Repeat Associated Non-AUG Translation (RAN Translation) Dependent on Sequence Downstream of the ATXN2 CAG Repeat.

Autor: Daniel R Scoles, Mi H T Ho, Warunee Dansithong, Lance T Pflieger, Lance W Petersen, Khanh K Thai, Stefan M Pulst

Publikováno v: PLoS ONE, Vol 10, Iss 6, p e0128769 (2015)

Spinocerebellar ataxia type 2 (SCA2) is a progressive autosomal dominant disorder caused by the expansion of a CAG tract in the ATXN2 gene. The SCA2 disease phenotype is characterized by cerebellar atrophy, gait ataxia, and slow saccades. ATXN2 mutat

Externí odkaz: https://doaj.org/article/440f5061fa9b48f2801e3eeb7e703aec

Development and Validation of a Diabetic Retinopathy Risk Stratification Algorithm

Autor: Dariusz Tarasewicz, Andrew J. Karter, Noel Pimentel, Howard H. Moffet, Khanh K. Thai, David Schlessinger, Oleg Sofrygin, Ronald B. Melles

Publikováno v: Diabetes Care. 46:1068-1075

OBJECTIVE Although diabetic retinopathy is a leading cause of blindness worldwide, diabetes-related blindness can be prevented through effective screening, detection, and treatment of disease. The study goal was to develop risk stratification algorit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d00c4334d7d7ab635878dc3f9acd4b5a
https://doi.org/10.2337/dc22-1168

Trends and Risk Factors for Venous Thromboembolism Among Hospitalized Medical Patients

Autor: Elad Neeman, Vincent Liu, Pranita Mishra, Khanh K. Thai, James Xu, Heather A. Clancy, David Schlessinger, Raymond Liu

Publikováno v: JAMA network open. 5(11)

ImportanceWhile hospital-associated venous thromboembolism (HA-VTE) is a known complication of hospitalization, contemporary incidence and outcomes data are scarce and methodologically contested.ObjectiveTo define and validate an automated electronic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::241be2d7d87caaea4c591918b6948755
https://pubmed.ncbi.nlm.nih.gov/36409498

Pathway Analysis of Renal Cell Carcinoma Genome-Wide Association Studies Identifies Novel Associations

Autor: Nathaniel Rothman, Mark P. Purdue, Khanh K. Thai, Paul Brennan, G. Scelo, Lori C. Sakoda, Rebecca E. Graff, Lei Song, Stephen J. Chanock, Kai Yu, Richard S. Houlston, Xifeng Wu

Publikováno v: Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, vol 29, iss 10

Background: Much of the heritable risk of renal cell carcinoma (RCC) associated with common genetic variation is unexplained. New analytic approaches have been developed to increase the discovery of risk variants in genome-wide association studies (G

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba0028d372cf979becf1f0258085b92a
https://doi.org/10.1158/1055-9965.epi-20-0472

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder

Autor: Arianna DiFlorio, Patrick F. Sullivan, Sebastian Zöllner, Margarita Rivera, Richard M. Myers, Stanley J. Watson, Jun Li, Anders Juréus, Sarah E. Bergen, Gonçalo R. Abecasis, Jordan W. Smoller, Michael Conlon O'Donovan, Neil Risch, Hoang T. Nguyen, Chen Jiang, Xiaoming Jia, Mehdi Pirooznia, Danielle Posthuma, Adam E. Locke, Peter P. Zandi, John B. Vincent, Niamh Mullins, Duncan Palmer, Shaun Purcell, Gerome Breen, Christina M. Hultman, Andreas Reif, Khanh K. Thai, Virginia L. Willour, Pui-Yan Kwok, Laura J. Scott, Anne U. Jackson, Michael John Owen, Fernando S. Goes, Steven A. McCarroll, James B. Potash, Mikael Landén, Jennifer L. Moran, Michele T. Pato, Hyun Min Kang, Marco P. Boks, Sinéad B. Chapman, W. Richard McCombie, Janet L. Sobell, Matthew Zawistowski, Rolf Adolfsson, Yongwen Zhuang, Michael Boehnke, René S. Kahn, Huda Akil, James T.R. Walters, Margit Burmeister, Douglas Blackwood, Cathryn M. Lewis, Eli A. Stahl, Mark N. Kvale, Melissa DelaBastide, Catherine Schaefer, Benjamin M. Neale, Giulio Genovese, Carlos N. Pato, Nicholas John Craddock, Andrew McQuillin, Shawn Levy, Aiden Corvin, Pamela Sklar, Weiqing Wang, Andrew M. McIntosh, Ling Shen, Eric T. Monson, Derek W. Morris, Douglas M. Ruderfer, Roel A. Ophoff, Peter McGuffin, Sarah Cohen-Woods, Willem H. Ouwehand

