Toll-like receptor 6 and connective tissue growth factor are significantly upregulated in mitomycin-C-treated urothelial carcinoma cells under hydrostatic pressure stimulation.

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：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:Mannose-binding lectin (MBL) is a protein synthesized by the liver and its immune response is associated with the development of liver fibrosis. We hypothesized that the polymorphisms in the Exon 1 region (52, 54, 57) and promoter regions (-550 H/L, -221 X/Y) of the MBL2 gene were associated with the severity of p...

journal_title：Genetic testing and molecular biomarkers

authors： da Silva Constantino T,de Lima ELS,de Brito LRPB,Silva JL,Coêlho MRCD,Muniz MTC,Silva PCV,Domingues ALC

更新日期：2017-09-01 00:00:00

abstract：OBJECTIVES:Somatic mutations in mediator complex subunit 12 (MED12) have emerged as a critical genetic change in the development of uterine leiomyomas. Studies, however, have focused largely on cohorts consisting of Caucasian patients. In this study, uterine leiomyomas from Chinese patients were examined for MED12 muta...

journal_title：Genetic testing and molecular biomarkers

authors： Wang H,Ye J,Qian H,Zhou R,Jiang J,Ye L

更新日期：2015-03-01 00:00:00

abstract：:A 26-year-old woman with secondary amenorrhea and turneroid stigmata was found to have a 46,X,rea(X)(qter→p11.2::q21.2→qter)/46,X,del(X)(qter→p11.2:) mosaicism in 101 G-banded metaphases (71 and 30, respectively). The mother's karyotype was normal (the father was already deceased). A fully skewed inactivation of both ...

journal_title：Genetic testing and molecular biomarkers

authors： Vásquez-Velásquez AI,Torres-Flores J,Leal CA,Rivera H

更新日期：2011-10-01 00:00:00

abstract：:Retinoblastoma (RB) is the most common malignant intraocular tumor in children. Fifty percent of RB patients are carriers of a predisposing germline mutation with high penetrance. RB1 has been identified as the only pathological gene. We present the rapid detection of an RB1 gene mutation in a Han pedigree of two RB p...

journal_title：Genetic testing and molecular biomarkers

authors： Chen CY,Xu CM,Du ZF,Chen XL,Ren GL,Zhang XN

更新日期：2010-04-01 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：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：OBJECTIVES:Genotyping of single-nucleotide polymorphisms (SNPs) has been applied in various genetic contexts. Tetra-primer amplification refractory mutation system (ARMS) polymerase chain reaction (PCR) is reported as a prominent assay for SNP genotyping. However, there were published data that may question the reliabi...

journal_title：Genetic testing and molecular biomarkers

authors： Mesrian Tanha H,Mojtabavi Naeini M,Rahgozar S,Rasa SM,Vallian S

更新日期：2015-03-01 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：AIM:Neurexin 1 has two major protein isoforms using alternative promoters, coding for the alpha-neurexin 1 (α-NRXN1) and beta-neurexin 1 (β-NRXN1) genes. This study is to explore the possibility that variants of the NRXN1 gene predispose to intellectual disability (ID) and autism spectrum disorder (ASD). METHODS:The c...

journal_title：Genetic testing and molecular biomarkers

authors： Yangngam S,Plong-On O,Sripo T,Roongpraiwan R,Hansakunachai T,Wirojanan J,Sombuntham T,Ruangdaraganon N,Limprasert P

更新日期：2014-07-01 00:00:00

abstract：:The association between excision repair cross complementing group 2 (ERCC2) Asp312Asn polymorphism and lung cancer has been reported by many articles recently, but the results were controversial and inconclusive. Therefore, a meta-analysis was conducted to assess the relationship between them. Pooled odds ratios (ORs)...

