To take or not to take genetic carrier tests: personal characteristics associated with taking recommended and nonrecommended tests.

abstract：: Objective: To investigate any associations between the single nucleotide polymorphisms (SNPs) at the interleukin-6 (IL-6) rs1800796, interleukin-10 (IL-10) rs1800896, and the tumor necrosis factor-alpha (TNF-α) rs1800629 loci with gestational diabetes mellitus (GDM) suscep...

journal_title：Genetic testing and molecular biomarkers

authors： Wei Q,Chen X,Chen H

更新日期：2020-07-01 00:00:00

abstract：:The KRAS pathway and studies evaluating KRAS as a prognostic marker in colorectal cancer are discussed along with advances in KRAS gene mutation testing. Highly sensitive real-time polymerase chain reaction (PCR) methods were developed for this purpose. We examined the applicability of direct sequencing and two real-t...

journal_title：Genetic testing and molecular biomarkers

authors： Hancer VS,Buyukdogan M,Türkmen I,Bassullu N,Altug T,Diz-Kucukkaya R,Bulbul-Dogusoy G,Demir G

更新日期：2011-11-01 00:00:00

abstract：:Retinoblastoma (RB) is the most common malignant intraocular tumor in children. Fifty percent of RB patients are carriers of a predisposing germline mutation with high penetrance. RB1 has been identified as the only pathological gene. We present the rapid detection of an RB1 gene mutation in a Han pedigree of two RB p...

journal_title：Genetic testing and molecular biomarkers

authors： Chen CY,Xu CM,Du ZF,Chen XL,Ren GL,Zhang XN

更新日期：2010-04-01 00:00:00

abstract：:P-glycoprotein (P-gp) is present in various tissue cells, required for the pumping of lipophilic drugs (including glucocorticoids) out of cells. We hypothesized that polymorphisms in the P-gp encoding gene (multidrug-resistant transporter-1 [MDR1]) are related to individual differences in glucocorticoid sensitivity an...

journal_title：Genetic testing and molecular biomarkers

authors： Xue Y,Zhao ZQ,Hong D,Zhang HJ,Chen HX,Fan SW

更新日期：2014-03-01 00:00:00

abstract：AIM:Neurexin 1 has two major protein isoforms using alternative promoters, coding for the alpha-neurexin 1 (α-NRXN1) and beta-neurexin 1 (β-NRXN1) genes. This study is to explore the possibility that variants of the NRXN1 gene predispose to intellectual disability (ID) and autism spectrum disorder (ASD). METHODS:The c...

journal_title：Genetic testing and molecular biomarkers

authors： Yangngam S,Plong-On O,Sripo T,Roongpraiwan R,Hansakunachai T,Wirojanan J,Sombuntham T,Ruangdaraganon N,Limprasert P

更新日期：2014-07-01 00:00:00

abstract：BACKGROUND:Blood clots can be used to extract DNA, but they are not as widely used as whole blood or buffy coats. This is due not only because of the relatively low DNA yields and quality obtained from blood clots, but also because sampling prior to DNA extraction is more difficult. METHODS:To solve these problems, we...

journal_title：Genetic testing and molecular biomarkers

authors： Zhou G,Du Y,Wu Y,Wang WC

更新日期：2019-01-01 00:00:00

abstract：:Aim: To determine the differences in the frequencies of polymorphic variants at the rs4244285(*2), rs4986893 (*3), rs12248560 (*17), loci of the CYP2C19 gene, and the rs2305948 locus of the VEGFR-2 gene in patients receiving clopidogrel treatment as part of a 30-day clinical outcome trial in the Russian and Buryat reg...

journal_title：Genetic testing and molecular biomarkers

authors： Zelenskaya EM,Lifshits GI,Nikolaev KY,Donirova OS,Altayev VD,Apartsin KA,Voronina EN,Protasov KV,Sychev DA

