Increased T-allele frequency of 677 C>T polymorphism in the methylenetetrahydrofolate reductase gene in differentiated thyroid carcinoma.

abstract：OBJECTIVE:Essential hypertension is a multifactorial disease in which genetic and environmental factors play an important role. The renin-angiotensin system (RAS) is known to play a critical role in the homeostasis of blood pressure. Angiotensin-I converting enzyme (ACE) is a significant component of RAS, and an insert...

journal_title：Genetic testing and molecular biomarkers

authors： Srivastava K,Sundriyal R,Meena PC,Bhatia J,Narang R,Saluja D

更新日期：2012-03-01 00:00:00

abstract：: Aims: To compare fine-needle aspiration cytology (FNAC) with imprinted gene detection in the differential diagnosis of benign and malignant thyroid nodules. Methods: A total of 34 patients (35 cases of thyroid nodules) were exa...

journal_title：Genetic testing and molecular biomarkers

authors： Zou D,Wu C,Miao J,Shao Q,Huang W,Huang J,Wu G,Zhang Q

更新日期：2019-09-01 00:00:00

abstract：AIM:To investigate the association between high myopia (HM) and single nucleotide polymorphisms (SNPs) in the myocilin (MYOC), hepatocyte growth factor (HGF), hepatocyte growth factor receptor (MET), and aggrecan (ACAN) genes in a Han Chinese population. METHODS:Sixteen SNPs were genotyped by the SNaPshot method in a ...

journal_title：Genetic testing and molecular biomarkers

authors： Yang X,Liu X,Peng J,Zheng H,Lu F,Gong B,Zhao G,Meng Y,Guan H,Ning M,Yang Z,Shi Y

更新日期：2014-06-01 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：BACKGROUND:Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominant vascular disorder with three disease-causing genes identified to date: ENG, ACVRL1, and SMAD4. We report an HHT patient with allelic dropout that on routine sequence analysis for a known mutation in the family (c.817-3T>G in ENG) initially ...

journal_title：Genetic testing and molecular biomarkers

authors： Tørring PM,Kjeldsen AD,Ousager LB,Brasch-Andersen C,Brusgaard K

更新日期：2012-12-01 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

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:Urothelial carcinoma (UC) is the most common histologic subtype of bladder cancer. The administration of mitomycin C (MMC) into the bladder after transurethral resection of the bladder tumor (TURBT) is a common treatment strategy for preventing recurrence after surgery. We previously applied hydrostatic pres...

journal_title：Genetic testing and molecular biomarkers

authors： Chen SK,Chung CA,Cheng YC,Huang CJ,Chen WY,Ruaan RC,Li C,Tsao CW,Hu WW,Chien CC

更新日期：2014-06-01 00:00:00

abstract：BACKGROUND:Several published articles investigated the relationship between a polymorphism -148C>T in the β-fibrinogen gene (FGB) and risk of ischemic stroke, and did not reach the same conclusion. To shed light on these inconclusive findings, we performed a meta-analysis of studies relating the FGB genetic polymorphis...

journal_title：Genetic testing and molecular biomarkers

authors： Zhang LJ,Li HH,Tao SB,Yuan B,Yan HQ,Chang L,Zhao JH

更新日期：2014-06-01 00:00:00

abstract：: Objective: Pancreatic cancer (PC) is a serious disease with poor outcomes, and its prevalence has been increasing steadily. The circadian rhythm (CR) is involved in multiple physiological events and maintains homeostasis. Alterations in the CR elevate the risk of developin...

journal_title：Genetic testing and molecular biomarkers

authors： Dagmura H,Yiğit S,Nursal AF,Duman E,Gumusay O

更新日期：2020-12-29 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：BACKGROUND:p53 is one of the most widely investigated molecular markers in bladder cancer and its polymorphisms have been related to individual cancer risks. The objective of this study was to explore the association of p53 codon 72 polymorphism with susceptibility and clinicopathologic characteristics of bladder cance...

journal_title：Genetic testing and molecular biomarkers

authors： Zhang R,Chen W,Zhang W,Jiang Q,Liu C,Lin Y,Hu Z,Yu S,Xu G

更新日期：2011-05-01 00:00:00

abstract：OBJECTIVES:Currently, there is a debate regarding the roles of two functional fibrinogen-related variants (rs6050 and rs1800790) and ischemic stroke (IS). MATERIALS AND METHODS:A total of 1402 subjects (834 cases and 568 controls) were genotyped for single-nucleotide polymorphisms rs6050 and rs1800790 with the ligatio...

