981648 Review.
Recently, we and others have shown that mutations in TMPRSS3 were responsible for autosomal recessive non-syndromic hearing loss. TMPRSS3 is a member of the Type II Transmembrane Serine Protease (TTSP) family and encodes for a protease that also contains LDLRA (low- …
Recently, we and others have shown that mutations in TMPRSS3 were responsible for autosomal recessive non-syndromic hearing loss. …
Genetic Hearing Loss Overview.
Shearer AE, Hildebrand MS, Odell AM, Smith RJH. Shearer AE, et al. 1999 Feb 14 [updated 2026 Jun 2]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 1999 Feb 14 [updated 2026 Jun 2]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 20301607 Free Books & Documents. Review.
TMPRSS3 Gene Variants With Implications for Auditory Treatment and Counseling.
Moon IS, Grant AR, Sagi V, Rehm HL, Stankovic KM. Moon IS, et al. Front Genet. 2021 Nov 19;12:780874. doi: 10.3389/fgene.2021.780874. eCollection 2021. Front Genet. 2021. PMID: 34868270 Free PMC article.
Additionally, cohort data from 18 patients, and their families, with a positive result for TMPRSS3-associated hearing loss were analyzed. Genetic testing included sequencing and copy number variation (CNV) analysis of TMPRSS3 and the Laboratory for Molecular Medicin …
Additionally, cohort data from 18 patients, and their families, with a positive result for TMPRSS3-associated hearing loss were analy …
Tmprss3 is expressed in several cell types of the inner ear including type II but hardly in type I spiral ganglion neurons.
Arora R, Pifková L, Deutschmann AU, Reisinger E. Arora R, et al. Front Cell Neurosci. 2025 Nov 12;19:1690227. doi: 10.3389/fncel.2025.1690227. eCollection 2025. Front Cell Neurosci. 2025. PMID: 41312438 Free PMC article.
Here, we revisited the expression pattern of Tmprss3 in the developing and mature mouse inner ear on mRNA level with quantitative few-cell PCR and RNAscope, and on protein level with immunohistochemistry with an anti-TMPRSS3 antibody validated on knock-out tissue. . …
Here, we revisited the expression pattern of Tmprss3 in the developing and mature mouse inner ear on mRNA level with quantitative few …
Defective Tmprss3-Associated Hair Cell Degeneration in Inner Ear Organoids.
Tang PC, Alex AL, Nie J, Lee J, Roth AA, Booth KT, Koehler KR, Hashino E, Nelson RF. Tang PC, et al. Stem Cell Reports. 2019 Jul 9;13(1):147-162. doi: 10.1016/j.stemcr.2019.05.014. Epub 2019 Jun 13. Stem Cell Reports. 2019. PMID: 31204303 Free PMC article.
Mutations in the gene encoding the type II transmembrane protease 3 (TMPRSS3) cause human hearing loss, although the underlying mechanisms that result in TMPRSS3-related hearing loss are still unclear. ...A proteolytically active TMPRSS3 was detected on cell …
Mutations in the gene encoding the type II transmembrane protease 3 (TMPRSS3) cause human hearing loss, although the underlying mecha …
Endocochlear potential contributes to hair cell death in TMPRSS3 hearing loss.
Shearer AE, Chen YS, Rouse SL, Wang X, Marin Fermin J, Booth KT, Moawad J, Libiran NB, Li J, Kim HY, Hoa M, Olszewski R, Lei JY, Cabrera E, Totten DJ, Zhao B, Holt JR, Nelson RF. Shearer AE, et al. J Clin Invest. 2025 Jul 17;135(18):e186395. doi: 10.1172/JCI186395. eCollection 2025 Sep 16. J Clin Invest. 2025. PMID: 40674144 Free PMC article.
Pathogenic variants in the gene TMPRSS3 are a common cause of hearing loss in humans, although the causal mechanisms remain unknown. ...These findings suggest that extracellular factors, including EP, play a role in TMPRSS3-related hair cell survival and hearing los …
Pathogenic variants in the gene TMPRSS3 are a common cause of hearing loss in humans, although the causal mechanisms remain unknown. …
Structural analysis of pathogenic TMPRSS3 variants and their cochlear implantation outcomes of sensorineural hearing loss.
Lee SJ, Lee S, Han JH, Choi BY, Lee JH, Lee DH, Lee SY, Oh SH. Lee SJ, et al. Gene. 2023 May 20;865:147335. doi: 10.1016/j.gene.2023.147335. Epub 2023 Mar 4. Gene. 2023. PMID: 36871673
Biallelic variants in TMPRSS3 typically result in altered protease activity, causing autosomal recessive non-syndromic hearing loss (ARNSHL). ...Seven different mutant alleles, either homozygous or compound heterozygous, contributed to TMPRSS3-associated ARNSHL, exp …
Biallelic variants in TMPRSS3 typically result in altered protease activity, causing autosomal recessive non-syndromic hearing loss ( …
Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes.
Carlson RJ, Walsh T, Mandell JB, Aburayyan A, Lee MK, Gulsuner S, Horn DL, Ou HC, Sie KCY, Mancl L, Rubinstein J, King MC. Carlson RJ, et al. JAMA Otolaryngol Head Neck Surg. 2023 Mar 1;149(3):212-222. doi: 10.1001/jamaoto.2022.4463. JAMA Otolaryngol Head Neck Surg. 2023. PMID: 36633841 Free PMC article.
For children with causative mutations in MYO6, OTOA, SLC26A4, TMPRSS3, or severe loss-of-function variants in GJB2, hearing loss was progressive, with losses of more than 10 dB per decade. ...Adjusting for age at implant and interval since implant, speech perception was hi …
For children with causative mutations in MYO6, OTOA, SLC26A4, TMPRSS3, or severe loss-of-function variants in GJB2, hearing loss was …
165 results