更新日期：2020-06-01 00:00:00

abstract：AIMS:Chronic granulomatous disease (CGD) is a rare inherited disorder caused by mutations in the subunits of the NADPH oxidase complex, leaving phagocytes unable to produce superoxide and thereby unable to kill invading microorganisms. A subgroup of CGD patients (approximately 20%) is reported to have mutations in NCF-...

journal_title：Genetic testing and molecular biomarkers

authors： Jakobsen MA,Pedersen SS,Barington T

更新日期：2009-08-01 00:00:00

abstract：:Matrix metalloproteinases (MMPs) are a family of enzymes that degrade extracellular matrix components and are involved in the development and progression of cancer. Lung cancer is the most commonly diagnosed cancer in Lebanon. This study was undertaken to investigate the association between -1171(5A>6A) polymorphism i...

journal_title：Genetic testing and molecular biomarkers

authors： Fakhoury HM,Noureddine S,Tamim H,Chmaisse H,Makki R

更新日期：2012-08-01 00:00:00

abstract：:Impaired energy homeostasis and low-grade inflammation have been related to components of the metabolic syndrome (MetS) such as dyslipidemia, obesity, and insulin resistance. Single-nucleotide polymorphisms in the genes encoding for IL-6 (g.-634G>C; c.174G>C), TNFα (g.-308G>A), methylenetetrahydrofolate reductase (MTH...

journal_title：Genetic testing and molecular biomarkers

authors： Vasilopoulos Y,Sarafidou T,Bagiatis V,Skriapa L,Goutzelas Y,Pervanidou P,Lazopoulou N,Chrousos GP,Mamuris Z

更新日期：2011-09-01 00:00:00

abstract：:Genes and their products involved in the biological pathways of human cancers have been studied as either targets of new therapies, or predictive markers for the sensitivity of or resistance to the therapies. Companion diagnostic testing on biological markers for targeted cancer therapies has become a vital component ...

journal_title：Genetic testing and molecular biomarkers

authors： Fan YS

更新日期：2013-07-01 00:00:00

abstract：:The lamin A/C proteins are major structural and functional components of the nuclear lamina. Mutations identified in LMNA encoding lamin A/C belong to the most frequently described causes for inherited forms of dilated cardiomyopathy (DCM). To elucidate the clinical characteristics of LMNA mutation carriers we perform...

journal_title：Genetic testing and molecular biomarkers

authors： Stallmeyer B,Koopmann M,Schulze-Bahr E

更新日期：2012-06-01 00:00:00

abstract：AIM:The present study was undertaken to investigate a length polymorphism of (GT)n repeats of the heme oxygenase-1 (HMOX-1) gene and its association with serum bilirubin levels in apparently healthy adults. METHODS:A total of 211 individuals (normal hematology and liver function test) with bilirubin levels of 1.7 to 2...

journal_title：Genetic testing and molecular biomarkers

authors： D'Silva S,Borse V,Colah RB,Ghosh K,Mukherjee MB

更新日期：2011-04-01 00:00:00

abstract：: Background: Numerous studies, ranging from the alleviation of tissue ischemia to the assessment of cancer prognosis, have demonstrated the fundamental biological differences between human umbilical cord blood-derived endothelial progenitor cells (CB-EPCs) and adult periphe...

journal_title：Genetic testing and molecular biomarkers

authors： Wang Q,Chen S,Wu J,Liu D,Jiang N,Wang B,Zhai J,Liu Z

更新日期：2020-09-01 00:00:00

abstract：AIM:Our aim was to examine the diagnostic yield of genetic testing in 855 consecutive unrelated cases referred for Long QT syndrome (LQTS). RESULTS:Eight hundred fifty five consecutive patients with a mean age at testing of 27.5±18.6 years, were referred for LQTS genetic testing and had accompanying clinical informati...

