Association Between the SNP rs143383 + 104T/C in the GDF5 Gene and the Risk of Knee Osteoarthritis in a Population from Northern Mexico-A Case-Control Study.

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：OBJECTIVE:In this study, the aim of prenatal screening was to estimate the carrier frequency of the three mutations 35delG, del (GJB6-D13S1830), and del (GJB6-D13S1854), which are known to be the leading mutations of hereditary hearing loss in European populations. METHODS:We performed a prenatal screening to assess t...

journal_title：Genetic testing and molecular biomarkers

authors： Dragomir C,Stan A,Stefanescu DT,Savu L,Severin E

更新日期：2011-11-01 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：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：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 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：: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:+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：:Tay-Sachs disease is a rare autosomal recessive neurodegenerative disorder that results from mutations in the HEXA gene, leading to β-hexosaminidase A (HexA) α subunit deficiency. An unusual variant of Tay-Sachs disease is known as the B1 variant. Previous studies indicated that, in northern Portugal, this is not only...

journal_title：Genetic testing and molecular biomarkers

authors： Ribeiro D,Duarte AJ,Amaral O

更新日期：2011-03-01 00:00:00

abstract：:The genes involved in androgen pathway and metabolism have been reported to contribute considerably to prostate carcinoma (CaP) risk. The present study investigated the association of androgen receptor (AR), prostate-specific antigen (PSA or KLK3), and cytochrome P450 (CYP19) gene polymorphisms in CaP (n=105) and beni...

journal_title：Genetic testing and molecular biomarkers

authors： Soni A,Bansal A,Mishra AK,Batra J,Singh LC,Chakraborty A,Yadav DS,Mohanty NK,Saxena S

更新日期：2012-08-01 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: Heroin use disorder (HUD) is a complex brain disease that includes multiple phenotypes. Heroin acts primarily as a mu-opioid receptor (OPRM1) agonist. The κ opioid receptor 1 (OPRK1) is critically involved in abstinence and remission. Multiple studies confirm t...

journal_title：Genetic testing and molecular biomarkers

authors： Zhang Q,Shi M,Tang H,Zhong H,Lu X

更新日期：2020-01-01 00:00:00

abstract：: Background: Studies investigating the relationship between polymorphisms of the sex hormone-binding globulin (SHBG) gene and polycystic ovary syndrome (PCOS) have reported differing results. Therefore, the present meta-analysis was performed to clarify the effects of the S...

journal_title：Genetic testing and molecular biomarkers

authors： Liao X,Cao S

更新日期：2020-08-01 00:00:00

abstract：: Aim: The aim of this study was to report a novel POU Class 3 Homeobox 4 (POU3F4) variant and to provide further guidance on genetic counseling for incomplete partition (IP) type III families in the Korean population by showing two new contrasting cases in terms of genotype...

journal_title：Genetic testing and molecular biomarkers

authors： Jang JH,Oh J,Han JH,Park HR,Kim BJ,Lee S,Kim MY,Lee S,Oh DY,Choung YH,Choi BY

更新日期：2019-06-01 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：: 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：: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：: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：OBJECTIVE:Essential hypertension is a multifactorial disease in which genetic and environmental factors play an important role. The renin-angiotensin system (RAS) is known to play a critical role in the homeostasis of blood pressure. Angiotensin-I converting enzyme (ACE) is a significant component of RAS, and an insert...

journal_title：Genetic testing and molecular biomarkers

authors： Srivastava K,Sundriyal R,Meena PC,Bhatia J,Narang R,Saluja D

更新日期：2012-03-01 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：: 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：AIMS:Poly (ADP-ribose) polymerase-1 (PARP-1) plays an important role in the repair of damaged DNA and has prognostic significance in a variety of human malignancies. However, little is known about its expression levels and clinical implication in patients with acute myeloid leukemia (AML). MATERIALS AND METHODS:Quanti...

journal_title：Genetic testing and molecular biomarkers

authors： Pashaiefar H,Yaghmaie M,Tavakkoly-Bazzaz J,Ghaffari SH,Alimoghaddam K,Momeny M,Izadi P,Izadifard M,Kasaeian A,Ghavamzadeh A

更新日期：2018-06-01 00:00:00

abstract：AIMS:Receptor activator of nuclear factor-kappa B ligand (RANKL), its receptor activator of nuclear factor-kappa B (RANK), and decoy receptor osteoprotegerin (OPG) are three major proteins of the RANKL/RANK/OPG signaling pathway encoded by TNFSF11, TNFRSF11A, and TNFRSF11B, respectively. This pathway plays a critical r...

journal_title：Genetic testing and molecular biomarkers

authors： Duan P,Tu P,Si L,Hu W,Liu M,Liu J,Xue Y

更新日期：2016-06-01 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：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：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: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：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：AIMS:In this meta-analysis, we evaluated the usefulness of serum thymidine kinase 1 concentration (STK1c) for monitoring the outcome of extensive open surgery in patients with lung cancer. We also compared STK1c between a healthy population and patients with benign and malignant lung tumors to assess its potential valu...

journal_title：Genetic testing and molecular biomarkers

authors： Lou X,Zhou J,Ma H,Xu S,He E,Skog S,Wang H

更新日期：2017-08-01 00:00:00

abstract：:Sarcoidosis is a complex disease with autoimmune basis and still unknown etiology. We have screened for mutations in the cystic fibrosis conductance regulator (CFTR) gene and genotyped single-nucleotide polymorphisms in the tumor necrosis factor (TNF), interferon alpha-10 (IFNA10), IFNA17, and interferon gamma (IFNG) ...

journal_title：Genetic testing and molecular biomarkers

authors： Makrythanasis P,Tzetis M,Rapti A,Papatheodorou A,Tsipi M,Kitsiou S,Tsiamouri A,Poulou M,Roussos C,Kanavakis E

更新日期：2010-08-01 00:00:00