Rapid and cost-effective method for the detection of the c.533G>A mutation in the HEXA gene.

abstract：: Aims: Circadian rhythm genes including Period 3 (Per3) are associated with major depressive disorder (MDD) and have an effect on the patient's response to selective serotonin reuptake inhibitor (SSRI) antidepressants. The aim of this study was to identify possible associat...

journal_title：Genetic testing and molecular biomarkers

authors： Xu Y,Ma H,Zhao T,Wen D,Wen Y,Qiao D,Liu Z

更新日期：2019-12-01 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：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：: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：: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: 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：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：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：: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：: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：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：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：UNLABELLED:Previous studies suggest that the MDM2 gene is one of the most important candidate genes for influencing the risk of osteosarcoma. This study aims to investigate the potential association of MDM2 c.346G>A genetic variant with the risk of osteosarcoma in Chinese. A total of 738 subjects were recruited in this...

journal_title：Genetic testing and molecular biomarkers

authors： Hu Z,Li N,Xie X,Jiang R

更新日期：2015-02-01 00:00:00

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: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：: 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：BACKGROUND:Several published articles investigated the relationship between a polymorphism -148C>T in the β-fibrinogen gene (FGB) and risk of ischemic stroke, and did not reach the same conclusion. To shed light on these inconclusive findings, we performed a meta-analysis of studies relating the FGB genetic polymorphis...

journal_title：Genetic testing and molecular biomarkers

authors： Zhang LJ,Li HH,Tao SB,Yuan B,Yan HQ,Chang L,Zhao JH

更新日期：2014-06-01 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：:Genes and their products involved in the biological pathways of human cancers have been studied as either targets of new therapies, or predictive markers for the sensitivity of or resistance to the therapies. Companion diagnostic testing on biological markers for targeted cancer therapies has become a vital component ...

journal_title：Genetic testing and molecular biomarkers

authors： Fan YS

更新日期：2013-07-01 00:00:00

abstract：BACKGROUND:Advances in next-generation sequencing (NGS) technologies are driving a shift from single-gene to multigene panel testing for clinical genetic cancer risk assessment (GCRA). This study explored perceptions, experiences, and challenges with NGS testing for GCRA among U.S. community-based clinicians. METHODS:...

journal_title：Genetic testing and molecular biomarkers

authors： Blazer KR,Nehoray B,Solomon I,Niell-Swiller M,Culver JO,Uman GC,Weitzel JN

更新日期：2015-12-01 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：: Aims: To investigate the possible roles of the single nucleotide polymorphisms (SNPs) MATN3 (rs77245812) and DOT1L (rs12982744) with susceptibility to knee osteoarthritis (KOA) among mestizos from the northeast region of Mexico. In addition, we analyzed the relationship of...

journal_title：Genetic testing and molecular biomarkers

authors： García-Alvarado FJ,Delgado-Aguirre HA,Rosales-González M,González-Martínez MDR,Ruiz-Flores P,González-Galarza FF,Arellano Perez Vertti RD

更新日期：2020-02-01 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：: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：: 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：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：: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：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：: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 and Aims: Interleukin-15 (IL-15) is a key player in the pathogenesis of celiac disease (CD). We investigated the functional role of IL-15 in the process of epithelial cell phenotypic modification at different stages of CD. Materials and ...

journal_title：Genetic testing and molecular biomarkers

authors： Aghamohamadi E,Kokhaei P,Rostami-Nejad M,Pak F,Rostami K,Moradi A,Pourhoseingholi MA,Chaleshi V,Masotti A,Zali MR

更新日期：2020-08-01 00:00:00