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Role of estrogen related receptor beta (ESRRB) in DFN35B hearing impairment and dental decay

Weber, ML and Hsin, HY and Kalay, E and Brožková, DT and Shimizu, T and Bayram, M and Deeley, K and Küchler, EC and Forella, J and Ruff, TD and Trombetta, VM and Sencak, RC and Hummel, M and Briseño-Ruiz, J and Revu, SK and Granjeiro, JM and Antunes, LS and Antunes, LA and Abreu, FV and Costa, MC and Tannure, PN and Koruyucu, M and Patir, A and Poletta, FA and Mereb, JC and Castilla, EE and Orioli, IM and Marazita, ML and Ouyang, H and Jayaraman, T and Seymen, F and Vieira, AR (2014) Role of estrogen related receptor beta (ESRRB) in DFN35B hearing impairment and dental decay. BMC Medical Genetics, 15 (1).

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Background: Congenital forms of hearing impairment can be caused by mutations in the estrogen related receptor beta (ESRRB) gene. Our initial linkage studies suggested the ESRRB locus is linked to high caries experience in humans.Methods: We tested for association between the ESRRB locus and dental caries in 1,731 subjects, if ESRRB was expressed in whole saliva, if ESRRB was associated with the microhardness of the dental enamel, and if ESRRB was expressed during enamel development of mice.Results: Two families with recessive ESRRB mutations and DFNB35 hearing impairment showed more extensive dental destruction by caries. Expression levels of ESRRB in whole saliva samples showed differences depending on sex and dental caries experience.Conclusions: The common etiology of dental caries and hearing impairment provides a venue to assist in the identification of individuals at risk to either condition and provides options for the development of new caries prevention strategies, if the associated ESRRB genetic variants are correlated with efficacy. © 2014 Weber et al.; licensee BioMed Central Ltd.


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Item Type: Article
Status: Published
CreatorsEmailPitt UsernameORCID
Weber, MLmlw52@pitt.eduMLW52
Hsin, HY
Kalay, E
Brožková, DT
Shimizu, T
Bayram, M
Deeley, Kkbd1@pitt.eduKBD1
Küchler, EC
Forella, J
Ruff, TD
Trombetta, VM
Sencak, RCrcs48@pitt.eduRCS48
Hummel, Mmlh3@pitt.eduMLH3
Briseño-Ruiz, J
Revu, SK
Granjeiro, JM
Antunes, LS
Antunes, LA
Abreu, FV
Costa, MC
Tannure, PN
Koruyucu, M
Patir, A
Poletta, FA
Mereb, JC
Castilla, EE
Orioli, IM
Marazita, MLmarazita@pitt.eduMARAZITA
Ouyang, Hhoo1@pitt.eduHOO1
Jayaraman, Ttja12@pitt.eduTJA12
Seymen, F
Vieira, ARarv11@pitt.eduARV11
Date: 15 July 2014
Date Type: Publication
Journal or Publication Title: BMC Medical Genetics
Volume: 15
Number: 1
DOI or Unique Handle: 10.1186/1471-2350-15-81
Schools and Programs: School of Dental Medicine > Dental Science
Refereed: Yes
Date Deposited: 19 Sep 2016 15:48
Last Modified: 20 Feb 2020 13:55


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