Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Anna Pluzhnikov"'
Autor:
Alexandra M. Dumitrescu, Kathleen Wyne, Theodora Pappa, Kevin P. White, Alfonso Massimiliano Ferrara, Roy E. Weiss, Marcelo A. Nobrega, Vassily Trubetskoy, Christopher D. Brown, Samuel Refetoff, Anna Pluzhnikov, April Peterson, Jiao Fu, Lars C. Moeller
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 100:E173-E181
T4-binding globulin (TBG), a protein secreted by the liver, is the main thyroid hormone (TH) transporter in human serum. TBG deficiency is characterized by reduced serum TH levels, but normal free TH and TSH and absent clinical manifestations. The in
Autor:
Helena Garrido, Richard O'Brien, Michael H. Bloch, David L. Pauls, M. Van Der Brug, Anna Tikhomirov, Andrew B. Singleton, Susanne Walitza, Benjamin M. Neale, Patrick Evans, Rianne M. Blom, Mina Ryten, James L. Kennedy, Christopher Pittenger, C. Illman, Amin Azzam, Stephen A. Haddad, Gregory L. Hanna, Michele T. Pato, D. Rosenberg, Maurizio Turiel, Stephan Ruhrmann, Peter Falkai, Nuria Lanzagorta, Richard Delorme, D. G. Hernandez, Leonhard Lennertz, Abby J. Fyer, M Conceição do Rosário, Euripedes Constantino Miguel, John Hardy, Carlos N. Pato, Francesca Frau, Hans-Jörgen Grabe, Daniele Cusi, Alan B. Zonderman, Dieter Deforce, Peter Heutink, Brooke Sheppard, Jacquelyn Crane, Dongmei Yu, Danielle C. Cath, Rainald Moessner, Nancy J. Cox, Shaun Purcell, James A. Knowles, Daniel B. Mirel, Aline S. Sampaio, D. L. Murphy, R. Johnson, Jens R. Wendland, David V. Conti, Carolina Cappi, Paula Umaña, Marco A. Grados, Dan J. Stein, J. R. Gibbs, Humberto Nicolini, Anna Pluzhnikov, Denise A. Chavira, F. Van Nieuwerburgh, Valsamma Eapen, Lisa Osiecki, Christine Lochner, Juan C. Troncoso, Jeremy Veenstra-VanderWeele, Mark A. Riddle, Michael Wagner, Jeremiah M. Scharf, Beatriz Camarena, Edwin H. Cook, Ana Gabriela Hounie, Daniah Trabzuni, Donald W. Black, Scott L. Rauch, Marion Leboyer, Andrew Crenshaw, S. E. Stewart, Roel A. Ophoff, Dianne M. Hezel, Damiaan Denys, Gerald Nestadt, Melissa Parkin, Karin Egberts, Colin Smith, Anuar Konkashbaev, Danielle Posthuma, Vladimir Coric, James F. Leckman, Eric Strengman, Jack Samuels, Tobias J. Renner, Michael E. Weale, L. Ferrucci, Mark R. Cookson, Laura Bellodi, Oscar J. Bienvenu, C. Mayerfeld, Christopher K. Edlund, Youfa Wang, Robert Walker, Dan L. Longo, Maria Cristina Cavallini, James T. McCracken, Jesen Fagerness, H. R. Zielke, Homero Vallada, Chunyu Liu, Bernadette Cullen, Carol A. Mathews, Sian M. J. Hemmings, Allissa Dillman, E. Voyiaziakis, Fabio Macciardi, Eduardo Fournier, Benjamin D. Greenberg, Eric R. Gamazon, S. Arepalli, Margaret A. Richter, Bryan J. Traynor, Michael A. Jenike, J.H. Smit, M. A. Nalls, Lauren M. McGrath, Paul D. Arnold, H.G.M. Westenberg, W. Maier
Publikováno v:
MOLECULAR PSYCHIATRY
Molecular psychiatry, 18(7), 788-798. Nature Publishing Group
