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301 results on '"Shianna, Kevin V."'

1. Common genetic variation and the control of HIV-1 in humans.

Author

Fellay, Jacques, Ge, Dongliang, Shianna, Kevin V, Colombo, Sara, Ledergerber, Bruno, Cirulli, Elizabeth T, Urban, Thomas J, Zhang, Kunlin, Gumbs, Curtis E, Smith, Jason P, Castagna, Antonella, Cozzi-Lepri, Alessandro, De Luca, Andrea, Easterbrook, Philippa, Günthard, Huldrych F, Mallal, Simon, Mussini, Cristina, Dalmau, Judith, Martinez-Picado, Javier, Miro, José M, Obel, Niels, Wolinsky, Steven M, Martinson, Jeremy J, Detels, Roger, Margolick, Joseph B, Jacobson, Lisa P, Descombes, Patrick, Antonarakis, Stylianos E, Beckmann, Jacques S, O'Brien, Stephen J, Letvin, Norman L, McMichael, Andrew J, Haynes, Barton F, Carrington, Mary, Feng, Sheng, Telenti, Amalio, Goldstein, David B, and NIAID Center for HIV/AIDS Vaccine Immunology (CHAVI)

Subjects
NIAID Center for HIV/AIDS Vaccine Immunology, Humans, HIV-1, HIV Infections, Disease Progression, Viral Load, Major Histocompatibility Complex, Genotype, Phenotype, Polymorphism, Single Nucleotide, Alleles, Adult, Female, Male, Genetic Variation, Kaplan-Meier Estimate, Polymorphism, Single Nucleotide, Genetics, Developmental Biology
Abstract

To extend the understanding of host genetic determinants of HIV-1 control, we performed a genome-wide association study in a cohort of 2,554 infected Caucasian subjects. The study was powered to detect common genetic variants explaining down to 1.3% of the variability in viral load at set point. We provide overwhelming confirmation of three associations previously reported in a genome-wide study and show further independent effects of both common and rare variants in the Major Histocompatibility Complex region (MHC). We also examined the polymorphisms reported in previous candidate gene studies and fail to support a role for any variant outside of the MHC or the chemokine receptor cluster on chromosome 3. In addition, we evaluated functional variants, copy-number polymorphisms, epistatic interactions, and biological pathways. This study thus represents a comprehensive assessment of common human genetic variation in HIV-1 control in Caucasians.

Published
2009

4. Natural selection on EPAS1 (HIF2α) associated with low hemoglobin concentration in Tibetan highlanders

Author

Beall, Cynthia M., Cavalleri, Gianpiero L., Deng, Libin, Elston, Robert C., Gao, Yang, Knight, Jo, Li, Chaohua, Li, Jiang Chuan, Liang, Yu, McCormack, Mark, Montgomery, Hugh E., Pan, Hao, Robbins, Peter A., Shianna, Kevin V., Tam, Siu Cheung, Tsering, Ngodrop, Veeramah, Krishna R., Wang, Wei, Wangdui, Puchung, Weale, Michael E., Xu, Yaomin, Xu, Zhe, Yang, Ling, Zaman, M. Justin, Zeng, Changqing, Zhang, Li, Zhang, Xianglong, Zhaxi, Pingcuo, Zheng, Yong Tang, and Ellison, Peter T.

Published
2010

5. Host Determinants of HIV-1 Control in African Americans

Author

Infectious Disease Clinical Research Program HIV Working Group, on behalf of the National Institute of Allergy and Infectious Diseases Center for HIV/AIDS Vaccine Immunology (CHAVI), Pelak, Kimberly, Goldstein, David B., Walley, Nicole M., Fellay, Jacques, Ge, Dongliang, Shianna, Kevin V., Gumbs, Curtis, Gao, Xiaojiang, Maia, Jessica M., Cronin, Kenneth D., Hussain, Shehnaz K., Carrington, Mary, Michael, Nelson L., and Weintrob, Amy C.

Published
2010

6. A Whole-Genome Association Study of Major Determinants for Host Control of HIV-1

Author

Fellay, Jacques, Shianna, Kevin V., Ge, Dongliang, Colombo, Sara, Ledergerber, Bruno, Weale, Mike, Zhang, Kunlin, Gumbs, Curtis, Castagna, Antonella, Cossarizza, Andrea, Cozzi-Lepri, Alessandro, De Luca, Andrea, Easterbrook, Philippa, Francioli, Patrick, Mallal, Simon, Martinez-Picado, Javier, Miro, José M., Obel, Niels, Smith, Jason P., Wyniger, Josiane, Descombes, Patrick, Antonarakis, Stylianos E., Letvin, Norman L., McMichael, Andrew J., Haynes, Barton F., Telenti, Amalio, and Goldstein, David B.

