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

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F14%3A10292898" target="_blank" >RIV/00216208:11130/14:10292898 - isvavai.cz</a>

Result on the web

<a href="http://dx.doi.org/10.1186/1471-2350-15-81" target="_blank" >http://dx.doi.org/10.1186/1471-2350-15-81</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1186/1471-2350-15-81" target="_blank" >10.1186/1471-2350-15-81</a>

Result language

angličtina

Original language name

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

Original language description

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 forassociation 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

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FH - Neurology, neuro-surgery, nuero-sciences

OECD FORD branch

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Project

<a href="/en/project/NT14348" target="_blank" >NT14348: New generation sequencing and genotyping approaches of DNA analysis for effective and comprehensive molecular diagnostics of less common and novel types of hereditary neuropaties Charcot-Marie-Tooth.</a><br>

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2014

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

BMC Medical Genetics

ISSN

1471-2350

e-ISSN

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Volume of the periodical

15

Issue of the periodical within the volume

neuveden

Country of publishing house

GB - UNITED KINGDOM

Number of pages

10

Pages from-to

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UT code for WoS article

000339517900001

EID of the result in the Scopus database

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