Stewart, S E, Yu, D, Scharf, J M, Neale, B M, Fagerness, J A, Mathews, C A, Arnold, P D, Evans, P D, Gamazon, E R, Davis, L K, Osiecki, L, McGrath, L, Haddad, S, Crane, J, Hezel, D, Illmann, C, Mayerfeld, C, Konkashbaev, A I, Liu, C, Pluzhnikov, A, Tikhomirov, A, Edlund, C K, Rauch, S L, Moessner, R, Falkai, P, Maier, W, Ruhrmann, S, Grabe, H J, Lennertz, L, Wagner, M, Bellodi, L, Cavallini, M C, Richter, M A, Cook, E H, Kennedy, J L, Rosenberg, D, Stein, D J, Hemmings, S M, Lochner, C, Azzam, A, Chavira, D A, Fournier, E, Garrido, H, Sheppard, B, Umaña, P, Murphy, D L, Wendland, J R, Veenstra-Vanderweele, J, Denys, D, Blom, R, Deforce, D, van Nieuwerburgh, F, Westenberg, H G, Walitza, S, Egberts, K, Renner, T, Miguel, E C, Cappi, C, Hounie, A G, Conceição do Rosário, M, Sampaio, A S, Vallada, H, Nicolini, H, Lanzagorta, N, Camarena, B, Delorme, R, Leboyer, M, Pato, C N, Pato, M T, Voyiaziakis, E, Heutink, P, Cath, D C, Posthuma, D, Smit, J H, Samuels, J, Bienvenu, O J, Cullen, B, Fyer, A J, Grados, M A, Greenberg, B D, McCracken, J T, Riddle, M A, Wang, Y, Coric, V, Leckman, J F, Bloch, M, Pittenger, C, Eapen, V, Black, D W, Ophoff, R A, Strengman, E, Cusi, D, Turiel, M, Frau, F, Macciardi, F, Gibbs, J R, Cookson, M R, Singleton, A, Hardy, J, Crenshaw, A T, Parkin, M A, Mirel, D B, Conti, D V, Purcell, S, Nestadt, G, Hanna, G L, Jenike, M A, Knowles, J A, Cox, N & Pauls, D L 2013, ' Genome-wide association study of obsessive-compulsive disorder ', Molecular Psychiatry, vol. 18, no. 7, pp. 788-798 . https://doi.org/10.1038/mp.2012.85
Molecular Psychiatry, 18(7), 788-798. Nature Publishing Group
Molecular Psychiatry, 18, 788-798. Nature Publishing Group
Molecular psychiatry, 18(7), 788-798. Nature Publishing Group
Stewart, S E, Yu, D, Scharf, J M, Neale, B M, Fagerness, J A, Mathews, C A, Arnold, P D, Evans, P D, Gamazon, E R, Davis, L K, Osiecki, L, McGrath, L, Haddad, S, Crane, J, Hezel, D, Illmann, C, Mayerfeld, C, Konkashbaev, A I, Liu, C, Pluzhnikov, A, Tikhomirov, A, Edlund, C K, Rauch, S L, Moessner, R, Falkai, P, Maier, W, Ruhrmann, S, Grabe, H J, Lennertz, L, Wagner, M, Bellodi, L, Cavallini, M C, Richter, M A, Cook, E H, Kennedy, J L, Rosenberg, D, Stein, D J, Hemmings, S M, Lochner, C, Azzam, A, Chavira, D A, Fournier, E, Garrido, H, Sheppard, B, Umaña, P, Murphy, D L, Wendland, J R, Veenstra-Vanderweele, J, Denys, D, Blom, R, Deforce, D, van Nieuwerburgh, F, Westenberg, H G, Walitza, S, Egberts, K, Renner, T, Miguel, E C, Cappi, C, Hounie, A G, Conceição do Rosário, M, Sampaio, A S, Vallada, H, Nicolini, H, Lanzagorta, N, Camarena, B, Delorme, R, Leboyer, M, Pato, C N, Pato, M T, Voyiaziakis, E, Heutink, P, Cath, D C, Posthuma, D, Smit, J H, Samuels, J, Bienvenu, O J, Cullen, B, Fyer, A J, Grados, M A, Greenberg, B D, McCracken, J T, Riddle, M A, Wang, Y, Coric, V, Leckman, J F, Bloch, M, Pittenger, C, Eapen, V, Black, D W, Ophoff, R A, Strengman, E, Cusi, D, Turiel, M, Frau, F, Macciardi, F, Gibbs, J R, Cookson, M R, Singleton, A, Hardy, J, Crenshaw, A T, Parkin, M A, Mirel, D B, Conti, D V, Purcell, S, Nestadt, G, Hanna, G L, Jenike, M A, Knowles, J A, Cox, N & Pauls, D L 2013, ' Genome-wide association study of obsessive-compulsive disorder ', Molecular Psychiatry, vol. 18, no. 7, pp. 788-798 . https://doi.org/10.1038/mp.2012.85