Published
2007
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7. Evidence of dysregulation of dendritic cells in primary HIV infection

Author

Sabado, Rachel Lubong, O'Brien, Meagan, Subedi, Abhignya, Qin, Li, Hu, Nan, Taylor, Elizabeth, Dibben, Oliver, Stacey, Andrea, Fellay, Jacques, Shianna, Kevin V., Siegal, Frederick, Shodell, Michael, Shah, Kokila, Larsson, Marie, Lifson, Jeffrey, Nadas, Arthur, Marmor, Michael, Hutt, Richard, Margolis, David, Garmon, Donald, Markowitz, Martin, Valentine, Fred, Borrow, Persephone, and Bhardwaj, Nina

Published
2010
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8. A Polymorphism Near IL28B Is Associated With Spontaneous Clearance of Acute Hepatitis C Virus and Jaundice

Author

Tillmann, Hans L., Thompson, Alex J., Patel, Keyur, Wiese, Manfred, Tenckhoff, Hannelore, Nischalke, Hans D., Lokhnygina, Yuliya, Kullig, Ulrike, Göbel, Uwe, Capka, Emanuela, Wiegand, Johannes, Schiefke, Ingolf, Güthoff, Wolfgang, Grüngreiff, Kurt, König, Ingrid, Spengler, Ulrich, McCarthy, Jeanette, Shianna, Kevin V., Goldstein, David B., McHutchison, John G., Timm, Jörg, and Nattermann, Jacob

Published
2010
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11. Interleukin-28B Polymorphism Improves Viral Kinetics and Is the Strongest Pretreatment Predictor of Sustained Virologic Response in Genotype 1 Hepatitis C Virus

Author

Thompson, Alexander J., Muir, Andrew J., Sulkowski, Mark S., Ge, Dongliang, Fellay, Jacques, Shianna, Kevin V., Urban, Thomas, Afdhal, Nezam H., Jacobson, Ira M., Esteban, Rafael, Poordad, Fred, Lawitz, Eric J., McCone, Jonathan, Shiffman, Mitchell L., Galler, Greg W., Lee, William M., Reindollar, Robert, King, John W., Kwo, Paul Y., Ghalib, Reem H., Freilich, Bradley, Nyberg, Lisa M., Zeuzem, Stefan, Poynard, Thierry, Vock, David M., Pieper, Karen S., Patel, Keyur, Tillmann, Hans L., Noviello, Stephanie, Koury, Kenneth, Pedicone, Lisa D., Brass, Clifford A., Albrecht, Janice K., Goldstein, David B., and McHutchison, John G.

Published
2010
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12. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

Author

Heinzen, Erin L, Swoboda, Kathryn J, Hitomi, Yuki, Gurrieri, Fiorella, Nicole, Sophie, de Vries, Boukje, Tiziano, F Danilo, Fontaine, Bertrand, Walley, Nicole M, Heavin, Sinéad, Panagiotakaki, Eleni, Fiori, Stefania, Abiusi, Emanuela, Di Pietro, Lorena, Sweney, Matthew T, Newcomb, Tara M, Viollet, Louis, Huff, Chad, Jorde, Lynn B, Reyna, Sandra P, Murphy, Kelley J, Shianna, Kevin V, Gumbs, Curtis E, Little, Latasha, Silver, Kenneth, Ptáček, Louis J, Haan, Joost, Ferrari, Michel D, Bye, Ann M, Herkes, Geoffrey K, Whitelaw, Charlotte M, Webb, David, Lynch, Bryan J, Uldall, Peter, King, Mary D, Scheffer, Ingrid E, Neri, Giovanni, Arzimanoglou, Alexis, van den Maagdenberg, Arn M J M, Sisodiya, Sanjay M, Mikati, Mohamad A, and Goldstein, David B

Published
2012
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13. Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes

Author

Heinzen, Erin L., Radtke, Rodney A., Urban, Thomas J., Cavalleri, Gianpiero L., Depondt, Chantal, Need, Anna C., Walley, Nicole M., Nicoletti, Paola, Dongliang Ge, Catarino, Claudia B., Duncan, John S., Kasperaviciute, Dalia, Tate, Sarah K., Caboclo, Luis O.mSander, Josemir W., Clayton, Lisa, Linney, Kristen N., Shianna, Kevin V., Gumbs, Curtis E., Smith, Jason, Cronin, Kenneth D., Maia, Jessica M., Doherty, Colin P., Pandolfo, Massimo, Leppert, David, Middleton, Lefkos T., Gibson, Rachel A., Johnson, Michael R., Matthews, Paul M., Hosford, David, Kalviainen, Reetta, Eriksson, Kai, Kantanen, Anne-Mari, Dorn, Thomas; Hansen, Jorg, Kramer, Gunter, Steinhoff, Bernhard J., Wieser, Heinz-Gregor, Zumsteg, Dominik, Ortega, Marcos, Wood, Nicholas W., Huxley-Jones, Juli, Mikati, Mohamad, Gallentine, William B., Husain, Aatif M., Buckley, Patrick G., Stallings, Ray L., Podgoreanu, Mihai V., Delanty, Norman, Sisodiya, Sanjay M., and Goldstein, David B.

Subjects
Chromosome deletion -- Research, Epilepsy -- Genetic aspects, Epilepsy -- Care and treatment, Gene expression -- Analysis, Biological sciences
Abstract

Genome-wide screens were used to identify copy number variation in 3812 patients with a diverse spectrum of epilepsy syndromes and in 1299 neurologically-normal controls to evaluate the role of 16p13.11 deletions and other structural variation in epilepsy disorders. The data implicated 16p13.11 and possibly other large deletions as risk factors for a wide range of epilepsy disorders and appear to point toward haploinsufficiency as a contributor to the pathogenicity of deletions.

Published
2010

14. ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C

Author

Fellay, Jacques, Thompson, Alexander J., Ge, Dongliang, Gumbs, Curtis E., Urban, Thomas J., Shianna, Kevin V., Little, Latasha D., Qiu, Ping, Bertelsen, Arthur H., Watson, Mark, Warner, Amelia, Muir, Andrew J., Brass, Clifford, Albrecht, Janice, Sulkowski, Mark, McHutchison, John G., and Goldstein, David B.

