The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
Genetics and genomics of pulmonary arterial hypertension
Open accessAbstract
Since 2000 there have been major advances in our understanding of the genetic and genomics of pulmonary arterial hypertension (PAH), although there remains much to discover. Based on existing knowledge, around 25–30% of patients diagnosed with idiopathic PAH have an underlying Mendelian genetic cause for their condition and should be classified as heritable PAH (HPAH). Here, we summarise the known genetic and genomic drivers of PAH, the insights these provide into pathobiology, and the opportunities afforded for development of novel therapeutic approaches. In addition, factors determining the incomplete penetrance observed in HPAH are discussed. The currently available approaches to genetic testing and counselling, and the impact of a genetic diagnosis on clinical management of the patient with PAH, are presented. Advances in DNA sequencing technology are rapidly expanding our ability to undertake genomic studies at scale in large cohorts. In the future, such studies will provide a more complete picture of the genetic contribution to PAH and, potentially, a molecular classification of this disease.
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Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594
2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension
Galiè, N., Humbert, M., Vachiery, J.-L., Gibbs, S., Lang, I., Torbicki, A., Simonneau, G., Peacock, A., Vonk Noordegraaf, A., Beghetti, M., et al. (2016) · European Heart Journal · doi:10.1093/eurheartj/ehv317 · Cited by 6,931
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension
Gräf, S., Haimel, M., Bleda, M., Hadinnapola, C., Southgate, L., Li, W., Hodgson, J., Liu, B., Salmon, R. M., Southwood, M., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-03672-4 · Cited by 380
Self-citationThe amino acid sensor GCN2 controls gut inflammation by inhibiting inflammasome activation
Ravindran, R., Loebbermann, J., Nakaya, H. I., Khan, N., Ma, H., Gama, L., Machiah, D. K., Lawson, B., Hakimpour, P., Wang, Y.-C., et al. (2016) · Nature · doi:10.1038/nature17186 · Cited by 312
Cited by
Topjian, A. A., Raymond, T. T., Atkins, D., Chan, M., Duff, J. P., Joyner, B. L., Lasa, J. J., Lavonas, E. J., Levy, A., Mahgoub, M., et al. (2020) · Circulation · doi:10.1161/cir.0000000000000901 · Cited by 1,258
Sotatercept for the Treatment of Pulmonary Arterial Hypertension
Humbert, M., McLaughlin, V., Gibbs, J. S. R., Gomberg-Maitland, M., Hoeper, M. M., Preston, I. R., Souza, R., Waxman, A., Escribano Subias, P., Feldman, J., et al. (2021) · New England Journal of Medicine · doi:10.1056/nejmoa2024277 · Cited by 608
Hansmann, G., Koestenberger, M., Alastalo, T.-P., Apitz, C., Austin, E. D., Bonnet, D., Budts, W., D'Alto, M., Gatzoulis, M. A., Hasan, B. S., et al. (2019) · The Journal of Heart and Lung Transplantation · doi:10.1016/j.healun.2019.06.022 · Cited by 444
Self-citationObesity, estrogens and adipose tissue dysfunction - implications for pulmonary arterial hypertension
Mair, K. M., Gaw, R., & MacLean, M. R. (2020) · Pulmonary Circulation · doi:10.1177/2045894020952023 · Cited by 129
ATP13A3 is a major component of the enigmatic mammalian polyamine transport system
Hamouda, N. N., Van den Haute, C., Vanhoutte, R., Sannerud, R., Azfar, M., Mayer, R., Cortés Calabuig, Á., Swinnen, J. V., Agostinis, P., Baekelandt, V., et al. (2021) · Journal of Biological Chemistry · doi:10.1074/jbc.ra120.013908 · Cited by 85
Metadata
- Authors
- Morrell, N. W., Aldred, M. A., Chung, W. K., Elliott, C. G., Nichols, W. C., Soubrier, F., Trembath, R. C., & Loyd, J. E.
- Venue
- European Respiratory Journal
- Publisher
- European Respiratory Society (ERS)
- Published
- 2019-01
- Volume
- 53
- Issue
- 1
- Pages
- 1801899
- ISSN
- 0903-1936 (ISSN-L)
- 1399-3003
- OpenAlex
- W2905257285
- Cited by
- 475
- References
- 4
- FWCI
- 29.25
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Morrell, N. W., Aldred, M. A., Chung, W. K., Elliott, C. G., Nichols, W. C., Soubrier, F., Trembath, R. C., & Loyd, J. E. (2019). Genetics and genomics of pulmonary arterial hypertension. European Respiratory Journal. https://doi.org/10.1183/13993003.01899-2018
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
