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Genetic Testing and Molecular Biomarkers

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https://www.readbyqxmd.com/read/30199281/low-gonadotropin-dosage-reduces-aneuploidy-in-human-preimplantation-embryos-first-clinical-study-in-a-uae-population
#1
Kabir Sachdeva, Divyesh Upadhyay, Richard Discutido, Merlin Mary Varghese, Firas Albuz, Rawan Almekosh, Linda Bouhafs, Sadika Solkar, Martina Stevikova, Braulio Peramo
BACKGROUND: Retrospective analysis of embryo aneuploidy in patients undergoing in vitro fertilization (IVF) cycles. AIM: To evaluate factors that might affect the incidence of embryo aneuploidy during IVF cycles. METHODS: Three hundred twelve IVF cases were included in the present study. Preimplantation genetic testing for aneuploidy (PGT-A) was performed for all the subjects involved in the study. Subject stratification was done based on maternal age, gonadotropin drug dosage, and IVF outcomes data...
September 7, 2018: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/30188187/association-between-malat1-and-thril-polymorphisms-and-precancerous-cervical-lesions
#2
Yao Wang, Yang Liu, Zhongyi Li, Xiumin Yan, Chuican Huang, Xingguang Ye, Xiuhong Sun, Shuang Qin, Xingming Zhong, Chengli Zeng, Dandan Liu, Xiaoqian Zou, Yumei Liu, Jing Wu, Zihao Wen, Guang Yang, Chunxia Jing, Xiangcai Wei
BACKGROUND: The occurrence of cervical cancer is a complex process, for which human papillomavirus (HPV) infection is a risk factor, although not all women infected with HPV will develop the disease. Knockout of mammalian lung metastasis associated transcript 1 (MALAT1) is associated with increased risk for several cancer types, whereas the long non-coding RNA (lncRNA) THRIL is essential for induction of tumor necrosis factor-α expression, which plays important roles in HPV infection...
September 6, 2018: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/30183357/association-between-c1q-trail-and-tim-1-gene-polymorphisms-and-systemic-lupus-erythematosus
#3
Yunxia Yu, Caixia Zhu, Shaolan Zhou, Shuhong Chi
AIM: The present study was designed to examine the relationship between gene polymorphisms of C1q, tumor necrosis factor-related apoptosis-inducing ligand (TRAIL), T cell immunoglobulin mucin (Tim-1), and systemic lupus erythematosus (SLE). MATERIALS AND METHODS: A total of 245 SLE patients were selected from February 2012 to August 2016, along with 245 healthy donors as the control group. Genomic DNA was extracted from peripheral blood samples from all subjects followed by mutational analyses...
September 5, 2018: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/30183356/tgf%C3%AE-hinfi-polymorphisms-contribute-to-nonsyndromic-cleft-lip-and-palate-in-turkish-patients
#4
Ebru Derelli Tufekci, Erhan Ozdiler, Ayse Tuba Altug, Ozlem Sancak, Orhan Ozdiler, Hakki Tastan
BACKGROUND: Nonsyndromic cleft lip with/without cleft palate (nsCL ± P) is one of the most common birth defects of complex etiology, occurring in ∼1/700 live births worldwide. A series of epidemiological studies were conducted to investigate the association between a transforming growth factor alpha (TGFα) polymorphism and nsCL ± P risk. The aim of this study was to investigate the association between the TGFα/HinfI polymorphisms and nsCL ± P in Turkish patients. METHODS: One hundred fifty-five Turkish subjects were enrolled: 70 nsCL ± P patients and 85 unrelated control individuals...
September 5, 2018: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/30183354/utilizing-whole-exome-sequencing-to-characterize-the-phenotypic-variability-of-sickle-cell-disease
#5
Abdulrahman Alsultan, Ahmed M Al-Suliman, Aamer Aleem, Farjah H AlGahtani, Majid Alfadhel
BACKGROUND: Sickle cell disease (SCD) is a monogenic disease that has wide variety of phenotypes with both and environmental factors contributing to its severity. METHODS: We performed whole-exome sequencing (WES) in 22 Saudi SCD patients to identify variants that could explain differences in disease phenotypes. All variants, except those that were benign and likely benign, described in the ClinVar database, were considered in our analysis. Gene-based association testing using sequence kernel association optimal unified test (SKAT-O) with small sample adjustment was performed to evaluate the effect of multiple variants in genes on SCD phenotypes...
