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Genetic Testing and Molecular Biomarkers

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https://www.readbyqxmd.com/read/28430524/mirna-related-polymorphisms-in-mir-423-rs6505162-and-pex6-rs1129186-and-risk-of-esophageal-squamous-cell-carcinoma-in-an-iranian-cohort
#1
Ziba Nariman-Saleh-Fam, Milad Bastami, Mohammad Hossein Somi, Farkhondeh Behjati, Yaser Mansoori, Abdolreza Daraei, Zahra Saadatian, Lida Nariman-Saleh-Fam, Habibollah Mahmoodzadeh, Yashar Makhdoumi, Fatemeh Varshoee Tabrizi, Bahador Ebrahimi-Sharif, Azam Hezarian, Shahnaz Naghashi, Mohammad Reza Abbaszadegan, Javad Tavakkoly-Bazzaz
AIMS: Iran is located in the Asian esophageal cancer belt. It is a high-risk region for esophageal squamous cell carcinoma (ESCC). The extent to which genetic components, especially variants within miRNAs or their binding sites, contribute to risk of ESCC in the region is not yet fully understood. Herein, tests were done on an Iranian cohort to evaluate the association of miRNA-related polymorphisms in miR-423 (rs6505162) and peroxisomal biogenesis factor 6 (PEX6) (rs1129186 within a miR-149-5p-binding site) with risk of ESCC risk...
April 21, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28426234/the-otogl-p-arg925-variant-is-associated-with-moderate-hearing-loss-in-a-syrian-nonconsanguineous-family
#2
Rana Barake, Samer Abou-Rizk, Georges Nemer, Marc Bassim
AIMS: To screen for the genetic basis of congenital hearing loss in a Syrian family. METHODS: A Syrian patient living in Lebanon presented with moderate congenital hearing loss. The patient's large nonconsanguineous family was recruited. DNA was extracted from blood samples and sent for whole-exome sequencing. A detailed clinical examination along with audiograms was obtained for all subjects. RESULTS: Hearing loss was noted to be mild to moderate in the low and mid frequencies, sloping to moderate to severe in the high frequencies for all affected members...
April 20, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28422522/molecular-genetic-characterization-of-a-chinese-family-with-severe-split-hand-foot-malformation
#3
Lihua Cao, Wei Yang, Shusen Wang, Chen Chen, Xue Zhang, Yang Luo
AIMS: Split hand/foot malformation (SHFM) is a congenital limb malformation characterized by underdeveloped or absent central digital rays, clefts of the hands and feet, and variable syndactyly of the remaining digits. SHFM is a genetically heterogeneous disease; the aim of this study was to identify pathogenic variations in a Chinese family with SHFM. MATERIALS AND METHODS: Haplotype analyses with microsatellite markers covering the five SHFM loci were performed to localize the causative locus...
April 19, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28410456/use-of-bone-morphogenetic-protein-15-polymorphisms-to-predict-ovarian-stimulation-outcomes-in-infertile-brazilian-women
#4
Carla Peluso, Cecilia Goldman, Viviane Cavalcanti, Guilherme Gastaldo, Camila Martins Trevisan, Denise Maria Christofolini, Caio Parente Barbosa, Bianca Bianco
AIMS: Polymorphisms in the gene encoding bone morphogenetic protein 15 (BMP15) can result in inhibited secretion or lowered bioactivity of the BMP15 protein. BMP15 levels are associated with follicle-stimulating hormone receptor (FSHR) action on granulosa cells, wherein FSHR increases the sensitivity of ovarian follicles to follicle-stimulating hormone (FSH). In this study we evaluated the BMP15 polymorphisms A905 > G/rs3897937, C901 > T/rs17003221, and C-9 > G/rs3810682 in infertile Brazilian women in terms of anti-Mullerian hormone (AMH), FSH, and estradiol serum levels, as well as controlled ovarian hyperstimulation response and assisted reproduction outcomes...
April 14, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28409662/association-of-endothelial-nitric-oxide-synthase-gene-polymorphism-with-susceptibility-and-nephritis-development-of-henoch-sch%C3%A3-nlein-purpura-in-chinese-han-children
#5
Ailing Wang, Aili Wang, Yanfeng Xiao, Jingjing Wang, Erdi Xu
OBJECTIVE: Henoch-Schönlein purpura (HSP) is the most common form of systemic small-vessel vasculitis in children. Previous studies suggested endothelial nitric oxide synthase (eNOS) plays an important role in the pathogenesis and clinical manifestations of HSP. This study aimed to investigate the potential association between 10 single-nucleotide polymorphisms (SNPs) within eNOS gene and HSP risk and nephritis development in a Chinese Han population. MATERIALS AND METHODS: A case-control study was conducted including 459 healthy children and 423 children with HSP...
