abstract：AIMS:To identify potential novel gene mutations in Chinese patients with dyschromatosis symmetrica hereditaria (DSH). METHODS:We enrolled 8 Chinese patients with familial DSH, 5 Chinese patients with sporadic DSH, and 100 randomly selected healthy individuals in this study. The genome of each participant was extracted...

journal_title：Genetic testing and molecular biomarkers

authors： Tang ZL,Wang S,Tu C,Wang T,Ma CW,Liu Y,Xiao SX,Wang XP

更新日期：2018-02-01 00:00:00

abstract：AIMS:Despite the established link between malignant pleural mesothelioma (MPM) and asbestos exposure, genetic risk factors may play a key role in MPM pathogenesis. The rs9939609 polymorphism in the FTO gene has recently been implicated as a risk factor for some types of cancer, such as breast, pancreatic, and prostate ...

journal_title：Genetic testing and molecular biomarkers

authors： Khella MS,Salem AM,Abdel-Rahman O,Saad AS

更新日期：2018-02-01 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：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：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：BACKGROUND:Next-Generation Sequencing (NGS) is the latest approach for preimplantation genetic diagnoses (PGD). AIM:The purpose of this study was to standardize and validate an NGS method for comprehensive chromosome screening and to investigate its applicability to PGD. METHODS:Embryo biopsy, whole-genome amplificat...

journal_title：Genetic testing and molecular biomarkers

authors： Sachdeva K,Discutido R,Albuz F,Almekosh R,Peramo B

更新日期：2017-11-01 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：AIMS:Mannose-binding lectin (MBL) is a protein synthesized by the liver and its immune response is associated with the development of liver fibrosis. We hypothesized that the polymorphisms in the Exon 1 region (52, 54, 57) and promoter regions (-550 H/L, -221 X/Y) of the MBL2 gene were associated with the severity of p...

journal_title：Genetic testing and molecular biomarkers

authors： da Silva Constantino T,de Lima ELS,de Brito LRPB,Silva JL,Coêlho MRCD,Muniz MTC,Silva PCV,Domingues ALC

更新日期：2017-09-01 00:00:00

abstract：BACKGROUND:Although environmental factors play an important role in susceptibility to myocardial infarction (MI), genetic determinants also provide a significant contribution. This study aimed to determine whether or not MI susceptibility is influenced by the SDF1-rs1801157A/G and HHEX-rs1111875 A/G polymorphisms in an...

journal_title：Genetic testing and molecular biomarkers

authors： Mansoori Y,Daraei A,Zendebad Z,Madadizadeh F,Mansoori B,Naghizadeh MM,Darbeheshti F

更新日期：2017-08-01 00:00:00

abstract：AIMS:In this meta-analysis, we evaluated the usefulness of serum thymidine kinase 1 concentration (STK1c) for monitoring the outcome of extensive open surgery in patients with lung cancer. We also compared STK1c between a healthy population and patients with benign and malignant lung tumors to assess its potential valu...

journal_title：Genetic testing and molecular biomarkers

authors： Lou X,Zhou J,Ma H,Xu S,He E,Skog S,Wang H

更新日期：2017-08-01 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：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：OBJECTIVES:Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome, rheumatoid arthritis (RA), ankylosing spondylitis (AS), and seronegative spondyloarthropathy (SPA) are autoimmune diseases of unknown etiology, which share some clinical manifestations in common. Previous family-based investigations su...

journal_title：Genetic testing and molecular biomarkers

authors： Li N,Ma J,Li K,Guo C,Ming L

更新日期：2017-02-01 00:00:00

abstract：AIM:To investigate the association between autism spectrum disorder (ASD) and the phospholipase A2 group IVC (PLA2G4C) and phospholipase A2 group XIIA (PLA2G12A) polymorphisms in the Northeast Han Chinese population. MATERIALS AND METHODS:A total of 68 family trios (children diagnosed with ASD and their unaffected par...

journal_title：Genetic testing and molecular biomarkers

authors： Liu S,Qiu S,Lu Y,Kanu JS,Li R,Bai Y,Zhu X,Lei J,Xu N,Yu Y,Liu Y,Jiang H

更新日期：2016-12-01 00:00:00

abstract：AIM:The purpose of this study was to determine if there is a correlation between telomere length (TL) and mitochondrial DNA copy number (mtDNAcn) in children. METHODS:Leukocyte TL and mtDNAcn were measured by real-time PCR in 98 Mexican children 6-12 years of age from Salamanca, México. RESULTS:A positive association...

