Search Results - "GOWAN, Katherine"

Comparison of Molecular Testing Modalities for Detection of ROS1 Rearrangements in a Cohort of Positive Patient Samples by Davies, Kurtis D, Le, Anh T, Sheren, Jamie, Nijmeh, Hala, Gowan, Katherine, Jones, Kenneth L, Varella-Garcia, Marileila, Aisner, Dara L, Doebele, Robert C

“…ROS1 gene fusions are a well-characterized class of oncogenic driver found in approximately 1% to 2% of NSCLC patients. ROS1-directed therapy in these patients…”
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Resistance Mechanisms to Targeted Therapies in ROS1 + and ALK + Non-small Cell Lung Cancer by McCoach, Caroline E, Le, Anh T, Gowan, Katherine, Jones, Kenneth, Schubert, Laura, Doak, Andrea, Estrada-Bernal, Adriana, Davies, Kurtis D, Merrick, Daniel T, Bunn, Jr, Paul A, Purcell, W Tom, Dziadziuszko, Rafal, Varella-Garcia, Marileila, Aisner, Dara L, Camidge, D Ross, Doebele, Robert C

“…Despite initial benefit from tyrosine kinase inhibitors (TKIs), patients with advanced non-small cell lung cancer (NSCLC) harboring (ALK ) and (ROS1 ) gene…”
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NLRP1 haplotypes associated with vitiligo and autoimmunity increase interleukin-1β processing via the NLRP1 inflammasome by Levandowski, Cecilia B., Mailloux, Christina M., Ferrara, Tracey M., Gowan, Katherine, Ben, Songtao, Jin, Ying, McFann, Kimberly K., Holland, Paulene J., Fain, Pamela R., Dinarello, Charles A., Spritz, Richard A.

“…Nuclear localization leucine-rich-repeat protein 1 (NLRP1) is a key regulator of the innate immune system, particularly in the skin where, in response to…”
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In vivo interferon-gamma induced changes in gene expression dramatically alter neutrophil phenotype by Ambruso, Daniel R, Briones, Natalie J, Baroffio, Angelina F, Murphy, John R, Tran, Alexander D, Gowan, Katherine, Sanford, Bridget, Ellison, Michael, Jones, Kenneth L

“…The cytokine Interferon-γ (IFN-γ) exerts powerful immunoregulatory effects on the adaptive immune system and also enhances functions of the neutrophil (PMN)…”
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Development of new preclinical models to advance adrenocortical carcinoma research by Kiseljak-Vassiliades, Katja, Zhang, Yu, Bagby, Stacey M, Kar, Adwitiya, Pozdeyev, Nikita, Xu, Mei, Gowan, Katherine, Sharma, Vibha, Raeburn, Christopher D, Albuja-Cruz, Maria, Jones, Kenneth L, Fishbein, Lauren, Schweppe, Rebecca E, Somerset, Hilary, Pitts, Todd M, Leong, Stephen, Wierman, Margaret E

“…Adrenocortical cancer (ACC) is an orphan malignancy that results in heterogeneous clinical phenotypes and molecular genotypes. There are no curative treatments…”
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Elucidating the Role of the Maternal Embryonic Leucine Zipper Kinase in Adrenocortical Carcinoma by Kiseljak-Vassiliades, Katja, Zhang, Yu, Kar, Adwitiya, Razzaghi, Raud, Xu, Mei, Gowan, Katherine, Raeburn, Christopher D, Albuja-Cruz, Maria, Jones, Kenneth L, Somerset, Hilary, Fishbein, Lauren, Leong, Stephen, Wierman, Margaret E

“…Abstract Adrenocortical carcinoma (ACC) is an aggressive cancer with a 5-year survival rate <35%. Mortality remains high due to lack of targeted therapies…”
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FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy by Begay, Rene L., BS, Tharp, Charles A., MD, Martin, August, Graw, Sharon L., PhD, Sinagra, Gianfranco, MD, Miani, Daniela, MD, Sweet, Mary E., BA, Slavov, Dobromir B., PhD, Stafford, Neil, MD, Zeller, Molly J, Alnefaie, Rasha, Rowland, Teisha J., PhD, Brun, Francesca, MD, Jones, Kenneth L., PhD, Gowan, Katherine, Mestroni, Luisa, MD, Garrity, Deborah M., PhD, Taylor, Matthew R.G., MD, PhD