Subjects
Anemia -- Risk factors -- Genetic aspects -- Prevention, Genetic variation -- Health aspects, Hepatitis C -- Risk factors -- Development and progression -- Genetic aspects, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Chronic infection with the hepatitis C virus (HCV) affects 170 million people worldwide and is an important cause of liver-related morbidity and mortality (1). The standard of care therapy combines pegylated interferon (pegIFN) alpha and ribavirin (RBV), and is associated with a range of treatment-limiting adverse effects (2). One of the most important of these is RBV-induced haemolytic anaemia, which affects most patients and is severe enough to require dose modification in up to 15% of patients. Here we show that genetic variants leading to inosine triphosphatase deficiency, a condition not thought to be clinically important, protect against haemolytic anaemia in hepatitis-C-infected patients receiving RBV., Using DNA from consenting participants of the IDEAL study (2),we performed a genome-wide association study (GWAS) of determinants of treatment-related anaemia in individuals with chronic genotype 1 hepatitis C. A [...]

Published
2010
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15. Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study

Author

Cavalleri, Gianpiero L, Weale, Michael E, Shianna, Kevin V, Singh, Rinki, Lynch, John M, Grinton, Bronwyn, Szoeke, Cassandra, Murphy, Kevin, Kinirons, Peter, O'Rourke, Deirdre, Ge, Dongliang, Depondt, Chantal, Claeys, Kristl G, Pandolfo, Massimo, Gumbs, Curtis, Walley, Nicole, McNamara, James, Mulley, John C, Linney, Kristen N, Sheffield, Leslie J, Radtke, Rodney A, Tate, Sarah K, Chissoe, Stephanie L, Gibson, Rachel A, Hosford, David, Stanton, Alice, Graves, Tracey D, Hanna, Michael G, Eriksson, Kai, Kantanen, Anne-Mari, Kalviainen, Reetta, O'Brien, Terence J, Sander, Josemir W, Duncan, John S, Scheffer, Ingrid E, Berkovic, Samuel F, Wood, Nicholas W, Doherty, Colin P, Delanty, Norman, Sisodiya, Sanjay M, and Goldstein, David B

Published
2007
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16. A genome-wide association study of resistance to HIV infection in highly exposed uninfected individuals with hemophilia A

Author

Lane, Jérôme, McLaren, Paul J., Dorrell, Lucy, Shianna, Kevin V., Stemke, Amanda, Pelak, Kimberly, Moore, Stephen, Oldenburg, Johannes, Alvarez-Roman, Maria Teresa, Angelillo-Scherrer, Anne, Boehlen, Francoise, Bolton-Maggs, Paula H.B., Brand, Brigit, Brown, Deborah, Chiang, Elaine, Cid-Haro, Ana Rosa, Clotet, Bonaventura, Collins, Peter, Colombo, Sara, Dalmau, Judith, Fogarty, Patrick, Giangrande, Paul, Gringeri, Alessandro, Iyer, Rathi, Katsarou, Olga, Kempton, Christine, Kuriakose, Philip, Lin, Judith, Makris, Mike, Manco-Johnson, Marilyn, Tsakiris, Dimitrios A., Martinez-Picado, Javier, Mauser-Bunschoten, Evelien, Neff, Anne, Oka, Shinichi, Oyesiku, Lara, Parra, Rafael, Peter-Salonen, Kristiina, Powell, Jerry, Recht, Michael, Shapiro, Amy, Stine, Kimo, Talks, Katherine, Telenti, Amalio, Wilde, Jonathan, Yee, Thynn Thynn, Wolinsky, Steven M., Martinson, Jeremy, Hussain, Shehnaz K., Bream, Jay H., Jacobson, Lisa P., Carrington, Mary, Goedert, James J., Haynes, Barton F., McMichael, Andrew J., Goldstein, David B., and Fellay, Jacques

Published
2013
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22. Cold Urticaria, Immunodeficiency, and Autoimmunity Related to PLCG2 Deletions

Author

Ombrello, Michael J., Remmers, Elaine F., Sun, Guangping, Freeman, Alexandra F., Datta, Shrimati, Torabi-Parizi, Parizad, Subramanian, Naeha, Bunney, Tom D., Baxendale, Rhona W., Martins, Marta S., Romberg, Neil, Komarow, Hirsh, Aksentijevich, Ivona, Kim, Hun Sik, Ho, Jason, Cruse, Glenn, Jung, Mi-Yeon, Gilfillan, Alasdair M., Metcalfe, Dean D., Nelson, Celeste, OʼBrien, Michelle, Wisch, Laura, Stone, Kelly, Douek, Daniel C., Gandhi, Chhavi, Wanderer, Alan A., Lee, Hane, Nelson, Stanley F., Shianna, Kevin V., Cirulli, Elizabeth T., Goldstein, David B., Long, Eric O., Moir, Susan, Meffre, Eric, Holland, Steven M., Kastner, Daniel L., Katan, Matilda, Hoffman, Hal M., and Milner, Joshua D.

Published
2012
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23. Identification of a UPC2 homolog in Saccharomyces cerevisiae and its involvement in aerobic sterol uptake

Author

Shianna, Kevin V., Dotson, W. David, Tove, Shirley, and Parks, Leo W.

Subjects
Saccharomyces -- Genetic aspects, Genetic regulation -- Analysis, Sterols -- Physiological aspects, Gene mutations -- Analysis, Biological sciences
Abstract

Results show that Saccharomyces cerevisiae mutant upc2-1 of the transcriptional activator UPC2 is able to take up sterols, unlike the wild-type cells, under aerobic conditions. Data further reveal that a gene product derived from the transcriptional activator YLR228c is similar to Upc2p with a high amino acid seuence homology and sterol uptake.

