Search Results - "LOURO, I. D"

SETD5 gene variant associated with mild intellectual disability - a case report by Stur, E, Soares, L A, Louro, I D

“…The recent advent of exome sequencing has allowed for the identification of pathogenic gene variants responsible for a variety of diseases that were previously…”
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Steroid metabolism gene polymorphisms and their implications on breast and ovarian cancer prognosis by Dos Santos, E V W, Alves, L N R, Louro, I D

“…A role for estrogen in the etiology of breast and ovarian cancers has been suggested; therefore, genetic polymorphisms in steroid metabolism genes could be…”
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Maternal polymorphisms in the FADS1 and FADS2 genes modify the association between PUFA ingestion and plasma concentrations of omega-3 polyunsaturated fatty acids by Carvalho, G.Q., Pereira-Santos, M., Marcon, L.D., Louro, I.D., Peluzio, M.C.G., Santos, D.B.

“…•Our results suggest a possible gene-nutrient interaction in maternal plasma concentrations of n−3 PUFAS.•In pregnant women, increased dietary intake of ALA…”
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Circulation and molecular characterization of Chikungunya virus (Togaviridae) reveals a new mutation (E2-N207D) in Espirito Santo, Brazil by Ventorim, DP, Rodrigues, FMGS, Vianna, LA, Dettogni, RS, dos Santos, EVW, Louro, ID, Oliveira-Silva, M

“…Chikungunya virus (CHIKV) is an RNA virus from the family Togaviridae transmitted primarily by Aedes mosquitoes. The first report of CHIKV infection in Brazil…”
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Comparative analysis of short tandem repeat data obtained by automated and gel electrophoresis techniques by Pagel, U R, Reis, R S, Carvalho, V P, Santos, E V W, Zandonade, E, Louro, I D, Paula, F

“…Short tandem repeats (STRs) are commonly used as genetic markers. The detection and analysis of STRs can be used to gather information on polymorphisms of…”
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Alcohol metabolizing gene polymorphisms and their relationship with oral cancer risk and clinicopathological features by Takamori, JT, Santos, M, Peterle, G T, Rossi, L, Curioni, O A, Gazito, D, Maia, L Maia, Louro, I D, de Oliveira, M de Oliveira, dos Santos, J G, Moyses, R A, Cury, P M, Toporcov, T N, Kanda, J L, da Silva, A M A, de Carvalho, M B

“…Oral cancer incidence is higher in individuals between the fifth and seventh decades of life, but some studies indicate a decreasing age trend. From the…”
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Protective effect of the APOE-e3 allele in Alzheimer's disease by de-Almada, B V P, de-Almeida, L D, Camporez, D, de-Moraes, M V D, Morelato, R L, Perrone, A M S, Belcavello, L, Louro, I D, de-Paula, F

“…Although several alleles of susceptibility to Alzheimer's disease (AD) have been studied in the last decades, few polymorphisms have been considered as risk…”
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HPRTYale proposed as a pathogenic variant for Lesch-Nyhan syndrome: a case report by Stur, E, Reis, R S, Agostini, L P, Silva-Conforti, A M A, Louro, I D

“…Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT), an enzyme encoded…”
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ΔF508 mutation screening of healthy individuals from two populations in Espírito Santo State, Brazil by Lanes, A M, Louro, L S, Ventorim, D P, Stur, E, Garcia, F M, Agostini, L P, Alves, L N R, Reis, R S, Louro, I D, Dettogni, R S

“…The ΔF508 mutation is the most common cause of cystic fibrosis and its prevalence varies worldwide. For instance, up to 20-fold variations in its frequency…”
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In vitro recovery and identification of Y-STR DNA from Chrysomya albiceps ( Diptera, Calliphoridae) larvae fed a decomposing mixture of human semen and ground beef by Chamoun, CA, Couri, MS, Louro, ID, Garrido, RG, Moura-Neto, RS, Oliveira-Costa, J

“…Worldwide, several women become victims of rape every day. Many of those women are also murdered, with their bodies sometimes being found in an advanced state…”
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Leptin receptor expression and Gln223Arg polymorphism as prognostic markers in oral and oropharyngeal cancer by Rodrigues, P R S, Maia, L L, Santos, M, Peterle, G T, Alves, L U, Takamori, J T, Souza, R P, Barbosa, W M, Mercante, A M C, Nunes, F D, Carvalho, M B, Tajara, E H, Louro, I D, Silva-Conforti, A M A

“…The leptin gene product is released into the blood stream, passes through the blood-brain barrier, and finds the leptin receptor (LEPR) in the central nervous…”
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DAP1 high expression increases risk of lymph node metastases in squamous cell carcinoma of the oral cavity by Santos, M, Maia, L L, Silva, C V M, Peterle, G T, Mercante, A M C, Nunes, F D, Carvalho, M B, Tajara, E H, Louro, I D, Silva-Conforti, A M A