September 5, 2018: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/30183349/analysis-of-il17a-and-il21-expression-in-the-small-intestine-of-celiac-disease-patients-and-correlation-with-circulating-thioredoxin-level
#6
Manizhe Faghih, Mohammad Rostami-Nejad, Davar Amani, Amir Sadeghi, Mohamad Amin Pourhoseingholi, Andrea Masotti, Mohammad Reza Zali
AIMS: Th17 cells and their related cytokines play an important role in the pathogenesis of celiac disease (CD), and thioredoxin (Trx) is an extracellular TG2 activity regulator. This study evaluated Trx serum levels and the expression levels of IL17A, IL21, and Trx genes in biopsies of treated (gluten-free diet) and naïve (untreated) CD patients compared with healthy individuals. METHODS: Duodenal biopsies were collected from treated CD patients (n = 60), healthy controls (n = 60), and eight newly diagnosed celiac patients...
September 5, 2018: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/30179527/association-between-complement-factor-c2-c3-cfb-cfh-polymorphisms-and-age-related-macular-degeneration-a-meta-analysis
#7
Feiteng Lu, Shuang Liu, Qingyun Hao, Lixia Liu, Jing Zhang, Xiaolong Chen, Wang Hu, Peng Huang
BACKGROUND: Several previous studies assessed the contribution of polymorphisms in genes encoding the complement factors C2/C3/CFB/CFH to the risk of age-related macular degeneration (AMD), although the results were inconsistent. In this study, we conducted a meta-analysis to systematically review the potential association between complement factor polymorphisms and AMD. METHODS: Studies that investigated associations between C2 (rs547154 and rs9332739), C3 (rs1047286), CFB (rs4151667 and rs641153), and CFH (rs551397 and rs2274700) polymorphisms and AMD were identified by searching PubMed, EMBASE, Web of Science, and Cochrane Library databases for articles published before January 1, 2018...
September 4, 2018: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/30160528/association-of-pai-1-4g-5g-polymorphism-with-ischemic-stroke-in-chinese-patients-with-type-2-diabetes-mellitus
#8
Guohong Li, Yiming Liu, Xiaohong Li, Zhijie Ning, Zihao Sun, Maoxiu Zhang, Yong Lu, Lin Wu, Lingling Wang
BACKGROUND/AIM: To investigate the association of the genetic polymorphisms of the plasminogen activator inhibitor type 1 (PAI-1) gene with the risk of ischemic stroke (IS) in subjects with type 2 diabetes mellitus (T2DM). MATERIALS AND METHODS: Using a case-control study design, 175 individuals with T2D and IS were enrolled in the case group and 125 patients with T2D without IS were enrolled as controls. The clinical characteristics of the groups were compared, and genotypes were determined by direct DNA sequencing...
August 30, 2018: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/30096250/association-of-desmin-gene-variant-rs1058261-with-cardiovascular-disease-the-tamrisk-study
#9
Jaakko Piesanen, Tarja Kunnas, Seppo T Nikkari
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 events in the Tampere adult population cardiovascular risk (TAMRISK) study. MATERIALS AND METHODS: A Finnish periodic health examination cohort of 336 subjects with diagnosed hypertension and 473 controls were analyzed...
August 10, 2018: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/29989442/a-novel-ext1-mutation-identified-in-a-family-with-multiple-osteochondromas
#10
Zhonghua Chen, Qing Bi, Mingxiang Kong, Yu Chen
AIMS: Multiple exostoses (MO), also referred to as hereditary multiple exostoses (HME), is an autosomal dominant inherited skeletal disorder that has been found to be associated with mutations in the EXT1 and EXT2 genes. In the present study, we report a Chinese family with HME and undertake a mutational analysis of the EXT1 and EXT2 genes in affected and unaffected individuals. METHODS: All exons of the EXT1 and EXT2 genes in seven members of the family were polymerase chain reaction amplified from blood and sequenced...