April 14, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28409654/olr1-and-loxin-expression-in-pbmcs-of-women-with-a-history-of-unexplained-recurrent-miscarriage-a-pilot-study
#6
Valentina Bruno, Barbara Rizzacasa, Adalgisa Pietropolli, Maria Vittoria Capogna, Renato Massoud, Carlo Ticconi, Emilio Piccione, Claudio Cortese, Giuseppe Novelli, Francesca Amati
AIMS: The aim of this study was to evaluate the expression of OLR1 and its alternative splicing isoform Loxin in unexplained recurrent miscarriage (uRM). METHODS: Sixty-three women of reproductive age were recruited and were divided into four groups: 18 pregnant and 23 non-pregnant women with uRM, and 12 pregnant and 10 non-pregnant women with physiological pregnancies. Complementary DNA derived from peripheral blood mononuclear cells (PBMCs) was analyzed by quantitative real-time PCR to evaluate the expression of OLR1 and Loxin...
April 14, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28402684/a-nonsense-alms1-mutation-underlies-alstr%C3%A3-m-syndrome-in-an-extended-mennonite-kindred-settled-in-north-mexico
#7
Marisa Cruz-Aguilar, Carlos Galaviz-Hernández, José Hiebert-Froese, Martha Sosa-Macías, Juan Carlos Zenteno
AIM: Alström syndrome (AS) is a rare autosomal recessive multisystem disease caused by biallelic mutations in ALMS1, a gene encoding a widely expressed centrosomal/basal body protein. Although more than 200 pathogenic mutations in ALMS1 have been identified to date in AS patients from various ethnic populations, there are very few reports of ALMS1 founder mutations in isolated populations. Our aim was to describe the molecular characterization of an isolate of AS patients from an extended inbred Mennonite kindred settled in Mexico...
April 12, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28394184/clinical-and-molecular-characterization-of-infantile-onset-pompe-disease-in-mainland-chinese-patients-identification-of-two-common-mutations
#8
Xi Chen, Tingliang Liu, Meirong Huang, Jinjin Wu, Junxue Zhu, Ying Guo, Xinyi Xu, Fen Li, Jian Wang, Lijun Fu
AIMS: We sought to understand the clinical course and molecular defects of infantile-onset Pompe disease (IOPD) among mainland Chinese patients. MATERIALS AND METHODS: Twenty-five Chinese patients with IOPD were enrolled and clinical data were retrospectively reviewed. The entire coding region of the GAA gene was amplified by polymerase chain reaction and analyzed by direct sequencing. RESULTS: The median age at symptom onset was 3.4 months (range: 1...
April 10, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28346832/tcf21-rs12190287-polymorphisms-are-associated-with-ventricular-septal-defects-in-a-chinese-population
#9
Liping Yang, Xiaobo Gao, Haiyan Luo, Qiuyu Huang, Dongmei Su, Xinyu Tan, Cailing Lu
AIMS: TCF21 knockout mice display cardiac defects, including ventricular septal defects (VSDs). Functional rs12190287 polymorphisms located within the 3' untranslated region (3'-UTR) of TCF21 were associated with a risk of coronary heart disease in the European and Eastern populations. However, whether rs12190287 polymorphisms in the TCF21-3'UTR confer predisposition to congenital heart disease (CHD) is unclear. METHODS: A case-control study was designed consisting of 781 nonsyndromic VSD patients and 867 non-CHD control subjects...
March 27, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28346829/polymorphisms-in-the-glucocorticoid-receptor-gene-and-associations-with-glucocorticoid-induced-avascular-osteonecrosis-of-the-femoral-head
#10
Zhanqin Zhao, Yun Xue, Dun Hong, Hongjun Zhang, Zhigang Hu, Shunwu Fan, Haixiao Chen
AIMS: Individual sensitivity to glucocorticoid (GC) therapy might play a pivotal role in the development of GC-induced avascular necrosis of the femoral head (GANFH). In a growing number of studies, common polymorphisms of the glucocorticoid receptor gene (nuclear receptor subfamily 3 group C member 1 [NR3C1]) have been associated with variability in the individual sensitivity to GCs. However, whether the NR3C1 gene polymorphisms actually influence the susceptibility of GANFH remains unknown...
