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Review
. 2020 Apr 30;2020(1):e202013.
doi: 10.21542/gcsp.2020.13.

The role of genomics and genetics in pulmonary arterial hypertension

Emilia M Swietlik  1   2   3 , Stefan Gräf  1   4   5 , Nicholas W Morrell  1   2   3   5
Affiliations
Review

The role of genomics and genetics in pulmonary arterial hypertension

Emilia M Swietlik et al. Glob Cardiol Sci Pract. .
No abstract available

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Figures

Figure 1.
Figure 1.. Common data processing and analysis pipeline for sequencing-based association studies.
Abbreviations: QC, Quality Control; MAF, Minor Allele Frequency; HPO, Human Phenotype Ontology; CADD, Combined Annotation Dependent Depletion; LOINC, Logical Observation Identifiers, Names, and Codes; OMIM, Online Mendelian Inheritance in Man; SNOMED-CT, Systemized Nomenclature of Medicine—Clinical Terms; ORPHAcode, rare disease nomenclature maintained by Orphanet.
Figure 2.
Figure 2.. Druggable molecular pathways involved in the pathogenesis of PAH.
Abbreviations: HPAH, heritable pulmonary arterial hypertension; BMP, bone morphogenetic protein, BMPR2, bone morphogenetic protein receptor type 2; ACVRL1 (also known as ALK1), activin receptor like 1; ENG, endoglin; CAV1, caveolin 1; KCNK3, Potassium Two Pore Domain Channel Subfamily K Member 3; ABCC8, ATP binding cassette subfamily C member 8; SOX17, SRY-Box Transcription Factor 17; TBX4, T-Box Transcription Factor 4; PVOD, pulmonary veno-occlusive disease; PCH, pulmonary capillary haemangiomatosis; ACVRL1, activin receptor- like 1; ATP13A3, cation-transporting ATPase13A3; BRE, BMP-responsive element; GCN2, general control nonderepressible 2; EIF2AK4, Eukaryotic Translation Initiation Factor 2 Alpha Kinase 4; FKBP12, 12kDa FK506-binding protein.
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References

    1. Newman JH. Pulmonary hypertension. Am J Respir Crit Care Med. 2005;172(9):1072–7. - PMC - PubMed
    1. Thomson JR. Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family [Internet] Journal of Medical Genetics. 2000;37:741–5. doi: 10.1136/jmg.37.10.741. - DOI - PMC - PubMed
    1. Evans JDW, Girerd B, Montani D, Wang X-J, Galiè N, Austin ED, et al. BMPR2 mutations and survival in pulmonary arterial hypertension: an individual participant data meta-analysis. Lancet Respir Med. 2016;4(2):129–37. - PMC - PubMed
    1. Lane KB, Machado RD, Pauciulo MW, Thomson JR, Phillips JA, Loyd JE, et al. Heterozygous germline mutations in BMPR2, encoding a TGF-β receptor, cause familial primary pulmonary hypertension [Internet] Nature Genetics. 2000;26:81–4. doi: 10.1038/79226. - DOI - PubMed
    1. Machado RD, Southgate L, Eichstaedt CA, Aldred MA, Austin ED, Best DH, et al. Pulmonary arterial hypertension: A current perspective on established and emerging molecular genetic defects. Hum Mutat. 2015;36(12):1113–27. - PMC - PubMed

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