Research Article

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Adolescent; Case-control studies; Child; Child, Preschool; Drug Resistant Epilepsy; Epilepsies, Myoclonic; Female; Humans; Infant; male; Mutation, Missense; NAV1.1 Voltage-Gated Sodium Channel; Polymorphism, Single Nucleotide

Mutations in the SCN1A gene can result in syndromes associated with epilepsy, including the Dravet syndrome (DS). However, the prevalence of such mutations in these diseases varies widely between different studies, and has not been examined in Mexican patients with epilepsy. Therefore, the objective of this study was to determine the frequency of SCN1A mutations (in the exon 26) in a cohort of ... more

R.E. Jiménez-Arredondo; A.J.L. Brambila-Tapia; F.M. Mercado-Silva; M.T. Magaña-Torres; L.E. Figuera
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This study searched a rare and aggressive type of cancer in dogs and humans, the breast carcinosarcoma. Both clinical and pathological traits of mammary carcinosarcomas in dogs are similar to humans, such as infrequent occurrence, fast tumor growth, and unfavorable prognosis when compared to carcinomas. Other possible alterations include chromosomal abnormalities that can be useful for the ... more

C.S.D. Morais; P.R.A.M. Affonso; J.A. Bitencourt; A.A. Wenceslau
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Adult; Brazil; Case-control studies; Female; Hepatitis B, Chronic; HLA-DP beta-Chains; HLA-DQ Antigens; Humans; male; Middle Aged; Polymorphism, Single Nucleotide

Hepatitis B virus (HBV) infection is a serious public health problem worldwide. The progression of the disease depends on several host and viral factors and may result in fulminant hepatitis (very rare), acute hepatitis with spontaneous clearance, and chronic hepatitis B infection. Previous studies demonstrated that variations in the human leukocyte antigen (HLA) class II (HLA-DPB1 and HLA- ... more

V.R.Z.B. Pereira; J.M. Wolf; G.Z. Stumm; T.R. Boeira; J. Galvan; D. Simon; V.R. Lunge
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Adult; Female; Glucuronides; Glucuronosyltransferase; Graft Rejection; Humans; Kidney transplantation; male; Middle Aged; Mycophenolic Acid; Polymorphism, Single Nucleotide; UDP-Glucuronosyltransferase 1A9

Mycophenolate mofetil (MMF) is a prodrug active only after its hydrolysis to mycophenolic acid (MPA). The UGT1A9 enzyme is of special interest since it is the main enzyme involved in the glucuronidation of MPA. Single nucleotide polymorphisms (SNPs) in the UGT1A9 gene may be responsible for individual differences in the pharmacokinetics of MMF. Expression levels and the activity of UGT1A9 may ... more

L.R. Ruschel; V.M. Schmitt; A.B. Silva; C.S.A. Oliveira; K. Flach; D.O. d'Avila; F.V. Thiesen
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Aged; Case-control studies; China; Endothelin-1; Female; Gene frequency; Humans; Hypertension; male; Middle Aged; Mutation, Missense; Polymorphism, Single Nucleotide

Endothelin-1 (ET-1) is the most potent endogenous vasoconstrictor and is involved in several vascular disorders such as hypertension. Its strong interaction with other vasoactive hormone systems suggests that the ET-1 gene (EDN1) is a potential candidate molecule that influences the risk of developing hypertension. Recently, two single nucleotide polymorphisms in EDN1 have been reported to be ... more

Z. Fang; M. Li; Z. Ma; G. Tu
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Adolescent; Adult; Case-control studies; Child; Child, Preschool; Down syndrome; Female; Humans; Infant; Interleukin-6; male; Polymorphism, Single Nucleotide

Down syndrome (DS) individuals present impaired adaptive immune system. However, the etiology of the immunological deficiency in these individuals is not completely understood. This study investigated the frequency of interleukin 6 polymorphisms (rs1800795, rs1800796, and rs1800797) in individuals with DS and individuals without the syndrome. The study included 282 individuals, 94 with DS ... more

M.F. Mattos; L. Uback; P.M. Biselli-Chicote; J.M. Biselli; E.M. Goloni-Bertollo; E.C. Pavarino
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Adolescent; Adult; Aged; Aged, 80 and over; Contraceptives, Oral; Female; Glutathione S-Transferase pi; Humans; Middle Aged; Papillomavirus Infections; Polymorphism, Single Nucleotide; Squamous Intraepithelial Lesions of the Cervix

Human papillomavirus (HPV) infection is considered a risk factor for cervical cancer. Even if the high-risk HPV (HR-HPV) infection is necessary, environmental co-factors and genetic susceptibility also play an important role in cervical cancer development. In this study, a possible association of rs1695 GSTP1 polymorphisms, HR-HPV infection, and oral contraceptive use with cancer lesion ... more

B.S. Chagas; A.P.A.D. Gurgel; S.S.L.Paiva Júnior; R.C.P. Lima; M.N. Cordeiro; R.R. Moura; A.V.C. Coelho; K.C.G. Nascimento; J.C.Silva Neto; S. Crovella; A.C. Freitas
8/31/2017
Adult; Case-control studies; Female; Humans; Interleukin-17; Middle Aged; Polymorphism, Single Nucleotide; Uterine cervical neoplasms

Cervical cancer is a serious public health problem and is associated with high cancer-related mortality in females worldwide. The expression of IL17A can increase the migration and invasiveness of cervical cancer cells by activating the NF-κB signal pathway. Single-nucleotide polymorphisms (SNPs) can alter gene function and protein expression. We examined the association between two IL17A SNPs ... more

A.Q. Niu; Y.H. Cao; H. Wang; X. Zhang; B. Zhu; Z.H. Li
8/31/2017
Alveolar Epithelial Cells; Animals; CD11b Antigen; Female; male; Mice; Mice, Inbred C57BL; Pulmonary Surfactant-Associated Proteins; Respiratory Insufficiency

As a β2 integrin family member, Mac-1 plays an important role in the inflammatory response. Inflammation and lung injury are closely associated, but the involvement of Mac-1 in the occurrence and development of such pathologies remains poorly understood. We aimed to investigate the relationship between Mac-1 deficiency and respiratory failure in Mac-1 knockout {Mac-1} mice, using C57BL/6J mice ... more

J. Wang; Y.B. Ci; C.L. Liu; H.M. Sun
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Animals; Chromosomes; Female; Genotype; Hybridization, Genetic; Karyotype; Liver; male; Microsatellite Repeats; Polymorphism, Genetic; Quantitative Trait, Heritable; Transcriptome; Turtles

Chinese soft-shelled turtle Pelodiscus sinensis has been an important aquaculture species in Southeast Asian countries. To breed a new variety of soft-shelled turtle with excellent properties and to evaluate the effect of hybridization of two turtle strains with a highly different trait phenotype, inheritance, microsatellite loci, and transcriptome analysis were studied in the hybrid turtles ... more

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