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    Fine-Mapping of 5q12.1-13.3 unveils new genetic contributors to caries
    (Karger, 2013) Shimizu, Takehiko; Deeley, Kathleen; Briseno Ruiz, Jessica; Faraco, Italo Medeiros; Poletta, Fernando Adrian; Brancher, Joao Armando; Pecharki, Giovana Daniela; Kuechler, Erika Calvano; Tannure, Patricia Nivoloni; Lips, Andrea; Vieira, Thays Cristinedos Santos; Patır, Aslı; Yıldırım, Mine; Mereb, Juan Carlos; Resick, Judith; Brandon, Carla; Cooper, Margaret; Seymen, Figen; Costa, Marcelo de Castro; Granjeiro, Jose Mauro; Trevilatto, Paula Cristina; Orioli, Ieda Maria; Castilla, Eduardo Enrique; Marazita, Mary Louise; Vieira, Alexandre Rezende
    Caries is a multifactorial disease and little is still known about the host genetic factors influencing susceptibility. Our previous genome-wide linkage scan has identified the interval 5q12.1-5q13.3 as linked to low caries susceptibility in Filipino families. Here we fine-mapped this region in order to identify genetic contributors to caries susceptibility. Four hundred and seventy-seven subjects from 72 pedigrees with similar cultural and behavioral habits and limited access to dental care living in the Philippines were studied. DMFT scores and genotype data of 75 single-nucleotide polymorphisms were evaluated in the Filipino families with the Family-Based Association Test. For replication purposes, a total 1,467 independent subjects from five different populations were analyzed in a case-control format. In the Filipino cohort, statistically significant and borderline associations were found between low caries experience and four genes spanning 13 million base pairs (PART1, ZSWIM6, CCNB1, and BTF3). We were able to replicate these results in some of the populations studied. We detected PART1 and BTF3 expression in whole saliva, and the expression of BTF3 was associated with caries experience. Our results suggest BTF3 may have a functional role in protecting against caries.
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    Role of estrogen related receptor beta (ESRRB) in DFN35B hearing impairment and dental decay
    (BMC, 2014) Weber, Megan L.; Hsin, Hong-Yuan; Kalay, Ersan; Brozkova, Dana Safka; Shimizu, Takehiko; Bayram, Merve; Deeley, Kathleen; Kuchler, Erika Calvano; Forella, Jessalyn; Ruff, Timothy; Trombetta, Vanessa M.; Sencak, Regina C.; Hummel, Michael; Briseno-Ruiz, Jessica; Revu, Shankar; Granjeiro, Jose Mauro; Antunes, Leonardo Dos Santos; Alves Antunes, Livia Azeredo; Abreu, Fernanda; Costa, Marcelo Castro; Tannure, Patricia Nivoloni; Koruyucu, Mine; Patır, Aslı; Poletta, Fernando; Mereb, Juan C.; Castilla, Eduardo Enrique; Orioli, Leda M.; Marazita, Mary L.; Ouyang, Hongjiao; Jayaraman, Thottala; Seymen, Figen; Vieira, Alexandre Rezende
    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.