March 27, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28287835/single-nucleotide-polymorphisms-in-the-ptpn1-gene-are-associated-with-susceptibility-to-esophageal-squamous-cell-carcinoma-a-case-control-study-in-inner-mongolia-china
#11
Hong-Bo Ji, Le-Le Wang, Xiao-Ying Wang, Sheng-Jie Yin, Di Shang, Li-Li Sun, Lei Wang
OBJECTIVE: This case-control study investigated the association of single nucleotide polymorphisms in the PTPN1 gene with susceptibility to esophageal squamous cell carcinoma (ESCC) in Inner Mongolia, China. METHODS: A total of 302 patients living in Inner Mongolia China who were pathologically diagnosed with ESCC between April 2012 and 2016 were selected for the ESCC group; 373 healthy individuals were selected for the control group. The rs2904268 C>G, rs2230605 A>G, and rs16995309 C>T polymorphisms in the PTPN1 gene were detected by bidirectional polymerase chain reaction amplification of specific alleles...
March 13, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28282224/genetic-polymorphism-of-drug-metabolizing-enzymes-cyp2c9-and-cyp2c19-in-moroccan-population
#12
Driss Afilal, Mohamed Amine Basselam, Zahra Brakez, Said Chouham, António Brehm, El Hassan Izaabel
BACKGROUND: The polymorphic cytochrome P450 isoenzymes CYP2C9 and CYP2C19 are involved in the biotransformation of a wide variety of clinical drugs. Their major alleles occur with varying frequencies among different populations worldwide and have been associated with a varied capacity to degrade important therapeutic agents. This gives rise to important individual and interethnic variability in the metabolism and may be the cause for different clinical responses regarding drug administration...
March 10, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28281786/susceptiveness-of-vitamin-k-epoxide-reductase-complex-subunit-1-gene-polymorphism-in-essential-hypertension
#13
Didem Turgut Cosan, Huseyin Ugur Yazıcı, Emine Colak, Ahu Soyocak, Irfan Degirmenci, Hulyam Kurt, Alparslan Birdane, Ertugrul Colak, Hasan Veysi Gunes
BACKGROUND: Essential hypertension (EH) is defined as worldwide public health problem and one of the important risk factors for development of human coronary artery disease. Increased peripheral arterial resistance is one of the distinguishing characteristics of EH. The extracellular deposition of calcium in the arterial wall is defined as vascular calcification, which results in aortic stiffness and elevation of blood pressure. Regulation of vascular calcification is physiologically limited by γ-carboxylated proteins that regulate mineralization...
March 10, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28281779/molecular-analysis-of-twelve-pakistani-families-with-nonsyndromic-or-syndromic-hearing-loss
#14
Rongrong Wang, Shirui Han, Amjad Khan, Xue Zhang
AIM: To investigate the causative genetic mutations in 12 Pakistani families with nonsyndromic or syndromic hearing loss. METHODS: Mutations in the most common causative gene for hearing loss, GJB2, were evaluated by Sanger sequencing. Targeted next-generation sequencing or whole-exome sequencing was used to analyze the genomic DNA samples from 11 probands with hearing loss. Sanger sequencing was performed to verify all identified variants. RESULTS: We found pathogenic, or likely to be pathogenic, mutations in all 12 families, including six known mutations in GJB2, SLC26A4, LHFPL5, and USH2A and eight novel mutations in ESPN, MYO7A, LRTOMT, PCDH15, USH2A, or EPS8L2...
March 10, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28277785/polymorphisms-in-the-il-17-gene-rs2275913-and-rs763780-are-associated-with-hepatitis-b-virus-infection-in-the-han-chinese-population
#15
Wei Ren, Zehua Wu, Ruixin Ma, Zhen Liu, Yingying Wang, Liqun Wu, Shiguo Liu, Zusen Wang
AIM: Interleukin-17 (IL-17) can accelerate the release of many pro-inflammatory cytokines. The purpose of our study was to investigate the potential association between polymorphisms in the IL-17 gene and susceptibility to hepatitis B virus (HBV) infection in the Han Chinese population. METHODS: We recruited 596 HBV-infected patients and 612 ethnically matched controls, who were then genotyped for the IL-17A and IL-17F polymorphisms, rs2275913 and rs763780, respectively, by using TaqMan probe-based real-time polymerase chain reaction...
