Detection of non-DeltaGT NCF-1 mutations in chronic granulomatous disease.

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：: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：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：: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：BACKGROUND:Cytokines are a group of polypeptides with an important role in the inflammatory response. It has been suggested that certain polymorphisms located in several cytokine genes are associated with different diseases. The aim of the present study was to establish the gene frequency of 13 polymorphisms of the IL-...

journal_title：Genetic testing and molecular biomarkers

authors： Vargas-Alarcon G,Ramírez-Bello J,Juárez-Cedillo T,Ramírez-Fuentes S,Carrillo-Sánchez S,Fragoso JM

更新日期：2012-10-01 00:00:00

abstract：:Diabetic nephropathy is the leading cause of end-stage renal disease in the world. The cause of diabetic nephropathy seems to be multifactorial, and about one-third of patients with diabetes eventually develop this complication. The gene encoding ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) is a candidat...

journal_title：Genetic testing and molecular biomarkers

authors： Lin CC,Wu CT,Wu LS

更新日期：2011-04-01 00:00:00

abstract：PURPOSE:We describe a real-time polymerase chain reaction (PCR) protocol based on the fluorescent molecule SYBR Green chemistry, for a low- to medium-throughput analysis of Y-chromosome microdeletions, optimized according to the European guidelines and aimed at making the protocol faster, avoiding post-PCR processing, ...

journal_title：Genetic testing and molecular biomarkers

authors： Segat L,Padovan L,Doc D,Petix V,Morgutti M,Crovella S,Ricci G

更新日期：2012-12-01 00:00:00

abstract：AIMS:Polymorphisms in DNA damage repair genes may affect DNA repair capacity and modulate breast cancer susceptibility. In this study, we aimed to analyze two polymorphisms for each of the DNA repair genes X-ray repair cross-complementing group 1 (XRCC1) rs25487 and rs1799782 and excision repair cross-complementing gro...

journal_title：Genetic testing and molecular biomarkers

authors： Zhu G,Wang L,Guo H,Lu L,Yang S,Wang T,Guo H,Wang H,Min J,Yang K,Chen X,Liu Y,Wang Z,Su H

更新日期：2015-07-01 00:00:00

abstract：:Human papillomavirus (HPV) infection is estimated to be the most common sexually transmitted infection and is one of the causal factors in cervical cancer. Understanding the epidemiology of this infection is an important step toward developing strategies for its prevention. Cervical samples from 210 healthy women with...

journal_title：Genetic testing and molecular biomarkers

authors： Asiaf A,Ahmad ST,Zargar MA,Mufti SM,Mir SH

更新日期：2012-08-01 00:00:00

abstract：BACKGROUND:Next-Generation Sequencing (NGS) is the latest approach for preimplantation genetic diagnoses (PGD). AIM:The purpose of this study was to standardize and validate an NGS method for comprehensive chromosome screening and to investigate its applicability to PGD. METHODS:Embryo biopsy, whole-genome amplificat...

journal_title：Genetic testing and molecular biomarkers

authors： Sachdeva K,Discutido R,Albuz F,Almekosh R,Peramo B

更新日期：2017-11-01 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：: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：: 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：: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：: 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：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：: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：: Aim: Spinal muscular atrophy (SMA) is an inherited, autosomal recessive neuromuscular disease that causes high morbidity and mortality. The prevalence is 1-2/100,000, while the incidence is 1/6000-1/10,000 among live births. Due to the high carrier frequency (1/40-1/60) of...

journal_title：Genetic testing and molecular biomarkers

authors： Cavdarli B,Ozturk FN,Guntekin Ergun S,Ergun MA,Dogan O,Percin EF

更新日期：2020-09-01 00:00:00

abstract：OBJECTIVE:To examine the association between apolipoprotein B (ApoB) XbaI polymorphisms (rs693) and coronary heart disease (CHD) risk among the Han Chinese population by systematically analyzing multiple independent studies. METHODS:The Hardy-Weinberg equilibrium test was applied to check genetic equilibrium among gen...

journal_title：Genetic testing and molecular biomarkers

authors： Chen Y,Lin M,Liang Y,Zhang N,Rao S

更新日期：2016-06-01 00:00:00

abstract：AIMS:The aim of this study was to evaluate urokinase-type plasminogen activator gene (uPA) and thrombin-activatable fibrinolysis inhibitor gene (TAFI) genotypes in a group of infertile women with and/or without endometriosis and controls. METHODS:A case-control study comprising 180 infertile women with endometriosis, ...

journal_title：Genetic testing and molecular biomarkers

authors： Brandes A,Christofolini DM,Cavalheiro CM,Vilarino FL,André GM,Bianco B,Barbosa CP

更新日期：2012-01-01 00:00:00

abstract：AIMS:Genetic testing has become a routine part of prenatal care, the test being offered according to ethnic origin. However, not all clients take the offered tests while others take unnecessary tests. The present study aimed at examining the effects of risk perception, hypochondria, trait anxiety, and attitudes to gene...

journal_title：Genetic testing and molecular biomarkers

authors： Barnoy S,Zelikaman L,Bar-Tal Y

更新日期：2009-08-01 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: 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：: 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：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：BACKGROUND:Cytotoxic T lymphocyte antigen-4 (CTLA-4) plays a pivotal role in immune homeostasis. Dysregulated expression of CTLA-4 leads to many autoimmune diseases, including rheumatoid arthritis, systemic lupus erythematosus, and type 1 diabetes (T1D). There has been a controversial association between the CTLA-4 +49...

journal_title：Genetic testing and molecular biomarkers

authors： Wang K,Zhu Q,Lu Y,Lu H,Zhang F,Wang X,Fan Y

更新日期：2017-04-01 00:00:00

abstract：: Aims: This meta-analysis evaluated the value of using Epstein-Barr virus (EBV) DNA titers as a predictive factor in assessing the clinical course of nasopharyngeal carcinoma (NPC) patients in Southeast Asia. Methods: A systemat...

journal_title：Genetic testing and molecular biomarkers

authors： Xie X,Ren Y,Wang K,Yi B

更新日期：2019-07-01 00:00:00

abstract：:Polymorphisms in DNA repair genes may be associated with differences in the repair efficiency of DNA damage and may influence an individual's risk of atherosclerosis. Genetic research on coronary artery disease (CAD) has traditionally focused on investigation aimed at identifying disease-susceptibility genes. The aim ...

journal_title：Genetic testing and molecular biomarkers

authors： Gokkusu C,Cakmakoglu B,Dasdemir S,Tulubas F,Elitok A,Tamer S,Seckin S,Umman B

更新日期：2013-04-01 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：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