Published
2001

25. HLA-A3101 and Carbamazepine-Induced Hypersensitivity Reactions in Europeans

Author

McCormack, Mark, Alfirevic, Ana, Bourgeois, Stephane, Farrell, John J., Kasperavičiūtė, Dalia, Carrington, Mary, Sills, Graeme J., Marson, Tony, Jia, Xiaoming, de Bakker, Paul I.W., Chinthapalli, Krishna, Molokhia, Mariam, Johnson, Michael R., OʼConnor, Gerard D., Chaila, Elijah, Alhusaini, Saud, Shianna, Kevin V., Radtke, Rodney A., Heinzen, Erin L., Walley, Nicole, Pandolfo, Massimo, Pichler, Werner, Park, Kevin B., Depondt, Chantal, Sisodiya, Sanjay M., Goldstein, David B., Deloukas, Panos, Delanty, Norman, Cavalleri, Gianpiero L., and Pirmohamed, Munir

Published
2011

27. Inosine Triphosphatase Genetic Variants Are Protective Against Anemia During Antiviral Therapy for Hcv2/3 But Do Not Decrease Dose Reductions of Rbv Or Increase Svr

Author

Thompson, Alexander J., Santoro, Rosanna, Piazzolla, Valeria, Clark, Paul J., Naggie, Susanna, Tillmann, Hans L., Patel, Keyur, Muir, Andrew J., Shianna, Kevin V., Mottola, Leonardo, Petruzzellis, Daniela, Romano, Mario, Sogari, Fernando, Facciorusso, Domenico, Goldstein, David B., McHutchison, John G., and Mangia, Alessandra

Published
2011

29. Quantitation of pretreatment serum interferon-γ–inducible protein-10 improves the predictive value of an IL28B gene polymorphism for hepatitis C treatment response

Author

Darling, Jama M., Aerssens, Jeroen, Fanning, Gregory, McHutchison, John G., Goldstein, David B., Thompson, Alexander J., Shianna, Kevin V., Afdhal, Nezam H., Hudson, Michael L., Howell, Charles D., Talloen, Willem, Bollekens, Jacques, De Wit, Mieke, Scholliers, Annick, and Fried, Michael W.

Published
2011
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30. Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study

Author

Kasperavičiūtė, Dalia, Catarino, Claudia B., Heinzen, Erin L., Depondt, Chantal, Cavalleri, Gianpiero L., Caboclo, Luis O., Tate, Sarah K., Jamnadas-Khoda, Jenny, Chinthapalli, Krishna, Clayton, Lisa M.S., Shianna, Kevin V., Radtke, Rodney A., Mikati, Mohamad A., Gallentine, William B., Husain, Aatif M., Alhusaini, Saud, Leppert, David, Middleton, Lefkos T., Gibson, Rachel A., Johnson, Michael R., Matthews, Paul M., Hosford, David, Heuser, Kjell, Amos, Leslie, Ortega, Marcos, Zumsteg, Dominik, Wieser, Heinz-Gregor, Steinhoff, Bernhard J., Krämer, Günter, Hansen, Jörg, Dorn, Thomas, Kantanen, Anne-Mari, Gjerstad, Leif, Peuralinna, Terhi, Hernandez, Dena G., Eriksson, Kai J., Kälviäinen, Reetta K., Doherty, Colin P., Wood, Nicholas W., Pandolfo, Massimo, Duncan, John S., Sander, Josemir W., Delanty, Norman, Goldstein, David B., and Sisodiya, Sanjay M.

Published
2010
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35. Common variants conferring risk of schizophrenia

Author

Stefansson, Hreinn, Ophoff, Roel A., Steinberg, Stacy, Andreassen, Ole A., Cichon, Sven, Rujescu, Dan, Werge, Thomas, Pietiläinen, Olli P. H., Mors, Ole, Mortensen, Preben B., Sigurdsson, Engilbert, Gustafsson, Omar, Nyegaard, Mette, Tuulio-Henriksson, Annamari, Ingason, Andres, Hansen, Thomas, Suvisaari, Jaana, Lonnqvist, Jouko, Paunio, Tiina, Børglum, Anders D., Hartmann, Annette, Fink-Jensen, Anders, Nordentoft, Merete, Hougaard, David, Norgaard-Pedersen, Bent, Böttcher, Yvonne, Olesen, Jes, Breuer, René, Möller, Hans-Jürgen, Giegling, Ina, Rasmussen, Henrik B., Timm, Sally, Mattheisen, Manuel, Bitter, István, Réthelyi, János M., Magnusdottir, Brynja B., Sigmundsson, Thordur, Olason, Pall, Masson, Gisli, Gulcher, Jeffrey R., Haraldsson, Magnus, Fossdal, Ragnheidur, Thorgeirsson, Thorgeir E., Thorsteinsdottir, Unnur, Ruggeri, Mirella, Tosato, Sarah, Franke, Barbara, Strengman, Eric, Kiemeney, Lambertus A., Kahn, René S., Linszen, Don H., van Os, Jim, Wiersma, Durk, Bruggeman, Richard, Cahn, Wiepke, de Haan, Lieuwe, Krabbendam, Lydia, Myin-Germeys, Inez, Melle, Ingrid, Djurovic, Srdjan, Abramova, Lilia, Kaleda, Vasily, Sanjuan, Julio, de Frutos, Rosa, Bramon, Elvira, Vassos, Evangelos, Fraser, Gillian, Ettinger, Ulrich, Picchioni, Marco, Walker, Nicholas, Toulopoulou, Timi, Need, Anna C., Ge, Dongliang, Lim Yoon, Joeng, Shianna, Kevin V., Freimer, Nelson B., Cantor, Rita M., Murray, Robin, Kong, Augustine, Golimbet, Vera, Carracedo, Angel, Arango, Celso, Costas, Javier, Jönsson, Erik G., Terenius, Lars, Agartz, Ingrid, Petursson, Hannes, Nöthen, Markus M., Rietschel, Marcella, Matthews, Paul M., Muglia, Pierandrea, Peltonen, Leena, St Clair, David, Goldstein, David B., Stefansson, Kari, and Collier, David A.

