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Genetic Testing and Molecular Biomarkers

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https://www.readbyqxmd.com/read/28805452/birt-hogg-dube-syndrome-with-a-novel-mutation-in-the-flcn-gene
#1
Gulsum Kayhan, Nilgun Yılmaz Demirci, Haluk Turktas, Mehmet Ali Ergun
BACKGROUND: Birt-Hogg-Dube syndrome (BHDS) is an autosomal dominant disease characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax; its cause is a heterozygous mutation in the FLCN gene. Colorectal polyps and carcinoma have also been reported in BHDS. FLCN mutations can be detected in patients with isolated primary spontaneous pneumothorax (PSP), so PSP may present as part of BHDS. The aim of this report is to enhance awareness that patients presenting with spontaneous PSP should be evaluated for FLCN mutations...
August 14, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28799806/elevated-serum-level-of-ca125-is-a-biomarker-that-can-be-used-to-alter-prognosis-determined-by-brca-mutation-and-family-history-in-ovarian-cancer
#2
Weiling Liu, Zhizhong Wang, Jie Ma, Yangyang Hou, Jiuzhou Zhao, Bing Dong, Shichun Tu, Li Wang, Yongjun Guo
AIMS: In this study, we determined whether serum tumor markers (STMs), including CA125, are associated with BRCA mutation status and if they can be used prognostically in sporadic ovarian cancer (SOC) and familial ovarian cancer (FOC). METHODS: BRCA gene mutations were screened using next-generation sequencing (NGS) in 31 FOC and 66 SOC patients enrolled between 2013 and 2014. The serum levels of STM CEA, CA125, CA199, and HE4 were also measured in these patients to determine the prognostic potential of these markers and their association with BRCA mutations...
August 11, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28783370/association-between-polymorphisms-of-the-mannose-binding-lectin-and-severity-of-periportal-fibrosis-in-schistosomiasis-in-the-northeast-of-brazil
#3
Taynan da Silva Constantino, Elker Lene Santos de Lima, Lidiane Régia Pereira Braga de Brito, Jamile Luciana Silva, Maria Rosângela Cunha Duarte Coêlho, Maria Tereza Cartaxo Muniz, Paula Carolina Valença Silva, Ana Lúcia Coutinho Domingues
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 periportal fibrosis (PPF), and that these polymorphisms affect the MBL serum levels. MATERIALS AND METHODS: In this cross-sectional study we genotyped these polymorphisms within the MBL2 gene in 229 Brazilian subjects infected with Schistosoma mansoni, with different patterns of PPF...
August 7, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28777012/association-of-common-variants-in-tgfa-with-increased-risk-of-knee-osteoarthritis-susceptibility
#4
Guofeng Cui, Rong Wei, Dan Liu, Haojie Yang, Junlong Wu, Lihong Fan, Kunzheng Wang
OBJECTIVE: Osteoarthritis (OA) is a complex degenerative joint disorder, which has contributions from both environmental and genetic factors. Several recent publications have established the connection between hip OA susceptibility and genetic markers within the TGFA gene, however, the relationship of these markers with knee OA has not been elucidated. Therefore, the present study was designed to investigate the potential linkage between common variants of the TGFA gene with knee OA in a large sample of Han Chinese individuals...
August 4, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28768142/contributions-of-ikzf1-ddc-cdkn2a-cebpe-and-lmo1-gene-polymorphisms-to-acute-lymphoblastic-leukemia-in-a-yemeni-population
#5
Boshra Al-Absi, Muhammad F M Razif, Suzita M Noor, Riyadh Saif-Ali, Mohammed Aqlan, Sameer D Salem, Radwan H Ahmed, Sekaran Muniandy
BACKGROUND: Genome-wide and candidate gene association studies have previously revealed links between acute lymphoblastic leukemia (ALL) predisposition and genetic polymorphisms in these genes: IKZF1 (7p12.2; ID: 10320), DDC (7p12.2; ID: 1644), CDKN2A (9p21.3; ID: 1029), CEBPE (14q11.2; ID: 1053), and LMO1 (11p15; ID: 4004). In this study, we aimed to conduct an investigation into the possible association between polymorphisms in these genes and ALL within a sample of Yemeni children of Arab-Asian descent...
August 2, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28753073/evaluating-the-association-of-common-variants-of-the-slc44a4-gene-with-ulcerative-colitis-susceptibility-in-the-han-chinese-population
#6
Jie Wu, Yan Cheng, Rong Zhang, Hao Shen, Li Ma, Jun Yang, Yanting Zhang, Jun Zhang
OBJECTIVE: The SLC44A4 gene was recently reported to be associated with ulcerative colitis (UC) susceptibility in the Indian and Japanese populations. The aim of our study was to investigate the association of common variants within the SLC44A4 gene and the susceptibility to UC among the Han Chinese. METHODS: We examined 16 tag single nucleotide polymorphisms (SNPs) within the SLC44A4 gene in a Han Chinese population that consisted of 311 UC patients and 675 healthy controls; both SNP and haplotypic association analyses were performed...
