Identification of a common polymorphism in COQ8B acting as a modifier of thoracic aortic aneurysm severity

Autor: Benjamin J. Landis, Dongbing Lai, Dong-Chuan Guo, Joel S. Corvera, Muhammad T. Idrees, Henry W. Stadler, Christian Cuevas, Gavin U. Needler, Courtney E. Vujakovich, Dianna M. Milewicz, Robert B. Hinton, Stephanie M. Ware

Publikováno v: HGG Advances, Vol 3, Iss 1, Pp 100057- (2022)

Summary: Thoracic aortic aneurysm (TAA) predisposes to sudden, life-threatening aortic dissection. The factors that regulate interindividual variability in TAA severity are not well understood. Identifying a molecular basis for this variability has t

Externí odkaz: https://doaj.org/article/60059b4211c04ccaaf92dff1bc736065

Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms

Autor: Femke N. G. van ’t Hof, Ynte M. Ruigrok, Cue Hyunkyu Lee, Stephan Ripke, Graig Anderson, Mariza de Andrade, Annette F. Baas, Jan D. Blankensteijn, Erwin P. Böttinger, Matthew J. Bown, Joseph Broderick, Philippe Bijlenga, David S. Carrell, Dana C. Crawford, David R. Crosslin, Christian Ebeling, Johan G. Eriksson, Myriam Fornage, Tatiana Foroud, Mikael von und zu Fraunberg, Christoph M. Friedrich, Emília I. Gaál, Omri Gottesman, Dong‐Chuan Guo, Seamus C. Harrison, Juha Hernesniemi, Albert Hofman, Ituro Inoue, Juha E. Jääskeläinen, Gregory T. Jones, Lambertus A. L. M. Kiemeney, Riku Kivisaari, Nerissa Ko, Seppo Koskinen, Michiaki Kubo, Iftikhar J. Kullo, Helena Kuivaniemi, Mitja I. Kurki, Aki Laakso, Dongbing Lai, Suzanne M. Leal, Hanna Lehto, Scott A. LeMaire, Siew‐Kee Low, Jennifer Malinowski, Catherine A. McCarty, Dianna M. Milewicz, Thomas H. Mosley, Yusuke Nakamura, Hirofumi Nakaoka, Mika Niemelä, Jennifer Pacheco, Peggy L. Peissig, Joanna Pera, Laura Rasmussen‐Torvik, Marylyn D. Ritchie, Fernando Rivadeneira, Andre M. van Rij, Regie Lyn P. Santos‐Cortez, Athanasios Saratzis, Agnieszka Slowik, Atsushi Takahashi, Gerard Tromp, André G. Uitterlinden, Shefali S. Verma, Sita H. Vermeulen, Gao T. Wang, Buhm Han, Gabriël J. E. Rinkel, Paul I. W. de Bakker, Ana Verissimo, Benjamin J. Wright, Suzannah Bumpstead, Solveig Gretarsdottir, Stephen A. Badger, Anne H. Child, Rachel E. Clough, Gillian Cockerill, Hany Hafez, D. Julian A. Scott, Simon Futers, Soroush Sohrabi, Alberto Smith, Matthew M. Thompson, Frank M. van Bockxmeer, Stefan E. Matthiasson, Gudmar Thorleifsson, Unnur Thorsteinsdottir, Joep A. W. Teijink, Cisca Wijmenga, Jacqueline de Graaf, Lambertus A. Kiemeney, Jutta Palmen, Andrew J. Smith, Jes S. Lindholt, Declan T. Bradley, Matthew Waltham, Sarah Edkins, Rhian Gwilliam, Sarah E. Hunt, Simon Potter, Jonathan Golledge, Per Eriksson, Paul E. Norman, Janet T. Powell, Kari Stefansson, John R. Thompson, Steve E. Humphries, Robert D. Sayers, Panos Deloukas, Nilesh J. Samani, L. Victoria Phillip, Geraldine B. Hill, Michael J. A. Williams, Ian A. Thomson, Jo Krysa, Gerard T. Wilkins, Tony R. Merriman, Thodor M. Vasudevan, David R. Lewis, Ross D. Blair, Andrew A. Hill

Publikováno v: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 5, Iss 7 (2016)

BackgroundIntracranial aneurysms (IAs), abdominal aortic aneurysms (AAAs), and thoracic aortic aneurysms (TAAs) all have a familial predisposition. Given that aneurysm types are known to co‐occur, we hypothesized that there may be shared genetic ri

Externí odkaz: https://doaj.org/article/2acb672bf4a74a25b54ac4cd784f7c16

Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections.

Autor: Shao-Qing Kuang, Dong-Chuan Guo, Siddharth K Prakash, Merry-Lynn N McDonald, Ralph J Johnson, Min Wang, Ellen S Regalado, Ludivine Russell, Jiu-Mei Cao, Callie Kwartler, Kurt Fraivillig, Joseph S Coselli, Hazim J Safi, Anthony L Estrera, Suzanne M Leal, Scott A LeMaire, John W Belmont, Dianna M Milewicz, GenTAC Investigators

Publikováno v: PLoS Genetics, Vol 7, Iss 6, p e1002118 (2011)

Chromosomal deletions or reciprocal duplications of the 16p13.1 region have been implicated in a variety of neuropsychiatric disorders such as autism, schizophrenia, epilepsies, and attention-deficit hyperactivity disorder (ADHD). In this study, we i

Externí odkaz: https://doaj.org/article/df1a7fb790bc4e7aa3cd0e66bd910ad6

Human SMAD4 Genomic Variants Identified in Individuals with Heritable and Early-Onset Thoracic Aortic Disease

Autor: Dong-chuan Guo, Mary C. Wallingford, Michael J. Bamshad, Shreyas A. Bhave, Dianna M. Milewicz, Stoyan N. Angelov, Deborah A. Nickerson

Publikováno v: Cardiogenetics, Vol 11, Iss 15, Pp 132-138 (2021)
Cardiogenetics

Thoracic aortic aneurysms (TAAs) that progress to acute thoracic aortic dissections (TADs) are life-threatening vascular events that have been associated with altered transforming growth factor (TGF) β signaling. In addition to TAA, multiple genetic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a714d6a4288f1418b42a05b1ae90474
https://doi.org/10.3390/cardiogenetics11030015

An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease.

Autor: Dong-chuan Guo¹, Gupta, Prateek¹, Tran-Fadulu, Van¹, Guidry, Tera V.¹, Leduc, Magalie S.¹, Schaefer, Frederick V.², Milewicz, Dianna M.¹ Dianna.M.Milewicz@uth.tmc.edu

Publikováno v: Journal of Human Genetics. Nov2008, Vol. 53 Issue 11/12, p1007-1011. 5p. 1 Graph.