Published
2009
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36. Host determinants of HIV-1 control in African Americans

Author

Pelak, Kimberly, Goldstein, David B., Walley, Nicole M., Fellay, Jacques, Ge, Dongliang, Shianna, Kevin V., Gumbs, Curtis, Gao, Xiaojiang, Maia, Jessica M., Cronin, Kenneth D., Hussain, Shehnaz K., Carrington, Mary, Michael, Nelson L., and Weintrob, Amy C.

Subjects
HIV infection -- Genetic aspects, HIV infection -- Risk factors, HIV infection -- Demographic aspects, HIV infection -- Research, Genetic variation -- Demographic aspects, Genetic variation -- Research, Health
Published
2010

37. Large recurrent microdeletions associated with schizophrenia

Author

Stefansson, Hreinn, Rujescu, Dan, Cichon, Sven, Pietiläinen, Olli P. H., Ingason, Andres, Steinberg, Stacy, Fossdal, Ragnheidur, Sigurdsson, Engilbert, Sigmundsson, Thordur, Buizer-Voskamp, Jacobine E., Hansen, Thomas, Jakobsen, Klaus D., Muglia, Pierandrea, Francks, Clyde, Matthews, Paul M., Gylfason, Arnaldur, Halldorsson, Bjarni V., Gudbjartsson, Daniel, Thorgeirsson, Thorgeir E., Sigurdsson, Asgeir, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Bjornsson, Asgeir, Mattiasdottir, Sigurborg, Blondal, Thorarinn, Haraldsson, Magnus, Magnusdottir, Brynja B., Giegling, Ina, Möller, Hans-Jürgen, Hartmann, Annette, Shianna, Kevin V., Ge, Dongliang, Need, Anna C., Crombie, Caroline, Fraser, Gillian, Walker, Nicholas, Lonnqvist, Jouko, Suvisaari, Jaana, Tuulio-Henriksson, Annamarie, Paunio, Tiina, Toulopoulou, Timi, Bramon, Elvira, Forti, Marta Di, Murray, Robin, Ruggeri, Mirella, Vassos, Evangelos, Tosato, Sarah, Walshe, Muriel, Li, Tao, Vasilescu, Catalina, Mühleisen, Thomas W., Wang, August G., Ullum, Henrik, Djurovic, Srdjan, Melle, Ingrid, Olesen, Jes, Kiemeney, Lambertus A., Franke, Barbara, Sabatti, Chiara, Freimer, Nelson B., Gulcher, Jeffrey R., Thorsteinsdottir, Unnur, Kong, Augustine, Andreassen, Ole A., Ophoff, Roel A., Georgi, Alexander, Rietschel, Marcella, Werge, Thomas, Petursson, Hannes, Goldstein, David B., Nöthen, Markus M., Peltonen, Leena, Collier, David A., St Clair, David, Stefansson, Kari, Kahn, René S., Linszen, Don H., van Os, Jim, Wiersma, Durk, Bruggeman, Richard, Cahn, Wiepke, de Haan, Lieuwe, Krabbendam, Lydia, and Myin-Germeys, Inez

Published
2008
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38. Large-scale pathways-based association study in amyotrophic lateral sclerosis

Author

Kasperavičiūtė, Dalia, Weale, Mike E., Shianna, Kevin V., Banks, Gareth T., Simpson, Claire L., Hansen, Valerie K., Turner, Martin R., Shaw, Christopher E., Al-Chalabi, Ammar, Pall, Hardev S., Goodall, Emily F., Morrison, Karen E., Orrell, Richard W., Beck, Marcus, Jablonka, Sibylle, Sendtner, Michael, Brockington, Alice, Ince, Paul G., Hartley, Judith, Nixon, Hannah, Shaw, Pamela J., Schiavo, Giampietro, Wood, Nicholas W., Goldstein, David B., and Fisher, Elizabeth M. C.

Published
2007

39. A mutation in a purported regulatory gene affects control of sterol uptake in Saccharomyces cerevisiae

Author

Crowley, Jim, Leak, Frank W., Jr., Shianna, Kevin V., Tove, Shirley, and Parks, Leo W.

Subjects
Saccharomyces -- Genetic aspects, Bacterial genetics -- Research, Sterols -- Genetic aspects, Gene mutations -- Research, Calcium -- Usage, Biological sciences
Abstract

The wild-type copy of the UPC2 gene, a mutant that can take up sterols aerobically in heme-competent cells of Saccharomyces cerevisiae, was cloned using a differential calcium phenotype. Experiments showed that upc2-1 was hypersensitive to calcium and its allele was semidominant. UPC2 cloning also indicated that it is YDR213W, an open reading frame on chromosome IV. This belonged to a fungal regulatory family containing the Zn(II)2Cys6 binuclear cluster DNA binding domain.

