Research Article

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05/31/2017
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
12/23/2016
Alleles; Case-control studies; Female; Genetic predisposition to disease; Genotype; Humans; Methylenetetrahydrofolate Reductase (NADPH2); Odds Ratio; Polycystic ovary syndrome; Polymorphism, Single Nucleotide

Polycystic ovary syndrome is one of the most frequently encountered endocrine malfunctions. Methylenetetrahydrofolate reductase (MTHFR) plays a vital role in folate metabolism, DNA methylation, and RNA synthesis. We carried out a study to investigate the association between MTHFR C677T and A1298C genetic variations and the risk of polycystic ovary syndrome in a Chinese population. We recruited ... more

J.B. Wu; J.F. Zhai; J. Yang
2/16/2017
Adolescent; Antineoplastic Agents; Arsenic Trioxide; Arsenicals; Cerebellar Neoplasms; Child; Child, Preschool; Gene Expression Regulation, Neoplastic; Hedgehog Proteins; Humans; Infant; Medulloblastoma; Oxides; Signal transduction

Recent innovations in the genomic understanding of medulloblastomas have provided new ways to explore this highly invasive malignant brain cancer arising from the cerebellum. Among the four different medulloblastoma subgroups described to date, the sonic hedgehog (SHH) genetic pathway is the pathway activated in the tumorigenesis of medulloblastoma. SHH-related medulloblastomas are usually of ... more

P.H.S. Klinger; A.F. Andrade; L.E.A. Delsin; R.G.P. Queiroz; C.A. Scrideli; L.G. Tone; E.T. Valera
09/21/2017
Child; Female; Glycosaminoglycans; Humans; Iduronidase; male; Mexico; Mucopolysaccharidosis I

Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive lysosomal storage disorder caused by a deficiency or absence of α--iduronidase, which is involved in the catabolism of glycosaminoglycans (GAGs). This deficiency leads to the accumulation of GAGs in several organs. Given the wide spectrum of the disease, MPS-I has historically been classified into 3 clinical subtypes - severe ( ... more

A. Alonzo-Rojo; J.E. García-Ortiz; M. Ortiz-Aranda; M.P. Gallegos-Arreola; L.E. Figuera-Villanueva
08/17/2017
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
12/02/2016
Adult; Aged; Aged, 80 and over; Asian People; China; Chromosome aberrations; Chromosomes, Human; Female; Humans; Karyotyping; Lymphoma, Non-Hodgkin; male; Middle Aged; Young Adult

The incidence of non-Hodgkin lymphoma (NHL) in China is increasing and is attracting attention as a topic of research. The percentage of NHL cases in ethnic Uighur people is also gradually increasing. We therefore recruited Uighur people with NHL to investigate the correlation between genetic alternations and clinical/pathological features in an attempt to determine their clinical significance ... more

L. Xu; X.G. Zou; X. Wang; A.B.L.M.T. Hairesa; J.J. Liu
12/19/2016
Adult; Aged; Apoptosis; Bone neoplasms; Caspase 8; Cell proliferation; Cell survival; Female; Gene Expression Regulation, Neoplastic; Humans; male; Middle Aged; Osteochondroma; Osteosarcoma; TNF-Related Apoptosis-Inducing Ligand; Tumor Cells, Cultured; Young Adult

Osteosarcoma is a common malignant bone tumor that mainly affects children and adolescents. Tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) is a member of the tumor necrosis factor superfamily. Caspase-8 appears in the upstream of apoptosis signaling pathway among caspases. We investigated TRAIL and caspase-8 levels in osteosarcoma patients to determine their correlation with ... more

X. Ning; X.W. Shang; Y. Zhuang; M. Liu; H. Yang; H. Zhang; M.Z. Huang
2/16/2017
Adult; Aged; Aged, 80 and over; Arabs; Colorectal neoplasms; Exons; Female; Humans; male; Middle Aged; Mutation; Mutation Rate; Prognosis; Proto-Oncogene Proteins p21(ras); Retrospective Studies; Saudi Arabia; Survival analysis; Young Adult

Mutations in codons 12/13 of K-ras exon 2 are associated with reduced benefit from anti-epidermal growth factor receptor antibody treatment for metastatic colorectal cancer (CRC). Here, we evaluated the frequency of K-ras mutations and their relationship with clinicopathological features and treatment outcomes in Saudi Arabian patients with CRC. The genetic status of K-ras was determined in ... more

J. Zekri; A. Al-Shehri; M. Mahrous; S. Al-Rehaily; T. Darwish; S. Bassi; E. Taani; A. Zahrani; S. Elsamany; J. Al-Maghrabi; B.B. Sadiq
2/23/2017
Adult; Asian People; China; Female; Gene frequency; Genetic predisposition to disease; Genotype; Humans; Interleukin-10; Interleukin-6; Logistic Models; Odds Ratio; Polymerase chain reaction; Polymorphism, Restriction Fragment Length; Polymorphism, Single Nucleotide; Pre-eclampsia; Pregnancy; Promoter Regions, Genetic; Risk factors; Young Adult

Preeclampsia is a common condition unique to pregnant women. Previous studies have suggested that several cytokines may contribute to defective placental invasion and endothelial damage in this condition. We investigated the influence of four single nucleotide polymorphisms (SNPs) in the promoters of IL-6 (-572G/C, -597G/A, and -174G/C) and IL-10 (-592A/C) on susceptibility to preeclampsia in ... more

D.M. Fan; Y. Wang; X.L. Liu; A. Zhang; Q. Xu
2/23/2017
Adult; DNA, Viral; Female; Genotype; Hepatitis B Antibodies; Hepatitis B e Antigens; Hepatitis B Surface Antigens; Hepatitis B virus; Hepatitis B, Chronic; Host-Pathogen Interactions; Humans; male; Middle Aged; Polymerase chain reaction; Sequence Analysis, DNA; Virus Activation; Virus Replication; Young Adult

Concurrent detection of hepatitis B surface antigen (HBsAg) and anti-HBs antibody or hepatitis B surface E antigen (HBeAg) and anti-HBe antibody in patients with chronic hepatitis B (CHB) infection is well established. However, the clinical implications of these proteins remain largely unknown. In this study, demographic, clinical, and laboratory data from 124,865 patients with chronic CHB ... more

Y. Xiang; P. Chen; J.R. Xia; L.P. Zhang

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