Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Van Tran Fadulu"'
Autor:
Cristina Boccalandro, Dong H. Kim, J. Zenger Hain, A. L. Lafont, Hariyadarshi Pannu, Peter H. Byers, Dianna M. Milewicz, Chul Ahn, Van Tran-Fadulu, Scott A. LeMaire, Joseph S. Coselli, Marcia C. Willing, S. Smart, G. W. Vick, Kirk L. Peterson, C. M. Lonsford
Publikováno v:
Journal of Medical Genetics. 46:607-613
Background: Mutations in the transforming growth factor β receptor type I and II genes ( TGFBR1 and TGFBR2 ) cause Loeys–Dietz syndrome (LDS), characterised by thoracic aortic aneurysms and dissections (TAAD), aneurysms and dissections of other ar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9760dc5a11ee405500539a66541557d1
https://doi.org/10.1136/jmg.2008.062844
https://doi.org/10.1136/jmg.2008.062844
Autor:
Sudha Veeraraghavan, Ralph J. Johnson, Dianna M. Milewicz, James T. Willerson, Van Tran-Fadulu, Dongchuan Guo, Eric Boerwinkle, Donna M. Muzny, Dong H. Kim, Ellen S. Regalado, Joseph S. Coselli, Christina L. Papke, Scott A. LeMaire, Ronald L. Dalman, Elizabeth Sparks, Anthony L. Estrera, James C. Grotta, Reed E. Pyeritz, Chander Raman, Ali J. Marian, Robert Yu, David A. Wheeler, Sanjay Shete, Steven E. Scherer, Nili Avidan, Hariyadarshi Pannu, Michael N. Singh, Marcia C. Willing, Lorraine Frazier, L. Maximilian Buja, Hazim J. Safi
Publikováno v:
The American Journal of Human Genetics. 84:617-627
The vascular smooth muscle cell (SMC)-specific isoform of alpha-actin (ACTA2) is a major component of the contractile apparatus in SMCs located throughout the arterial system. Heterozygous ACTA2 mutations cause familial thoracic aortic aneurysms and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ec8ccf2af1c37831d9f671291e815dc
https://doi.org/10.1016/j.ajhg.2009.04.007
https://doi.org/10.1016/j.ajhg.2009.04.007
Autor:
Chul Ahn, Chander Raman, Steve Scherer, Christina L. Papke, Anthony L. Estrera, Van Tran-Fadulu, Richard A. Lewis, Robert Yu, Hariyadarshi Pannu, Colin E. Willoughby, Vivienne McConnell, Marcia C. Willing, Dong H. Kim, Sanjay Shete, Elizabeth Sparks, Nili Avidan, David J. Amor, Poyee P. Tung, Dianna M. Milewicz, Hazim J. Safi, Scott Bourgeois, Dongchuan Guo, L. Maximilian Buja, Lesley C. Adès, Dianne N. Abuelo
Publikováno v:
Nature Genetics. 39:1488-1493
The major function of vascular smooth muscle cells (SMCs) is contraction to regulate blood pressure and flow. SMC contractile force requires cyclic interactions between SMC alpha-actin (encoded by ACTA2) and the beta-myosin heavy chain (encoded by MY
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71d004d16d8ac0149b01cd661b19715c
https://doi.org/10.1038/ng.2007.6
https://doi.org/10.1038/ng.2007.6
Autor:
Scott A. LeMaire, Van Tran-Fadulu, Stacey A. Carter, Hariyadarshi Pannu, Joseph S. Coselli, Dianna M Milewicz
Publikováno v:
Nature Clinical Practice Cardiovascular Medicine. 4:167-171
Background A 24-year-old man presented with previously diagnosed Marfan's syndrome. Since the age of 9 years, he had undergone eight cardiovascular procedures to treat rapidly progressive aneurysms, dissection and tortuous vascular disease involving
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::350554c650d1e1210e890d20c6635ae1
https://doi.org/10.1038/ncpcardio0797
https://doi.org/10.1038/ncpcardio0797
Autor:
Larry A. Kramer, Elizabeth Sparks, Van Tran-Fadulu, Alan C. Braverman, Nathan Gomes, Sanjay Shete, Hariyadarshi Pannu, Jiuhong Yuan, Bo T. Neichoy, Dianna M. Milewicz, Danielle Lemuth, Julia H. Chen, Dongchuan Guo
Publikováno v:
American Journal of Medical Genetics Part A. :1196-1202