Molecular Psychiatry, 18(7), 788-798. Nature Publishing Group
Molecular Psychiatry, 18, 788-798. Nature Publishing Group
Obsessive-compulsive disorder (OCD) is a common, debilitating neuropsychiatric illness with complex genetic etiology. The International OCD Foundation Genetics Collaborative (IOCDF-GC) is a multi-national collaboration established to discover the gen
Autor:
Lea K. Davis, Harvey S. Singer, Thomas L. Lowe, Jacquelyn Crane, James F. Leckman, P. C. Lee, Simon Girard, Yves Dion, Danielle Posthuma, Rainald Moessner, Gary A. Heiman, Jubel Morgan, Gholson J. Lyon, K. Anderson, Andres Ruiz-Linares, William Cornejo Ochoa, Robert A. King, Daniel B. Mirel, Jesen Fagerness, Gerald Erenberg, John T. Walkup, Patrick Evans, Pieter J. Hoekstra, Buhm Han, James A. Knowles, Desmond Campbell, Paul Sandor, Gabriel Bedoya Berrío, Martha Rangel-Lugo, Eric R. Gamazon, Lisa Osiecki, William M. McMahon, Eric Strengman, S. E. Stewart, Mark Leppert, David L. Pauls, Anna Pluzhnikov, Luis Diego Herrera, AB Singleton, Priya Moorjani, Nelson B. Freimer, Ben A. Oostra, Peter Heutink, Shaun Purcell, Guy A. Rouleau, Cathy L. Budman, David V. Conti, Anna Tikhomirov, John Hardy, S. C. Mesa Restrepo, Barbara Kremeyer, S. Davarya, Cornelia Illmann, Kenneth K. Kidd, Andrew Crenshaw, J.R. Kidd, J. C. Cardona Silgado, R. Kurlan, Chunyu Liu, Robert B. Weiss, Mary M. Robertson, A.J. Pakstis, A. V. Valencia Duarte, Thomas V. Fernandez, Roel A. Ophoff, Matthew W. State, Sylvain Chouinard, Cathy L. Barr, N. Phan, Eduardo Fournier, H. Müller, Nancy J. Cox, Nicholas T. Weiss, Varda Gross-Tsur, Eskin E, Roxana Romero, Jay A. Tischfield, J. R. Gibbs, Allan L. Naarden, J.H. Smit, Marco A. Grados, Anuar Konkashbaev, Chiara Sabatti, Melissa Parkin, Christopher K. Edlund, Carol A. Mathews, Ruth D. Bruun, Joseph Jankovic, Donald L. Gilbert, Fortu Benarroch, Victor I. Reus, Michael Wagner, Jeremiah M. Scharf, Dongmei Yu, Danielle C. Cath, Benjamin M. Neale, Yehuda Pollak
Publikováno v:
Scharf, J M, Yu, D, Mathews, C A, Neale, B M, Stewart, S E, Fagerness, J A, Evans, P, Gamazon, E R, Edlund, C K, Service, S K, Tikhomirov, A, Osiecki, L, Illmann, C, Pluzhnikov, A, Konkashbaev, A I, Davis, L K, Han, B, Crane, J, Moorjani, P, Crenshaw, A T, Parkin, M A, Reus, V I, Lowe, T L, Rangel-Lugo, M, Chouinard, S, Dion, Y, Girard, S, Cath, D C, Smit, J H, King, R A, Fernandez, T V, Leckman, J F, Kidd, K K, Kidd, J R, Pakstis, A J, State, M W, Herrera, L D, Romero, R, Fournier, E, Sandor, P, Barr, C L, Phan, N, Gross-Tsur, V, Benarroch, F, Pollak, Y, Budman, C L, Bruun, R D, Erenberg, G, Naarden, A L, Lee, P C, Weiss, N, Kremeyer, B, Berrio, G B, Campbell, D