PMC Articles for MedGen (Select 318651) - PMC

Select item 102065091.

Brittany M. Scarpato, Jamie McDonald, Pinar Bayrak-Toydemir, C. Gregory Elliott, Barbara C. Cahill, Lyska L. Emerson, Lynn M. Keenan

Chest. 2023 May; 163(5): e201–e205. Published online 2023 May 8. doi: 10.1016/j.chest.2023.01.020

PMCID:: PMC10206509

Abstract Article PDF–2.5M

Select item 100927532.

A rare homozygous missense GDF2 (BMP9) mutation causing PAH in siblings: Does BMP10 status contribute?

Paul Upton, Susan Richards, Angela Bates, Karen Y. Niederhoffer, Nicholas W. Morrell, Susan Christian

Am J Med Genet A. 2023 Jan; 191(1): 228–233. Published online 2022 Oct 19. doi: 10.1002/ajmg.a.62996

PMCID:: PMC10092753

Abstract Article PDF–1.5M

Select item 89055273.

Connective Tissue Disorders and Cardiovascular Complications: The Indomitable Role of Transforming Growth Factor-Beta Signaling

Jason B. Wheeler, John S. Ikonomidis, Jeffrey A. Jones

Adv Exp Med Biol. Author manuscript; available in PMC 2022 Mar 9.

Published in final edited form as: Adv Exp Med Biol. 2021; 1348: 161–184. doi: 10.1007/978-3-030-80614-9_7

PMCID:: PMC8905527

Abstract Article PDF–826K

Select item 88896864.

Pulmonary arterial hypertension in hereditary hemorrhagic telangiectasia associated with ACVRL1 mutation: a case report

L. J. Walsh, C. Collins, H. Ibrahim, D. M. Kerins, A. P. Brady, T. M. O Connor

J Med Case Rep. 2022; 16: 99. Published online 2022 Mar 1. doi: 10.1186/s13256-022-03296-9

PMCID:: PMC8889686

Abstract Article PDF–1.1M

Select item 86247265.

Expanding the Evidence of a Semi-Dominant Inheritance in GDF2 Associated with Pulmonary Arterial Hypertension

Natalia Gallego, Alejandro Cruz-Utrilla, Inmaculada Guillén, Amparo Moya Bonora, Nuria Ochoa, Pedro Arias, Pablo Lapunzina, Pilar Escribano-Subias, Julián Nevado, Jair Tenorio-Castaño

Cells. 2021 Nov; 10(11): 3178. Published online 2021 Nov 15. doi: 10.3390/cells10113178

PMCID:: PMC8624726

Abstract Article PDF–1.5M

Select item 60501306.

Epigenetic dysregulation of the Drp1 binding partners MiD49 and MiD51 increases mitotic mitochondrial fission and promotes pulmonary arterial hypertension: mechanistic and therapeutic implications

Kuang-Hueih Chen, Asish Dasgupta, Jianhui Lin, Francois Potus, Sebastien Bonnet, James Iremonger, Jennifer Fu, Jeffrey Mewburn, Danchen Wu, Kimberly Dunham-Snary, Anne L. Theilmann, Zhi-Cheng Jing, Charles Hindmarch, Mark L. Ormiston, Allan Lawrie, Stephen L. Archer

Circulation. Author manuscript; available in PMC 2019 Jul 17.

Published in final edited form as: Circulation. 2018 Jul 17; 138(3): 287–304. Published online 2018 Feb 5. doi: 10.1161/CIRCULATIONAHA.117.031258

PMCID:: PMC6050130

Abstract Article PDF–3.1M

Select item 47226837.

Novel homozygous BMP9 nonsense mutation causes pulmonary arterial hypertension: a case report

Guoliang Wang, Rui Fan, Ruirui Ji, Wenxin Zou, Daniel J. Penny, Nidhy P. Varghese, Yuxin Fan

BMC Pulm Med. 2016; 16: 17. Published online 2016 Jan 22. doi: 10.1186/s12890-016-0183-7

PMCID:: PMC4722683

Abstract Article PDF–669K

Select item 37405148.

Genetics and Mediators in Pulmonary Arterial Hypertension

Eric D. Austin, James E. Loyd

Clin Chest Med. Author manuscript; available in PMC 2013 Aug 12.

Published in final edited form as: Clin Chest Med. 2007 Mar; 28(1): 43–viii. doi: 10.1016/j.ccm.2006.11.007

PMCID:: PMC3740514

Article PDF–557K

Select item 37255509.

Genetics and Genomics of Pulmonary Arterial Hypertension

Rajiv D. Machado, Oliver Eickelberg, Greg Elliott, Mark W. Geraci, Masayuki Hanaoka, James E. Loyd, John H. Newman, John A. Phillips, III, Florent Soubrier, Richard C. Trembath, Wendy K. Chung

J Am Coll Cardiol. Author manuscript; available in PMC 2013 Jul 29.

Published in final edited form as: J Am Coll Cardiol. 2009 Jun 30; 54(1 0): S32–S42. doi: 10.1016/j.jacc.2009.04.015

PMCID:: PMC3725550

Abstract Article PDF–551K

Select item 336748110.

The Intersection of Genes and Environment: Development of Pulmonary Arterial Hypertension in a Patient With Hereditary Hemorrhagic Telangiectasia and Stimulant Exposure

Estela Ayala, Kristina T. Kudelko, Francois Haddad, Roham T. Zamanian, Vinicio de Jesus Perez

Chest. 2012 Jun; 141(6): 1598–1600. doi: 10.1378/chest.11-1402

PMCID:: PMC3367481

Abstract Article PDF–627K

Select item 174699411.

Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension

A Chaouat, F Coulet, C Favre, G Simonneau, E Weitzenblum, F Soubrier, M Humbert

Thorax. 2004 May; 59(5): 446–448. doi: 10.1136/thx.2003.11890

PMCID:: PMC1746994

Summary PDF–418K

Select item 173534212.

Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia

R Harrison, J Flanagan, M Sankelo, S Abdalla, J Rowell, R Machado, C Elliott, I Robbins, H Olschewski, V McLaughlin, E Gruenig, F Kermeen, T Laitinen, N Morrell, R Trembath

J Med Genet. 2003 Dec; 40(12): 865–871. doi: 10.1136/jmg.40.12.865

Correction in:: J Med Genet. 2004 Jul; 41(7): 576.

PMCID:: PMC1735342

Summary PDF–532K

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