journal_title：Genetic testing and molecular biomarkers

authors： Lieve KV,Williams L,Daly A,Richard G,Bale S,Macaya D,Chung WK

更新日期：2013-07-01 00:00:00

abstract：: Aims: Aryl hydrocarbon receptor-interacting protein (AIP) gene mutations have long been associated with apparently sporadic pituitary adenomas (PAs) with a prevalence range of 0-12%. The aim of this study was to evaluate the frequency of germline AIP variations in a large ...

journal_title：Genetic testing and molecular biomarkers

authors： Tuncer FN,Çiftçi Doğanşen S,Serbest E,Tanrıkulu S,Ekici Y,Bilgiç B,Yarman S

更新日期：2018-12-01 00:00:00

abstract：OBJECTIVES:Somatic mutations in mediator complex subunit 12 (MED12) have emerged as a critical genetic change in the development of uterine leiomyomas. Studies, however, have focused largely on cohorts consisting of Caucasian patients. In this study, uterine leiomyomas from Chinese patients were examined for MED12 muta...

journal_title：Genetic testing and molecular biomarkers

authors： Wang H,Ye J,Qian H,Zhou R,Jiang J,Ye L

更新日期：2015-03-01 00:00:00

abstract：BACKGROUND:+49A/G polymorphism of the cytotoxic T-lymphocyte-associated antigen-4 gene (CTLA-4) has been associated with type 1 diabetes (T1D). However, results were inconsistent. The aim of this study was to quantitatively summarize the evidence for CTLA-4 +49A/G polymorphism and T1D. METHODS:Electronic search of Pub...

journal_title：Genetic testing and molecular biomarkers

authors： Si X,Zhang X,Luo Y,Tang W

更新日期：2012-11-01 00:00:00

abstract：: Background: Single nucleotide polymorphisms (SNPs) within precursor microRNAs (miRNAs) can affect the expression of the miRNAs and may be involved in the pathogenesis of pulmonary tuberculosis (PTB) and extrapulmonary tuberculosis (EPTB). Aims: ...

journal_title：Genetic testing and molecular biomarkers

authors： Chen WW,Wan B,Zhang R,Cao W,Liang L,Zhao YL,Chen J,Yue J

更新日期：2019-07-01 00:00:00

abstract：AIMS:Essential hypertension (EH) is a disease in which both environment and genes have an important role. This study was designed to identify the interaction model between genetic variants and environmental risk factors that most highly potentiates EH development. METHODS:We performed a case-control study with 1641 pa...

journal_title：Genetic testing and molecular biomarkers

authors： Sousa AC,Mendonça MI,Pereira A,Gouveia S,Freitas AI,Guerra G,Rodrigues M,Henriques E,Freitas S,Borges S,Pereira D,Brehm A,Palma Dos Reis R

更新日期：2017-10-01 00:00:00

abstract：PURPOSE:This study was undertaken to describe cancer risk assessment practices among primary care providers (PCPs). METHODS:An electronic survey was sent to PCPs affiliated with a single insurance carrier. Demographic and practice characteristics associated with cancer genetic risk assessment and testing activities we...

journal_title：Genetic testing and molecular biomarkers

authors： Vig HS,Armstrong J,Egleston BL,Mazar C,Toscano M,Bradbury AR,Daly MB,Meropol NJ

更新日期：2009-12-01 00:00:00

abstract：AIMS:New sequencing technologies allow increased opportunities to use genomic-based diagnostic tests (genomic tests) in routine clinical practice, which will impact healthcare budgets and patients' outcomes. This article aims to generate a list of recommendations on how the principles and methods of cost-effectiveness ...

journal_title：Genetic testing and molecular biomarkers

authors： Spackman E,Hinde S,Bojke L,Payne K,Sculpher M

更新日期：2017-12-01 00:00:00

abstract：:Up to date, few published studies indicated the associations between genetic polymorphisms and epidural local anesthetics consumption. In this study, we investigated the associations between seven single-nucleotide polymorphisms (SNPs) and epidural ropivacaine consumption during breast cancer surgery in women from nor...

