DEFB4A Promoter Polymorphism Is Associated with Chronic Periodontitis: A Case-Control Study.

abstract：AIMS:Inflammatory markers play an important role in the development of diseases related to metabolic syndrome, such as type 2 diabetes (T2D) and coronary artery disease (CAD). The present study evaluates the association of -2518A>G polymorphism in the monocyte chemoattractant protein-1 (MCP-1) gene with T2D and CAD. R...

journal_title：Genetic testing and molecular biomarkers

authors： Kaur R,Matharoo K,Arora P,Bhanwer AJ

更新日期：2013-10-01 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：: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：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：: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：AIM:To describe the molecular spectrum of alpha-thalassemia molecular defects in a population sample of Saudi Arabian patients from the eastern province. METHODS:DNA was extracted from 41 patients suffering from microcytic, hypochromic anemia. We screened the alpha-globin gene for deletional and nondeletional mutation...

journal_title：Genetic testing and molecular biomarkers

authors： Hellani A,Fadel E,El-Sadadi S,El-Sweilam H,El-Dawood A,Abu-Amero KK

更新日期：2009-04-01 00:00:00

abstract：: Background: Studies investigating the relationship between polymorphisms of the sex hormone-binding globulin (SHBG) gene and polycystic ovary syndrome (PCOS) have reported differing results. Therefore, the present meta-analysis was performed to clarify the effects of the S...

journal_title：Genetic testing and molecular biomarkers

authors： Liao X,Cao S

更新日期：2020-08-01 00:00:00

abstract：:By virtue of the functional role of the mitochondrion in energy and reactive oxygen species production, mutations in mitochondrial DNA (mtDNA) are potential candidates for cardiovascular-related disorders. Further, the mtDNA is extremely polymorphic and several diagnostic single-nucleotide polymorphisms have been used...

journal_title：Genetic testing and molecular biomarkers

authors： Abu-Amero KK,Al-Boudari OM,Mousa A,Gonzalez AM,Larruga JM,Cabrera VM,Dzimiri N

更新日期：2010-02-01 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：: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：: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: Single nucleotide polymorphisms (SNPs) within precursor microRNAs (miRNAs) can affect the expression of the miRNAs and may be involved in the pathogenesis of pulmonary tuberculosis (PTB) and extrapulmonary tuberculosis (EPTB). Aims: ...

journal_title：Genetic testing and molecular biomarkers

authors： Chen WW,Wan B,Zhang R,Cao W,Liang L,Zhao YL,Chen J,Yue J

更新日期：2019-07-01 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：OBJECTIVE:Diabetic nephropathy (DN) is a serious complication of diabetes mellitus. We aimed to evaluate the interleukin (IL)-6 gene polymorphisms in type 2 DN and control subjects. MATERIALS AND METHODS:The patients selected from the Department of Endocrinology and Metabolism Diseases included 43 type 2 diabetes mell...

journal_title：Genetic testing and molecular biomarkers

authors： Karadeniz M,Erdogan M,Berdeli A,Yilmaz C

更新日期：2014-01-01 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：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：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：: 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：: 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：: Aims: Split-hand/split-foot malformation (SHFM) is a developmental and congenital limb malformation characterized by variable degrees of medial clefting or absence of one or more digits in hands and/or feet. The aim of this study was to identify the underlying cause of thr...

journal_title：Genetic testing and molecular biomarkers

authors： Bilal M,Hayat A,Umair M,Ullah A,Khawaja S,Malik E,Burmeister M,Bibi N,Umm-E-Kalsoom,Memon MI,Basit S,Ahmad W,Khan B

更新日期：2020-09-01 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:Dopamine D2 receptor (DRD2) is thought to be critical in regulating the dopaminergic pathway in the brain, which is known to be important in the etiology of schizophrenia. It is, therefore, not surprising that most antipsychotic medication acts on DRD2. DRD2 is widely expressed in the brain; levels are reduc...

journal_title：Genetic testing and molecular biomarkers

authors： Voisey J,Swagell CD,Hughes IP,Lawford BR,Young RM,Morris CP

更新日期：2012-02-01 00:00:00

abstract：:Impaired energy homeostasis and low-grade inflammation have been related to components of the metabolic syndrome (MetS) such as dyslipidemia, obesity, and insulin resistance. Single-nucleotide polymorphisms in the genes encoding for IL-6 (g.-634G>C; c.174G>C), TNFα (g.-308G>A), methylenetetrahydrofolate reductase (MTH...

journal_title：Genetic testing and molecular biomarkers

authors： Vasilopoulos Y,Sarafidou T,Bagiatis V,Skriapa L,Goutzelas Y,Pervanidou P,Lazopoulou N,Chrousos GP,Mamuris Z

更新日期：2011-09-01 00:00:00

abstract：:Sarcoidosis is a complex disease with autoimmune basis and still unknown etiology. We have screened for mutations in the cystic fibrosis conductance regulator (CFTR) gene and genotyped single-nucleotide polymorphisms in the tumor necrosis factor (TNF), interferon alpha-10 (IFNA10), IFNA17, and interferon gamma (IFNG) ...

journal_title：Genetic testing and molecular biomarkers

authors： Makrythanasis P,Tzetis M,Rapti A,Papatheodorou A,Tsipi M,Kitsiou S,Tsiamouri A,Poulou M,Roussos C,Kanavakis E

更新日期：2010-08-01 00:00:00

abstract：: Aim: The aim of this study was to report a novel POU Class 3 Homeobox 4 (POU3F4) variant and to provide further guidance on genetic counseling for incomplete partition (IP) type III families in the Korean population by showing two new contrasting cases in terms of genotype...

journal_title：Genetic testing and molecular biomarkers

authors： Jang JH,Oh J,Han JH,Park HR,Kim BJ,Lee S,Kim MY,Lee S,Oh DY,Choung YH,Choi BY

更新日期：2019-06-01 00:00:00

abstract：AIMS:Serotonin has been related to appetite and body weight control. The aim of this study was to investigate a possible association of the -1438 /A promoter polymorphism of the serotonin 2A receptor (5HT2AR) gene with obesity-related variables and response to sibutramine. PATIENTS/METHODS:We examined the potential im...

journal_title：Genetic testing and molecular biomarkers

authors： Papazoglou D,Restas E,Papanas N,Papatheodorou K,Babouris C,Glaros D,Antonoglou C,Maltezos E

更新日期：2012-02-01 00:00:00

abstract：: Aims: Pathogenic variants in mitochondrial DNA are known to be associated with sensorineural hearing loss (SNHL) and aminoglycoside-induced HL. Among them, the m.1555A>G mutation is the most common. Thus, a rapid and easy companion diagnostic method for this mutation would...

journal_title：Genetic testing and molecular biomarkers

authors： Isaka Y,Nishio SY,Hishinuma E,Hiratsuka M,Usami SI

更新日期：2021-01-01 00:00:00

abstract：: Aims: This meta-analysis evaluated the value of using Epstein-Barr virus (EBV) DNA titers as a predictive factor in assessing the clinical course of nasopharyngeal carcinoma (NPC) patients in Southeast Asia. Methods: A systemat...

journal_title：Genetic testing and molecular biomarkers

authors： Xie X,Ren Y,Wang K,Yi B

更新日期：2019-07-01 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：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