July 28, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28704105/role-of-the-polymorphisms-of-uncoupling-protein-genes-in-childhood-obesity-and-their-association-with-obesity-related-disturbances
#7
Ali Gul, Ömer Ateş, Samet Özer, Tuba Kasap, Emel Ensari, Osman Demir, Ergün Sönmezgöz
BACKGROUND: Obesity, one of the most common disorders observed in clinical practice, has been associated with energy metabolism-related protein genes such as uncoupling proteins (UCPs). Herein, we evaluated UCPs as candidate genes for obesity and its morbidities. METHODS: A total of 268 obese and 185 nonobese children and adolescents were enrolled in this study. To determine dyslipidemia, hypertension, and insulin resistance, laboratory tests were derived from fasting blood samples...
July 13, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28817340/the-half-life-of-serum-thymidine-kinase-1-concentration-is-an-important-tool-for-monitoring-surgical-response-in-patients-with-lung-cancer-a-meta-analysis
#8
Xudan Lou, Ji Zhou, Hongbo Ma, Shuai Xu, Ellen He, Sven Skog, Haidong Wang
AIMS: In this meta-analysis, we evaluated the usefulness of serum thymidine kinase 1 concentration (STK1c) for monitoring the outcome of extensive open surgery in patients with lung cancer. We also compared STK1c between a healthy population and patients with benign and malignant lung tumors to assess its potential value for early detection of lung cancer and for distinguishing between benign lung disease and malignant cancer. MATERIALS AND METHODS: Related studies were retrieved from publications in PubMed, Cochrane, China National Knowledge Infrastructure, Wanfang databases, and Internet searches...
August 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28817339/changing-of-the-guard-at-gtmb
#9
Garth D Ehrlich
No abstract text is available yet for this article.
August 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28753063/association-between-adrb2-genetic-polymorphisms-and-the-risk-of-chronic-obstructive-pulmonary-disease-a-case-control-study-in-a-chinese-population
#10
Hui Zhao, Xuan Wu, Chun-Ling Dong, Bi-Ying Wang, Jiao Zhao, Xian-E Cao
OBJECTIVE: This study was designed to investigate the association between single nucleotide polymorphisms (SNPs) of the β2-adrenergic receptor (ADRB2) gene and the risk of chronic obstructive pulmonary disease (COPD) in a Chinese population. METHODS: From January 2010 to October 2014, 261 COPD patients were selected as the case group and 239 healthy subjects were selected as the control group. Pulmonary function tests were performed to detect forced vital capacity (FVC), 1-s forced expiratory volume (FEV1), and FEV1/FVC (%)...
August 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28723299/support-for-disease-only-genotypes-and-excess-of-homozygosity-at-the-cyth4-primate-specific-gttt-repeat-in-schizophrenia
#11
Ehteram Khademi, Elham Alehabib, Ehsan Esmaili Shandiz, Azadeh Ahmadifard, Monavvar Andarva, Javad Jamshidi, Simin Rahimi-Aliabadi, Ramin Pouriran, Farhad Ramezani Nejad, Nader Mansoori, Neda Shahmohammadibeni, Shaghyegh Taghavi, Parasto Shokraeian, Haleh Akhavan-Niaki, Coro Paisán-Ruiz, Hossein Darvish, Mina Ohadi
OBJECTIVE: The role of short tandem repeats (STRs) in the control of gene expression among species is being increasingly understood following the identification of several instances in which certain STRs occur identically, or expand differentially, in primates versus nonprimates. These STRs may regulate genes that participate in characteristics that are associated with the divergence of primates from sibling orders (e.g., brain higher order functions). The CYTH4 gene contains the longest tetranucleotide STR in its core promoter, at 7-repeats, and links to the evolution of human and nonhuman primates...
August 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28708432/epigenetic-changes-of-the-esr1-gene-in-breast-tissue-of-healthy-women-a-missing-link-with-breast-cancer-risk-factors
#12
Abdolreza Daraei, Pantea Izadi, Ghasemali Khorasani, Nahid Nafissi, Mohammad Mehdi Naghizadeh, Nasim Younosi, Alipasha Meysamie, Yaser Mansoori, Milad Bastami, Javad Tavakkoly-Bazzaz
BACKGROUND: Reproductive history and obesity are among the well-recognized risk factors in the development of breast cancer, which are partially mediated by the increased exposure of breast tissues to estrogens. However, only a few studies have investigated the link between these risk factors and the pattern of methylation signatures in the breast tissue of healthy women. The role of the estrogen receptor 1 (ESR1) gene hypermethylation is reportedly important in the development of breast cancer...
August 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28696792/direct-to-consumer-genetic-testing-and-orphan-drug-development
#13
Matthew Mason, James Levenson, John Quillin
Since the introduction of the Orphan Drug Act (ODA) in 1983, orphan drug approvals in the United States have jumped from <100 per decade to over 200 per year. This growth is widely attributed to the financial incentives the ODA gives to companies that develop these medicines, and it is likely to continue for a unique reason: partnerships between pharmaceutical firms and direct-to-consumer (DTC) genetic testing companies. This emerging trend is the subject of this article, which begins by considering how rare-disease drugs are regulated and the rising interest in nonclinical genetic testing...
