Search Results - "SCHERER, Steven E"

Compound and Digenic Heterozygosity Contributes to Arrhythmogenic Right Ventricular Cardiomyopathy by Xu, Tianhong, PhD, Yang, Zhao, MD, PhD, Vatta, Matteo, PhD, Rampazzo, Alessandra, MD, PhD, Beffagna, Giorgia, PhD, Pillichou, Kalliopi, PhD, Scherer, Steven E., PhD, Saffitz, Jeffrey, MD, PhD, Kravitz, Joshua, BS, Zareba, Wojciech, MD, Danieli, Gian Antonio, PhD, Lorenzon, Alessandra, PhD, Nava, Andrea, MD, Bauce, Barbara, MD, PhD, Thiene, Gaetano, MD, Basso, Cristina, MD, PhD, Calkins, Hugh, MD, Gear, Kathy, RN, Marcus, Frank, MD, Towbin, Jeffrey A., MD

“…Objectives The aim of this study was to define the genetic basis of arrhythmogenic right ventricular cardiomyopathy (ARVC). Background Arrhythmogenic right…”
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High frequency of PIK3R1 and PIK3R2 mutations in endometrial cancer elucidates a novel mechanism for regulation of PTEN protein stability by Cheung, Lydia W T, Hennessy, Bryan T, Li, Jie, Yu, Shuangxing, Myers, Andrea P, Djordjevic, Bojana, Lu, Yiling, Stemke-Hale, Katherine, Dyer, Mary D, Zhang, Fan, Ju, Zhenlin, Cantley, Lewis C, Scherer, Steven E, Liang, Han, Lu, Karen H, Broaddus, Russell R, Mills, Gordon B

“…We demonstrate that phosphatidylinositol 3-kinase (PI3K) pathway aberrations occur in >80% of endometrioid endometrial cancers, with coordinate mutations of…”
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Accuracy and applications of sequencing and genotyping approaches for CYP2A6 and homologous genes by Langlois, Alec W.R., El-Boraie, Ahmed, Fukunaga, Koya, Mushiroda, Taisei, Kubo, Michiaki, Lerman, Caryn, Knight, Jo, Scherer, Steven E., Chenoweth, Meghan J., Tyndale, Rachel F.

“…We evaluated multiple genotyping/sequencing approaches in a homologous region of chromosome 19, and investigated associations of two common 3'-UTR CYP2A6…”
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Cohort Profile: The Right Drug, Right Dose, Right Time: Using Genomic Data to Individualize Treatment Protocol (RIGHT Protocol) by Bielinski, Suzette J, St Sauver, Jennifer L, Olson, Janet E, Larson, Nicholas B, Black, John L, Scherer, Steven E, Bernard, Matthew E, Boerwinkle, Eric, Borah, Bijan J, Caraballo, Pedro J, Curry, Timothy B, Doddapaneni, HarshaVardhan, Formea, Christine M, Freimuth, Robert R, Gibbs, Richard A, Giri, Jyothsna, Hathcock, Matthew A, Hu, Jianhong, Jacobson, Debra J, Jones, Leila A, Kalla, Sara, Koep, Tyler H, Korchina, Viktoriya, Kovar, Christie L, Lee, Sandra, Liu, Hongfang, Matey, Eric T, McGree, Michaela E, McAllister, Tammy M, Moyer, Ann M, Muzny, Donna M, Nicholson, Wayne T, Oyen, Lance J, Qin, Xiang, Raj, Ritika, Roger, Véronique L, Rohrer Vitek, Carolyn R, Ross, Jason L, Sharp, Richard R, Takahashi, Paul Y, Venner, Eric, Walker, Kimberly, Wang, Liwei, Wang, Qiaoyan, Wright, Jessica A, Wu, Tsung-Jung, Wang, Liewei, Weinshilboum, Richard M

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Deep sequencing of candidate genes identified 14 variants associated with smoking abstinence in an ethnically diverse sample by Cinciripini, Paul M., Wetter, David W., Wang, Jian, Yu, Robert, Kypriotakis, George, Kumar, Tapsi, Robinson, Jason D., Cui, Yong, Green, Charles E., Bergen, Andrew W., Kosten, Thomas R., Scherer, Steven E., Shete, Sanjay

“…Despite the large public health toll of smoking, genetic studies of smoking cessation have been limited with few discoveries of risk or protective loci. We…”
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Whole-Organ Genomic Characterization of Mucosal Field Effects Initiating Bladder Carcinogenesis by Majewski, Tadeusz, Yao, Hui, Bondaruk, Jolanta, Chung, Woonbok, Lee, Sangkyou, Lee, June Goo, Zhang, Shizhen, Cogdell, David, Yang, Guoliang, Choi, Woonyoung, Dinney, Colin, Grossman, H. Barton, Logothetis, Christopher, Scherer, Steven E., Guo, Charles C., Zhang, Li, Wei, Peng, Weinstein, John N., Issa, Jean-Pierre, Baggerly, Keith, McConkey, David J., Czerniak, Bogdan