journal_title：Genetic testing and molecular biomarkers

authors： Alegría-Torres JA,Velázquez-Villafaña M,López-Gutiérrez JM,Chagoyán-Martínez MM,Rocha-Amador DO,Costilla-Salazar R,García-Torres L

更新日期：2016-11-01 00:00:00

abstract：OBJECTIVE:To examine the associations of methionine synthase (MTR), methionine synthase reductase (MTRR), and methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms with the susceptibility to nonsyndromic cleft lip with or without cleft palate (NSCL/P). METHODS:Between May 2012 and August 2014, 147 NSCL/P pati...

journal_title：Genetic testing and molecular biomarkers

authors： Wang W,Jiao XH,Wang XP,Sun XY,Dong C

更新日期：2016-06-01 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:Receptor activator of nuclear factor-kappa B ligand (RANKL), its receptor activator of nuclear factor-kappa B (RANK), and decoy receptor osteoprotegerin (OPG) are three major proteins of the RANKL/RANK/OPG signaling pathway encoded by TNFSF11, TNFRSF11A, and TNFRSF11B, respectively. This pathway plays a critical r...

journal_title：Genetic testing and molecular biomarkers

authors： Duan P,Tu P,Si L,Hu W,Liu M,Liu J,Xue Y

更新日期：2016-06-01 00:00:00

abstract：AIMS:The genetics of folate metabolism is one of the most significant mechanisms influencing fetal growth and may underlie some cases of unexplained recurrent miscarriage. Reduced folate carrier 1, encoded by the SLC19A1 gene, is a transporter of folate. Folate deficiency and elevated levels of homocysteine could be di...

journal_title：Genetic testing and molecular biomarkers

authors： Mohtaram S,Sheikhha MH,Honarvar N,Sazegari A,Maraghechi N,Feizollahi Z,Ghasemi N

更新日期：2016-05-01 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：OBJECTIVES:We aimed to investigate the influence of ulinastatin (UTI) on the serum levels of C-reactive protein (CRP), interleukin 6 (IL-6), and tumor necrosis factor alpha (TNF-α) in Asian patients with acute pancreatitis (AP) by performance of a meta-analysis. METHODS:Two investigators independently searched 11 data...

journal_title：Genetic testing and molecular biomarkers

authors： Zhang C,Wang Y,Fu W,Zhang W,Wang T,Qin H

更新日期：2016-03-01 00:00:00

abstract：INTRODUCTION:Gasdermin A (GSDMA) and gasdermin B (GSDMB) have been associated with childhood, and to a lesser extent with adult, asthma in many populations. AIMS:In this study, we investigated the association between GSDMA and GSDMB variants and the incidence of adult and childhood asthma among Jordanians. METHODS:Su...

journal_title：Genetic testing and molecular biomarkers

authors： Zihlif M,Obeidat NM,Zihlif N,Mahafza T,Froukh T,Ghanim MT,Beano H,Al-Akhras FM,Naffa R

更新日期：2016-03-01 00:00:00

abstract：BACKGROUND:Neuroblastoma (NB) is a neoplasm of the sympathetic nervous system and the most frequent extra cranial solid tumor of early childhood. These tumors display a wide range of clinical behavior and are characterized by complex chromosomal changes, some of which are associated with distinct clinical phenotypes. W...

journal_title：Genetic testing and molecular biomarkers

authors： Tumer S,Altungoz O,Bagci O,Olgun HN

更新日期：2016-02-01 00:00:00

abstract：OBJECTIVE:To investigate the correlations between three vascular endothelial growth factor 2 (VEGFR2) gene polymorphisms, +1192C>T, +1719T>A, and -604T>C, and deep venous thrombosis (DVT) in Chinese Han population. METHODS:We conducted a case-control study, between September 2009 and September 2012, in a Chinese Han p...

journal_title：Genetic testing and molecular biomarkers

authors： Wang X,Wang HQ,Jian T,Qin WW,Xu F,Xin ZL,Wang YH,Zhang M,Lu HJ

更新日期：2015-12-01 00:00:00

abstract：BACKGROUND:Advances in next-generation sequencing (NGS) technologies are driving a shift from single-gene to multigene panel testing for clinical genetic cancer risk assessment (GCRA). This study explored perceptions, experiences, and challenges with NGS testing for GCRA among U.S. community-based clinicians. METHODS:...

