Design of a Targeted Sequencing Assay to Detect Rare Mutations in Circulating Tumor DNA.

abstract：: Introduction: Cell-free DNA (cfDNA) methylation is an important molecular biomarker, which provides information about the regulation of gene expression in the tissue of origin. There is an inverse correlation between SOST gene methylation and expression levels. ...

journal_title：Genetic testing and molecular biomarkers

authors： Del Real A,Perez-Campo FM,Perez-Nuñez MI,Sañudo C,Santurtun A,Garcia-Ibarbia C,Garcia-Unzueta MT,Fraga MF,Fernandez AF,Valero MC,Laguna E,Riancho JA

更新日期：2021-01-01 00:00:00

abstract：:We studied the effect of five newly synthesized steroidal derivatives of nitrogen mustards. These derivatives have as alkylators either P-N, N-bis(2-chloroethyl)aminophenyl-butyrate (CHL) or P-N, N-bis(2-chloroethyl)aminophenyl-acetate (PHE) groups esterified with different modified steroidal nuclei. We examined them ...

journal_title：Genetic testing and molecular biomarkers

authors： Mourelatos C,Nikolaropoulos S,Fousteris M,Pairas G,Argyraki M,Kareli D,Dafa E,Mourelatos D,Lialiaris T

更新日期：2012-06-01 00:00:00

abstract：BACKGROUND:Epigenetic alterations in the global DNA methylation status may be associated with an increased risk of some cancer types in humans. The methylenetetrahydrofolate reductase (MTHFR) gene is involved in folic acid metabolism and plays an essential role in inherited DNA methylation profiles. The common 677 C>T ...

journal_title：Genetic testing and molecular biomarkers

authors： Ozdemir S,Silan F,Hasbek Z,Uludag A,Atik S,Erselcan T,Ozdemir O

更新日期：2012-07-01 00:00:00

abstract：BACKGROUND:Cytotoxic T lymphocyte antigen-4 (CTLA-4) plays a pivotal role in immune homeostasis. Dysregulated expression of CTLA-4 leads to many autoimmune diseases, including rheumatoid arthritis, systemic lupus erythematosus, and type 1 diabetes (T1D). There has been a controversial association between the CTLA-4 +49...

journal_title：Genetic testing and molecular biomarkers

authors： Wang K,Zhu Q,Lu Y,Lu H,Zhang F,Wang X,Fan Y

更新日期：2017-04-01 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：AIMS:The etiology of infertility is still unknown in almost half of all male infertility patients. In sperm, DNA condensation differs from somatic and female gamete cells, with the protamine (PRM) gene and its transcription factor, Y-box binding protein 2 (YBX2), playing key roles in making the structure more compact. ...

journal_title：Genetic testing and molecular biomarkers

authors： Aydos OSE,Hekmatshoar Y,Altınok B,Özkan T,Şakirağaoğlu O,Karadağ A,Kaplan F,Ilgaz S,Taşpınar M,Yükselen I,Sunguroğlu A,Aydos K

更新日期：2018-01-01 00:00:00

abstract：BACKGROUND:Bronchopulmonary dysplasia (BPD) is a multifactorial disease of preterm infants that is characterized by airway injury, inflammation, and parencymal remodeling. Activation of the coagulation cascade leads to intraalveolar fibrin deposition in many inflammatory pulmonary disorders. Increased fibrin formation ...

journal_title：Genetic testing and molecular biomarkers

authors： Ince DA,Atac FB,Ozkiraz S,Dilmen U,Gulcan H,Tarcan A,Ozbek N

更新日期：2010-10-01 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：: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：:Diabetic nephropathy is the leading cause of end-stage renal disease in the world. The cause of diabetic nephropathy seems to be multifactorial, and about one-third of patients with diabetes eventually develop this complication. The gene encoding ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) is a candidat...

journal_title：Genetic testing and molecular biomarkers

authors： Lin CC,Wu CT,Wu LS

更新日期：2011-04-01 00:00:00

abstract：:The successful advent of a genome-wide approach in association studies raises the hopes of human geneticists for solving a genetic maze of complex traits especially the disorders. This approach, which is replete with the application of cutting-edge technology and supported by big science projects (like Human Genome Pr...

journal_title：Genetic testing and molecular biomarkers

authors： Gupta V,Khadgawat R,Sachdeva MP

更新日期：2009-12-01 00:00:00

abstract：OBJECTIVE:To investigate the relationship between the PARP-1 rs3219073 C>G polymorphism and susceptibility to lung cancer in Chinese people. METHODS:In accordance with the case-control study principle, 645 of the patients had histologically recognized primary lung cancer, among them 240 had squamous carcinoma, 217 had...

journal_title：Genetic testing and molecular biomarkers

authors： Wang HT,Gao Y,Zhao YX,Yu H,Wang TL,Bai L,Chen YZ,Zhang HB,Zhou BS,Qu YL,Liu D,Chen Y

更新日期：2014-11-01 00:00:00

abstract：:Mutations in GJB2 gene are the most common cause of nonsyndromic sensorineural recessive hearing loss. One specific mutation, c.35delG, is the most frequent in the majority of Caucasian populations and may account for up to 70% of all GJB2 mutations. However, 10-40% of the patients carry only one pathogenic mutation i...

journal_title：Genetic testing and molecular biomarkers

authors： da Silva-Costa SM,Coeli FB,Lincoln-de-Carvalho CR,Marques-de-Faria AP,Kurc M,Pereira T,Pomilio MC,Sartorato EL

