Association of MMP3-1171(5A>6A) polymorphism with lung cancer in Lebanon.

abstract：:P-glycoprotein (P-gp) is present in various tissue cells, required for the pumping of lipophilic drugs (including glucocorticoids) out of cells. We hypothesized that polymorphisms in the P-gp encoding gene (multidrug-resistant transporter-1 [MDR1]) are related to individual differences in glucocorticoid sensitivity an...

journal_title：Genetic testing and molecular biomarkers

authors： Xue Y,Zhao ZQ,Hong D,Zhang HJ,Chen HX,Fan SW

更新日期：2014-03-01 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：:Next-generation sequencing has changed the face of cancer immunotherapy research by making tumor-specific cancer vaccines a reality. Whole exome sequencing and RNA sequencing combined with bioinformatic pipelines allow the prediction of neoantigen targets for cancer vaccines. In this review, we discuss the preclinical...

journal_title：Genetic testing and molecular biomarkers

authors： Lancaster EM,Jablons D,Kratz JR

更新日期：2020-02-01 00:00:00

abstract：:Mutations in GJB2 gene are the most common cause of nonsyndromic sensorineural recessive hearing loss. One specific mutation, c.35delG, is the most frequent in the majority of Caucasian populations and may account for up to 70% of all GJB2 mutations. However, 10-40% of the patients carry only one pathogenic mutation i...

journal_title：Genetic testing and molecular biomarkers

authors： da Silva-Costa SM,Coeli FB,Lincoln-de-Carvalho CR,Marques-de-Faria AP,Kurc M,Pereira T,Pomilio MC,Sartorato EL

更新日期：2009-10-01 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：:Founder mutations, particularly 35delG in the GJB2 gene, have to a large extent contributed to the high frequency of autosomal recessive nonsyndromic hearing loss (ARNSHL). Mutations in transmembrane channel-like gene 1 (TMC1) cause ARNSHL. The p.R34X mutation is the most frequent known mutation in the TMC1 gene. To s...

journal_title：Genetic testing and molecular biomarkers

authors： Ben Saïd M,Hmani-Aifa M,Amar I,Baig SM,Mustapha M,Delmaghani S,Tlili A,Ghorbel A,Ayadi H,Van Camp G,Smith RJ,Tekin M,Masmoudi S

更新日期：2010-06-01 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：:Prostate cancer is the most common noncutaneous malignant neoplasm in men in the Western countries. It is well established that genetic and epigenetic alterations are common events in prostate cancer, which may lead to aberrant expression of critical genes. Most of the studies are focused on the overexpressed or dupli...

journal_title：Genetic testing and molecular biomarkers

authors： Varisli L

更新日期：2013-07-01 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：BACKGROUND AND AIMS:Published data on the associations between interleukin-4 receptor (IL-4R) gene polymorphisms (Q551R, I50V) and rheumatoid arthritis (RA) risk are controversial. To quantitatively evaluate the relationships, a meta-analysis was performed. METHODS:Studies were identified from the databases of PubMed,...

journal_title：Genetic testing and molecular biomarkers

authors： Peng H,Wang W,Zhou M,Liu CY,Li R,Wen PF,Qiu LJ,Pan HF,Ye DQ

更新日期：2013-10-01 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：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：BACKGROUND:p53 is one of the most widely investigated molecular markers in bladder cancer and its polymorphisms have been related to individual cancer risks. The objective of this study was to explore the association of p53 codon 72 polymorphism with susceptibility and clinicopathologic characteristics of bladder cance...

journal_title：Genetic testing and molecular biomarkers

authors： Zhang R,Chen W,Zhang W,Jiang Q,Liu C,Lin Y,Hu Z,Yu S,Xu G

更新日期：2011-05-01 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：:The identities and frequencies of MYO15A mutations associated with hearing loss in different populations remained largely unknown. We screened the MYO15A gene for mutations in 104 unrelated multiplex and consanguineous Turkish families with autosomal recessive nonsyndromic sensorineural hearing loss using autozygosity...

journal_title：Genetic testing and molecular biomarkers

authors： Cengiz FB,Duman D,Sirmaci A,Tokgöz-Yilmaz S,Erbek S,Oztürkmen-Akay H,Incesulu A,Edwards YJ,Ozdag H,Liu XZ,Tekin M

更新日期：2010-08-01 00:00:00

abstract：AIMS:Surviving under a stressful environment may be a real challenge. Individuals (and their offspring) with accumulated genetic variation in their DNA repair genes may have a higher probability to survive under these conditions. A partially unstable DNA repair system raises the mutagenesis rate and the probability for...

journal_title：Genetic testing and molecular biomarkers

authors： Voskarides K

更新日期：2014-08-01 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: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：:Genotypic profiles of the natural killer cell immunoglobulin-like receptors (KIR) have been reported to vary among different ethnic groups and variable clinical entities. This study represents the first report on its distribution among patients with familial Mediterranean fever (FMF). We studied 56 unrelated Lebanese ...

journal_title：Genetic testing and molecular biomarkers

authors： Mahfouz RA,Sabbagh AS,Shamseddine W,Bazarbachi A,Ibrahim G,Arayssi T,El Hajj N,Rayes R,Zaatari GS,Khazen G,Khalaf RA

更新日期：2009-02-01 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：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：: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：: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：AIMS:Efficient genotyping methods for many biologically significant repeat genetic polymorphisms, particularly in GC-rich regions of the genome, are limited. In particular, a short tandem repeat polymorphism [GGCGGG] in the promoter region of ALOX5 has been implicated as an important marker for inflammatory diseases. W...

journal_title：Genetic testing and molecular biomarkers

authors： Schentrup AM,Allayee H,Lima JJ,Johnson JA,Langaee TY

更新日期：2009-06-01 00:00:00

abstract：: Aims: To investigate the expression levels of serum interleukin-17 (IL-17) and interleukin-27 (IL-27) in children with bronchial asthma and to correlate these expression levels with lung function indicators. Methods: A total of...

journal_title：Genetic testing and molecular biomarkers

authors： Liu Z,Niu C,Ying L,Zhang Q,Long M,Fu Z

更新日期：2020-01-01 00:00:00

abstract：BACKGROUND:Urothelial carcinoma (UC) is the most common histologic subtype of bladder cancer. The administration of mitomycin C (MMC) into the bladder after transurethral resection of the bladder tumor (TURBT) is a common treatment strategy for preventing recurrence after surgery. We previously applied hydrostatic pres...

journal_title：Genetic testing and molecular biomarkers

authors： Chen SK,Chung CA,Cheng YC,Huang CJ,Chen WY,Ruaan RC,Li C,Tsao CW,Hu WW,Chien CC

更新日期：2014-06-01 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：: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：: 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: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