“…Summary A genetic etiology has been identified in 30% to 40% of dilated cardiomyopathy (DCM) patients, yet only 50% of these cases are associated with a known…”
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Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy by Campbell, Nzali, Sinagra, Gianfranco, Jones, Kenneth L, Slavov, Dobromir, Gowan, Katherine, Merlo, Marco, Carniel, Elisa, Fain, Pamela R, Aragona, Pierluigi, Di Lenarda, Andrea, Mestroni, Luisa, Taylor, Matthew R G

“…Dilated cardiomyopathy (DCM) commonly causes heart failure and shows extensive genetic heterogeneity that may be amenable to newly developed next-generation…”
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Crossinhibitory Activities of Ngn1 and Math1 Allow Specification of Distinct Dorsal Interneurons by Gowan, Katherine, Helms, Amy W, Hunsaker, Thomas L, Collisson, Tandi, Ebert, Philip J, Odom, Raanan, Johnson, Jane E

“…Distinct classes of neurons are generated from progenitor cells distributed in characteristic dorsoventral patterns in the developing spinal neural tube. We…”
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Combined deletion of Xrcc4 and Trp53 in mouse germinal center B cells leads to novel B cell lymphomas with clonal heterogeneity by Chen, Zhangguo, Elos, Mihret T, Viboolsittiseri, Sawanee S, Gowan, Katherine, Leach, Sonia M, Rice, Michael, Eder, Maxwell D, Jones, Kenneth, Wang, Jing H

“…Activated B lymphocytes harbor programmed DNA double-strand breaks (DSBs) initiated by activation-induced deaminase (AID) and repaired by non-homologous…”
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Stimulation of NeuroD Activity by Huntingtin and Huntingtin-Associated Proteins HAP1 and MLK2 by Marcora, Edoardo, Gowan, Katherine, Lee, Jacqueline E.

“…NeuroD (ND) is a basic helix-loop-helix transcription factor important for neuronal development and survival. By using a yeast two-hybrid screen, we identified…”
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Overexpression of MATH1 Disrupts the Coordination of Neural Differentiation in Cerebellum Development by Helms, Amy W., Gowan, Katherine, Abney, Andrew, Savage, Trisha, Johnson, Jane E.

“…An essential role for the bHLH transcription factor MATH1 in the formation of cerebellar granule cells was previously demonstrated in a Math1 null mouse. The…”
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Multi-SNP Analysis of MHC Region by Aly, Theresa A., Eller, Elise, Ide, Akane, Gowan, Katherine, Babu, Sunanda R., Erlich, Henry A., Rewers, Marian J., Eisenbarth, George S., Fain, Pamela R.

“…Multi-SNP Analysis of MHC Region Remarkable Conservation of HLA-A1-B8-DR3 Haplotype Theresa A. Aly 1 , Elise Eller 1 , Akane Ide 1 , Katherine Gowan 2 ,…”
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Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia by Noetzli, Leila, Lo, Richard W, Lee-Sherick, Alisa B, Callaghan, Michael, Noris, Patrizia, Savoia, Anna, Rajpurkar, Madhvi, Jones, Kenneth, Gowan, Katherine, Balduini, Carlo L, Pecci, Alessandro, Gnan, Chiara, De Rocco, Daniela, Doubek, Michael, Li, Ling, Lu, Lily, Leung, Richard, Landolt-Marticorena, Carolina, Hunger, Stephen, Heller, Paula, Gutierrez-Hartmann, Arthur, Xiayuan, Liang, Pluthero, Fred G, Rowley, Jesse W, Weyrich, Andrew S, Kahr, Walter H A, Porter, Christopher C, Di Paola, Jorge

“…Jorge Di Paola, Christopher Porter, Walter Kahr and colleagues report germline mutations in the transcriptional repressor gene ETV6 in three families with…”
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NALP1 in Vitiligo-Associated Multiple Autoimmune Disease by Jin, Ying, Mailloux, Christina M, Gowan, Katherine, Riccardi, Sheri L, LaBerge, Greggory, Bennett, Dorothy C, Fain, Pamela R, Spritz, Richard A