更新日期：2009-10-01 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：:The aim of the study was to determine (1) the frequency and type of mutations in the coding region of the GJB2 gene (sequencing), (2) the frequency of splice site mutation IVS1 + 1G > A in the GJB2 gene (multiplex ligation-dependent probe amplification analysis), (3) possible copy number changes in the GJB2, GJB3, GJB...

journal_title：Genetic testing and molecular biomarkers

authors： Sansović I,Knezević J,Musani V,Seeman P,Barisić I,Pavelić J

更新日期：2009-10-01 00:00:00

abstract：PURPOSE:We describe a real-time polymerase chain reaction (PCR) protocol based on the fluorescent molecule SYBR Green chemistry, for a low- to medium-throughput analysis of Y-chromosome microdeletions, optimized according to the European guidelines and aimed at making the protocol faster, avoiding post-PCR processing, ...

journal_title：Genetic testing and molecular biomarkers

authors： Segat L,Padovan L,Doc D,Petix V,Morgutti M,Crovella S,Ricci G

更新日期：2012-12-01 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：AIMS:The purpose of the study was to develop a new assay for genotyping nine single nucleotide polymorphisms (SNPs) that are known to be associated with melanoma. METHODS:Two-stage single tube polymerase chain reaction (PCR) followed by hybridization on a biochip was developed and applied in the study. RESULTS:A tota...

journal_title：Genetic testing and molecular biomarkers

authors： Fesenko DO,Chudinov AV,Surzhikov SA,Zasedatelev AS

更新日期：2016-04-01 00:00:00

abstract：:Next-generation sequencing has changed the face of cancer immunotherapy research by making tumor-specific cancer vaccines a reality. Whole exome sequencing and RNA sequencing combined with bioinformatic pipelines allow the prediction of neoantigen targets for cancer vaccines. In this review, we discuss the preclinical...

journal_title：Genetic testing and molecular biomarkers

authors： Lancaster EM,Jablons D,Kratz JR

更新日期：2020-02-01 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：AIMS:To investigate the association between transforming growth factor-beta3 (TGF-β3) genetic polymorphisms and nonsyndromic cleft lip and palate (NSCLP) risk. METHODS:An extensive literature search for relevant studies was conducted on PubMed, Embase, Web of Science, Cochrane Library, and CBM databases from their inc...

journal_title：Genetic testing and molecular biomarkers

authors： Tang M,Wang Y,Han S,Guo S,Wang D

更新日期：2013-12-01 00:00:00

abstract：:Mutations in FOXL2 gene are responsible for blepharophimosis ptosis epicanthus inversus and telecanthus syndrome (BPES). The BPES syndrome is a rare autosomal dominant genetic disease characterized by eyelid malformations associated with premature ovarian failure (BPES type I) or not (BPES type II). The human FOXL2 pr...

journal_title：Genetic testing and molecular biomarkers

authors： Chouchene I,Derouiche K,Chaabouni A,Cherif L,Amouri A,Largueche L,Abdelhak S,El Matri L

更新日期：2010-02-01 00:00:00

abstract：AIM:The objective of this study was to investigate the prevalence of polymorphic markers of the CYP2C19, CYP2C9, CYP2D6, SLCO1B1, and ABCB1 genes among the three ethnic groups in Dagestan and compare it with the carrier frequency of these markers among the Russian population living in Moscow. METHODS:The study involve...

journal_title：Genetic testing and molecular biomarkers

authors： Mirzaev KB,Sychev DA,Ryzhikova KA,Konova OD,Mammaev SN,Gafurov DM,Shuev GN,Grishina EA,Sozaeva ZA

更新日期：2017-12-01 00:00:00

abstract：AIMS:Efficient genotyping methods for many biologically significant repeat genetic polymorphisms, particularly in GC-rich regions of the genome, are limited. In particular, a short tandem repeat polymorphism [GGCGGG] in the promoter region of ALOX5 has been implicated as an important marker for inflammatory diseases. W...

journal_title：Genetic testing and molecular biomarkers

authors： Schentrup AM,Allayee H,Lima JJ,Johnson JA,Langaee TY

更新日期：2009-06-01 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：OBJECTIVE:Interleukin-6 (IL-6) is a pleiotropic cytokine and important mediator of many inflammatory processes, which might affect susceptibility to multiple sclerosis (MS). The aim of this study was to assess the effect of IL-6-174G/C polymorphism on the risk of MS using a meta-analysis. MATERIALS AND METHODS:The Pub...

journal_title：Genetic testing and molecular biomarkers

authors： Hu S,Chen Y,Sun XD,Li FJ,Shu QF,Liu XL,Jiang SF

更新日期：2014-02-01 00:00:00

abstract：BACKGROUND:Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal-dominant inherited disease. This study was carried out to investigate the genetic and functional changes within the FOXL2 gene in two Chinese families with BPES. MATERIALS AND METHODS:DNA was extracted from the peripheral blood ...

journal_title：Genetic testing and molecular biomarkers

authors： Li H,Gu Y

更新日期：2018-10-01 00:00:00

abstract：OBJECTIVE:To examine the association between apolipoprotein B (ApoB) XbaI polymorphisms (rs693) and coronary heart disease (CHD) risk among the Han Chinese population by systematically analyzing multiple independent studies. METHODS:The Hardy-Weinberg equilibrium test was applied to check genetic equilibrium among gen...

journal_title：Genetic testing and molecular biomarkers

authors： Chen Y,Lin M,Liang Y,Zhang N,Rao S

更新日期：2016-06-01 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：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