Search Results - "Faucz, F."

Functional screen analysis reveals miR-26b and miR-128 as central regulators of pituitary somatomammotrophic tumor growth through activation of the PTEN–AKT pathway by Palumbo, T, Faucz, F R, Azevedo, M, Xekouki, P, Iliopoulos, D, Stratakis, C A

“…MicroRNAs (miRNAs) have been involved in the pathogenesis of different types of cancer; however, their function in pituitary tumorigenesis remains poorly…”
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Age-dependent effects of Armc5 haploinsufficiency on adrenocortical function by Berthon, A, Faucz, F R, Espiard, S, Drougat, L, Bertherat, J, Stratakis, C A

“…Inactivating mutations in the Armadillo repeat-containing 5 (ARMC5) gene have recently been discovered in primary macronodular adrenal hyperplasia (PMAH), a…”
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Spatial Multi-omics Reveals the Role of the Wnt Modulator, Dkk2, in Palatogenesis by Piña, J O, Raju, R, Roth, D M, Winchester, E W, Padilla, C, Iben, J, Faucz, F R, Cotney, J L, D'Souza, R N

“…Multiple genetic and environmental etiologies contribute to the pathogenesis of cleft palate, which is the most common of the inherited disorders of the…”
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Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling by Souza, D. A. S., Faucz, F. R., Pereira‐Ferrari, L., Sotomaior, V. S., Raskin, S.

“…Summary Congenital bilateral absence of the vas deferens (CBAVD) is found in 1% to 2% of males with infertility and is present in 6% of obstructive azoospermia…”
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Variations in maternal adenylate cyclase genes are associated with congenital Zika syndrome in a cohort from Northeast, Brazil by Rossi, Á. D., Faucz, F. R., Melo, A., Pezzuto, P., Azevedo, G. S., Schamber‐Reis, B. L. F., Tavares, J. S., Mattapallil, J. J., Tanuri, A., Aguiar, R. S., Cardoso, C. C., Stratakis, C. A.

“…Background Vertical transmission of Zika virus (ZIKV) is associated with congenital malformations but the mechanism of pathogenesis remains unclear. Although…”
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SDH Subunit Mutation Status in Saliva: Genetic Testing in Patients with Pheochromocytoma by Osinga, T E, Xekouki, P, Nambuba, J, Faucz, F R, de la Luz Sierra, M, Links, T P, Kema, I P, Adams, K, Stratakis, C A, van der Horst-Schrivers, A N A, Pacak, K

“…Germline mutations occur in up to 30-40% of pheochromocytoma/paraganglioma, with mutations in the succinate dehydrogenase (SDH) subunits B (SDHB) and D (SDHD)…”
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Cystic fibrosis in Afro-Brazilians: XK haplotypes analysis supports the European origin of p.F508del mutation by de Souza, D. A. S., Faucz, F. R., de Alexandre, R. B., Santana, M. A., de Souza, E. L. S., Reis, F. J. C., Pereira-Ferrari, L., Sotomaior, V. S., Culpi, L., Phillips, J. A., Raskin, S.

“…Cystic fibrosis (CF) is a common autosomal recessive disorder, being the p.F508del the most frequent mutation. Also, a nearby restriction fragment length…”
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Integrity of the pheochromocytoma susceptibility TMEM127 gene in patients with pediatric malignancies by King, E E, Qin, Y, Toledo, R A, Luo, A, Ball, E, Faucz, F R, Janeway, K A, Stratakis, C A, Tomlinson, G E, Dahia, P L M

“…Germline mutations of the tumor suppressor gene TMEM127 occur in the neural-crest-derived tumors, pheochromocytomas and paragangliomas (Qin et al. 2010, Yao et…”
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Expression of Pancreatic Endocrine Markers by Mesenchymal Stem Cells From Human Umbilical Cord Vein by Santos, T.M, Percegona, L.S, González, P, Calil, A, Corradi Perini, C, Faucz, F.R, Câmara, N.O.S, Aita, C.A.M

“…Abstract Background Mesenchymal stem cells (MSCs) from human umbilical cord vein have great potential for use in cell therapy because of their ease of…”
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Cystic fibrosis in a southern Brazilian population: characteristics of 90% of the alleles by Faucz, FR, Gimenez, J, Ramos, MD, Pereira-Ferrari, L, Estivill, X, Raskin, S, Casals, T, Culpi, L

“…Cystic fibrosis (CF) is a genetic disease that frequently leads to death in infancy among Europeans and their descendants. The goals of the present study were…”
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Cystic Fibrosis Gene Variability in Two Southern Brazilian Amerindian Populations: Analysis of the ΔF508 Mutation and the KM19 and XV2C Haplotypes by Raskin, S., Petzl-Erler, M. L., Phillips, J. A., Pereira-Ferrari, L., Probst, C. M., Faucz, F. R., Sotomaior, V., Salzano, F. M., Culpi, L.

“…The frequencies of the ΔF508 deletion, the most common cystic fibrosis mutation in Europeans and European-derived populations, and the XV2C and KM19…”
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Cystic Fibrosis Gene Variability in Two Southern Brazilian Amerindian Populations: Analysis of the ∆F508 Mutation and the KM19 and XV2C Haplotypes by RASKIN, S., PETZL-ERLER, M. L., PHILLIPS, J. A., PEREIRA-FERRARI, L., PROBST, C. M., FAUCZ, F. R., SOTOMAIOR, V., SALZANO, F. M., CULPI, L.

