Serotonin receptor 2A -1438G/A promoter polymorphism in relation to obesity and response to sibutramine.

abstract：:Tay-Sachs disease is a rare autosomal recessive neurodegenerative disorder that results from mutations in the HEXA gene, leading to β-hexosaminidase A (HexA) α subunit deficiency. An unusual variant of Tay-Sachs disease is known as the B1 variant. Previous studies indicated that, in northern Portugal, this is not only...

journal_title：Genetic testing and molecular biomarkers

authors： Ribeiro D,Duarte AJ,Amaral O

更新日期：2011-03-01 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: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：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: 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：METHODS:The studied group comprises 124 patients with acute myocardial infarction on dual antiplatelet therapy with acetylsalicylic acid (ASA) and thienopyridines. Antiplatelet therapy was monitored by platelet-rich plasma light transmittance aggregometry (LTA) using the APACT 4004 analyzer (Helena Laboratories) and by...

journal_title：Genetic testing and molecular biomarkers

authors： Ulehlova J,Slavik L,Kucerova J,Krcova V,Vaclavik J,Indrak K

更新日期：2014-09-01 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：: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：: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：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：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：BACKGROUND/AIM:several studies have looked at the potential link between angiotensin-converting enzyme (ACE) insertion/deletion (I/D) polymorphism and the risk of hypertension and have shown that the DD polymorphism may be associated with a higher prevalence of hypertension. Our objective was to assess for possible ass...

journal_title：Genetic testing and molecular biomarkers

authors： Akra-Ismail M,Makki RF,Chmaisse HN,Kazma A,Zgheib NK

更新日期：2010-12-01 00:00:00

abstract：: Aims: Circadian rhythm genes including Period 3 (Per3) are associated with major depressive disorder (MDD) and have an effect on the patient's response to selective serotonin reuptake inhibitor (SSRI) antidepressants. The aim of this study was to identify possible associat...

journal_title：Genetic testing and molecular biomarkers

authors： Xu Y,Ma H,Zhao T,Wen D,Wen Y,Qiao D,Liu Z

更新日期：2019-12-01 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：:Despite the knowledge of many genetic alterations present in ovarian cancer, the complexity of this disease precludes placing its biology into a simple conceptual framework. Lysyl oxidase (LOX) is an extracellular matrix enzyme that catalyzes the cross-linking of collagens or elastin in the extracellular compartment. ...

journal_title：Genetic testing and molecular biomarkers

authors： Wu J,Cai C,Tong D,Hou H

更新日期：2012-08-01 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：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: Diabetic peripheral neuropathy (DPN) affects nearly 50% of the diabetic population. Advanced glycation end products, measured through skin autofluorescence (SAF), play an important role in the diagnosis and prevention of DPN. To date, however, no relevant study...

journal_title：Genetic testing and molecular biomarkers

authors： Wan L,Qin G,Yan W,Sun T

更新日期：2019-06-01 00:00:00

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：: 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：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：: 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: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：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: 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：:Molecular characterization of 27 cytogenetically confirmed Indian XY females was attempted by screening selected regions of candidate genes namely SRY (HMG box) and the ligand-binding domain of androgen receptor (AR) (Exons 5-8). Three of the index cases showed sequence variations in exons of the AR gene: a deletion m...

journal_title：Genetic testing and molecular biomarkers

authors： Vasu VR,Saranya B,Jayashankar M,Munirajan AK,Santhiya ST

更新日期：2012-07-01 00:00:00

abstract：BACKGROUND:Previous studies have found an association between the SNP rs143383 + 104T/C in the growth differentiation factor 5 (GDF5) gene and the risk of developing knee osteoarthritis (KOA) in various populations worldwide. OBJECTIVE:To discover if there is an association between the SNP rs143383 + 104T/C, in the GD...

journal_title：Genetic testing and molecular biomarkers

authors： García-Alvarado F,Rosales-González M,Arellano-Pérez-Vertti D,Espino-Silva P,Meza-Velazquez M,Ruiz-Flores P

更新日期：2018-08-01 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: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：:The aim of the study was to determine (1) the frequency and type of mutations in the coding region of the GJB2 gene (sequencing), (2) the frequency of splice site mutation IVS1 + 1G > A in the GJB2 gene (multiplex ligation-dependent probe amplification analysis), (3) possible copy number changes in the GJB2, GJB3, GJB...

journal_title：Genetic testing and molecular biomarkers

authors： Sansović I,Knezević J,Musani V,Seeman P,Barisić I,Pavelić J

更新日期：2009-10-01 00:00:00