Published
1998

40. Randomly amplified polymorphic DNA PCR analysis of bovine Cryptosporidium parvum strains isolated from the watershed of the Red River of the North

Author

Shianna, Kevin V., Rytter, Russell, and Spanier, Jonathan G.

Subjects
Coccidia -- Identification and classification, Polymerase chain reaction -- Usage, Protozoa, Pathogenic -- Identification and classification, Biological sciences
Abstract

Cryptosoporidium parvum causes cryptosporidiosis and although this protozoal disease is hypothesized to be zoonotic, it has never been proven. Sixteen bovine C. parvum isolates from the Red River of the North and two bovine and two human isolates from Australia were analyzed using randomly amplified polymorphic DNA polymerase chain reaction to determine relationships among these strains analysis of Cryptosporidium. Results reveal that these isolates belong to four different strains.

Published
1998

42. Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study

Author

Kasperavičiūtė, Dalia, Catarino, Claudia B., Heinzen, Erin L., Depondt, Chantal, Cavalleri, Gianpiero L., Caboclo, Luis O., Tate, Sarah K., Jamnadas-Khoda, Jenny, Chinthapalli, Krishna, Clayton, Lisa M.S., Shianna, Kevin V., Radtke, Rodney A., Mikati, Mohamad A., Gallentine, William B., Husain, Aatif M., Alhusaini, Saud, Leppert, David, Middleton, Lefkos T., Gibson, Rachel A., Johnson, Michael R., Matthews, Paul M., Hosford, David, Heuser, Kjell, Amos, Leslie, Ortega, Marcos, Zumsteg, Dominik, Wieser, Heinz-Gregor, Steinhoff, Bernhard J., Krämer, Günter, Hansen, Jörg, Dorn, Thomas, Kantanen, Anne-Mari, Gjerstad, Leif, Peuralinna, Terhi, Hernandez, Dena G., Eriksson, Kai J., Kälviäinen, Reetta K., Doherty, Colin P., Wood, Nicholas W., Pandolfo, Massimo, Duncan, John S., Sander, Josemir W., Delanty, Norman, Goldstein, David B., Sisodiya, Sanjay M., Kasperavičiūtė, Dalia, Catarino, Claudia B., Heinzen, Erin L., Depondt, Chantal, Cavalleri, Gianpiero L., Caboclo, Luis O., Tate, Sarah K., Jamnadas-Khoda, Jenny, Chinthapalli, Krishna, Clayton, Lisa M.S., Shianna, Kevin V., Radtke, Rodney A., Mikati, Mohamad A., Gallentine, William B., Husain, Aatif M., Alhusaini, Saud, Leppert, David, Middleton, Lefkos T., Gibson, Rachel A., Johnson, Michael R., Matthews, Paul M., Hosford, David, Heuser, Kjell, Amos, Leslie, Ortega, Marcos, Zumsteg, Dominik, Wieser, Heinz-Gregor, Steinhoff, Bernhard J., Krämer, Günter, Hansen, Jörg, Dorn, Thomas, Kantanen, Anne-Mari, Gjerstad, Leif, Peuralinna, Terhi, Hernandez, Dena G., Eriksson, Kai J., Kälviäinen, Reetta K., Doherty, Colin P., Wood, Nicholas W., Pandolfo, Massimo, Duncan, John S., Sander, Josemir W., Delanty, Norman, Goldstein, David B., and Sisodiya, Sanjay M.

Abstract

Partial epilepsies have a substantial heritability. However, the actual genetic causes are largely unknown. In contrast to many other common diseases for which genetic association-studies have successfully revealed common variants associated with disease risk, the role of common variation in partial epilepsies has not yet been explored in a well-powered study. We undertook a genome-wide association-study to identify common variants which influence risk for epilepsy shared amongst partial epilepsy syndromes, in 3445 patients and 6935 controls of European ancestry. We did not identify any genome-wide significant association. A few single nucleotide polymorphisms may warrant further investigation. We exclude common genetic variants with effect sizes above a modest 1.3 odds ratio for a single variant as contributors to genetic susceptibility shared across the partial epilepsies. We show that, at best, common genetic variation can only have a modest role in predisposition to the partial epilepsies when considered across syndromes in Europeans. The genetic architecture of the partial epilepsies is likely to be very complex, reflecting genotypic and phenotypic heterogeneity. Larger meta-analyses are required to identify variants of smaller effect sizes (odds ratio <1.3) or syndrome-specific variants. Further, our results suggest research efforts should also be directed towards identifying the multiple rare variants likely to account for at least part of the heritability of the partial epilepsies. Data emerging from genome-wide association-studies will be valuable during the next serious challenge of interpreting all the genetic variation emerging from whole-genome sequencing studies

Published
2017

43. Quantitation of Pretreatment Serum IP-10 Improves the Predictive Value of an IL28B Gene Polymorphism for Hepatitis C Treatment Response

Author

Aerssens, Jeroen, Darling, Jama M., Fanning, Gregory, De Wit, Mieke, Shianna, Kevin V., Afdhal, Nezam H., Scholliers, Annick, Bollekens, Jacques, Fried, Michael W., Goldstein, David B., Thompson, Alexander J., Howell, Charles D., McHutchison, John G., Hudson, Michael L., and Talloen, Willem