August 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28686058/genetic-associations-and-interactions-between-the-nr3c1-gr-and-nr3c2-mr-genes-and-aggressive-behavior-in-a-central-south-chinese-han-population
#14
Jianming Li, Liang Tang, Yan Wang, Fang Li, Meihua Bao, Ju Xiang, Deliang Lei, Beisha Tang
AIMS: The glucocorticoid receptor (GR) and mineralocorticoid receptor (MR) play important roles in the hypothalamic-pituitary-adrenal axis and stress regulation. The current study aimed to address the genetic association and gene-gene interactions between GR and MR gene polymorphisms and aggressive behavior. METHODS: A haplotype-based, case-control study was designed to examine the association between human MR and GR genes and aggressive behaviors, including robbery and intentional interpersonal injury, in a central south Chinese Han population...
August 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28665696/association-analysis-of-single-nucleotide-polymorphisms-in-c1qtnf6-rac2-and-an-intergenic-region-at-14q32-2-with-graves-disease-in-chinese-han-population
#15
Xiao-Hong Zhang, Min Shen, Lin Liu, Fa-Mei Li, Peng-Chen Hu, Qi Hua, Jing Zhang, Li-Nan Pang, Hong-Wen Lu, Zhi-Min Wang, Xun Chu, Wei Huang
BACKGROUND: Variation within the C1QTNF6 gene at 22q12.3, the RAC2 gene at 22q13.1, and an intergenic region at 14q32.2 were found to be associated with risk to Graves' disease (GD) in a recent study. We aimed to validate these associations with GD in an independent sample set of Han Chinese population. METHODS: We investigated these associations by genotyping the most significantly associated single nucleotide polymorphisms (SNPs) located in these three regions...
August 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28650671/association-of-ccr2-190-g-a-gene-variants-and-ovarian-cancer-severity
#16
Gazi Yildirim, Rukset Attar, Seda Gulec-Yilmaz, Selvi Duman, Turgay Isbir
AIM: Chemokines and their receptors play an important role in tumor progression. In the current study, we aimed to determine the association between the CCR2 gene (+190 G/A) polymorphism and ovarian cancer severity. METHODS: CCR2 (+190 G/A) genotyping was performed using real-time polymerase chain reaction for DNA isolated from blood samples from a cohort of patients with ovarian cancer (n = 44) and a control group (n = 45). RESULTS: The CCR2 (+190 G/A) GG genotype frequencies for patients were significantly higher in the stage III-IV cancer group (p = 0...
August 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28650670/the-sdf1-a-g-gene-variant-a-susceptibility-variant-for-myocardial-infarction
#17
Yaser Mansoori, Abdolreza Daraei, Zahra Zendebad, Farzan Madadizadeh, Behnam Mansoori, Mohammad Mehdi Naghizadeh, Farzaneh Darbeheshti
BACKGROUND: Although environmental factors play an important role in susceptibility to myocardial infarction (MI), genetic determinants also provide a significant contribution. This study aimed to determine whether or not MI susceptibility is influenced by the SDF1-rs1801157A/G and HHEX-rs1111875 A/G polymorphisms in an Iranian population. METHODS: A total of 120 patients with MI and 120 healthy controls were enrolled. Blood samples were collected from all the participants for genomic DNA extraction and testing...
August 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28609193/dna-methylome-profiling-on-the-infinium-humanmethylation450-array-from-limiting-quantities-of-genomic-dna-from-a-single-small-archived-bloodspot
#18
Kripa Asrani, Gary M Shaw, Jasper Rine, Nicholas J Marini
AIMS: Archived newborn bloodspots are valuable sample collections for genetic and epigenetic disease research. However, they have often been stored for long periods of time, under less than ideal circumstances, and nucleic acid yields can be low, particularly when samples become limiting. We wished to determine whether the quantity and quality of genomic DNA (gDNA) isolated from a single, surgical bloodspot punch (2 mm dia.) was adequate for accurate and reliable DNA methylome profiling on the Illumina HumanMethylation450 array...
August 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28715288/an-evidence-framework-for-genetic-testing
#19
Sharon F Terry
No abstract text is available yet for this article.
July 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28650667/gender-specific-association-between-fgfr4-gly388arg-gene-variants-and-hypertension
#20
Nasser M Al-Daghri, Abdul Khader Mohammed, Omar S Al-Attas, Hossam M Draz, Majed S Alokail
AIMS: Variations in fibroblast growth factor (FGF) levels have been associated with alterations in blood pressure. FGFs mediate their function through binding to their FGF receptor (FGFR). The FGFR4 Gly388Arg polymorphism is associated with cancer and cardiovascular diseases, but its association with hypertension is unclear. Here, we aimed to investigate the association between the FGFR4 Gly388Arg polymorphism and hypertension. MATERIALS AND METHODS: Three hundred Saudi individuals (150 normotensive controls and 150 hypertensive subjects) were genotyped for the FGFR4 Gly388Arg (G/A) polymorphism using polymerase chain reaction-restriction fragment length polymorphism method...
July 2017: Genetic Testing and Molecular Biomarkers
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