“…We used whole-organ mapping to study the locoregional molecular changes in a human bladder containing multifocal cancer. Widespread DNA methylation changes…”
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Pharmacogenomics of Nicotine Metabolism: Novel CYP2A6 and CYP2B6 Genetic Variation Patterns in Alaska Native and American Indian Populations by Claw, Katrina G, Beans, Julie A, Lee, Seung-Been, Avey, Jaedon P, Stapleton, Patricia A, Scherer, Steven E, El-Boraie, Ahmed, Tyndale, Rachel F, Nickerson, Deborah A, Dillard, Denise A, Thummel, Kenneth E, Robinson, Renee F

“…Abstract Introduction Alaska Native and American Indian (AN/AI) populations have higher tobacco use prevalence than other ethnic/racial groups. Pharmacogenetic…”
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Prediction of cochlear implant performance by genetic mutation: The spiral ganglion hypothesis by Eppsteiner, Robert W., Shearer, A. Eliot, Hildebrand, Michael S., DeLuca, Adam P., Ji, Haihong, Dunn, Camille C., Black-Ziegelbein, Elizabeth A., Casavant, Thomas L., Braun, Terry A., Scheetz, Todd E., Scherer, Steven E., Hansen, Marlan R., Gantz, Bruce J., Smith, Richard J.H.

“…Up to 7% of patients with severe-to-profound deafness do not benefit from cochlear implantation. Given the high surgical implantation and clinical management…”
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Desmosomal Dysfunction due to Mutations in Desmoplakin Causes Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy by Yang, Zhao, Bowles, Neil E, Scherer, Steven E, Taylor, Michael D, Kearney, Debra L, Ge, Shuping, Nadvoretskiy, Vyacheslav V, DeFreitas, Gilberto, Carabello, Blasé, Brandon, Lois I, Godsel, Lisa M, Green, Kathleen J, Saffitz, Jeffrey E, Li, Hua, Danieli, Gian Antonio, Calkins, Hugh, Marcus, Frank, Towbin, Jeffrey A

“…Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is characterized by progressive degeneration of the right ventricular myocardium,…”
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Differentially expressed gene transcripts using RNA sequencing from the blood of immunosuppressed kidney allograft recipients by Dorr, Casey, Wu, Baolin, Guan, Weihua, Muthusamy, Amutha, Sanghavi, Kinjal, Schladt, David P, Maltzman, Jonathan S, Scherer, Steven E, Brott, Marcia J, Matas, Arthur J, Jacobson, Pamala A, Oetting, William S, Israni, Ajay K

“…We performed RNA sequencing (RNAseq) on peripheral blood mononuclear cells (PBMCs) to identify differentially expressed gene transcripts (DEGs) after kidney…”
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Blood pressure signature genes and blood pressure response to thiazide diuretics: results from the PEAR and PEAR-2 studies by Sá, Ana Caroline C, Webb, Amy, Gong, Yan, McDonough, Caitrin W, Shahin, Mohamed H, Datta, Somnath, Langaee, Taimour Y, Turner, Stephen T, Beitelshees, Amber L, Chapman, Arlene B, Boerwinkle, Eric, Gums, John G, Scherer, Steven E, Cooper-DeHoff, Rhonda M, Sadee, Wolfgang, Johnson, Julie A

“…Recently, 34 genes had been associated with differential expression relative to blood pressure (BP)/ hypertension (HTN). We hypothesize that some of the genes…”
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Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25 by HASHAM, Sumera N, WILLING, Marcia C, GUO, Dong-Chuan, MUILENBURG, Ann, RUMIN HE, TRAN, Van T, SCHERER, Steven E, SHETE, Sanjay S, MILEWICZ, Dianna M

“…Familial thoracic aortic aneurysms and dissections (TAAD) occur as part of known syndromes such as Marfan syndrome but can also be inherited in families in an…”
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Identification of genetic risk variants for deep vein thrombosis by multiplexed next-generation sequencing of 186 hemostatic/pro-inflammatory genes by Lotta, Luca A, Wang, Mark, Yu, Jin, Martinelli, Ida, Yu, Fuli, Passamonti, Serena M, Consonni, Dario, Pappalardo, Emanuela, Menegatti, Marzia, Scherer, Steven E, Lewis, Lora L, Akbar, Humeira, Wu, Yuanqing, Bainbridge, Matthew N, Muzny, Donna M, Mannucci, Pier M, Gibbs, Richard A, Peyvandi, Flora

“…Next-generation DNA sequencing is opening new avenues for genetic association studies in common diseases that, like deep vein thrombosis (DVT), have a strong…”
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Breast cancer chemoprevention pharmacogenomics: Deep sequencing and functional genomics of the ZNF423 and CTSO genes by Liu, Duan, Ho, Ming-Fen, Schaid, Daniel J., Scherer, Steven E., Kalari, Krishna, Liu, Mohan, Biernacka, Joanna, Yee, Vivien, Evans, Jared, Carlson, Erin, Goetz, Matthew P., Kubo, Michiaki, Wickerham, D. Lawrence, Wang, Liewei, Ingle, James N., Weinshilboum, Richard M.

