Improvement of a Rapid and Highly Sensitive Method for the Diagnosis of the Mitochondrial m.1555A>G Mutation Based on a Single-Stranded Tag Hybridization Chromatographic Printed-Array Strip.

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：:Mutations in GJB2 gene are the most common cause of nonsyndromic sensorineural recessive hearing loss. One specific mutation, c.35delG, is the most frequent in the majority of Caucasian populations and may account for up to 70% of all GJB2 mutations. However, 10-40% of the patients carry only one pathogenic mutation i...

journal_title：Genetic testing and molecular biomarkers

authors： da Silva-Costa SM,Coeli FB,Lincoln-de-Carvalho CR,Marques-de-Faria AP,Kurc M,Pereira T,Pomilio MC,Sartorato EL

更新日期：2009-10-01 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：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：:Up to date, few published studies indicated the associations between genetic polymorphisms and epidural local anesthetics consumption. In this study, we investigated the associations between seven single-nucleotide polymorphisms (SNPs) and epidural ropivacaine consumption during breast cancer surgery in women from nor...

journal_title：Genetic testing and molecular biomarkers

authors： Liu J,Jiang Y,Pang D,Xi H,Liu Y,Li W

更新日期：2013-06-01 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：: 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：AIMS:The genetics of folate metabolism is one of the most significant mechanisms influencing fetal growth and may underlie some cases of unexplained recurrent miscarriage. Reduced folate carrier 1, encoded by the SLC19A1 gene, is a transporter of folate. Folate deficiency and elevated levels of homocysteine could be di...

journal_title：Genetic testing and molecular biomarkers

authors： Mohtaram S,Sheikhha MH,Honarvar N,Sazegari A,Maraghechi N,Feizollahi Z,Ghasemi N

更新日期：2016-05-01 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：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：:Inherited functional single-nucleotide polymorphisms (SNPs) in DNA repair genes may influence the capability of DNA repair and contribute to the risk of breast cancer. We therefore performed a case-control study to investigate the association of three in excision repair cross-complimentary group 1 (ERCC1) and three in...

journal_title：Genetic testing and molecular biomarkers

authors： Yang Z,Fang X,Pei X,Li H

更新日期：2013-09-01 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：AIMS:To investigate the association between transforming growth factor-beta3 (TGF-β3) genetic polymorphisms and nonsyndromic cleft lip and palate (NSCLP) risk. METHODS:An extensive literature search for relevant studies was conducted on PubMed, Embase, Web of Science, Cochrane Library, and CBM databases from their inc...

journal_title：Genetic testing and molecular biomarkers

authors： Tang M,Wang Y,Han S,Guo S,Wang D

更新日期：2013-12-01 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：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：: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：BACKGROUND:The distribution of polymorphisms in the CYP2D6 and CYP2C19 genes allows inferring the potential risk for specific adverse drug reactions and lack of therapeutic effects in humans. This variability shows differences among human populations. The aim of this study was to analyze single-nucleotide polymorphisms...

journal_title：Genetic testing and molecular biomarkers

authors： Salazar-Flores J,Torres-Reyes LA,Martínez-Cortés G,Rubi-Castellanos R,Sosa-Macías M,Muñoz-Valle JF,González-González C,Ramírez A,Román R,Méndez JL,Barrera A,Torres A,Medina R,Rangel-Villalobos H

更新日期：2012-09-01 00:00:00

abstract：: Background: Allergic diseases, including asthma, atopic dermatitis, allergic rhinitis, and food allergies, are caused by both environmental and genetic factors. The allergic condition, where genetic factors make up the largest proportion (up to 95%), is asthma. ...

journal_title：Genetic testing and molecular biomarkers

authors： Trueb B,Zhuang L,Villiger PM

更新日期：2020-10-01 00:00:00

abstract：: Background and Purpose: Mucopolysaccharidosis 1 (MPS1) is an autosomal recessive disorder of a lysosomal enzyme called alpha-l-iduronidase caused by mutations in the IDUA gene. This enzyme is responsible for the degradation of the mucopolysaccharides, heparan sulfate, and ...

journal_title：Genetic testing and molecular biomarkers

authors： Kamranjam M,Alaei M

更新日期：2019-08-01 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：: 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：: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

abstract：AIMS:Increasing evidence links the abnormal expression of microRNAs and ATP-binding cassette subfamily C member 4 (ABCC4) with tumor development and progression, as well as with chemoresistance. Our aims were to determine the therapeutic potential of targeting both miR-124-3p and ABCC4 in breast cancer cells and to det...

journal_title：Genetic testing and molecular biomarkers

authors： Hu D,Li M,Su J,Miao K,Qiu X

更新日期：2019-03-01 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：:Diabetic nephropathy is the leading cause of end-stage renal disease in the world. The cause of diabetic nephropathy seems to be multifactorial, and about one-third of patients with diabetes eventually develop this complication. The gene encoding ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) is a candidat...

journal_title：Genetic testing and molecular biomarkers

authors： Lin CC,Wu CT,Wu LS

更新日期：2011-04-01 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：: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：OBJECTIVE:To investigate the correlations between three vascular endothelial growth factor 2 (VEGFR2) gene polymorphisms, +1192C>T, +1719T>A, and -604T>C, and deep venous thrombosis (DVT) in Chinese Han population. METHODS:We conducted a case-control study, between September 2009 and September 2012, in a Chinese Han p...

journal_title：Genetic testing and molecular biomarkers

authors： Wang X,Wang HQ,Jian T,Qin WW,Xu F,Xin ZL,Wang YH,Zhang M,Lu HJ

更新日期：2015-12-01 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：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