journal_title：Genetic testing and molecular biomarkers

authors： Liu J,Jiang Y,Pang D,Xi H,Liu Y,Li W

更新日期：2013-06-01 00:00:00

abstract：BACKGROUND:Cystic fibrosis (CF) is the most common inherited disorder in Caucasian populations, with more than 1400 cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations. The type of mutations and their distributions varies widely between different countries and/or ethnic groups. METHODS:We charact...

journal_title：Genetic testing and molecular biomarkers

authors： Sachdeva K,Saxena R,Puri R,Bijarnia S,Kohli S,Verma IC

更新日期：2012-07-01 00:00:00

abstract：:Molecular characterization of 27 cytogenetically confirmed Indian XY females was attempted by screening selected regions of candidate genes namely SRY (HMG box) and the ligand-binding domain of androgen receptor (AR) (Exons 5-8). Three of the index cases showed sequence variations in exons of the AR gene: a deletion m...

journal_title：Genetic testing and molecular biomarkers

authors： Vasu VR,Saranya B,Jayashankar M,Munirajan AK,Santhiya ST

更新日期：2012-07-01 00:00:00

abstract：:The single-nucleotide polymorphisms (SNPs) of the Mina gene in animals are associated with the development of Th2-mediated diseases. However, there is no information whether the association occurs in humans. This case-control study aimed at examining the potential association of the SNP of the Mina gene with the devel...

journal_title：Genetic testing and molecular biomarkers

authors： Chen Y,Yang X,Huang Y,Liu E,Wang L

更新日期：2011-07-01 00:00:00

abstract：AIM:To assess the use of mitochondrial DNA (mtDNA) content as a noninvasive molecular biomarker in hepatitis C virus-related hepatocellular carcinoma (HCV-HCC). MATERIALS AND METHODS:A total of 135 participants were enrolled in the study. Equal numbers of subjects were enrolled in each of three clinically defined grou...

journal_title：Genetic testing and molecular biomarkers

authors： Hashad DI,Elyamany AS,Salem PE

更新日期：2015-11-01 00:00:00

abstract：:The genes involved in androgen pathway and metabolism have been reported to contribute considerably to prostate carcinoma (CaP) risk. The present study investigated the association of androgen receptor (AR), prostate-specific antigen (PSA or KLK3), and cytochrome P450 (CYP19) gene polymorphisms in CaP (n=105) and beni...

journal_title：Genetic testing and molecular biomarkers

authors： Soni A,Bansal A,Mishra AK,Batra J,Singh LC,Chakraborty A,Yadav DS,Mohanty NK,Saxena S

更新日期：2012-08-01 00:00:00

abstract：BACKGROUND:Previous studies have found an association between the SNP rs143383 + 104T/C in the growth differentiation factor 5 (GDF5) gene and the risk of developing knee osteoarthritis (KOA) in various populations worldwide. OBJECTIVE:To discover if there is an association between the SNP rs143383 + 104T/C, in the GD...

journal_title：Genetic testing and molecular biomarkers

authors： García-Alvarado F,Rosales-González M,Arellano-Pérez-Vertti D,Espino-Silva P,Meza-Velazquez M,Ruiz-Flores P

更新日期：2018-08-01 00:00:00

abstract：:We determined the frequencies of null mutations of the FLG gene--2282del4, R501X, R2447X, 3702delG, S3247X, and the 12-repeat allele (rs12730241)--among 460 Caucasians of the city of Novosibirsk, Russia. The frequency was 17.7% for rs12730241, 2.73% for 2282del4, 0.22% for R501X, 0.33% for R2447X, and 0% for 3702delG ...

journal_title：Genetic testing and molecular biomarkers

authors： Komova EG,Shintyapina AB,Makarova SI,Ivanov MK,Chekryga EA,Kaznacheeva LF,Vavilin VA

更新日期：2014-12-01 00:00:00