March 9, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28277784/association-between-mthfr-c677t-polymorphism-and-methotrexate-treatment-outcome-in-rheumatoid-arthritis-patients-a-systematic-review-and-meta-analysis
#16
Wenjing Shao, Yi Yuan, Yuying Li
PURPOSE: Methotrexate (MTX) is one of the most widely used disease-modifying antirheumatic drugs for the treatment of rheumatoid arthritis (RA). However, its efficacy in RA patients is variable and unpredictable. Methylene tetrahydrofolate reductase (MTHFR) is an important enzyme in the MTX pathway and is involved in folate metabolism and DNA synthesis. Several studies have examined the association between the MTHFR C677T polymorphism and MTX toxicity and efficacy in RA, but their conclusions remain controversial...
March 9, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28277782/relationship-between-c-reactive-protein-serum-concentration-and-the-1846-c-t-rs1205-polymorphism-in-patients-with-acute-coronary-syndrome-from-western-mexico
#17
Gabriela Lizet Reynoso-Villalpando, Jorge Ramón Padilla-Gutiérrez, Angélica Valdez-Haro, Fidel Casillas-Muñoz, José Francisco Muñoz-Valle, Edgar Castellanos-Nuñez, Juan Carlos Chávez-Herrera, Yeminia Valle
AIM: To determine the relationship among the 1846 C>T (rs1205) polymorphism, C-reactive protein (CRP) concentration, and interleukin 6 (IL-6) serum levels in patients with acute coronary syndrome (ACS) from Western Mexico. METHODS: Three hundred participants in the control group (CG) and 300 patients with ACS from Western Mexico were included in the study. Genotyping was performed with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)...
March 9, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28384046/cross-validation-of-high-resolution-melting-analysis-based-genotyping-platform
#18
Taimour Langaee, Lynda Stauffer, Cheryl Galloway, Mohamed H Solayman, Larisa Cavallari
AIMS: Developing genetic and pharmacogenetic panels enhances genetic testing in clinical molecular diagnostics and precision medicine. This study was designed to cross-validate the performance of Canon's multiplex high-resolution DNA melting analysis platform with the Applied Biosystems TaqMan(®)-based Quant Studio Real-Time PCR System and Pyrosequencing(®) genotyping platforms for common genetic polymorphisms of the vitamin K epoxide reductase complex 1 (VKORC1) and CYP2C9. MATERIALS AND METHODS: Genomic DNA isolated from 240 blood and saliva samples was used to genotype the VKORC1-1639 G/A (rs9923231), CYP2C9*2 (430C>T, rs28371674), and CYP2C9*3 (1075A>C, rs1057910) single-nucleotide polymorphisms (SNPs) on the three above-mentioned genotyping platforms...
April 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28384045/ectopic-high-expression-of-e2-epf-ubiquitin-carrier-protein-indicates-a-more-unfavorable-prognosis-in-brain-glioma
#19
Xiaohui Zhang, Fangbo Zhao, Shujun Zhang, Yichun Song
AIMS: Ubiquitination of proteins meant for elimination is a primary method of eukaryotic cellular protein degradation. The ubiquitin carrier protein E2-EPF is a key degradation enzyme that is highly expressed in many tumors. However, its expression and prognostic significance in brain glioma are still unclear. The aim of this study was to reveal how the level of E2-EPF relates to prognosis in brain glioma. METHODS: Thirty low-grade and 30 high-grade brain glioma samples were divided into two tissue microarrays each...
April 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28384044/the-association-between-mgmt-promoter-methylation-and-patients-with-gastric-cancer-a-meta-analysis
#20
Xiaolong Yuan, Jifei Xu, Weiyang Fang, Zhenfeng Zhao, Fan Wang, Zhuting Tong
AIMS: Several previous studies have suggested that MGMT promoter methylation is significantly associated with gastric cancer, but the results were not consistent. Hence, we conducted a systematic meta-analysis to explore the potential correlation of MGMT promoter methylation with gastric cancer and its clinicopathologic characteristics. MATERIALS AND METHODS: Searches of PubMed, EMBASE, Web of Science, Cochrane Library, and Chinese National Knowledge Infrastructure (CNKI) literature databases were conducted to identify relevant studies published in English or Chinese before July 1, 2016...
April 2017: Genetic Testing and Molecular Biomarkers
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