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Marilena Nakaguma, Fernanda A Correa, Lucas S Santana, Anna F F Benedetti, Ricardo V Perez, Martha K P Huayllas, Mirta B Miras, Mariana F A Funari, Antonio M Lerario, Berenice B Mendonca, Luciani R S Carvalho, Alexander A L Jorge and Ivo J P Arnhold

were not analysed in the entire cohort. Moreover, as the clinical phenotype is highly variable, we cannot assure that all possible causative genes were excluded ( 4 ). The use of massive parallel sequencing, mostly targeted sequencing panel or whole

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Tiemo S Gerber, Arno Schad, Nils Hartmann, Erik Springer, Ulrich Zechner and Thomas J Musholt

(NGS) approach, we screened 23 PDTC for variants in 48 cancer-relevant genes. The main goal addressed in this exploratory study was to characterise novel genetic changes as potential targets for further research as well as establishing the NGS technique

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L A Hughes, K McKay-Bounford, E A Webb, P Dasani, S Clokie, H Chandran, L McCarthy, Z Mohamed, J M W Kirk, N P Krone, S Allen and T R P Cole

(TSCA, Illumina Inc) 30-gene panel run on the MiSeq (Illumina Inc). Exons were targeted with 25 base pairs of padding on either side, resulting in 431 amplicons of 425 bp. Enrichment was performed on 250 ng of genomic DNA and sequencing was done using

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Bingbing Wang, Mayra Cruz Ithier, Nataliya Parobchak, Stacy M Yadava, Jay Schulkin and Todd Rosen

, because a recent study in the myometrium revealed that vitamin D can inhibit multiple labor-associated genes including connexin 43 and prostaglandin receptors ( 17 ), which are not NF-ΚB target genes. In the current study, we tested the hypothesis that

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Nancy J Olsen, Ann L Benko and William J Kovacs

encoded Glu n sequence in the protein) is inversely related to the capacity of the receptor to activate a target gene in vitro (13, 14, 15, 16) . AR signaling capacity in vitro diminishes by an average of 1.7% for each additional CAG repeat within

Open access

Yali Cheng, Qiaoying Lv, Bingying Xie, Bingyi Yang, Weiwei Shan, Chengcheng Ning, Bing Li, Liying Xie, Chao Gu, Xuezhen Luo, Xiaojun Chen and Qin Zhu

replicates were subjected to gene expression analysis using the Affymetrix GeneChip Mouse Transcriptome Array 1.0 by GMINIX (Shanghai, China). A stringent significance threshold ( P <0.05) and false discovery rate (FDR < 0.05) were used to limit the number

Open access

Barbora Pekova, Sarka Dvorakova, Vlasta Sykorova, Gabriela Vacinova, Eliska Vaclavikova, Jitka Moravcova, Rami Katra, Petr Vlcek, Pavla Sykorova, Daniela Kodetova, Josef Vcelak and Bela Bendlova

and few selected numbers of genetic alterations were investigated. Recently, studies with larger cohorts of pediatric patients have appeared with enlarging the spectrum of investigated genetic mutations using NGS panels to find mutations or gene

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Sarah J Delforce, Eugenie R Lumbers, Celine Corbisier de Meaultsart, Yu Wang, Anthony Proietto, Geoffrey Otton, Jim Scurry, Nicole M Verrills, Rodney J Scott and Kirsty G Pringle

adjacent non-cancerous endometrium. To determine the associations between particular RAS genes and putative downstream targets, Spearman’s non-parametric correlations were used. If a sample had undetectable levels of mRNA, a value of 1 × 10 −5 was

Open access

Magnolia Ariza-Nieto, Joshua B Alley, Sanjay Samy, Laura Fitzgerald, Francoise Vermeylen, Michael L Shuler and José O Alemán

performed in triplicates of 10 µL reactions using Roche LightCycler 480 and ready-to-use SYBR Green 1 master (Roche Cat # 04707516001). Primers for target genes are as follows: DNA (cytosine-5)-methyltransferase 1 (DNTM1, Qiagen Cat # Qbib34335). Relative

Open access

Zofia Kolesinska, James Acierno Jr, S Faisal Ahmed, Cheng Xu, Karina Kapczuk, Anna Skorczyk-Werner, Hanna Mikos, Aleksandra Rojek, Andreas Massouras, Maciej R Krawczynski, Nelly Pitteloud and Marek Niedziela

improved the diagnostic yield ( 6 , 9 ). While whole-exome and/or genome sequencing (WES/WGS) are still reserved for the research environment, targeted gene panels are becoming widely used in the diagnostic algorithms of 46,XY DSD on a routine basis ( 10