A genomic insight into the peopling of Manipur, India.

abstract：:Leptin is a key hormone of weight regulation that modulates food intake. Since the elaboration of the leptin action mechanism, several studies tried to establish the relationship between obesity and the common polymorphisms of leptin (LEP) and leptin receptor (LEPR) genes, but results were controversial. We studied th...

journal_title：Genetic testing and molecular biomarkers

authors： Boumaiza I,Omezzine A,Rejeb J,Rebhi L,Ouedrani A,Ben Rejeb N,Nabli N,Ben Abdelaziz A,Bouslama A

更新日期：2012-07-01 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：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：INTRODUCTION:Gasdermin A (GSDMA) and gasdermin B (GSDMB) have been associated with childhood, and to a lesser extent with adult, asthma in many populations. AIMS:In this study, we investigated the association between GSDMA and GSDMB variants and the incidence of adult and childhood asthma among Jordanians. METHODS:Su...

journal_title：Genetic testing and molecular biomarkers

authors： Zihlif M,Obeidat NM,Zihlif N,Mahafza T,Froukh T,Ghanim MT,Beano H,Al-Akhras FM,Naffa R

更新日期：2016-03-01 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：: 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：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：: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：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:Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal-dominant inherited disease. This study was carried out to investigate the genetic and functional changes within the FOXL2 gene in two Chinese families with BPES. MATERIALS AND METHODS:DNA was extracted from the peripheral blood ...

journal_title：Genetic testing and molecular biomarkers

authors： Li H,Gu Y

更新日期：2018-10-01 00:00:00

abstract：AIMS:Inflammatory markers play an important role in the development of diseases related to metabolic syndrome, such as type 2 diabetes (T2D) and coronary artery disease (CAD). The present study evaluates the association of -2518A>G polymorphism in the monocyte chemoattractant protein-1 (MCP-1) gene with T2D and CAD. R...

journal_title：Genetic testing and molecular biomarkers

authors： Kaur R,Matharoo K,Arora P,Bhanwer AJ

更新日期：2013-10-01 00:00:00

abstract：AIM:The purpose of this study was to determine if there is a correlation between telomere length (TL) and mitochondrial DNA copy number (mtDNAcn) in children. METHODS:Leukocyte TL and mtDNAcn were measured by real-time PCR in 98 Mexican children 6-12 years of age from Salamanca, México. RESULTS:A positive association...

journal_title：Genetic testing and molecular biomarkers

authors： Alegría-Torres JA,Velázquez-Villafaña M,López-Gutiérrez JM,Chagoyán-Martínez MM,Rocha-Amador DO,Costilla-Salazar R,García-Torres L

更新日期：2016-11-01 00:00:00

abstract：BACKGROUND/AIM:several studies have looked at the potential link between angiotensin-converting enzyme (ACE) insertion/deletion (I/D) polymorphism and the risk of hypertension and have shown that the DD polymorphism may be associated with a higher prevalence of hypertension. Our objective was to assess for possible ass...

journal_title：Genetic testing and molecular biomarkers

authors： Akra-Ismail M,Makki RF,Chmaisse HN,Kazma A,Zgheib NK

更新日期：2010-12-01 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：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：PURPOSE:We describe a real-time polymerase chain reaction (PCR) protocol based on the fluorescent molecule SYBR Green chemistry, for a low- to medium-throughput analysis of Y-chromosome microdeletions, optimized according to the European guidelines and aimed at making the protocol faster, avoiding post-PCR processing, ...

journal_title：Genetic testing and molecular biomarkers

authors： Segat L,Padovan L,Doc D,Petix V,Morgutti M,Crovella S,Ricci G

更新日期：2012-12-01 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：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：:Mutations in the gene MLC1 are found in approximately 80% of the patients with the inherited childhood white matter disorder megalencephalic leukoencephalopathy with subcortical cysts (MLC). Genetic linkage studies have not led to the identification of another disease gene. We questioned whether mutations in CLCN2, co...

journal_title：Genetic testing and molecular biomarkers

authors： Scheper GC,van Berkel CG,Leisle L,de Groot KE,Errami A,Jentsch TJ,Van der Knaap MS

更新日期：2010-04-01 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: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：AIMS:The dopaminergic and endocannabinoid systems are involved in regulation of feeding behavior. The aim of the study is to examine the possible relation between polymorphisms of the dopamine D2 receptor (DRD2) and cannabinoid receptor-1 (CNR1) genes and childhood obesity. METHODS:A hundred obese children and 100 hea...

journal_title：Genetic testing and molecular biomarkers

authors： Col Araz N,Nacak M,Oguzkan Balci S,Benlier N,Araz M,Pehlivan S,Balat A,Aynacioglu AS

更新日期：2012-12-01 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：: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：PURPOSE:This study was undertaken to describe cancer risk assessment practices among primary care providers (PCPs). METHODS:An electronic survey was sent to PCPs affiliated with a single insurance carrier. Demographic and practice characteristics associated with cancer genetic risk assessment and testing activities we...

journal_title：Genetic testing and molecular biomarkers

authors： Vig HS,Armstrong J,Egleston BL,Mazar C,Toscano M,Bradbury AR,Daly MB,Meropol NJ

更新日期：2009-12-01 00:00:00

abstract：AIM:This study was carried out to evaluate the association of genetic polymorphism -670A>G in the promoter of Fas gene as well as serum biomarkers aspartate aminotransferase (AST) platelet ratio index (APRI) and AST/alanine aminotransferase (ALT) with significant fibrosis and cirrhosis in chronic hepatitis C patients. ...

journal_title：Genetic testing and molecular biomarkers

authors： Deghady A,Abdou A,El-Neanaey WA,Diab I

更新日期：2012-06-01 00:00:00

abstract：BACKGROUND:Qualitative and quantitative detection of circulating tumor DNA (ctDNA) is a liquid biopsy technology used for early cancer diagnosis. However, the plasma ctDNA content is extremely low, so it is difficult to detect somatic mutations of tumors using conventional sequencing methods. Target region sequencing (...

journal_title：Genetic testing and molecular biomarkers

authors： Chen J,Chen J,He F,Huang Y,Lu S,Fan H,Wang M,Xu R

更新日期：2019-04-01 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：AIMS:Essential hypertension (EH) is a disease in which both environment and genes have an important role. This study was designed to identify the interaction model between genetic variants and environmental risk factors that most highly potentiates EH development. METHODS:We performed a case-control study with 1641 pa...

journal_title：Genetic testing and molecular biomarkers

authors： Sousa AC,Mendonça MI,Pereira A,Gouveia S,Freitas AI,Guerra G,Rodrigues M,Henriques E,Freitas S,Borges S,Pereira D,Brehm A,Palma Dos Reis R

更新日期：2017-10-01 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