D, Cardona Silgado, J C, Ochoa, W C, Mesa Restrepo, S C, Muller, H, Valencia Duarte, A V, Lyon, G J, Leppert, M, Morgan, J, Weiss, R, Grados, M A, Anderson, K, Davarya, S, Singer, H, Walkup, J, Jankovic, J, Tischfield, J A, Heiman, G A, Gilbert, D L, Hoekstra, P J, Robertson, M M, Kurlan, R, Liu, C, Gibbs, J R, Singleton, A, Hardy, J, Strengman, E, Ophoff, R A, Wagner, M, Moessner, R, Mirel, D B, Posthuma, D, Sabatti, C, Eskin, E, Conti, D V, Knowles, J A, Ruiz-Linares, A, Rouleau, G A, Purcell, S, Heutink, P, Oostra, B A, McMahon, W M, Freimer, N B, Cox, N J & Pauls, D L 2013, ' Genome-wide association study of Tourette's syndrome ', Molecular Psychiatry, vol. 18, no. 6, pp. 721-728 . https://doi.org/10.1038/mp.2012.69
Molecular psychiatry
Molecular Psychiatry, 18(6), 721-728. Nature Publishing Group
Molecular Psychiatry, 18, 721-728. Nature Publishing Group
Molecular psychiatry
Molecular Psychiatry, 18(6), 721-728. Nature Publishing Group
Molecular Psychiatry, 18, 721-728. Nature Publishing Group
Tourette's syndrome (TS) is a developmental disorder that has one of the highest familial recurrence rates among neuropsychiatric diseases with complex inheritance. However, the identification of definitive TS susceptibility genes remains elusive. He
Autor:
Nancy J. Cox, Jennifer E. Below, Cheryl A. Roe, Anncn A. Tikhomirov, Emily Kistner-Griffin, Anuar Konkashbaev, Anna Pluzhnikov, Dan L. Nicolae
Publikováno v:
The American Journal of Human Genetics. 87(1):123-128
False-positive or false-negative results attributable to undetected genotyping errors and confounding factors present a constant challenge for genome-wide association studies (GWAS) given the low signals associated with complex phenotypes and the noi
Identification of Type 2 Diabetes Genes in Mexican Americans Through Genome-Wide Association Studies
Autor:
Cheryl A. Roe, Graeme I. Bell, Kazuaki Miyake, Maggie C.Y. Ng, M. Geoffrey Hayes, Anuar Konkashbaev, Anna Pluzhnikov, Nancy J. Cox, Jennifer E. Below, Craig L. Hanis, Ying Sun, Raluca Nicolae
Publikováno v:
Diabetes. 56:3033-3044
OBJECTIVE—The objective of this study was to identify DNA polymorphisms associated with type 2 diabetes in a Mexican-American population. RESEARCH DESIGN AND METHODS—We genotyped 116,204 single nucleotide polymorphisms (SNPs) in 281 Mexican Ameri
Autor:
Siri Atma W. Greeley, Anna Pluzhnikov, Nancy J. Cox, Emma L. Edghill, Julie Støy, Sarah E. Flanagan, Louis H. Philipson, Honggang Ye, Donald F. Steiner, Jennifer E. Below, Andrew T. Hattersley, Veronica Paz, Rebecca B. Lipton, Gregory M. Lipkind, Sian Ellard, Graeme I. Bell, M. Geoffrey Hayes, Ann-Marie Patch
Publikováno v:
Støy, J, Edghill, E L, Flanagan, S E, Ye, H, Paz, V P, Pluzhnikov, A, Below, J E, Hayes, M G, Cox, N J, Lipkind, G M, Lipton, R B, Greeley, S A W, Patch, A-M, Ellard, S, Steiner, D F, Hattersley, A T, Philipson, L H, Bell, G I & Neonatal Diabetes International Collaborative Group 2007, ' Insulin gene mutations as a cause of permanent neonatal diabetes ', Proceedings of the National Academy of Sciences of the United States of America, vol. 104, no. 38, pp. 15040-4 . https://doi.org/10.1073/pnas.0707291104
