Identification of new genes downregulated in prostate cancer and investigation of their effects on prognosis.

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：AIMS:To verify whether dystrophin gene mutations among Chinese patients feature different types and frequencies from other populations. METHODS:Multiplex ligation-dependent probe amplification (MLPA) in combination with multiplex PCR (mPCR) and/or short tandem repeat (STR)-based linkage analysis were applied in a larg...

journal_title：Genetic testing and molecular biomarkers

authors： Wang Q,Li-Ling J,Lin C,Wu Y,Sun K,Ma H,Jin C

更新日期：2009-02-01 00:00:00

abstract：: Background and Purpose: Mucopolysaccharidosis 1 (MPS1) is an autosomal recessive disorder of a lysosomal enzyme called alpha-l-iduronidase caused by mutations in the IDUA gene. This enzyme is responsible for the degradation of the mucopolysaccharides, heparan sulfate, and ...

journal_title：Genetic testing and molecular biomarkers

authors： Kamranjam M,Alaei M

更新日期：2019-08-01 00:00:00

abstract：:Leptin is a key hormone of weight regulation that modulates food intake. Since the elaboration of the leptin action mechanism, several studies tried to establish the relationship between obesity and the common polymorphisms of leptin (LEP) and leptin receptor (LEPR) genes, but results were controversial. We studied th...

journal_title：Genetic testing and molecular biomarkers

authors： Boumaiza I,Omezzine A,Rejeb J,Rebhi L,Ouedrani A,Ben Rejeb N,Nabli N,Ben Abdelaziz A,Bouslama A

更新日期：2012-07-01 00:00:00

abstract：:Hereditary hemochromatosis is an inherited disorder of iron metabolism, characterized by high absorption of iron by the gastrointestinal tract leading to a toxic accumulation of iron in various organs and impaired organ function. Three variants in the HFE gene (p.C282Y, p.H63D, and p.S65C) are commonly associated with...

journal_title：Genetic testing and molecular biomarkers

authors： Sumner K,Hubley L,Pont-Kingdon G,Mitchell S,Wayman T,Wilson A,Meadows C,Elenitoba-Johnson K,Pattison D,Dobrowolski S,Best H,Lyon E

更新日期：2012-07-01 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：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：BACKGROUND AND AIMS:Interleukin-10 (IL-10) plays a vital part in the pathophysiology of vascular inflammation. Several studies have investigated the potential association between the IL-10-1082A/G polymorphism and the risk of ischemic stroke where the inflammatory process is involved, but the conclusions have been inco...

journal_title：Genetic testing and molecular biomarkers

authors： Liu X,Li Q,Zhu R,He Z

更新日期：2017-06-01 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：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：: Background: Recent discoveries indicate that the enzyme fatty acid 2-hydroxylase (FA2H) is associated with biological behavior and can be used for outcome prediction in several types of cancers. Such relevancy, however, between FA2H and ovarian cancer is not clear. Therefo...

journal_title：Genetic testing and molecular biomarkers

authors： Qi T,Wu D,Duan Z,Chen C,Qiu J,Kang J

更新日期：2020-10-01 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：: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：BACKGROUND:There has been recent recognition that the GSTM1 gene is associated with successful aging and longevity. It has been hypothesized that individuals with a GSTM1 deletion are at a greater risk for developing a plethora of diseases. This study was carried out to investigate the association between the rs574344 ...

journal_title：Genetic testing and molecular biomarkers

authors： Zhang Y,Zhang S,Yan D,Pan H,Liu B,Li T,Wang X,Cai W,Wang B

更新日期：2019-01-01 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：CONTEXT:Dravidians are the predominant population residing in South India with a diverse genetic structure. Considering various genetic discoveries taking place today, it is evident that deletions in the AZFc region are the most common cause of severe spermatogenic failure (SSF) in various populations studied. However,...

journal_title：Genetic testing and molecular biomarkers

authors： Vijesh VV,Nambiar V,Mohammed SI,Sukumaran S,Suganthi R

更新日期：2015-03-01 00:00:00

abstract：AIM:To assess the use of mitochondrial DNA (mtDNA) content as a noninvasive molecular biomarker in hepatitis C virus-related hepatocellular carcinoma (HCV-HCC). MATERIALS AND METHODS:A total of 135 participants were enrolled in the study. Equal numbers of subjects were enrolled in each of three clinically defined grou...

journal_title：Genetic testing and molecular biomarkers

authors： Hashad DI,Elyamany AS,Salem PE

更新日期：2015-11-01 00:00:00

abstract：BACKGROUND:Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal-dominant inherited disease. This study was carried out to investigate the genetic and functional changes within the FOXL2 gene in two Chinese families with BPES. MATERIALS AND METHODS:DNA was extracted from the peripheral blood ...

journal_title：Genetic testing and molecular biomarkers

authors： Li H,Gu Y

更新日期：2018-10-01 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：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：AIMS:Deregulation of the long noncoding RNA IRAIN has been identified in several cancers. However, the expression pattern of IRAIN and its clinical implication in acute myeloid leukemia (AML) are unknown. The purpose of this study was to investigate the expression status of IRAIN and its clinical significance in non-M3...

journal_title：Genetic testing and molecular biomarkers

authors： Pashaiefar H,Izadifard M,Yaghmaie M,Montazeri M,Gheisari E,Ahmadvand M,Momeny M,Ghaffari SH,Kasaeian A,Alimoghaddam K,Ghavamzadeh A

更新日期：2018-05-01 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

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：: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：: 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：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：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：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:To identify potential novel gene mutations in Chinese patients with dyschromatosis symmetrica hereditaria (DSH). METHODS:We enrolled 8 Chinese patients with familial DSH, 5 Chinese patients with sporadic DSH, and 100 randomly selected healthy individuals in this study. The genome of each participant was extracted...

journal_title：Genetic testing and molecular biomarkers

authors： Tang ZL,Wang S,Tu C,Wang T,Ma CW,Liu Y,Xiao SX,Wang XP

更新日期：2018-02-01 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