“…The frequencies of the AF508 deletion, the most common cystic fibrosis mutation in Europeans and European-derived populations, and the XV2C and KM 19…”
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Age-dependent effects of Armc5 haploinsufficiency on adrenocortical function by Berthon, A., Faucz, F.R., Espiard, S., Drougat, L., Bertherat, J., Stratakis, C.A.

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HLA-DQA1 and HLA-DQB1 Alleles and Haplotypes in Two Brazilian Indian Tribes: Evidence of Conservative Evolution of HLA-DQ by SOTOMAIOR, V.S., FAUCZ, F.R., SCHAFHAUSER, C., JANZEN-DÜCK, M., BOLDT, A.B.W., PETZL-ERLER, M.L.

“…Nucleotide sequence polymorphism of the HLA-DQA1 and HLA-DQB1 class II genes was analyzed in the Kaingang and Guarani Amerindians from southern Brazil using…”
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Armc5 : un régulateur potentiel de l’acétylation dans les cellules corticosurrénaliennes grâce à Sirt1 by Berthon, A., Faucz, F., Feldman, B., Drougat, L., Espiard, S., Cavalcante, I., Ragazzon, B., Bertherat, J., Stratakis, C.

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Vers une explication développementale de l’origine des lésions cutanées dans le complexe de Carney by Sahut Barnola, I., Lefrancois-Martinez, A.M., Kamilaris, C., Rueda-Faucz, F., Stratakis, C., Val, P., Martinez, A.

“…Le complexe de Carney (CNC) est un syndrome multi-néoplasique rare de prédisposition à diverses tumeurs endocrines et non-endocrines. La manifestation clinique…”
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Polymorphism of LMP2, TAP1, LMP7 and TAP2 in Brazilian Amerindians and Caucasoids: implications for the evolution of allelic and haplotypic diversity by Rueda Faucz, F., Macagnan Probst, C., Petzl-Erler, M. L.

“…In the class II region of the major histocompatibility complex (MHC), four genes implicated in processing of MHC class I‐presented antigens have been…”
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PDE11A gène modulateur de l’hyperplasie macronodulaire primitive bilatérale des surrénales (HMBS) : Séquençage nouvelle génération (NGS) chez 354 patients by Vaduva, P., Vaczlavik, A., Bouys, L., Neou, M., Septier, A., Heurtier, V., Cavalcante, I., Libe, R., Faucz, F., Giannone, G., Kroiss, M., Borson-Chazot, F., Chanson, P., Tabarin, A., Vantyghem, M.C., Assie, G., Stratakis, C., Fragoso, M.C., Ragazzon, B., Bertherat, J.

“…L’hyperplasie macronodulaire primitive bilatérale des surrénales (HMBS), cause la plus fréquente de syndrome de Cushing d’origine périphérique par atteinte…”
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X-linked acrogigantism syndrome: clinical profile and therapeutic responses by Beckers, Albert, Lodish, Maya Beth, Trivellin, Giampaolo, Rostomyan, Liliya, Lee, Misu, Faucz, Fabio R, Yuan, Bo, Choong, Catherine S, Caberg, Jean-Hubert, Verrua, Elisa, Naves, Luciana Ansaneli, Cheetham, Tim D, Young, Jacques, Lysy, Philippe A, Petrossians, Patrick, Cotterill, Andrew, Shah, Nalini Samir, Metzger, Daniel, Castermans, Emilie, Ambrosio, Maria Rosaria, Villa, Chiara, Strebkova, Natalia, Mazerkina, Nadia, Gaillard, Stéphan, Barra, Gustavo Barcelos, Casulari, Luis Augusto, Neggers, Sebastian J, Salvatori, Roberto, Jaffrain-Rea, Marie-Lise, Zacharin, Margaret, Santamaria, Beatriz Lecumberri, Zacharieva, Sabina, Lim, Ee Mun, Mantovani, Giovanna, Zatelli, Maria Chaira, Collins, Michael T, Bonneville, Jean-François, Quezado, Martha, Chittiboina, Prashant, Oldfield, Edward H, Bours, Vincent, Liu, Pengfei, de Herder, Wouter W, Pellegata, Natalia, Lupski, James R, Daly, Adrian F, Stratakis, Constantine A

“…X-linked acrogigantism (X-LAG) is a new syndrome of pituitary gigantism, caused by microduplications on chromosome Xq26.3, encompassing the gene GPR101, which…”
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Gigantism and Acromegaly Due to Xq26 Microduplications and GPR101 Mutation by TRIVELLIN, G, DALY, A. F, CASTERMANS, E, VILLA, C, DIMOPOULOS, A, CHITTIBOINA, P, XEKOUKI, P, SHAH, N, METZGER, D, LYSY, P. A, FERRANTE, E, STREBKOVA, N, FAUCZ, F. R, MAZERKINA, N, ZATELLI, M. C, LODISH, M, HORVATH, A, BERTOLLO DE ALEXANDRE, R, MANNING, A. D, LEVY, I, KEIL, M. F, DE LA LUZ SIERRA, M, PALMEIRA, L, YUAN, B, COPPIETERS, W, GEORGES, M, NAVES, L. A, JAMAR, M, BOURS, V, WU, T. J, CHOONG, C. S, BERTHERAT, J, CHANSON, P, KAMENICKY, P, ROSTOMYAN, L, FARRELL, W. E, BARLIER, A, QUEZADO, M, BJELOBABA, I, STOJILKOVIC, S. S, WESS, J, COSTANZI, S, LIU, P, LUPSKI, J. R, BECKERS, A, LARCO, D. O, STRATAKIS, C. A, SCHERNTHANER-REITER, M. H, SZAREK, E, LEAL, L. F, CABERG, J.-H

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