July 10, 2018: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/30117779/association-between-matrix-metalloproteinase-1-2-3-polymorphisms-and-oral-cancer-risk-a-meta-analysis
#11
Yingcai Li, Yuqian Wang, Hongyan Sun, Yan Zhang, Hui Li, Xianling Cong, Wanzhong Yin, Wenzhi Song
PURPOSE: Numerous studies have estimated the association between matrix metalloproteinases (MMPs) polymorphisms and the risk of oral cancer; the results, however, are inconsistent and conflicting. Therefore, we conducted a meta-analysis to evaluate the association of MMP-1, 2, and 3 polymorphisms with oral cancer risk. METHODS: A computerized literature search was conducted of electronic databases and search engines. Odds ratios (OR) and 95% confidence intervals (CI) were calculated for each gene, and the heterogeneity among studies was estimated using the Q-test and I2 values...
August 2018: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/30117778/mutation-screening-of-the-eda-gene-in-seven-chinese-families-with-x-linked-hypohidrotic-ectodermal-dysplasia
#12
Yanshan Liu, Yingzhi Huang, Rui Hua, Xiuli Zhao, Wei Yang, Yaping Liu, Xue Zhang
BACKGROUND: As the most common form of ectodermal dysplasia (ED), X-linked hypohidrotic ED (XLHED) is characterized by the triad of hypohidrosis, hypotrichosis, and anodontia in male patients. The gene responsible for XLHED is EDA. To date, more than 300 mutations have been identified in this gene, including point mutations, deletions, and insertions. Most of the mutations result in XLHED, while the rest cause X-linked dominant incisor hypodontia. OBJECTIVE: Mutation screening was performed in seven Chinese families with XLHED...
August 2018: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/30117777/a-preliminary-study-on-metadherin-as-a-potential-marker-for-progression-of-diffuse-large-b-cell-lymphoma
#13
Xueling Ge, Xiaohui Sui, Xiaosheng Fang, Yujie Jiang, Mei Ding, Xin Liu, Xin Wang
AIMS: To determine if Metadherin (MTDH) expression levels are positively correlated with the clinical stage of diffuse large B-cell lymphoma (DLBCL) based on MTDH being highly expressed in other type of tumors including melanoma, malignant glioma, breast cancer, and hepatocellular carcinoma. In this study, we investigated the pathologic significance of MTDH and its potential in predicting DLBCL outcomes. MATERIALS AND METHODS: Tissue samples from 50 patients with DLBCL and 22 patients with lymph node reactive hyperplasia were collected and evaluated using immunohistochemical staining, microscopy, and western blotting...
August 2018: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/30117776/reuniting-families-using-genetic-testing
#14
Erin N Oliphant, Sharon F Terry
No abstract text is available yet for this article.
August 2018: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/30048161/identification-of-three-novel-fbn1-mutations-and-their-phenotypic-relationship-of-marfan-syndrome
#15
Gulsum Kayhan, Mehmet Ali Ergun, Sezen Guntekin Ergun, Serdar Kula, Ferda E Percin
BACKGROUND: Marfan syndrome (MS), a connective tissue disorder that affects ocular, skeletal, and cardiovascular systems, is caused by heterozygous pathogenic variants in FBN1. To date, over 1800 different pathogenic variants have been reported. METHODS: In the present study, FBN1 sequence analysis was performed in a family and two unrelated patients with MS. RESULTS: Three novel pathogenic variants were detected. Two of these variants [c...
