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Page 1
Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.
Welch CL, Aldred MA, Balachandar S, Dooijes D, Eichstaedt CA, Gräf S, Houweling AC, Machado RD, Pandya D, Prapa M, Shaukat M, Southgate L, Tenorio-Castano J; ClinGen PH VCEP; Chung WK; International Consortium for Genetic Studies in Pulmonary Arterial Hypertension (PAH-ICON) at the Pulmonary Vascular Research Institute (PVRI). Welch CL, et al. Among authors: machado rd. Genet Med. 2023 Nov;25(11):100925. doi: 10.1016/j.gim.2023.100925. Epub 2023 Jul 5. Genet Med. 2023. PMID: 37422716
Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia.
Harrison RE, Flanagan JA, Sankelo M, Abdalla SA, Rowell J, Machado RD, Elliott CG, Robbins IM, Olschewski H, McLaughlin V, Gruenig E, Kermeen F, Halme M, Räisänen-Sokolowski A, Laitinen T, Morrell NW, Trembath RC. Harrison RE, et al. Among authors: machado rd. J Med Genet. 2003 Dec;40(12):865-71. doi: 10.1136/jmg.40.12.865. J Med Genet. 2003. PMID: 14684682 Free PMC article.
Genetics and genomics of pulmonary arterial hypertension.
Soubrier F, Chung WK, Machado R, Grünig E, Aldred M, Geraci M, Loyd JE, Elliott CG, Trembath RC, Newman JH, Humbert M. Soubrier F, et al. J Am Coll Cardiol. 2013 Dec 24;62(25 Suppl):D13-21. doi: 10.1016/j.jacc.2013.10.035. J Am Coll Cardiol. 2013. PMID: 24355637 Free article. Review.
Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH.
Zhu N, Swietlik EM, Welch CL, Pauciulo MW, Hagen JJ, Zhou X, Guo Y, Karten J, Pandya D, Tilly T, Lutz KA, Martin JM, Treacy CM, Rosenzweig EB, Krishnan U, Coleman AW, Gonzaga-Jauregui C, Lawrie A, Trembath RC, Wilkins MR; Regeneron Genetics Center; PAH Biobank Enrolling Centers’ Investigators; NIHR BioResource for Translational Research - Rare Diseases; National Cohort Study of Idiopathic and Heritable PAH; Morrell NW, Shen Y, Gräf S, Nichols WC, Chung WK. Zhu N, et al. Genome Med. 2021 May 10;13(1):80. doi: 10.1186/s13073-021-00891-1. Genome Med. 2021. PMID: 33971972 Free PMC article.
Mining the Plasma Proteome for Insights into the Molecular Pathology of Pulmonary Arterial Hypertension.
Harbaum L, Rhodes CJ, Wharton J, Lawrie A, Karnes JH, Desai AA, Nichols WC, Humbert M, Montani D, Girerd B, Sitbon O, Boehm M, Novoyatleva T, Schermuly RT, Ghofrani HA, Toshner M, Kiely DG, Howard LS, Swietlik EM, Gräf S, Pietzner M, Morrell NW, Wilkins MR; U.K. National Institute for Health Research BioResource Rare Diseases Consortium, U.K. Pulmonary Arterial Hypertension Cohort Study Consortium, and U.S. Pulmonary Arterial Hypertension Biobank Consortium. Harbaum L, et al. Am J Respir Crit Care Med. 2022 Jun 15;205(12):1449-1460. doi: 10.1164/rccm.202109-2106OC. Am J Respir Crit Care Med. 2022. PMID: 35394406 Free PMC article.
Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family.
Thomson JR, Machado RD, Pauciulo MW, Morgan NV, Humbert M, Elliott GC, Ward K, Yacoub M, Mikhail G, Rogers P, Newman J, Wheeler L, Higenbottam T, Gibbs JS, Egan J, Crozier A, Peacock A, Allcock R, Corris P, Loyd JE, Trembath RC, Nichols WC. Thomson JR, et al. Among authors: machado rd. J Med Genet. 2000 Oct;37(10):741-5. doi: 10.1136/jmg.37.10.741. J Med Genet. 2000. PMID: 11015450 Free PMC article.
[Genetics and genomics of pulmonary arterial hypertension].
Soubrier F, Chung WK, Machado R, Grünig E, Aldred M, Geraci M, Loyd JE, Elliott CG, Trembath RC, Newman JH, Humbert M. Soubrier F, et al. Turk Kardiyol Dern Ars. 2014 Oct;42 Suppl 1:17-28. Turk Kardiyol Dern Ars. 2014. PMID: 25697031 Turkish.
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension.
Hadinnapola C, Bleda M, Haimel M, Screaton N, Swift A, Dorfmüller P, Preston SD, Southwood M, Hernandez-Sanchez J, Martin J, Treacy C, Yates K, Bogaard H, Church C, Coghlan G, Condliffe R, Corris PA, Gibbs S, Girerd B, Holden S, Humbert M, Kiely DG, Lawrie A, Machado R, MacKenzie Ross R, Moledina S, Montani D, Newnham M, Peacock A, Pepke-Zaba J, Rayner-Matthews P, Shamardina O, Soubrier F, Southgate L, Suntharalingam J, Toshner M, Trembath R, Vonk Noordegraaf A, Wilkins MR, Wort SJ, Wharton J; NIHR BioResource–Rare Diseases Consortium; UK National Cohort Study of Idiopathic and Heritable PAH; Gräf S, Morrell NW. Hadinnapola C, et al. Circulation. 2017 Nov 21;136(21):2022-2033. doi: 10.1161/CIRCULATIONAHA.117.028351. Epub 2017 Sep 28. Circulation. 2017. PMID: 28972005 Free PMC article.
BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension.
Machado RD, Pauciulo MW, Thomson JR, Lane KB, Morgan NV, Wheeler L, Phillips JA 3rd, Newman J, Williams D, Galiè N, Manes A, McNeil K, Yacoub M, Mikhail G, Rogers P, Corris P, Humbert M, Donnai D, Martensson G, Tranebjaerg L, Loyd JE, Trembath RC, Nichols WC. Machado RD, et al. Am J Hum Genet. 2001 Jan;68(1):92-102. doi: 10.1086/316947. Epub 2000 Dec 12. Am J Hum Genet. 2001. PMID: 11115378 Free PMC article.
163 results