We report 10 heterozygous mutations in the human insulin gene in 16 probands with neonatal diabetes. A combination of linkage and a candidate gene approach in a family with four diabetic members led to the identification of the initial INS gene mutat
Publikováno v:
The American Journal of Human Genetics. 81(1):165-169
Reproductive fitness is a complex phenotype that is a direct measure of Darwinian selection. Estimation of the genetic contribution to this phenotype in human populations is confounded by within-family correlations of sociocultural, economic, and oth
Autor:
Dennis Drayna, Anna Pluzhnikov, Sheikh Riazuddin, Stacy Steinberg, Jamil Ahmad, Nancy J. Cox, Naveeda Riaz
Publikováno v:
The American Journal of Human Genetics. 76(4):647-651
Stuttering is a common and sometimes severe communication disorder, of unknown primary etiology, that exists in populations worldwide. Many types of evidence suggest a genetic contribution to stuttering; however, the complex inheritance of this disor
Autor:
Alan R. Dyer, Brian T. Layden, William L. Lowe, Douglas A. Scheftner, Timothy E. Reddy, Boyd E. Metzger, Loren L. Armstrong, Cong Guo, Caitlin P. McHugh, Luigi Bouchard, M. Geoffrey Hayes, Marie-France Hivert, Kimberly F. Doheny, Nancy J. Cox, Rachel N. Lown-Hecht, Anna Pluzhnikov, Jean Morrison, Lynn P. Lowe, David M. Levine, Diane Brisson, Margrit Urbanek, Daniel B. Mirel, Marysa V. Leya, Christine M. Ackerman
Publikováno v:
Diabetes
Maternal metabolism during pregnancy impacts the developing fetus, affecting offspring birth weight and adiposity. This has important implications for metabolic health later in life (e.g., offspring of mothers with pre-existing or gestational diabete
Autor:
Nicholas P. Tatonetti, Matthew Tector, Nita A. Limdi, Taisei Mushiroda, Dan M. Roden, Michael J. Wagner, Harumi Takahashi, Panos Deloukas, Eric R. Gamazon, Roxana Daneshjou, Matthew T. Oetjens, Teri E. Klein, Karen E. Weck, Stephane Bourgeois, Alan H.B. Wu, Robert J. Desnick, Nancy J. Cox, Michiaki Kubo, Jelai Wang, Hersh Sagreiya, Jonathan L. Halperin, Mark J. Rieder, Stuart A. Scott, Sherief Khalifa, Minoli A. Perera, Taimour Y. Langaee, Shitalben R. Patel, James K. Burmester, Dana C. Crawford, Yukiko Bradford, Anuar Konkashbaev, Steven A. Lubitz, Yusuke Nakamura, Benjamin Burkley, Russ B. Altman, Edith A. Nutescu, Nianjun Liu, Larisa H. Cavallari, Mia Wadelius, Anna Pluzhnikov, Mohamed H. Shahin, Julie A. Johnson
Publikováno v:
Lancet (London, England). 382(9894)
Summary BackgroundVKORC1 and CYP2C9 are important contributors to warfarin dose variability, but explain less variability for individuals of African descent than for those of European or Asian descent. We aimed to identify additional variants contrib