Publikováno v: Molecular Psychiatry, 26(9), 5239-5250. Nature Publishing Group
Molecular psychiatry, vol 26, iss 9
Jia, X, Goes, F S, Locke, A E, Palmer, D, Wang, W, Cohen-Woods, S, Genovese, G, Jackson, A U, Jiang, C, Kvale, M, Mullins, N, Nguyen, H, Pirooznia, M, Rivera, M, Ruderfer, D M, Shen, L, Thai, K, Zawistowski, M, Zhuang, Y, Abecasis, G, Akil, H, Bergen, S, Burmeister, M, Chapman, S, DelaBastide, M, Juréus, A, Kang, H M, Kwok, P Y, Li, J Z, Levy, S E, Monson, E T, Moran, J, Sobell, J, Watson, S, Willour, V, Zöllner, S, Adolfsson, R, Blackwood, D, Boehnke, M, Breen, G, Corvin, A, Craddock, N, DiFlorio, A, Hultman, C M, Landen, M, Lewis, C, McCarroll, S A, Richard McCombie, W, McGuffin, P, McIntosh, A, McQuillin, A, Morris, D, Myers, R M, O’Donovan, M, Ophoff, R, Boks, M, Kahn, R, Ouwehand, W, Owen, M, Pato, C, Pato, M, Posthuma, D, Potash, J B, Reif, A, Sklar, P, Smoller, J, Sullivan, P F, Vincent, J, Walters, J, Neale, B, Purcell, S, Risch, N, Schaefer, C, Stahl, E A, Zandi, P P & Scott, L J 2021, ' Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder ', Molecular Psychiatry, vol. 26, no. 9, pp. 5239-5250 . https://doi.org/10.1038/s41380-020-01006-9
Molecular Psychiatry
Jia, X, Goes, F S, Locke, A E, Palmer, D, Wang, W, Cohen-Woods, S, Genovese, G, Jackson, A U, Jiang, C, Kvale, M, Mullins, N, Nguyen, H, Pirooznia, M, Rivera, M, Ruderfer, D M, Shen, L, Thai, K, Zawistowski, M, Zhuang, Y, Abecasis, G, Akil, H, Bergen, S, Burmeister, M, Champion, S, DelaBastide, M, Juréus, A, Kang, H M, Kwok, P-Y, Li, J Z, Levy, S E, Monson, E T, Moran, J, Sobell, J, Watson, S, Willour, V, Zöllner, S, Adolfsson, R, Blackwood, D, Boehnke, M, Breen, G, Corvin, A, Craddock, N, DiFlorio, A, Hultman, C M, Landen, M, Lewis, C, McCarroll, S A, Richard McCombie, W, McGuffin, P, McIntosh, A, McQuillin, A, Morris, D, Myers, R M, O’Donovan, M, Ophoff, R, Boks, M, Kahn, R, Ouwehand, W, Owen, M, Pato, C, Pato, M, Posthuma, D, Potash, J B, Reif, A, Sklar, P, Smoller, J, Sullivan, P F, Vincent, J, Walters, J, Neale, B, Purcell, S, Risch, N, Schaefer, C, Stahl, E A, Zandi, P P & Scott, L J 2021, ' Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder ', Molecular Psychiatry, vol. 26, no. 9, pp. 5239-5250 . https://doi.org/10.1038/s41380-020-01006-9
Jia, X, Goes, F S, Locke, A E, Palmer, D, Wang, W, Cohen-woods, S, Genovese, G, Jackson, A U, Jiang, C, Kvale, M, Mullins, N, Nguyen, H, Pirooznia, M, Rivera, M, Ruderfer, D M, Shen, L, Thai, K, Zawistowski, M, Zhuang, Y, Abecasis, G, Akil, H, Bergen, S, Burmeister, M, Chapman, S, Delabastide, M, Juréus, A, Kang, H M, Kwok, P, Li, J Z, Levy, S E, Monson, E T, Moran, J, Sobell, J, Watson, S, Willour, V, Zöllner, S, Adolfsson, R, Blackwood, D, Boehnke, M, Breen, G, Corvin, A, Craddock, N, Diflorio, A, Hultman, C M, Landen, M, Lewis, C, Mccarroll, S A, Richard Mccombie, W, Mcguffin, P, Mcintosh, A, Mcquillin, A, Morris, D, Myers, R M, O’donovan, M, Ophoff, R, Boks, M, Kahn, R, Ouwehand, W, Owen, M, Pato, C, Pato, M, Posthuma, D, Potash, J B, Reif, A, Sklar, P, Smoller, J, Sullivan, P F, Vincent, J, Walters, J, Neale, B, Purcell, S, Risch, N, Schaefer, C, Stahl, E A, Zandi, P P & Scott, L J 2021, ' Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder ', Molecular Psychiatry . https://doi.org/10.1038/s41380-020-01006-9
Digibug. Repositorio Institucional de la Universidad de Granada
instname
Digibug: Repositorio Institucional de la Universidad de Granada
Universidad de Granada (UGR)

Bipolar disorder (BD) is a serious mental illness with substantial common variant heritability. However, the role of rare coding variation in BD is not well established. We examined the protein-coding (exonic) sequences of 3,987 unrelated individuals

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2b28270dff0616afd7d691245b0f9b8
https://research.vu.nl/en/publications/5db60cd7-dd49-4271-b724-a8cb3ceb8d2c