Aquaporin 5 Interacts with Fluoride and Possibly Protects against Caries.

Autor: Ida Anjomshoaa, Jessica Briseño-Ruiz, Kathleen Deeley, Fernardo A Poletta, Juan C Mereb, Aline L Leite, Priscila A T M Barreta, Thelma L Silva, Piper Dizak, Timothy Ruff, Asli Patir, Mine Koruyucu, Zerrin Abbasoğlu, Priscila L Casado, Andrew Brown, Samer H Zaky, Merve Bayram, Erika C Küchler, Margaret E Cooper, Kai Liu, Mary L Marazita, İlknur Tanboğa, José M Granjeiro, Figen Seymen, Eduardo E Castilla, Iêda M Orioli, Charles Sfeir, Hongjiao Owyang, Marília A R Buzalaf, Alexandre R Vieira

Publikováno v: PLoS ONE, Vol 10, Iss 12, p e0143068 (2015)

Aquaporins (AQP) are water channel proteins and the genes coding for AQP2, AQP5, and AQP6 are clustered in 12q13. Since AQP5 is expressed in serous acinar cells of salivary glands, we investigated its involvement in caries. DNA samples from 1,383 ind

Externí odkaz: https://doaj.org/article/fa8123d599924aa0ac391f8900899508

Third molar agenesis as a potential marker for craniofacial deformities

Autor: Mary L. Marazita, Italo M. Faraco, Clarissa Christina Avelar Fernandez, Maria Arnaudo, Iêda M. Orioli, Eduardo E. Castilla, Flávia Martinez de Carvalho, Alexandre R. Vieira, Juan C. Mereb, Marcelo de Castro Costa, Fernando E. Poletta, Christiane Vasconcellos Cruz Alves Pereira, Ronir Raggio Luiz

Publikováno v: Archives of Oral Biology. 88:19-23

The identification of clinical patterns of tooth agenesis in individuals born with craniofacial deformities may be a useful tool for risk determination of these defects. We hypothesize that specific craniofacial deformities are associated with third

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::854dd333cdf3b05633087dadd693cca9
https://doi.org/10.1016/j.archoralbio.2018.01.010

PVR/CD155 Ala67Thr Mutation and Cleft Lip/Palate

Autor: Eduardo E. Castilla, Takehiko Shimizu, José Mauro Granjeiro, Juan C. Mereb, Alexandre R. Vieira, Ariadne Letra, Renato Menezes Silva, Fernando A. Poletta, Iêda M. Orioli

Publikováno v: The Journal of craniofacial surgery. 29(2)

The 19q13 locus has been linked to cleft lip and palate by our group and independently by others. Here we fine mapped the region in an attempt to identify an etiological variant that can explain cleft lip and palate occurrence. A total of 2739 indivi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46d5b94fa5e8acfa5c0f26b8811a9af8
https://pubmed.ncbi.nlm.nih.gov/29381645

A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3

Autor: Carmen J. Buxó, Katherine Neiswanger, Ana Maria Lopez-Palacio, Lian Ma, Mauricio Arcos-Burgos, Luz Consuelo Valencia-Ramirez, Seth M. Weinberg, Jacqueline T. Hecht, Dora Rivera Valencia, Eva Maria Cutiongco-de la Paz, Eduardo E. Castilla, Robert A. Cornell, Toby Goldstein McHenry, Babatunde S. Aregbesola, Mary L. Marazita, Elizabeth J. Leslie, Flávia Martinez de Carvalho, Lina M. Moreno, Andrew E. Czeizel, Mekonen Eshete, Cecelia A. Laurie, John R. Shaffer, Carmencita Padilla, Rolv T. Lie, Carla A. Sanchez, Ramat Oyebunmi Braimah, Jennifer Standley, Peter A. Mossey, Susan H. Blanton, Iêda M. Orioli, Kaare Christensen, Olutayo James, Frederic W.-B. Deleyiannis, Javier Enríquez de Salamanca, Alexandre R. Vieira, Wasiu Lanre Adeyemo, Huan Liu, Allen J. Wilcox, Jenna C. Carlson, George L. Wehby, Paul A. Romitti, Ronald G. Munger, Fernando A. Poletta, L. Leigh Field, Judith M. Resick, Cathy C. Laurie, Figen Seymen, Mine Koruyucu, Azeez Butali, Andrew C. Lidral, Kimberly F. Doheny, Milliard Deribew, Deepti Jain, Eleanor Feingold, Juan C. Mereb, Jeffrey C. Murray, Beth Emanuele, Jennifer Jacobs

Publikováno v: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Leslie, E J, Liu, H, Carlson, J C, Shaffer, J R, Feingold, E, Wehby, G, Laurie, C A, Jain, D, Laurie, C C, Doheny, K F, McHenry, T, Resick, J, Sanchez, C, Jacobs, J, Emanuele, B, Vieira, A R, Neiswanger, K, Standley, J, Czeizel, A E, Deleyiannis, F, Christensen, K, Munger, R G, Lie, R T, Wilcox, A, Romitti, P A, Field, L L, Padilla, C D, Cutiongco-de la Paz, E M C, Lidral, A C, Valencia-Ramirez, L C, Lopez-Palacio, A M, Valencia, D R, Arcos-Burgos, M, Castilla, E E, Mereb, J C, Poletta, F A, Orioli, I M, Carvalho, F M, Hecht, J T, Blanton, S H, Buxó, C J, Butali, A, Mossey, P A, Adeyemo, W L, James, O, Braimah, R O, Aregbesola, B S, Eshete, M A, Deribew, M, Koruyucu, M, Seymen, F, Ma, L, de Salamanca, J E, Weinberg, S M, Moreno, L, Cornell, R A, Murray, J C & Marazita, M L 2016, ' A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3 ', American Journal of Human Genetics, vol. 98, no. 4, pp. 744-754 . https://doi.org/10.1016/j.ajhg.2016.02.014

Cleft palate (CP) is a common birth defect occurring in 1 in 2,500 live births. Approximately half of infants with CP have a syndromic form, exhibiting other physical and cognitive disabilities. The other half have nonsyndromic CP, and to date, few g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7467c71ba3adfcf20201b467fc5062b
https://hdl.handle.net/20.500.12530/27047

Family-based genome-wide association study in Patagonia confirms the association of the DMD locus and cleft lip and palate

Autor: Iêda M. Orioli, Eduardo E. Castilla, Joaquín Dopazo, Miguel A. M. Moreira, Héctor N. Seuánez, Renata F. Fonseca, Flávia M. de Carvalho, Alexandre R. Vieira, Juan C. Mereb, Fernando A. Poletta, David Montaner

Publikováno v: EUROPEAN JOURNAL OF ORAL SCIENCES
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
instname
r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)

The etiology of cleft lip with or without cleft palate (CL±P) is complex and heterogeneous, and multiple genetic and environmental factors are involved. Some candidate genes reported to be associated with oral clefts are located on the X chromosome.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f280bbc6027881b035a0974cbfbc6210
https://pubmed.ncbi.nlm.nih.gov/26331285