Ascending thoracic aortic aneurysms leading to type A dissections can be inherited in an autosomal dominant manner with variable age of onset and decreased penetrance, primarily in women. Three families are described with autosomal dominant inheritan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d03d5edccec22bc410d37021d8a63c2f
https://doi.org/10.1002/ajmg.a.31236
https://doi.org/10.1002/ajmg.a.31236
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. :10-16
Ascending thoracic aortic aneurysms leading to type A dissections (TAAD) can occur in association with a genetic syndrome, such as Marfan syndrome (MFS), or as an autosomal dominant disorder in the absence of syndromic features, termed familial TAAD.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae3aa103be4423d3023026f59e12910f
https://doi.org/10.1002/ajmg.c.30069
https://doi.org/10.1002/ajmg.c.30069
Autor:
Chander Raman, Dianna M. Milewicz, Sumera N. Hasham, Hazim J. Safi, Hariyadarshi Pannu, Jessica Chang, Christina Zaleski, Sanjay Shete, Anthony L. Estrera, Andrea L. Lafont, Philip F. Giampietro, Marcia C. Willing, Van Tran Fadulu, Elizabeth Sparks
Publikováno v:
Circulation. 112:513-520
Background— A genetic predisposition for progressive enlargement of thoracic aortic aneurysms leading to type A dissection (TAAD) is inherited in an autosomal-dominant manner in up to 19% of patients, and a number of chromosomal loci have been iden
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::958493a21bcf43cee61fa9d6c9fe445d
https://doi.org/10.1161/circulationaha.105.537340
https://doi.org/10.1161/circulationaha.105.537340
Autor:
Robert Yu, Sanjay Shete, Min Wang, Charles Minn, Anthony L. Estrera, Ellen S. Regalado, Dianna M. Milewicz, Joshua Coney, Jiumei Cao, Dongchuan Guo, Hazim J. Safi, Van Tran-Fadulu
Background— Thoracic aortic aneurysms leading to acute aortic dissections are the major diseases that affect the thoracic aorta. Approximately 20% of patients with thoracic aortic aneurysms and dissections (TAAD) have a family history of TAAD, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0588578930811e177a9eb1640f392e1
https://europepmc.org/articles/PMC3739448/
https://europepmc.org/articles/PMC3739448/
Autor:
Dianna M. Milewicz, Andrea L. Lafont, Senthil Duraisamy, Xin-Hua Feng, Hazim J. Safi, Hariyadarshi Pannu, John E. Wiktorowicz, Anthony L. Estrera, Yao Yun Liang, John C. Carey, Callie S. Kwartler, Mark C. Hannibal, Filemon K. Tan, Sakiko Inamoto, Van Tran Fadulu, Marcia C. Willing
Aims Transforming growth factor-β (TGF-β) signaling is critical for the differentiation of smooth muscle cells (SMCs) into quiescent cells expressing a full repertoire of contractile proteins. Heterozygous mutations in TGF-β receptor type II ( TGF
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17dc2f2cf30d78048489f9c61c70a44d
https://europepmc.org/articles/PMC2972687/
https://europepmc.org/articles/PMC2972687/
Autor:
Van Tran-Fadulu, Suzanne Smart, Hariyadarshi Pannu, Hossein Golabbakhsh, Sanjay Shete, Ellen S. Regalado, Sarah Medrek, Dianna M. Milewicz, Alan C. Braverman, Dong H. Kim, Dongchuan Guo, Julia H. Chen, Ralph H. Stern
Publikováno v:
American journal of medical genetics. Part A. (9)
A genetic predisposition for thoracic aortic aneurysms and dissections (TAAD) can be inherited in an autosomal dominant manner with decreased penetrance and variable expression. Four genes identified to date for familial TAAD account for approximatel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f276cb3519a9504997a7fd151dd410b
https://pubmed.ncbi.nlm.nih.gov/21815248
https://pubmed.ncbi.nlm.nih.gov/21815248