Molecular spectrum of alpha-thalassemia mutations in microcytic hypochromic anemia patients from Saudi Arabia.

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：: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：BACKGROUND AND AIMS:Recently, genetic association studies have linked a number of single nucleotide polymorphisms (SNPs) with liver fibrosis risk of hepatitis C. The present study was designed to validate the association of emerging SNPs with development of liver cirrhosis and chronicity in a Chinese population infecte...

journal_title：Genetic testing and molecular biomarkers

authors： Peng L,Guo J,Zhang Z,Liu L,Cao Y,Shi H,Wang J,Wang J,Friedman SL,Sninsky JJ

更新日期：2013-09-01 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：: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：AIM:This study was carried out to evaluate the association of genetic polymorphism -670A>G in the promoter of Fas gene as well as serum biomarkers aspartate aminotransferase (AST) platelet ratio index (APRI) and AST/alanine aminotransferase (ALT) with significant fibrosis and cirrhosis in chronic hepatitis C patients. ...

journal_title：Genetic testing and molecular biomarkers

authors： Deghady A,Abdou A,El-Neanaey WA,Diab I

更新日期：2012-06-01 00:00:00

abstract：:One specific mutation of the GJB2 gene that encodes the connexin 26 protein, the 35delG mutation, has become a major interest among scientists who focus on the genetics of nonsyndromic hearing loss. The mutation accounts for the majority of GJB2 mutations detected in Caucasian populations and represents one of the mos...

journal_title：Genetic testing and molecular biomarkers

authors： Kokotas H,Grigoriadou M,Villamar M,Giannoulia-Karantana A,del Castillo I,Petersen MB

更新日期：2010-04-01 00:00:00

abstract：:A 26-year-old woman with secondary amenorrhea and turneroid stigmata was found to have a 46,X,rea(X)(qter→p11.2::q21.2→qter)/46,X,del(X)(qter→p11.2:) mosaicism in 101 G-banded metaphases (71 and 30, respectively). The mother's karyotype was normal (the father was already deceased). A fully skewed inactivation of both ...

journal_title：Genetic testing and molecular biomarkers

authors： Vásquez-Velásquez AI,Torres-Flores J,Leal CA,Rivera H

更新日期：2011-10-01 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：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：:Matrix metalloproteinases (MMPs) are a family of enzymes that degrade extracellular matrix components and are involved in the development and progression of cancer. Lung cancer is the most commonly diagnosed cancer in Lebanon. This study was undertaken to investigate the association between -1171(5A>6A) polymorphism i...

journal_title：Genetic testing and molecular biomarkers

authors： Fakhoury HM,Noureddine S,Tamim H,Chmaisse H,Makki R

更新日期：2012-08-01 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: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：:Mutations in the gene MLC1 are found in approximately 80% of the patients with the inherited childhood white matter disorder megalencephalic leukoencephalopathy with subcortical cysts (MLC). Genetic linkage studies have not led to the identification of another disease gene. We questioned whether mutations in CLCN2, co...

journal_title：Genetic testing and molecular biomarkers

authors： Scheper GC,van Berkel CG,Leisle L,de Groot KE,Errami A,Jentsch TJ,Van der Knaap MS

更新日期：2010-04-01 00:00:00

abstract：: Aims: Aryl hydrocarbon receptor-interacting protein (AIP) gene mutations have long been associated with apparently sporadic pituitary adenomas (PAs) with a prevalence range of 0-12%. The aim of this study was to evaluate the frequency of germline AIP variations in a large ...

journal_title：Genetic testing and molecular biomarkers

authors： Tuncer FN,Çiftçi Doğanşen S,Serbest E,Tanrıkulu S,Ekici Y,Bilgiç B,Yarman S

更新日期：2018-12-01 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：:Direct evidence of the critical physiological role of connexins (Cxs) has come through the associations of several human diseases with pathogenic mutations in specific Cx genes. Currently, mutations in genes coding for five Cx proteins (Cx26, Cx30, Cx31, Cx32, and Cx43) have been shown to cause sensorineural hearing l...

journal_title：Genetic testing and molecular biomarkers

authors： Ouyang XM,Yan D,Aslan I,Du LL,Tekin M,Liu XZ

更新日期：2011-05-01 00:00:00

abstract：: Background: Numerous studies, ranging from the alleviation of tissue ischemia to the assessment of cancer prognosis, have demonstrated the fundamental biological differences between human umbilical cord blood-derived endothelial progenitor cells (CB-EPCs) and adult periphe...

journal_title：Genetic testing and molecular biomarkers

authors： Wang Q,Chen S,Wu J,Liu D,Jiang N,Wang B,Zhai J,Liu Z

更新日期：2020-09-01 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：:The estrogen receptor β (ERβ) mediates the action of estrogen on metabolism of lipids and lipoprotein. Therefore, its gene is a promising candidate gene for cardiovascular disease. The aim of the present study was to investigate whether the ERβ A1730G polymorphism modifies the metabolic response to hormone replacement...

journal_title：Genetic testing and molecular biomarkers

authors： Darabi M,Ani M,Panjehpour M,Rabbani M,Movahedian A,Zarean E

更新日期：2011-01-01 00:00:00

abstract：:Recent studies have identified genetic markers that may directly influence the risk of the coronary artery disease (CAD), in particular the renin angiotensin system genes. Since there are no existing data for the Tunisian population, we investigated the association between these polymorphisms (angiotensin-converting e...

journal_title：Genetic testing and molecular biomarkers

authors： Abboud N,Ghazouani L,Kaabi B,Ben-Hadj-Khalifa S,Addad F,Marwen M,Almawi WY,Mahjoub T

更新日期：2010-10-01 00:00:00

abstract：:The L1 cell adhesion molecule (L1CAM) is a protein encoded by a gene that has been localized to Xq28, is a member of the immunoglobulin superfamily of neuronal cell adhesion molecules, and plays a role in CNS development and maturation. L1CAM is expressed in neurons and Schwann cells, where it is active in neurite ove...

journal_title：Genetic testing and molecular biomarkers

authors： Wilson PL,Kattman BB,Mulvihill JJ,Li S,Wilkins J,Wagner AF,Goodman JR

更新日期：2009-08-01 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：: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：PURPOSE:This study was undertaken to describe cancer risk assessment practices among primary care providers (PCPs). METHODS:An electronic survey was sent to PCPs affiliated with a single insurance carrier. Demographic and practice characteristics associated with cancer genetic risk assessment and testing activities we...

journal_title：Genetic testing and molecular biomarkers

authors： Vig HS,Armstrong J,Egleston BL,Mazar C,Toscano M,Bradbury AR,Daly MB,Meropol NJ

更新日期：2009-12-01 00:00:00

abstract：:Two polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene, C677T and A1298C, were hypothesized to decrease the risk of acute lymphoblastic leukemia (ALL). Studies examining the associations between these two polymorphisms and ALL susceptibility drew inconsistent results. To obtain a reliable conclusion...

journal_title：Genetic testing and molecular biomarkers

authors： Wang H,Meng L,Zhao L,Wang J,Liu X,Mi W

更新日期：2012-12-01 00:00:00

abstract：AIMS:Increasing evidence links the abnormal expression of microRNAs and ATP-binding cassette subfamily C member 4 (ABCC4) with tumor development and progression, as well as with chemoresistance. Our aims were to determine the therapeutic potential of targeting both miR-124-3p and ABCC4 in breast cancer cells and to det...

journal_title：Genetic testing and molecular biomarkers

authors： Hu D,Li M,Su J,Miao K,Qiu X

更新日期：2019-03-01 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：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：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