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

by Poletta, Fernando A , Vieira, Alexandre R , Costa, Marcelo C , Brožková, Dana Š , Patir, Asli , Abreu, Fernanda V , Sencak, Regina C , Ouyang, Hongjiao , Koruyucu, Mine , Weber, Megan L , Forella, Jessalyn , Jayaraman, Thottala , Revu, Shankar K , Antunes, Leonardo S , Bayram, Merve , Marazita, Mary L , Seymen, Figen , Mereb, Juan C , Ruff, Timothy D , Tannure, Patricia N , Castilla, Eduardo E , Kalay, Ersan , Antunes, Livia A , Hsin, Hong-Yuan , Küchler, Erika C , Hummel, Michael , Briseño-Ruiz, Jessica , Granjeiro, José M , Trombetta, Vanessa M , Shimizu, Takehiko , Deeley, Kathleen , Orioli, Iêda M

in Adolescent / Adult / Animals / Biomedical and Life Sciences / Biomedicine / Cell Line, Tumor / Child / Child, Preschool / Children & youth / Chromosomes, Human, Pair 14 / Cytogenetics / Dental caries / Dental Caries - genetics / Dental Enamel - growth & development / Enamel / Female / Gene Function / Genetic Association Studies / Genetic epidemiology and genetic associations / Hearing Loss, Sensorineural - genetics / Hearing Loss, Sensorineural - pathology / Human Genetics / Humans / Linkage Disequilibrium / Male / Medical research / Mice / Mutation / Pedigree / Polymorphism, Single Nucleotide / Receptors, Estrogen - genetics / Receptors, Estrogen - physiology / Research Article / Tooth Demineralization - genetics / Young Adult

2014

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

2014

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

2014

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Journal Article

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

Poletta, Fernando A,

Vieira, Alexandre R,

Costa, Marcelo C,

Brožková, Dana Š,

Patir, Asli,

Abreu, Fernanda V,

Sencak, Regina C,

Ouyang, Hongjiao,

Koruyucu, Mine,

Weber, Megan L,

Forella, Jessalyn,

Jayaraman, Thottala,

Revu, Shankar K,

Antunes, Leonardo S,

Bayram, Merve,

Marazita, Mary L,

Seymen, Figen,

Mereb, Juan C,

Ruff, Timothy D,

Tannure, Patricia N,

Castilla, Eduardo E,

Kalay, Ersan,

Antunes, Livia A,

Hsin, Hong-Yuan,

Küchler, Erika C,

Hummel, Michael,

Briseño-Ruiz, Jessica,

Granjeiro, José M,

Trombetta, Vanessa M,

Shimizu, Takehiko,

Deeley, Kathleen,

Orioli, Iêda M

2014

Overview

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.

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Publisher

BioMed Central

Subject

Adolescent

/ Adult

/ Animals

/ Biomedical and Life Sciences

/ Biomedicine

/ Cell Line, Tumor

/ Child