“…Our previous GWAS using samples from the NSABP P-1 and P-2 selective estrogen receptor modulator (SERM) breast cancer prevention trials identified SNPs in…”
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Forerunner genes contiguous to RB1 contribute to the development of in situ neoplasia by Lee, Sangkyou, Jeong, Joon, Majewski, Tadeusz, Scherer, Steven E, Kim, Mi-Sook, Tuziak, Tomasz, Tang, Kuang S, Baggerly, Keith, Grossman, Herbert Barton, Zhou, Jain-Hua, Shen, Lanlan, Bondaruk, Jolanta, Ahmed, Saira S, Samanta, Susmita, Spiess, Philippe, Wu, Xifeng, Filipek, Slawomir, McConkey, David, Bar-Eli, Menashe, Issa, Jean-Pierre, Benedict, William F, Czerniak, Bogdan

“…We used human bladder cancer as a model system and the whole-organ histologic and genetic mapping strategy to identify clonal genetic hits associated with…”
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Genetic Alterations Associated With Progression From Pancreatic Intraepithelial Neoplasia to Invasive Pancreatic Tumor by Murphy, Stephen J, Hart, Steven N, Lima, Joema Felipe, Kipp, Benjamin R, Klebig, Mitchell, Winters, Jennifer L, Szabo, Csilla, Zhang, Lizhi, Eckloff, Bruce W, Petersen, Gloria M, Scherer, Steven E, Gibbs, Richard A, McWilliams, Robert R, Vasmatzis, George, Couch, Fergus J

“…Background & Aims Increasing grade of pancreatic intraepithelial neoplasia (PanIN) has been associated with progression to pancreatic ductal adenocarcinoma…”
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Whole-exome sequencing combined with functional genomics reveals novel candidate driver cancer genes in endometrial cancer by Liang, Han, Cheung, Lydia W T, Li, Jie, Ju, Zhenlin, Yu, Shuangxing, Stemke-Hale, Katherine, Dogruluk, Turgut, Lu, Yiling, Liu, Xiuping, Gu, Chao, Guo, Wei, Scherer, Steven E, Carter, Hannah, Westin, Shannon N, Dyer, Mary D, Verhaak, Roeland G W, Zhang, Fan, Karchin, Rachel, Liu, Chang-Gong, Lu, Karen H, Broaddus, Russell R, Scott, Kenneth L, Hennessy, Bryan T, Mills, Gordon B

“…Endometrial cancer is the most common gynecological malignancy, with more than 280,000 cases occurring annually worldwide. Although previous studies have…”
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Variants in genes coding for collagen type IV α-chains are frequent causes of persistent, isolated hematuria during childhood by Alge, Joseph L., Bekheirnia, Nasim, Willcockson, Alexandra R., Qin, Xiang, Scherer, Steven E., Braun, Michael C., Bekheirnia, Mir Reza

“…Background Children with persistent, isolated microscopic hematuria typically undergo a limited diagnostic workup and are monitored for signs of kidney disease…”
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CYP2C8, CYP2C9, and CYP2C19 Characterization Using Next-Generation Sequencing and Haplotype Analysis: A GeT-RM Collaborative Project by Gaedigk, Andrea, Boone, Erin C, Scherer, Steven E, Lee, Seung-Been, Numanagić, Ibrahim, Sahinalp, Cenk, Smith, Joshua D, McGee, Sean, Radhakrishnan, Aparna, Qin, Xiang, Wang, Wendy Y, Farrow, Emily G, Gonzaludo, Nina, Halpern, Aaron L, Nickerson, Deborah A, Miller, Neil A, Pratt, Victoria M, Kalman, Lisa V

“…Pharmacogenetic tests typically target selected sequence variants to identify haplotypes that are often defined by star (∗) allele nomenclature. Due to their…”
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The Evolution of DNA Sequencing in Pharmacogenomics by Scherer, Steven E., Ph.D

“…SynopsisOver the past few decades, the field of pharmacogenetics has moved from identifying genes, to studying and clinically testing one gene at a time, to…”
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