journal_title：Genetic testing and molecular biomarkers

authors： Zhang J,Yu L,Yin Y,Lu Q,Lei L,Xiao J,Guo J,Zhao J,Wang Y,He G,Xu Y,He L

更新日期：2013-11-01 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：: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：OBJECTIVE:In this study, the aim of prenatal screening was to estimate the carrier frequency of the three mutations 35delG, del (GJB6-D13S1830), and del (GJB6-D13S1854), which are known to be the leading mutations of hereditary hearing loss in European populations. METHODS:We performed a prenatal screening to assess t...

journal_title：Genetic testing and molecular biomarkers

authors： Dragomir C,Stan A,Stefanescu DT,Savu L,Severin E

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：BACKGROUND:Qualitative and quantitative detection of circulating tumor DNA (ctDNA) is a liquid biopsy technology used for early cancer diagnosis. However, the plasma ctDNA content is extremely low, so it is difficult to detect somatic mutations of tumors using conventional sequencing methods. Target region sequencing (...

journal_title：Genetic testing and molecular biomarkers

authors： Chen J,Chen J,He F,Huang Y,Lu S,Fan H,Wang M,Xu R

更新日期：2019-04-01 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：: Aims: The aim of this study was to examine the RNA and protein expression levels and clinical significance of the pore membrane protein 121 kDa (POM121) in lung cancer. Materials and Methods: Paired lung cancer and adjacent non...

journal_title：Genetic testing and molecular biomarkers

authors： Zhang S,Zheng C,Li D,Bei C,Zhang H,Tian R,Song X,Zhu X,Tan S

更新日期：2020-12-01 00:00:00

abstract：BACKGROUND AND AIMS:Interleukin-10 (IL-10) plays a vital part in the pathophysiology of vascular inflammation. Several studies have investigated the potential association between the IL-10-1082A/G polymorphism and the risk of ischemic stroke where the inflammatory process is involved, but the conclusions have been inco...

journal_title：Genetic testing and molecular biomarkers

authors： Liu X,Li Q,Zhu R,He Z

更新日期：2017-06-01 00:00:00

abstract：:Human papillomavirus (HPV) infection is estimated to be the most common sexually transmitted infection and is one of the causal factors in cervical cancer. Understanding the epidemiology of this infection is an important step toward developing strategies for its prevention. Cervical samples from 210 healthy women with...

journal_title：Genetic testing and molecular biomarkers

authors： Asiaf A,Ahmad ST,Zargar MA,Mufti SM,Mir SH

更新日期：2012-08-01 00:00:00

abstract：AIM:One of the main problems concerning repeated spontaneous miscarriage (RSM) is the etiological diagnosis. The relation of thrombophilia to RSM is a matter of debate. In this case-control study, we determined the percentages of three thrombophilic mutations (factor V leiden, prothrombin, and methylenetetrahydrofolate...

journal_title：Genetic testing and molecular biomarkers

authors： Mohamed MA,El Moaty MA,El Kholy AF,Mohamed SA,Ali AI

更新日期：2010-10-01 00:00:00

abstract：OBJECTIVE:To explore the relationship between the endothelial lipase (EL) gene promoter -384A/C polymorphism and acute coronary syndrome (ACS) and lipid status in elderly Uygur patients in Xinjiang. METHODS:The polymerase chain reaction-restriction fragment length polymorphism method was used to detect the EL gene pro...

journal_title：Genetic testing and molecular biomarkers

authors： Huang D,Xie X,Ma YT,Huang Y,Ma X

更新日期：2014-11-01 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: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：BACKGROUND AND AIMS:Published data on the associations between interleukin-4 receptor (IL-4R) gene polymorphisms (Q551R, I50V) and rheumatoid arthritis (RA) risk are controversial. To quantitatively evaluate the relationships, a meta-analysis was performed. METHODS:Studies were identified from the databases of PubMed,...

journal_title：Genetic testing and molecular biomarkers

authors： Peng H,Wang W,Zhou M,Liu CY,Li R,Wen PF,Qiu LJ,Pan HF,Ye DQ

更新日期：2013-10-01 00:00:00

abstract：: Background: Allergic diseases, including asthma, atopic dermatitis, allergic rhinitis, and food allergies, are caused by both environmental and genetic factors. The allergic condition, where genetic factors make up the largest proportion (up to 95%), is asthma. ...

journal_title：Genetic testing and molecular biomarkers

authors： Trueb B,Zhuang L,Villiger PM

更新日期：2020-10-01 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：: 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