“…A region on chromosome 17 has been associated with a range of epidemiologically associated autoimmune and autoinflammatory diseases, including vitiligo. Using…”
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Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo by Jin, Ying, Birlea, Stanca A, Fain, Pamela R, Ferrara, Tracey M, Ben, Songtao, Riccardi, Sheri L, Cole, Joanne B, Gowan, Katherine, Holland, Paulene J, Bennett, Dorothy C, Luiten, Rosalie M, Wolkerstorfer, Albert, van der Veen, J P Wietze, Hartmann, Anke, Eichner, Saskia, Schuler, Gerold, van Geel, Nanja, Lambert, Jo, Kemp, E Helen, Gawkrodger, David J, Weetman, Anthony P, Taïeb, Alain, Jouary, Thomas, Ezzedine, Khaled, Wallace, Margaret R, McCormack, Wayne T, Picardo, Mauro, Leone, Giovanni, Overbeck, Andreas, Silverberg, Nanette B, Spritz, Richard A

“…Richard Spritz and colleagues report genome-wide association analyses identifying 13 new susceptibility loci for generalized vitiligo. Their functional pathway…”
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Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly by Friederich, Marisa W, Erdogan, Alican J, Coughlin, 2nd, Curtis R, Elos, Mihret T, Jiang, Hua, O'Rourke, Courtney P, Lovell, Mark A, Wartchow, Eric, Gowan, Katherine, Chatfield, Kathryn C, Chick, Wallace S, Spector, Elaine B, Van Hove, Johan L K, Riemer, Jan

“…An infant presented with fatal infantile lactic acidosis and cardiomyopathy, and was found to have profoundly decreased activity of respiratory chain complex I…”
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Interferon-Gamma Induced Changes in Gene Expression Dramatically Alter Neutrophil Phenotype by Ellison, Michael, Briones, Natalie, Baroffio, Angelina, Murphy, John, Gowan, Katherine, Sanford, Bridget, Jones, Kenneth L., Ambruso, Daniel R.

“…Interferon-gamma (IFN-γ) is a cytokine with powerful immunoregulatory effects. Most of these have been documented within the adaptive immune system and less…”
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Variant of TYR and Autoimmunity Susceptibility Loci in Generalized Vitiligo by Jin, Ying, Birlea, Stanca A, Fain, Pamela R, Gowan, Katherine, Riccardi, Sheri L, Holland, Paulene J, Mailloux, Christina M, Sufit, Alexandra J.D, Hutton, Saunie M, Amadi-Myers, Anita, Bennett, Dorothy C, Wallace, Margaret R, McCormack, Wayne T, Kemp, E. Helen, Gawkrodger, David J, Weetman, Anthony P, Picardo, Mauro, Leone, Giovanni, Taïeb, Alain, Jouary, Thomas, Ezzedine, Khaled, van Geel, Nanny, Lambert, Jo, Overbeck, Andreas, Spritz, Richard A

“…The results of a genomewide association study of generalized vitiligo implicate genes involved in the immune response and also a variant of TYR, which encodes…”
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Filamin C Truncation Mutations Are Associated With Arrhythmogenic Dilated Cardiomyopathy and Changes in the Cell–Cell Adhesion Structures by Begay, Rene L., Graw, Sharon L., Sinagra, Gianfranco, Asimaki, Angeliki, Rowland, Teisha J., Slavov, Dobromir B., Gowan, Katherine, Jones, Kenneth L., Brun, Francesca, Merlo, Marco, Miani, Daniela, Sweet, Mary, Devaraj, Kalpana, Wartchow, Eric P., Gigli, Marta, Puggia, Ilaria, Salcedo, Ernesto E., Garrity, Deborah M., Ambardekar, Amrut V., Buttrick, Peter, Reece, T. Brett, Bristow, Michael R., Saffitz, Jeffrey E., Mestroni, Luisa, Taylor, Matthew R.G.

“…The purpose of this study was to assess the phenotype of Filamin C (FLNC) truncating variants in dilated cardiomyopathy (DCM) and understand the mechanism…”
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