miRNA Genetic Variants Alter Their Secondary Structure and Expression in Patients With RASopathies Syndromes

Autor: Joseane Biso de Carvalho, Guilherme Loss de Morais, Thays Cristine dos Santos Vieira, Natana Chaves Rabelo, Juan Clinton Llerena, Sayonara Maria de Carvalho Gonzalez, Ana Tereza Ribeiro de Vasconcelos

Publikováno v: Frontiers in Genetics, Vol 10 (2019)

RASopathies are a group of rare genetic diseases caused by germline mutations in genes involved in the RAS–mitogen-activated protein kinase (RAS-MAPK) pathway. Whole-exome sequencing (WES) is a powerful approach for identifying new variants in codi

Externí odkaz: https://doaj.org/article/c28b9dd6ffd34555a95fe4c50f5795c6

Genetic Variants in Folate and Cobalamin Metabolism-Related Genes in Nonsyndromic Cleft Lip and/or Palate

Autor: Patricia Nivoloni Tannure, Marcia Regina Waltrick-Zambuzzi, José Mauro Granjeiro, Erika Calvano Küchler, Leonardo Santos Antunes, Willian Fernando Zambuzzi, Thays Cristine dos Santos Vieira, Fábio Lourenço Romano

Publikováno v: Brazilian Dental Journal v.26 n.6 2015
Brazilian Dental Journal
Fundação Odontológica de Ribeirão Preto (FUNORP)
instacron:FUNORP
Scopus
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP
Brazilian Dental Journal, Volume: 26, Issue: 6, Pages: 561-565, Published: DEC 2015

The aim of this study was to evaluate the association of the polymorphisms in TCN2 (rs1801198) gene and in MTRR (rs1801394) gene with nonsyndromic cleft lip and/or palate (NSCL/P) in a Brazilian population. Genomic DNA was extracted from buccal cells

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00527c40da87dfe9543d5d93d7f55d2c
https://doi.org/10.1590/0103-6440201300394

Polymorphisms in BMP4 and FGFR1 genes are associated with fracture non-union

Autor: João Antonio Matheus Guimarães, Verônica Fernandes Vianna, Alexandre R. Vieira, Marco Bernardo Cury Fernandes, Thays Cristine dos Santos Vieira, Priscila Ladeira Casado, Isabel Cristina Chulvis do Val Guimarães, Maria Eugenia Leite Duarte

Publikováno v: Journal of Orthopaedic Research. 31:1971-1979

Fracture healing is a complex process influenced by a multitude of factors and expression of several thousand genes. Polymorphisms in these genes can lead to an extended healing process and explain why certain patients are more susceptible to develop

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7d3fadcd343256d243a9d90cff4715d2
https://doi.org/10.1002/jor.22455

Studies of genes involved in craniofacial development and tumorigenesis: FGF3 contributes to isolated oral clefts and may interact with PAX9

Autor: Maria Fernanda Reis, Marcelo de Castro Costa, Ticiana Medeiros de Sabóia, Alexandre R. Vieira, Patricia Nivoloni Tannure, Bao Ho, José Mauro Granjeiro, Kathleen Deeley, Ana Cristina Rey, Thays Cristine dos Santos Vieira, Erika Calvano Küchler, Andrea Lips

Publikováno v: Acta odontologica Scandinavica. 72(8)

Previous studies suggest individuals born with oral clefts and their families have a higher susceptibility for cancer, which raises the hypothesis that these two conditions share common molecular pathways. This study evaluated the association between

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4c244f6544dd75ad7e201349971fe89
https://pubmed.ncbi.nlm.nih.gov/24697712

Role of TRAV locus in low caries experience

Autor: Carla A. Brandon, Juan C. Mereb, Eduardo E. Castilla, Fernando A. Poletta, Giovana Daniela Pecharki, Mary L. Marazita, Judith M. Resick, Ariadne Letra, Alexandre R. Vieira, Takehiko Shimizu, Thays Cristine dos Santos Vieira, Jessica Briseño-Ruiz, Margaret E. Cooper, Italo M. Faraco, Asli Patir, Kathleen Deeley, Marcelo de Castro Costa, Piper M. Dizak, Timothy D. Ruff, Erika Calvano Küchler, Iêda M. Orioli, Patricia Nivoloni Tannure, Andrea Lips, João Armando Brancher, Mine Koruyucu, Figen Seymen, Paula Cristina Trevilatto, Renato Menezes Silva, José Mauro Granjeiro

Caries is the most common chronic, multifactorial disease in the world today; and little is still known about the genetic factors influencing susceptibility. Our previous genome-wide linkage scan has identified five loci related to caries susceptibil

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aff6735bd337d328ac0a4bd748a44cc2
https://hdl.handle.net/20.500.12511/2624