journal_title：Genetic testing and molecular biomarkers

authors： Blazer KR,Nehoray B,Solomon I,Niell-Swiller M,Culver JO,Uman GC,Weitzel JN

更新日期：2015-12-01 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：AIMS:Polymorphisms in DNA damage repair genes may affect DNA repair capacity and modulate breast cancer susceptibility. In this study, we aimed to analyze two polymorphisms for each of the DNA repair genes X-ray repair cross-complementing group 1 (XRCC1) rs25487 and rs1799782 and excision repair cross-complementing gro...

journal_title：Genetic testing and molecular biomarkers

authors： Zhu G,Wang L,Guo H,Lu L,Yang S,Wang T,Guo H,Wang H,Min J,Yang K,Chen X,Liu Y,Wang Z,Su H

更新日期：2015-07-01 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：AIMS:TPOX triallelic genotypic pattern has been described in the setting of forensic and paternity testing but not in bone marrow transplantation (BMT) monitoring for graft engraftment. MATERIALS AND METHODS:A total of 50 cases have been studied using the AmpFLSTR(®) Identifiler™ polymerase chain reaction amplificatio...

journal_title：Genetic testing and molecular biomarkers

authors： Hoteit R,Khalek RA,Antar A,Mahfouz RA

更新日期：2015-05-01 00:00:00

abstract：:Obsessive compulsive disorder (OCD) is a psychiatric disorder characterized by obsessive ideas and compulsive behaviors. Genetic studies have centered on candidate genes involved in OCD etiology related to serotonergic and dopaminergic systems. In this study, the relationship between cathechol-O-methyltransferase (COM...

journal_title：Genetic testing and molecular biomarkers

authors： Cengiz M,Okutan SN,Bayoglu B,Sakalli Kani A,Bayar R,Kocabasoglu N

更新日期：2015-05-01 00:00:00

abstract：:To evaluate the associations between four single-nucleotide polymorphisms (SNPs) in CYP4A11 and CYP4F2 and ischemic stroke (IS), and between these variants and atherothrombotic events after stroke. IS patients (n=396) and controls (n=378) were genotyped for two CYP4A11 SNPs (rs2269231 and rs9333025) and two CYP4F2 SNP...

journal_title：Genetic testing and molecular biomarkers

authors： Zhang B,Yi X,Wang C,Liao D,Lin J,Chi L

更新日期：2015-05-01 00:00:00

abstract：:Previous studies have demonstrated that miR-34 family members are abnormally expressed in gastric cancer. Overexpression of the miR-34 family suppresses gastric carcinogenesis, whereas downregulation of the miR-34 family promotes tumorigenesis. p53 can bind to the promoter region of miR-34b/c, leading to an increase o...

journal_title：Genetic testing and molecular biomarkers

authors： Pan XM,Sun RF,Li ZH,Guo XM,Qin HJ,Gao LB

更新日期：2015-04-01 00:00:00

abstract：CONTEXT:Dravidians are the predominant population residing in South India with a diverse genetic structure. Considering various genetic discoveries taking place today, it is evident that deletions in the AZFc region are the most common cause of severe spermatogenic failure (SSF) in various populations studied. However,...

journal_title：Genetic testing and molecular biomarkers

authors： Vijesh VV,Nambiar V,Mohammed SI,Sukumaran S,Suganthi R

更新日期：2015-03-01 00:00:00

abstract：OBJECTIVES:Genotyping of single-nucleotide polymorphisms (SNPs) has been applied in various genetic contexts. Tetra-primer amplification refractory mutation system (ARMS) polymerase chain reaction (PCR) is reported as a prominent assay for SNP genotyping. However, there were published data that may question the reliabi...

journal_title：Genetic testing and molecular biomarkers

authors： Mesrian Tanha H,Mojtabavi Naeini M,Rahgozar S,Rasa SM,Vallian S

更新日期：2015-03-01 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：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 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：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：AIMS:We assessed the validity of a next-generation sequencing protocol using in-solution hybridization-based enrichment to identify NF1 mutations for the diagnosis of 86 patients with a prototypic genetic syndrome, neurofibromatosis type 1. In addition, other causative genes for classic genetic syndromes were set as th...

journal_title：Genetic testing and molecular biomarkers

authors： Maruoka R,Takenouchi T,Torii C,Shimizu A,Misu K,Higasa K,Matsuda F,Ota A,Tanito K,Kuramochi A,Arima Y,Otsuka F,Yoshida Y,Moriyama K,Niimura M,Saya H,Kosaki K

更新日期：2014-11-01 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