August 2018: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/30044143/the-first-molecular-screening-of-mlh1-and-msh2-genes-in-moroccan-colorectal-cancer-patients-shows-a-relatively-high-mutational-prevalence
#16
Fatima Zahra Moufid, Laila Bouguenouch, Ihssane El Bouchikhi, Laila Chbani, Mohamed Iraqui Houssaini, Mohamed Sekal, Khadija Belhassan, Bahia Bennani, Karim Ouldim
INTRODUCTION: Lynch syndrome (LS) is an autosomal dominant disorder characterized by early age of onset and increased risk of developing extracolonic tumors. Molecular diagnosis of LS requires identification of germline mutations in one of the Mismatch Repair (MMR) genes. AIM: The objective of the study was to investigate the prevalence of MLH1/MSH2 mutation carriers among Moroccan patients with colorectal cancer (CRC) in a hospital-based cohort. METHODS: In this study, 214 CRC patients from COLORECFez cohort were included...
August 2018: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/30044130/association-between-the-snp-rs143383-104t-c-in-the-gdf5-gene-and-the-risk-of-knee-osteoarthritis-in-a-population-from-northern-mexico-a-case-control-study
#17
Francisco García-Alvarado, Manuel Rosales-González, Daniel Arellano-Pérez-Vertti, Perla Espino-Silva, Maria Meza-Velazquez, Pablo Ruiz-Flores
BACKGROUND: Previous studies have found an association between the SNP rs143383 + 104T/C in the growth differentiation factor 5 (GDF5) gene and the risk of developing knee osteoarthritis (KOA) in various populations worldwide. OBJECTIVE: To discover if there is an association between the SNP rs143383 + 104T/C, in the GDF5 gene and the risk of developing KOA in individuals from northern Mexico. METHODS: We used a case-control study format that included 145 patients with KOA and 145 healthy controls unrelated to patients...
August 2018: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/30036075/the-nonsynonymous-polymorphisms-val276met-and-gly393ser-of-e2f1-gene-are-strongly-associated-with-lung-and-head-and-neck-cancers
#18
Sanjay Singh, Manish Gupta, Ambika Sharma, Rajeev Kumar Seam, Harish Changotra
AIM: The early gene factor-2 (E2F), a family of transcription factors, is involved in cell cycle regulation. Deregulated expression of most of the members of the E2F family is associated with various human cancers. In this study, we investigated the association between the E2F1 genetic variants rs3213173 (C/T) (Val276Met) and rs3213176 (G/A) (Gly393Ser) with the risk of lung cancer (LC) and head and neck cancer (HNC) in 190 patients and 230 control samples. MATERIALS AND METHODS: We used polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and mutagenic primer-based PCR-RFLP methods to genotype all target polymorphisms...
August 2018: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/30004262/associations-between-mtr-a2756g-mtrr-a66g-and-tcn2-c776g-polymorphisms-and-risk-of-nonsyndromic-cleft-lip-with-or-without-cleft-palate-a-meta-analysis
#19
Wei Lei, Yinlan Xia, Yang Wu, Gang Fu, Aishu Ren
OBJECTIVE: We conducted a meta-analysis to investigate the associations of methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, and transcobalamin 2 (TCN2) C776G gene polymorphisms with nonsyndromic cleft lip with or without cleft palate (NSCL/P). MATERIALS AND METHODS: The PubMed, Web of Science, Embase, and Wiley Online Library databases and the China Biomedical Literature Service System (SinoMed) were searched for relevant articles to explore the associations between the MTR A2756G, MTRR A66G, and TCN2 C776G polymorphisms and the risk of NSCL/P...
August 2018: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/30020835/application-of-single-tube-tri-primer-arms-pcr-to-detect-the-nfkb1-attg-insertion-deletion-polymorphism
#20
Jiashuo Chao, Lina Chai, Xiaolong Yin, Zhongqin Zhou, Suming Xu, Weifeng Zhu, Yan Deng
AIMS: The -94 ATTG insertion/deletion polymorphism (rs28362491) is an important functional polymorphism in the NFKB1 gene. It has been shown that rs28362491 is associated with many diseases. The purpose of this study was to establish a simple and reliable method to detect the ATTG insertion/deletion polymorphism. METHODS: On the basis of the amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) method, a single-tube tri-primer ARMS-PCR method was developed to detect the ATTG insertion/deletion polymorphism in 93 samples...
July 2018: Genetic Testing and Molecular Biomarkers
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