“…Death-associated protein 1 (DAP1) is a member of the DAP family. Its expression is associated with cell growth and normal death of the neoplastic cells,…”
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Molecular epidemiology of HFE gene polymorphic variants (C282Y, H63D and S65C) in the population of Espírito Santo, Brazil by Alves, L N R, Santos, E V W, Stur, E, Silva Conforti, A M A, Louro, I D

“…Hereditary hemochromatosis (HH) is an autosomal recessive disorder that leads to progressive iron accumulation and may cause cirrhosis, hepatocellular…”
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Induction of KLF4 in basal keratinocytes blocks the proliferation-differentiation switch and initiates squamous epithelial dysplasia by FOSTER, K. Wade, ZHAOLI LIU, KUDLOW, Jeffrey E, LOBO-RUPPERT, Susan M, RUPPERT, J. Michael, NAIL, Clinton D, XINGNAN LI, FITZGERALD, Thomas J, BAILEY, Sarah K, FROST, Andra R, LOURO, Iuri D, TOWNES, Tim M, PATERSON, Andrew J

“…KLF4/GKLF normally functions in differentiating epithelial cells, but also acts as a transforming oncogene in vitro. To examine the role of this zinc finger…”
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FAS ligand expression in inflammatory infiltrate lymphoid cells as a prognostic marker in oral squamous cell carcinoma by Peterle, G T, Santos, M, Mendes, S O, Carvalho-Neto, P B, Maia, L L, Stur, E, Agostini, L P, Silva, C V M, Trivilin, L O, Nunes, F D, Carvalho, M B, Tajara, E H, Louro, I D, Silva-Conforti, A M A

“…Currently, the most important prognostic factor in oral squamous cell carcinoma (OSCC) is the presence of regional lymph node metastases, which correlates with…”
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Keratins 17 and 19 expression as prognostic markers in oral squamous cell carcinoma by Coelho, B A, Peterle, G T, Santos, M, Agostini, L P, Maia, L L, Stur, E, Silva, C V M, Mendes, S O, Almança, C C J, Freitas, F V, Borçoi, A R, Archanjo, A B, Mercante, A M C, Nunes, F D, Carvalho, M B, Tajara, E H, Louro, I D, Silva-Conforti, A M A

“…Five-year survival rates for oral squamous cell carcinoma (OSCC) are 30% and the mortality rate is 50%. Immunohistochemistry panels are used to evaluate…”
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Prognostic significance of head and neck squamous cell carcinoma repair gene polymorphism by Stur, E, Agostini, L P, Garcia, F M, Peterle, G T, Maia, L L, Mendes, S O, Anders, Q S, Reis, R S, Santos, J A, Ventorim, D P, Carvalho, M B, Tajara, E H, Santos, M, Paula, F, Silva-Conforti, A M A, Louro, I D

“…The aims of this study were to analyze the polymorphisms XRCC1 Arg194Trp, XRCC1 Arg399Gln, XRCC3 Thr241Met, XPC Lys939Gln, ERCC1 Asn118Asn, and RAD51 -98G>C…”
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MTHFR C677T and A1298C polymorphisms as predictors of radiotherapy response in head and neck squamous cell carcinoma by Anders, Q S, Stur, E, Agostini, L P, Garcia, F M, Reis, R S, Santos, J A, Mendes, S O, Maia, L L, Peterle, G T, Stange, V, Carvalho, M B, Tajara, E H, Santos, M, Silva-Conforti, A M A, Louro, I D

“…The C677T and A1298C polymorphisms in methylene-tetrahydrofolate reductase (MTHFR), which regulates the release of active folate in the body, may have reduced…”
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Analysis of microsatellite instability and loss of heterozygosity in ovarian cancer: a study in the population of Espírito Santo, Brazil by Alves, L N R, Wolfgramm, E V, de Castro Neto, A K, Louro, I D

“…Ovarian cancer is currently the most lethal gynecological malignancy in women. It is a heterogeneous and cytogenetically complex disease previously associated…”
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Variable expressivity of osteogenesis imperfecta in a Brazilian family due to p.G1079S mutation in the COL1A1 gene by Moraes, M V D, Milanez, M, Almada, B V P, Sipolatti, V, Rebouças, M R G O, Nunes, V R R, Akel, Jr, A N, Zatz, M, Errera, F I V, Louro, I D, Paula, F

“…Osteogenesis imperfecta (OI) is a Mendelian disease with genetic heterogeneity characterized by bone fragility, recurrent fractures, blue sclerae, and short…”
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