Subjects
virus diseases
Abstract

Polymorphisms of IL28B gene are highly associated with sustained virological response (SVR) in patients with chronic hepatitis C treated with peginterferon and ribavirin. Quantitation of Interferon-γ Inducible Protein-10 (IP-10) may also differentiate antiviral response. We evaluated IP-10 levels in pretreatment serum from 115 non-responders and 157 sustained responders in the VIRAHEP-C cohort, including African Americans (AA) and Caucasian Americans (CA). Mean IP-10 was lower in sustained responders compared to non-responders (460 ± 37 pg/ml vs 697 ± 49 pg/ml, p600 pg/ml) was 67%. We assessed the combination of pretreatment IP-10 levels with IL28B genotype as predictors of treatment response. The IL28B polymorphism rs12979860 was tested in 210 participants. CC, CT, or TT genotypes were found in 30%, 49%, and 21%, respectively, with corresponding SVR rates of 87%, 50%, and 39% (p

Published
2011
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44. IL28B genotype is associated with differential expression of intrahepatic interferon-stimulated genes in chronic hepatitis C patients

Author

Urban, Thomas J., Thompson, Alexander J., Bradrick, Shelton, Fellay, Jacques, Schuppan, Detlef, Cronin, Kenneth D., Hong, Linda, McKenzie, Alexander, Patel, Keyur, Shianna, Kevin V., McHutchison, John G., Goldstein, David B., and Afdhal, Nezam

Subjects
Adult, Male, MicroRNAs, Interleukins, virus diseases, Humans, Female, Interferons, Hepatitis C, Chronic, Middle Aged, Viral Load, Article, Signal Transduction
Abstract

Genetic variation in the IL28B (interleukin 28B; interferon lambda 3) region has been associated with sustained virological response (SVR) rates in patients with chronic hepatitis C (CHC) who were treated with peginterferon-α and ribavirin. We hypothesized that IL28B polymorphism is associated with intrahepatic expression of interferon-stimulated genes (ISGs), known to influence treatment outcome. IL28B genotyping (rs12979860) and whole-genome RNA expression were performed using liver biopsies from 61 North American patients with CHC. After correction for multiple testing (false discovery rate0.10), 164 transcripts were found to be differentially expressed by IL28B-type. The interferon signaling pathway was the most enriched canonical pathway differentially expressed by IL28B-type (P10(-5)), with most genes showing higher expression in livers of individuals carrying the poor-response IL28B-type. In 25 patients for which treatment response data were available, IL28B-type was associated with SVR (P = 0.0054). ISG expression was also associated with SVR; however, this was not independent of IL28B-type. Analysis of miR-122 expression in liver biopsies showed reduced miR-122 levels associated with poorer treatment outcome, independently of IL28B-type. No association was observed between IL28B-type and levels of liver IL28B or IL28A messenger RNA expression. IL28B protein sequence variants associated with rs12979860 were therefore investigated in vitro: no differences in ISG induction or inhibition of HCV replication were observed in Huh7.5 cells.The good response IL28B variant was strongly associated with lower level ISG expression. The results suggest that IL28B genotype may explain the relationship between hepatic ISG expression and HCV treatment outcome, and this is independent of miR-122 expression. IL28B-type was not associated with intrahepatic IL28B messenger RNA expression in vivo. Further investigation of the precise molecular mechanism(s) by which IL28B genetic variation influences HCV outcomes is warranted.

Published
2010

45. Two Further Blood Pressure Loci Identified in Ion Channel Genes With a Genecentric Approach

Author

McCarthy, Nina S., primary, Vangjeli, Ciara, additional, Cavalleri, Gianpiero L., additional, Delanty, Norman, additional, Shianna, Kevin V., additional, Surendran, Praveen, additional, O’Brien, Eoin, additional, Munroe, Patricia B., additional, Masca, Nicholas, additional, Tomaszewski, Maciej, additional, Samani, Nilesh J., additional, and Stanton, Alice V., additional

Published
2014
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46. Tibetans living at sea level have a hyporesponsive hypoxia-inducible factor system and blunted physiological responses to hypoxia

Author

Petousi, Nayia, primary, Croft, Quentin P. P., additional, Cavalleri, Gianpiero L., additional, Cheng, Hung-Yuan, additional, Formenti, Federico, additional, Ishida, Koji, additional, Lunn, Daniel, additional, McCormack, Mark, additional, Shianna, Kevin V., additional, Talbot, Nick P., additional, Ratcliffe, Peter J., additional, and Robbins, Peter A., additional

Published
2014
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47. Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy.

Author

Heinzen, Erin, Depondt, Chantal, Cavalleri, Gianpiero L, Ruzzo, Elizabeth K, Walley, Nicole M, Need, Anna C, Ge, Dongliang, He, Min, Cirulli, Elizabeth T, Zhao, Qian, Cronin, Kenneth D, Gumbs, Curtis E, Campbell, C Ryan, Hong, Linda K, Maia, Jessica M, Shianna, Kevin V, McCormack, Mark, Radtke, Rodney A, O'Conner, Gerard D, Mikati, Mohamad A, Gallentine, William B, Husain, Aatif M, Sinha, Saurabh R, Chinthapalli, Krishna, Puranam, Ram S, McNamara, James O, Ottman, Ruth, Sisodiya, Sanjay M, Delanty, Norman, Goldstein, David B, Heinzen, Erin, Depondt, Chantal, Cavalleri, Gianpiero L, Ruzzo, Elizabeth K, Walley, Nicole M, Need, Anna C, Ge, Dongliang, He, Min, Cirulli, Elizabeth T, Zhao, Qian, Cronin, Kenneth D, Gumbs, Curtis E, Campbell, C Ryan, Hong, Linda K, Maia, Jessica M, Shianna, Kevin V, McCormack, Mark, Radtke, Rodney A, O'Conner, Gerard D, Mikati, Mohamad A, Gallentine, William B, Husain, Aatif M, Sinha, Saurabh R, Chinthapalli, Krishna, Puranam, Ram S, McNamara, James O, Ottman, Ruth, Sisodiya, Sanjay M, Delanty, Norman, and Goldstein, David B

