Transforming growth factor-beta3 gene polymorphisms and nonsyndromic cleft lip and palate risk: a meta-analysis.

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：: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：: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：: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：: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：BACKGROUND:There has been recent recognition that the GSTM1 gene is associated with successful aging and longevity. It has been hypothesized that individuals with a GSTM1 deletion are at a greater risk for developing a plethora of diseases. This study was carried out to investigate the association between the rs574344 ...

journal_title：Genetic testing and molecular biomarkers

authors： Zhang Y,Zhang S,Yan D,Pan H,Liu B,Li T,Wang X,Cai W,Wang B

更新日期：2019-01-01 00:00:00

abstract：AIMS:To identify the pathogenic mutation underlying microcephaly primary hereditary (MCPH) in a large consanguineous Pakistani family. METHODS:A five-generation family with an autosomal recessive transmission of MCPH was recruited. Targeted next-generation DNA sequencing was carried out to analyze the genomic DNA samp...

journal_title：Genetic testing and molecular biomarkers

authors： Khan A,Wang R,Han S,Ahmad W,Zhang X

更新日期：2018-03-01 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 insertion/deletion (I/D) polymorphism of the angiotensin-converting enzyme (ACE) gene is associated with vitiligo in the Indians and Koreans, but not in those of English or Turkish background. We investigated the ACE (I/D) polymorphism in vitiligo patients for the first time in Egypt and compared serum ACE leve...

journal_title：Genetic testing and molecular biomarkers

authors： Badran DI,Nada H,Hassan R

更新日期：2015-05-01 00:00:00

abstract：AIMS:Despite the established link between malignant pleural mesothelioma (MPM) and asbestos exposure, genetic risk factors may play a key role in MPM pathogenesis. The rs9939609 polymorphism in the FTO gene has recently been implicated as a risk factor for some types of cancer, such as breast, pancreatic, and prostate ...

journal_title：Genetic testing and molecular biomarkers

authors： Khella MS,Salem AM,Abdel-Rahman O,Saad AS

更新日期：2018-02-01 00:00:00

abstract：OBJECTIVES:Currently, there is a debate regarding the roles of two functional fibrinogen-related variants (rs6050 and rs1800790) and ischemic stroke (IS). MATERIALS AND METHODS:A total of 1402 subjects (834 cases and 568 controls) were genotyped for single-nucleotide polymorphisms rs6050 and rs1800790 with the ligatio...

journal_title：Genetic testing and molecular biomarkers

authors： Zhang J,Yu L,Yin Y,Lu Q,Lei L,Xiao J,Guo J,Zhao J,Wang Y,He G,Xu Y,He L

更新日期：2013-11-01 00:00:00

abstract：AIMS:Since desmin expression is diminished in vascular smooth muscle cells during reparative processes, we wanted to study whether a common intragenic single nucleotide polymorphism at nucleotide position 828 (rs1058261) of the DES gene associates with hypertension, cerebrovascular complications, and all cardiovascular...

journal_title：Genetic testing and molecular biomarkers

authors： Piesanen J,Kunnas T,Nikkari ST

更新日期：2018-09-01 00:00:00

abstract：AIM:The objective of this study was to investigate the prevalence of polymorphic markers of the CYP2C19, CYP2C9, CYP2D6, SLCO1B1, and ABCB1 genes among the three ethnic groups in Dagestan and compare it with the carrier frequency of these markers among the Russian population living in Moscow. METHODS:The study involve...

journal_title：Genetic testing and molecular biomarkers

authors： Mirzaev KB,Sychev DA,Ryzhikova KA,Konova OD,Mammaev SN,Gafurov DM,Shuev GN,Grishina EA,Sozaeva ZA

更新日期：2017-12-01 00:00:00

abstract：INTRODUCTION:manipur, one of the northeastern states of India, lies on the ancient silk route and serves as a meeting point between the Southeast Asia and South Asia. AIMS:this study was conducted to understand and estimate the genomic diversity among various population groups of Manipur, with a major goal of getting ...

journal_title：Genetic testing and molecular biomarkers

authors： Meitei KS,Meitei SY,Asghar M,Achoubi N,Murry B,Mondal PR,Sachdeva MP,Saraswathy KN

更新日期：2010-12-01 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：: 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 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：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

abstract：: Aims: The aim of this study was to summarize the currently available evidence on the associations between the IL-10-1082G/A, IL-10-592A/C, and IL-10-819G/A polymorphisms and susceptibility to atopic dermatitis (AD). Materials and Methods: ...

journal_title：Genetic testing and molecular biomarkers

authors： Zhao J,Chen ZY,Li LF

更新日期：2019-05-01 00:00:00

abstract：:Founder mutations, particularly 35delG in the GJB2 gene, have to a large extent contributed to the high frequency of autosomal recessive nonsyndromic hearing loss (ARNSHL). Mutations in transmembrane channel-like gene 1 (TMC1) cause ARNSHL. The p.R34X mutation is the most frequent known mutation in the TMC1 gene. To s...

journal_title：Genetic testing and molecular biomarkers

authors： Ben Saïd M,Hmani-Aifa M,Amar I,Baig SM,Mustapha M,Delmaghani S,Tlili A,Ghorbel A,Ayadi H,Van Camp G,Smith RJ,Tekin M,Masmoudi S

更新日期：2010-06-01 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：:Matrix metalloproteinases (MMPs) are a family of enzymes that degrade extracellular matrix components and are involved in the development and progression of cancer. Lung cancer is the most commonly diagnosed cancer in Lebanon. This study was undertaken to investigate the association between -1171(5A>6A) polymorphism i...

journal_title：Genetic testing and molecular biomarkers

authors： Fakhoury HM,Noureddine S,Tamim H,Chmaisse H,Makki R

更新日期：2012-08-01 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:Cytogenetic biomarkers are most frequently used well-established endpoints in human population studies with their sensitivity for measuring exposure to genotoxic agents. They have an important role as early predictors of cancer risk. Identification of individual genotypes of metabolic gene polymorphisms help...

journal_title：Genetic testing and molecular biomarkers

authors： Kadioglu E,Kocabas NA,Demircigil GC,Coskun E,Ozcagli E,Durmaz E,Karahalil B,Burgaz S,Sardas S

更新日期：2012-10-01 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：: 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：:By virtue of the functional role of the mitochondrion in energy and reactive oxygen species production, mutations in mitochondrial DNA (mtDNA) are potential candidates for cardiovascular-related disorders. Further, the mtDNA is extremely polymorphic and several diagnostic single-nucleotide polymorphisms have been used...

journal_title：Genetic testing and molecular biomarkers

authors： Abu-Amero KK,Al-Boudari OM,Mousa A,Gonzalez AM,Larruga JM,Cabrera VM,Dzimiri N

更新日期：2010-02-01 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：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: 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