Modified tetra-primer ARMS PCR as a single-nucleotide polymorphism genotyping tool.

abstract：AIMS:Increasing evidence links the abnormal expression of microRNAs and ATP-binding cassette subfamily C member 4 (ABCC4) with tumor development and progression, as well as with chemoresistance. Our aims were to determine the therapeutic potential of targeting both miR-124-3p and ABCC4 in breast cancer cells and to det...

journal_title：Genetic testing and molecular biomarkers

authors： Hu D,Li M,Su J,Miao K,Qiu X

更新日期：2019-03-01 00:00:00

abstract：:Polymorphisms in DNA repair genes may be associated with differences in the repair efficiency of DNA damage and may influence an individual's risk of atherosclerosis. Genetic research on coronary artery disease (CAD) has traditionally focused on investigation aimed at identifying disease-susceptibility genes. The aim ...

journal_title：Genetic testing and molecular biomarkers

authors： Gokkusu C,Cakmakoglu B,Dasdemir S,Tulubas F,Elitok A,Tamer S,Seckin S,Umman B

更新日期：2013-04-01 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 estrogen receptor β (ERβ) mediates the action of estrogen on metabolism of lipids and lipoprotein. Therefore, its gene is a promising candidate gene for cardiovascular disease. The aim of the present study was to investigate whether the ERβ A1730G polymorphism modifies the metabolic response to hormone replacement...

journal_title：Genetic testing and molecular biomarkers

authors： Darabi M,Ani M,Panjehpour M,Rabbani M,Movahedian A,Zarean E

更新日期：2011-01-01 00:00:00

abstract：AIMS:The dopaminergic and endocannabinoid systems are involved in regulation of feeding behavior. The aim of the study is to examine the possible relation between polymorphisms of the dopamine D2 receptor (DRD2) and cannabinoid receptor-1 (CNR1) genes and childhood obesity. METHODS:A hundred obese children and 100 hea...

journal_title：Genetic testing and molecular biomarkers

authors： Col Araz N,Nacak M,Oguzkan Balci S,Benlier N,Araz M,Pehlivan S,Balat A,Aynacioglu AS

更新日期：2012-12-01 00:00:00

abstract：:Hereditary hemochromatosis is an inherited disorder of iron metabolism, characterized by high absorption of iron by the gastrointestinal tract leading to a toxic accumulation of iron in various organs and impaired organ function. Three variants in the HFE gene (p.C282Y, p.H63D, and p.S65C) are commonly associated with...

journal_title：Genetic testing and molecular biomarkers

authors： Sumner K,Hubley L,Pont-Kingdon G,Mitchell S,Wayman T,Wilson A,Meadows C,Elenitoba-Johnson K,Pattison D,Dobrowolski S,Best H,Lyon E

更新日期：2012-07-01 00:00:00

abstract：BACKGROUND:The distribution of polymorphisms in the CYP2D6 and CYP2C19 genes allows inferring the potential risk for specific adverse drug reactions and lack of therapeutic effects in humans. This variability shows differences among human populations. The aim of this study was to analyze single-nucleotide polymorphisms...

journal_title：Genetic testing and molecular biomarkers

authors： Salazar-Flores J,Torres-Reyes LA,Martínez-Cortés G,Rubi-Castellanos R,Sosa-Macías M,Muñoz-Valle JF,González-González C,Ramírez A,Román R,Méndez JL,Barrera A,Torres A,Medina R,Rangel-Villalobos H

更新日期：2012-09-01 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：:Recent studies have identified genetic markers that may directly influence the risk of the coronary artery disease (CAD), in particular the renin angiotensin system genes. Since there are no existing data for the Tunisian population, we investigated the association between these polymorphisms (angiotensin-converting e...

journal_title：Genetic testing and molecular biomarkers

authors： Abboud N,Ghazouani L,Kaabi B,Ben-Hadj-Khalifa S,Addad F,Marwen M,Almawi WY,Mahjoub T

更新日期：2010-10-01 00:00:00

abstract：AIMS:To identify the pathogenic mutation underlying microcephaly primary hereditary (MCPH) in a large consanguineous Pakistani family. METHODS:A five-generation family with an autosomal recessive transmission of MCPH was recruited. Targeted next-generation DNA sequencing was carried out to analyze the genomic DNA samp...

journal_title：Genetic testing and molecular biomarkers

authors： Khan A,Wang R,Han S,Ahmad W,Zhang X

更新日期：2018-03-01 00:00:00

abstract：AIMS:Poly (ADP-ribose) polymerase-1 (PARP-1) plays an important role in the repair of damaged DNA and has prognostic significance in a variety of human malignancies. However, little is known about its expression levels and clinical implication in patients with acute myeloid leukemia (AML). MATERIALS AND METHODS:Quanti...

journal_title：Genetic testing and molecular biomarkers

authors： Pashaiefar H,Yaghmaie M,Tavakkoly-Bazzaz J,Ghaffari SH,Alimoghaddam K,Momeny M,Izadi P,Izadifard M,Kasaeian A,Ghavamzadeh A

