Genetic Polymorphisms of Cytochrome P450 Enzymes and Transport Proteins in a Russian Population and Three Ethnic Groups of Dagestan.

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：: 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：: 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: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: 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：AIM:Our aim was to examine the diagnostic yield of genetic testing in 855 consecutive unrelated cases referred for Long QT syndrome (LQTS). RESULTS:Eight hundred fifty five consecutive patients with a mean age at testing of 27.5±18.6 years, were referred for LQTS genetic testing and had accompanying clinical informati...

journal_title：Genetic testing and molecular biomarkers

authors： Lieve KV,Williams L,Daly A,Richard G,Bale S,Macaya D,Chung WK

更新日期：2013-07-01 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：:The estrogen receptor β (ERβ) mediates the action of estrogen on metabolism of lipids and lipoprotein. Therefore, its gene is a promising candidate gene for cardiovascular disease. The aim of the present study was to investigate whether the ERβ A1730G polymorphism modifies the metabolic response to hormone replacement...

journal_title：Genetic testing and molecular biomarkers

authors： Darabi M,Ani M,Panjehpour M,Rabbani M,Movahedian A,Zarean E

更新日期：2011-01-01 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

abstract：: Background: To determine whether vitamin D receptor (VDR) gene polymorphisms are correlated with susceptibility to diabetic vascular complications. Methods: We included all eligible studies, and used Stata12.0 to calculate the ...

journal_title：Genetic testing and molecular biomarkers

authors： Song N,Yang S,Wang YY,Tang SQ,Zhu YQ,Dai Q,Zhang H

更新日期：2019-08-01 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：: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：:We studied the effect of five newly synthesized steroidal derivatives of nitrogen mustards. These derivatives have as alkylators either P-N, N-bis(2-chloroethyl)aminophenyl-butyrate (CHL) or P-N, N-bis(2-chloroethyl)aminophenyl-acetate (PHE) groups esterified with different modified steroidal nuclei. We examined them ...

journal_title：Genetic testing and molecular biomarkers

authors： Mourelatos C,Nikolaropoulos S,Fousteris M,Pairas G,Argyraki M,Kareli D,Dafa E,Mourelatos D,Lialiaris T

更新日期：2012-06-01 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：:One specific mutation of the GJB2 gene that encodes the connexin 26 protein, the 35delG mutation, has become a major interest among scientists who focus on the genetics of nonsyndromic hearing loss. The mutation accounts for the majority of GJB2 mutations detected in Caucasian populations and represents one of the mos...

journal_title：Genetic testing and molecular biomarkers

authors： Kokotas H,Grigoriadou M,Villamar M,Giannoulia-Karantana A,del Castillo I,Petersen MB

更新日期：2010-04-01 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: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：BACKGROUND:Dopamine D2 receptor (DRD2) is thought to be critical in regulating the dopaminergic pathway in the brain, which is known to be important in the etiology of schizophrenia. It is, therefore, not surprising that most antipsychotic medication acts on DRD2. DRD2 is widely expressed in the brain; levels are reduc...

journal_title：Genetic testing and molecular biomarkers

authors： Voisey J,Swagell CD,Hughes IP,Lawford BR,Young RM,Morris CP

更新日期：2012-02-01 00:00:00

abstract：OBJECTIVE:To examine the associations of methionine synthase (MTR), methionine synthase reductase (MTRR), and methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms with the susceptibility to nonsyndromic cleft lip with or without cleft palate (NSCL/P). METHODS:Between May 2012 and August 2014, 147 NSCL/P pati...

journal_title：Genetic testing and molecular biomarkers

authors： Wang W,Jiao XH,Wang XP,Sun XY,Dong C

更新日期：2016-06-01 00:00:00

abstract：:Obsessive compulsive disorder (OCD) is a psychiatric disorder characterized by obsessive ideas and compulsive behaviors. Genetic studies have centered on candidate genes involved in OCD etiology related to serotonergic and dopaminergic systems. In this study, the relationship between cathechol-O-methyltransferase (COM...

journal_title：Genetic testing and molecular biomarkers

authors： Cengiz M,Okutan SN,Bayoglu B,Sakalli Kani A,Bayar R,Kocabasoglu N

更新日期：2015-05-01 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：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：: Aims: Split-hand/split-foot malformation (SHFM) is a developmental and congenital limb malformation characterized by variable degrees of medial clefting or absence of one or more digits in hands and/or feet. The aim of this study was to identify the underlying cause of thr...

journal_title：Genetic testing and molecular biomarkers

authors： Bilal M,Hayat A,Umair M,Ullah A,Khawaja S,Malik E,Burmeister M,Bibi N,Umm-E-Kalsoom,Memon MI,Basit S,Ahmad W,Khan B

更新日期：2020-09-01 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：: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：:Despite the knowledge of many genetic alterations present in ovarian cancer, the complexity of this disease precludes placing its biology into a simple conceptual framework. Lysyl oxidase (LOX) is an extracellular matrix enzyme that catalyzes the cross-linking of collagens or elastin in the extracellular compartment. ...

journal_title：Genetic testing and molecular biomarkers

authors： Wu J,Cai C,Tong D,Hou H

更新日期：2012-08-01 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：:β-Thalassemia is one of the most prevalent inherited diseases in China. To date, over 20 β-thalassemia mutations have been identified in the Chinese population, and four mutations [CD41-42 (-4 bp), IVS-2-654C→T, CD17A→T, and -28A→G] account for approximately 90% of the cases. Therefore, the exploration of simple, reli...

journal_title：Genetic testing and molecular biomarkers

authors： He X,Sheng M,Xu M,Xiong C,Ren Z

更新日期：2010-12-01 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：BACKGROUND AND AIMS:Recently, genetic association studies have linked a number of single nucleotide polymorphisms (SNPs) with liver fibrosis risk of hepatitis C. The present study was designed to validate the association of emerging SNPs with development of liver cirrhosis and chronicity in a Chinese population infecte...

journal_title：Genetic testing and molecular biomarkers

authors： Peng L,Guo J,Zhang Z,Liu L,Cao Y,Shi H,Wang J,Wang J,Friedman SL,Sninsky JJ

更新日期：2013-09-01 00:00:00