journal_title：Genetic testing and molecular biomarkers

authors： Tan X,Wang Y,Shi L,Xian L,Guo J,Liang G,Chen M

更新日期：2014-01-01 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：: Objective: Pancreatic cancer (PC) is a serious disease with poor outcomes, and its prevalence has been increasing steadily. The circadian rhythm (CR) is involved in multiple physiological events and maintains homeostasis. Alterations in the CR elevate the risk of developin...

journal_title：Genetic testing and molecular biomarkers

authors： Dagmura H,Yiğit S,Nursal AF,Duman E,Gumusay O

更新日期：2020-12-29 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：: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：:Cowden syndrome (CS), an autosomal dominant disorder, is associated with germline mutations of the PTEN (phosphatase, tensin homolog, deleted on chromosome TEN) gene. PTEN mutations were linked to several human neoplasms. Clinical diagnosis has been based on Consortium criteria, but detection of mutations in the PTEN ...

journal_title：Genetic testing and molecular biomarkers

authors： Soysal Y,Tate G,Polat C,Polat N,Aktepe F,Sivaci Y,Imirzalioglu N

更新日期：2009-08-01 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：:Current classifications of diabetes distinguish between type 1 diabetes (T1D) and type 2 diabetes (T2D). However, recent evidence highlights overlap between T1D and T2D. In a recent study, we have suggested for the first time that STAT4 gene polymorphism is associated with increased risk for the development of T1D in ...

journal_title：Genetic testing and molecular biomarkers

authors： Kofteridis D,Krasoudaki E,Kavousanaki M,Zervou MI,Panierakis C,Boumpas DT,Goulielmos GN

更新日期：2009-04-01 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：OBJECTIVE:Interleukin-6 (IL-6) is a pleiotropic cytokine and important mediator of many inflammatory processes, which might affect susceptibility to multiple sclerosis (MS). The aim of this study was to assess the effect of IL-6-174G/C polymorphism on the risk of MS using a meta-analysis. MATERIALS AND METHODS:The Pub...

journal_title：Genetic testing and molecular biomarkers

authors： Hu S,Chen Y,Sun XD,Li FJ,Shu QF,Liu XL,Jiang SF

更新日期：2014-02-01 00:00:00

abstract：:Molecular characterization of 27 cytogenetically confirmed Indian XY females was attempted by screening selected regions of candidate genes namely SRY (HMG box) and the ligand-binding domain of androgen receptor (AR) (Exons 5-8). Three of the index cases showed sequence variations in exons of the AR gene: a deletion m...

journal_title：Genetic testing and molecular biomarkers

authors： Vasu VR,Saranya B,Jayashankar M,Munirajan AK,Santhiya ST

更新日期：2012-07-01 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：:Prostate cancer is the most common noncutaneous malignant neoplasm in men in the Western countries. It is well established that genetic and epigenetic alterations are common events in prostate cancer, which may lead to aberrant expression of critical genes. Most of the studies are focused on the overexpressed or dupli...

journal_title：Genetic testing and molecular biomarkers

authors： Varisli L

更新日期：2013-07-01 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：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：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:Serotonin has been related to appetite and body weight control. The aim of this study was to investigate a possible association of the -1438 /A promoter polymorphism of the serotonin 2A receptor (5HT2AR) gene with obesity-related variables and response to sibutramine. PATIENTS/METHODS:We examined the potential im...

journal_title：Genetic testing and molecular biomarkers

authors： Papazoglou D,Restas E,Papanas N,Papatheodorou K,Babouris C,Glaros D,Antonoglou C,Maltezos E

更新日期：2012-02-01 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：AIM:One of the main problems concerning repeated spontaneous miscarriage (RSM) is the etiological diagnosis. The relation of thrombophilia to RSM is a matter of debate. In this case-control study, we determined the percentages of three thrombophilic mutations (factor V leiden, prothrombin, and methylenetetrahydrofolate...

journal_title：Genetic testing and molecular biomarkers

authors： Mohamed MA,El Moaty MA,El Kholy AF,Mohamed SA,Ali AI

更新日期：2010-10-01 00:00:00