更新日期：2018-06-01 00:00:00

abstract：AIM:The insertion/deletion (I/D) polymorphism of the angiotensin-converting enzyme (ACE) gene is associated with vitiligo in the Indians and Koreans, but not in those of English or Turkish background. We investigated the ACE (I/D) polymorphism in vitiligo patients for the first time in Egypt and compared serum ACE leve...

journal_title：Genetic testing and molecular biomarkers

authors： Badran DI,Nada H,Hassan R

更新日期：2015-05-01 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：: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：: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：: 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：UNLABELLED:Previous studies suggest that the MDM2 gene is one of the most important candidate genes for influencing the risk of osteosarcoma. This study aims to investigate the potential association of MDM2 c.346G>A genetic variant with the risk of osteosarcoma in Chinese. A total of 738 subjects were recruited in this...

journal_title：Genetic testing and molecular biomarkers

authors： Hu Z,Li N,Xie X,Jiang R

更新日期：2015-02-01 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：AIMS:Since desmin expression is diminished in vascular smooth muscle cells during reparative processes, we wanted to study whether a common intragenic single nucleotide polymorphism at nucleotide position 828 (rs1058261) of the DES gene associates with hypertension, cerebrovascular complications, and all cardiovascular...

journal_title：Genetic testing and molecular biomarkers

authors： Piesanen J,Kunnas T,Nikkari ST

更新日期：2018-09-01 00:00:00

abstract：:High-resolution melting (HRM) of DNA is a versatile method for mutation scanning that monitors the fluorescence of double-strand DNA with saturating dye. Performing HRM on a real-time thermocycler enables semiquantitative analysis (quantitative polymerase chain reaction, qPCR) to be associated to HRM analysis for dete...

journal_title：Genetic testing and molecular biomarkers

authors： Coulet F,Pires F,Rouleau E,Lefol C,Martin S,Colas C,Cohen-Haguenauer O,Giurgea I,Fajac A,Noguès C,Demange L,Hardouin A,Lidereau R,Soubrier F

更新日期：2010-10-01 00:00:00

abstract：:A 26-year-old woman with secondary amenorrhea and turneroid stigmata was found to have a 46,X,rea(X)(qter→p11.2::q21.2→qter)/46,X,del(X)(qter→p11.2:) mosaicism in 101 G-banded metaphases (71 and 30, respectively). The mother's karyotype was normal (the father was already deceased). A fully skewed inactivation of both ...

journal_title：Genetic testing and molecular biomarkers

authors： Vásquez-Velásquez AI,Torres-Flores J,Leal CA,Rivera H

更新日期：2011-10-01 00:00:00

abstract：AIMS:The relationship between common haplotype-tagging polymorphisms (rs266729 [11365C>G], rs822395 [-4034A>C], rs822396 [-3964A>G], rs2241766 [45T>G], and rs1501299 [276G>T]) in the ADIPOQ gene and cancer risk has been investigated in different ethnic groups; however, these studies have yielded contradictory results. ...

journal_title：Genetic testing and molecular biomarkers

authors： Li Q,Ma Y,Sang W,Cui W,Li X,Liu X,Zhang W

更新日期：2014-06-01 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: 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：:Genetic testing of myotonic dystrophy type 1 (DM1) is very important because it enables the diagnosis and indicates the severity of the disease. Mutation analysis is based on the detection of the number of CTG triplets in the 3' untranslated region of the myotonic dystrophy protein kinase (DMPK) gene. Sometimes it cou...

journal_title：Genetic testing and molecular biomarkers

authors： Addis M,Serrenti M,Meloni C,Cau M,Melis MA

更新日期：2012-12-01 00:00:00

abstract：: Background and Purpose: Mucopolysaccharidosis 1 (MPS1) is an autosomal recessive disorder of a lysosomal enzyme called alpha-l-iduronidase caused by mutations in the IDUA gene. This enzyme is responsible for the degradation of the mucopolysaccharides, heparan sulfate, and ...

journal_title：Genetic testing and molecular biomarkers

authors： Kamranjam M,Alaei M

更新日期：2019-08-01 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：AIMS:Genetic testing has become a routine part of prenatal care, the test being offered according to ethnic origin. However, not all clients take the offered tests while others take unnecessary tests. The present study aimed at examining the effects of risk perception, hypochondria, trait anxiety, and attitudes to gene...

journal_title：Genetic testing and molecular biomarkers

authors： Barnoy S,Zelikaman L,Bar-Tal Y

更新日期：2009-08-01 00:00:00

abstract：: Background: To determine whether vitamin D receptor (VDR) gene polymorphisms are correlated with susceptibility to diabetic vascular complications. Methods: We included all eligible studies, and used Stata12.0 to calculate the ...

journal_title：Genetic testing and molecular biomarkers

authors： Song N,Yang S,Wang YY,Tang SQ,Zhu YQ,Dai Q,Zhang H

更新日期：2019-08-01 00:00:00

abstract：:The association between excision repair cross complementing group 2 (ERCC2) Asp312Asn polymorphism and lung cancer has been reported by many articles recently, but the results were controversial and inconclusive. Therefore, a meta-analysis was conducted to assess the relationship between them. Pooled odds ratios (ORs)...

journal_title：Genetic testing and molecular biomarkers

authors： Tan X,Wang Y,Shi L,Xian L,Guo J,Liang G,Chen M

更新日期：2014-01-01 00:00:00