Genetic polymorphisms of p53 codon 72 and bladder cancer susceptibility: a hospital-based case-control study.

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: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: To determine the clinical characteristics and genetic cause of Waardenburg syndrome type 1 (WS1) in a Chinese family. Materials and Methods: Evaluations, including history, clinical features, and audiological tests, were ...

journal_title：Genetic testing and molecular biomarkers

authors： Li S,Guo M,Ruan B,Liu Y,Cui X,Han W,Li R

更新日期：2020-05-01 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：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：: 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：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：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：: 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：BACKGROUND AND OBJECTIVE:Essential hypertension (EH) is a complex phenotype that is affected by multiple genetic and environmental factors. Some authors have explored the role of genetic variability of the glutathione S-transferase (GST) enzymes in EH risk with contrasting results. In particular, our previous study inv...

journal_title：Genetic testing and molecular biomarkers

authors： Polimanti R,Piacentini S,Lazzarin N,Re MA,Manfellotto D,Fuciarelli M

更新日期：2012-06-01 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：: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：: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：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：:Cowden syndrome (CS), an autosomal dominant disorder, is associated with germline mutations of the PTEN (phosphatase, tensin homolog, deleted on chromosome TEN) gene. PTEN mutations were linked to several human neoplasms. Clinical diagnosis has been based on Consortium criteria, but detection of mutations in the PTEN ...

journal_title：Genetic testing and molecular biomarkers

authors： Soysal Y,Tate G,Polat C,Polat N,Aktepe F,Sivaci Y,Imirzalioglu N

更新日期：2009-08-01 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：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：: Aims: To investigate the possible roles of the single nucleotide polymorphisms (SNPs) MATN3 (rs77245812) and DOT1L (rs12982744) with susceptibility to knee osteoarthritis (KOA) among mestizos from the northeast region of Mexico. In addition, we analyzed the relationship of...

journal_title：Genetic testing and molecular biomarkers

authors： García-Alvarado FJ,Delgado-Aguirre HA,Rosales-González M,González-Martínez MDR,Ruiz-Flores P,González-Galarza FF,Arellano Perez Vertti RD

更新日期：2020-02-01 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：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：: Background and Aims: Interleukin-15 (IL-15) is a key player in the pathogenesis of celiac disease (CD). We investigated the functional role of IL-15 in the process of epithelial cell phenotypic modification at different stages of CD. Materials and ...

journal_title：Genetic testing and molecular biomarkers

authors： Aghamohamadi E,Kokhaei P,Rostami-Nejad M,Pak F,Rostami K,Moradi A,Pourhoseingholi MA,Chaleshi V,Masotti A,Zali MR

更新日期：2020-08-01 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：:Current classifications of diabetes distinguish between type 1 diabetes (T1D) and type 2 diabetes (T2D). However, recent evidence highlights overlap between T1D and T2D. In a recent study, we have suggested for the first time that STAT4 gene polymorphism is associated with increased risk for the development of T1D in ...

journal_title：Genetic testing and molecular biomarkers

authors： Kofteridis D,Krasoudaki E,Kavousanaki M,Zervou MI,Panierakis C,Boumpas DT,Goulielmos GN

更新日期：2009-04-01 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：: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：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: Heroin use disorder (HUD) is a complex brain disease that includes multiple phenotypes. Heroin acts primarily as a mu-opioid receptor (OPRM1) agonist. The κ opioid receptor 1 (OPRK1) is critically involved in abstinence and remission. Multiple studies confirm t...

journal_title：Genetic testing and molecular biomarkers

authors： Zhang Q,Shi M,Tang H,Zhong H,Lu X

更新日期：2020-01-01 00:00:00

abstract：BACKGROUND:There has been recent recognition that the GSTM1 gene is associated with successful aging and longevity. It has been hypothesized that individuals with a GSTM1 deletion are at a greater risk for developing a plethora of diseases. This study was carried out to investigate the association between the rs574344 ...

journal_title：Genetic testing and molecular biomarkers

authors： Zhang Y,Zhang S,Yan D,Pan H,Liu B,Li T,Wang X,Cai W,Wang B

更新日期：2019-01-01 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：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