Distribution of killer cell immunoglobulin-like receptor (KIR) genotypes in patients with familial Mediterranean fever.

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：AIMS:We assessed the validity of a next-generation sequencing protocol using in-solution hybridization-based enrichment to identify NF1 mutations for the diagnosis of 86 patients with a prototypic genetic syndrome, neurofibromatosis type 1. In addition, other causative genes for classic genetic syndromes were set as th...

journal_title：Genetic testing and molecular biomarkers

authors： Maruoka R,Takenouchi T,Torii C,Shimizu A,Misu K,Higasa K,Matsuda F,Ota A,Tanito K,Kuramochi A,Arima Y,Otsuka F,Yoshida Y,Moriyama K,Niimura M,Saya H,Kosaki K

更新日期：2014-11-01 00:00:00

abstract：: Aims: The selenoprotein S (SELS) gene has been suggested to be an important factor in the development of multiple diseases, including gastric cancer (GC) and colorectal cancer (CRC). However, the association between the SELS gene rs34713741 polymorphism and risk of GC and ...

journal_title：Genetic testing and molecular biomarkers

authors： Li J,Zhu Y,Zhou Y,Jiang H,Chen Z,Lu B,Shen X

更新日期：2020-12-01 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：: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：: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：AIM:To investigate the association between autism spectrum disorder (ASD) and the phospholipase A2 group IVC (PLA2G4C) and phospholipase A2 group XIIA (PLA2G12A) polymorphisms in the Northeast Han Chinese population. MATERIALS AND METHODS:A total of 68 family trios (children diagnosed with ASD and their unaffected par...

journal_title：Genetic testing and molecular biomarkers

authors： Liu S,Qiu S,Lu Y,Kanu JS,Li R,Bai Y,Zhu X,Lei J,Xu N,Yu Y,Liu Y,Jiang H

更新日期：2016-12-01 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：: 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：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：BACKGROUND:The distribution of polymorphisms in the CYP2D6 and CYP2C19 genes allows inferring the potential risk for specific adverse drug reactions and lack of therapeutic effects in humans. This variability shows differences among human populations. The aim of this study was to analyze single-nucleotide polymorphisms...

journal_title：Genetic testing and molecular biomarkers

authors： Salazar-Flores J,Torres-Reyes LA,Martínez-Cortés G,Rubi-Castellanos R,Sosa-Macías M,Muñoz-Valle JF,González-González C,Ramírez A,Román R,Méndez JL,Barrera A,Torres A,Medina R,Rangel-Villalobos H

更新日期：2012-09-01 00:00:00

abstract：: Background: Human β-defensin-2 is an antimicrobial peptide with antibiotic properties secreted by the oral cavity to protect the host against microbial attack. The inter-individual differences in defensin expression profiles due to genetic variation might be partly respons...

journal_title：Genetic testing and molecular biomarkers

authors： Kurt-Bayrakdar S,Ozturk A,Kara N

更新日期：2020-03-01 00:00:00

abstract：:The lamin A/C proteins are major structural and functional components of the nuclear lamina. Mutations identified in LMNA encoding lamin A/C belong to the most frequently described causes for inherited forms of dilated cardiomyopathy (DCM). To elucidate the clinical characteristics of LMNA mutation carriers we perform...

journal_title：Genetic testing and molecular biomarkers

authors： Stallmeyer B,Koopmann M,Schulze-Bahr E

更新日期：2012-06-01 00:00:00

abstract：AIMS:Despite the established link between malignant pleural mesothelioma (MPM) and asbestos exposure, genetic risk factors may play a key role in MPM pathogenesis. The rs9939609 polymorphism in the FTO gene has recently been implicated as a risk factor for some types of cancer, such as breast, pancreatic, and prostate ...

journal_title：Genetic testing and molecular biomarkers

authors： Khella MS,Salem AM,Abdel-Rahman O,Saad AS

更新日期：2018-02-01 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：: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：:To evaluate the associations between four single-nucleotide polymorphisms (SNPs) in CYP4A11 and CYP4F2 and ischemic stroke (IS), and between these variants and atherothrombotic events after stroke. IS patients (n=396) and controls (n=378) were genotyped for two CYP4A11 SNPs (rs2269231 and rs9333025) and two CYP4F2 SNP...

journal_title：Genetic testing and molecular biomarkers

authors： Zhang B,Yi X,Wang C,Liao D,Lin J,Chi L

更新日期：2015-05-01 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：INTRODUCTION:manipur, one of the northeastern states of India, lies on the ancient silk route and serves as a meeting point between the Southeast Asia and South Asia. AIMS:this study was conducted to understand and estimate the genomic diversity among various population groups of Manipur, with a major goal of getting ...

journal_title：Genetic testing and molecular biomarkers

authors： Meitei KS,Meitei SY,Asghar M,Achoubi N,Murry B,Mondal PR,Sachdeva MP,Saraswathy KN

更新日期：2010-12-01 00:00:00

abstract：: Aims: The aim of this study was to summarize the currently available evidence on the associations between the IL-10-1082G/A, IL-10-592A/C, and IL-10-819G/A polymorphisms and susceptibility to atopic dermatitis (AD). Materials and Methods: ...

journal_title：Genetic testing and molecular biomarkers

authors： Zhao J,Chen ZY,Li LF

更新日期：2019-05-01 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：AIM:The present study was undertaken to investigate a length polymorphism of (GT)n repeats of the heme oxygenase-1 (HMOX-1) gene and its association with serum bilirubin levels in apparently healthy adults. METHODS:A total of 211 individuals (normal hematology and liver function test) with bilirubin levels of 1.7 to 2...

journal_title：Genetic testing and molecular biomarkers

authors： D'Silva S,Borse V,Colah RB,Ghosh K,Mukherjee MB

更新日期：2011-04-01 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：: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: 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：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：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：: 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：: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：: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