Abstract

Idiopathic generalized epilepsy (IGE) is a complex disease with high heritability, but little is known about its genetic architecture. Rare copy-number variants have been found to explain nearly 3% of individuals with IGE; however, it remains unclear whether variants with moderate effect size and frequencies below what are reliably detected with genome-wide association studies contribute significantly to disease risk. In this study, we compare the exome sequences of 118 individuals with IGE and 242 controls of European ancestry by using next-generation sequencing. The exome-sequenced epilepsy cases include study subjects with two forms of IGE, including juvenile myoclonic epilepsy (n = 93) and absence epilepsy (n = 25). However, our discovery strategy did not assume common genetic control between the subtypes of IGE considered. In the sequence data, as expected, no variants were significantly associated with the IGE phenotype or more specific IGE diagnoses. We then selected 3,897 candidate epilepsy-susceptibility variants from the sequence data and genotyped them in a larger set of 878 individuals with IGE and 1,830 controls. Again, no variant achieved statistical significance. However, 1,935 variants were observed exclusively in cases either as heterozygous or homozygous genotypes. It is likely that this set of variants includes real risk factors. The lack of significant association evidence of single variants with disease in this two-stage approach emphasizes the high genetic heterogeneity of epilepsy disorders, suggests that the impact of any individual single-nucleotide variant in this disease is small, and indicates that gene-based approaches might be more successful for future sequencing studies of epilepsy predisposition., Journal Article, Research Support, N.I.H. Extramural, Research Support, Non-U.S. Gov't, SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2012

49. Host genetics and HIV-1: the final phase?

Author

Fellay, Jacques, Shianna, Kevin V., Telenti, Amalio, Goldstein, David B., Fellay, Jacques, Shianna, Kevin V., Telenti, Amalio, and Goldstein, David B.

Abstract

This is a crucial transition time for human genetics in general, and for HIV host genetics in particular. After years of equivocal results from candidate gene analyses, several genome-wide association studies have been published that looked at plasma viral load or disease progression. Results from other studies that used various large-scale approaches (siRNA screens, transcriptome or proteome analysis, comparative genomics) have also shed new light on retroviral pathogenesis. However, most of the inter-individual variability in response to HIV-1 infection remains to be explained: genome resequencing and systems biology approaches are now required to progress toward a better understanding of the complex interactions between HIV-1 and its human host

Published
2011
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50. Copy number variation of KIR genes influences HIV-1 control

Author

Pelak, Kimberly, Need, Anna C, Fellay, Jacques, Shianna, Kevin V, Feng, Sheng, Urban, Thomas, Ge, Dongliang, De Luca, Andrea, Martinez-Picado, Javier, Wolinsky, Steven M, Martinson, Jeremy J, Jamieson, Beth D, Bream, Jay H, Martin, Maureen P, Borrow, Persephone, Letvin, Norman L, McMichael, Andrew J, Haynes, Barton F, Telenti, Amalio, Carrington, Mary, Goldstein, David B, Alter, Galit, Obel, Niels, Pelak, Kimberly, Need, Anna C, Fellay, Jacques, Shianna, Kevin V, Feng, Sheng, Urban, Thomas, Ge, Dongliang, De Luca, Andrea, Martinez-Picado, Javier, Wolinsky, Steven M, Martinson, Jeremy J, Jamieson, Beth D, Bream, Jay H, Martin, Maureen P, Borrow, Persephone, Letvin, Norman L, McMichael, Andrew J, Haynes, Barton F, Telenti, Amalio, Carrington, Mary, Goldstein, David B, Alter, Galit, and Obel, Niels

Abstract

A genome-wide screen for large structural variants showed that a copy number variant (CNV) in the region encoding killer cell immunoglobulin-like receptors (KIR) associates with HIV-1 control as measured by plasma viral load at set point in individuals of European ancestry. This CNV encompasses the KIR3DL1-KIR3DS1 locus, encoding receptors that interact with specific HLA-Bw4 molecules to regulate the activation of lymphocyte subsets including natural killer (NK) cells. We quantified the number of copies of KIR3DS1 and KIR3DL1 in a large HIV-1 positive cohort, and showed that an increase in KIR3DS1 count associates with a lower viral set point if its putative ligand is present (p = 0.00028), as does an increase in KIR3DL1 count in the presence of KIR3DS1 and appropriate ligands for both receptors (p = 0.0015). We further provide functional data that demonstrate that NK cells from individuals with multiple copies of KIR3DL1, in the presence of KIR3DS1 and the appropriate ligands, inhibit HIV-1 replication more robustly, and associated with a significant expansion in the frequency of KIR3DS1+, but not KIR3DL1+, NK cells in their peripheral blood. Our results suggest that the relative amounts of these activating and inhibitory KIR play a role in regulating the peripheral expansion of highly antiviral KIR3DS1+ NK cells, which may determine differences in HIV-1 control following infection.

Published
2011

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