Gene Mutation Annotation and Pedigree for Pulmonary Arterial Hypertension Patients in Han Chinese Patients
References
- Galiè N, Humbert M, Vachiery JL, et al. 2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension: The Joint Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS): Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC), International Society for Heart and Lung Transplantation (ISHLT). Eur Heart J. 2016; 37: 67–119. 1 September 2015. DOI: 10.1093/eurheartj/ehv317
- Galiè N, McLaughlin VV, Rubin LJ, et al. An overview of the 6th World Symposium on Pulmonary Hypertension. Eur Respir J. 2019; 53. 16 December 2018. DOI: 10.1183/13993003.02148-2018
- Yin C, Li K, Yu Y, et al. Genome-wide association study identifies loci and candidate genes for non-idiopathic pulmonary hypertension in Eastern Chinese Han population. BMC Pulm Med. 2018; 18: 158–158. DOI: 10.1186/s12890-018-0719-0
- Hoeper MM, Bogaard HJ, Condliffe R, et al. Definitions and diagnosis of pulmonary hypertension. J Am Coll Cardiol. 2013; 62: D42–50. 21 December 2013. DOI: 10.1016/j.jacc.2013.10.032
- Tuder RM, Archer SL, Dorfmüller P, et al. Relevant issues in the pathology and pathobiology of pulmonary hypertension. J Am Coll Cardiol. 2013; 62: D4–12. 21 December 2013. DOI: 10.1016/j.jacc.2013.10.025
- Thomson JR, Machado RD, Pauciulo MW, et al. Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family. J Med Genet. 2000; 37: 741–745. 4 October 2000. DOI: 10.1136/jmg.37.10.741
- Machado RD, Southgate L, Eichstaedt CA, et al. Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects. Hum Mutat. 2015; 36: 1113–1127. 22 September 2015. DOI: 10.1002/humu.22904
- Evans JD, Girerd B, Montani D, et al. BMPR2 mutations and survival in pulmonary arterial hypertension: An individual participant data meta-analysis. Lancet Respir Med. 2016; 4: 129–137. 23 January 2016. DOI: 10.1016/S2213-2600(15)00544-5
- Gräf S, Haimel M, Bleda M, et al. Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. Nat Commun. 2018; 9: 1416. 14 April 2018. DOI: 10.1038/s41467-018-03672-4
- Austin ED, Ma L, LeDuc C, et al. Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension. Circ Cardiovasc Genet. 2012; 5: 336–343. 5 April 2012. DOI: 10.1161/CIRCGENETICS.111.961888
- Morrell NW, Aldred MA, Chung WK, et al. Genetics and genomics of pulmonary arterial hypertension. Eur Respir J. 2019; 53. 14 December 2018. DOI: 10.1183/13993003.01899-2018
- Huang da W, Sherman BT, Lempicki RA. Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources. Nat Protoc. 2009; 4: 44–57. 10 January 2009. DOI: 10.1038/nprot.2008.211
- Huang da W, Sherman BT, Lempicki RA. Bioinformatics enrichment tools: Paths toward the comprehensive functional analysis of large gene lists. Nucleic Acids Res. 2009; 37: 1–13. 27 November 2008. DOI: 10.1093/nar/gkn923
- Landrum MJ, Lee JM, Benson M, et al. ClinVar: Improving access to variant interpretations and supporting evidence. Nucleic Acids Res. 2018; 46: D1062–D1067. 23 November 2017. DOI: 10.1093/nar/gkx1153
- Larkin EK, Newman JH, Austin ED, et al. Longitudinal analysis casts doubt on the presence of genetic anticipation in heritable pulmonary arterial hypertension. Am J Respir Crit Care Med. 2012; 186: 892–896. 28 August 2012. DOI: 10.1164/rccm.201205-0886OC
- Austin ED, Cogan JD, West JD, et al. Alterations in oestrogen metabolism: Implications for higher penetrance of familial pulmonary arterial hypertension in females. European Respiratory Journal. 2009; 34: 1093. DOI: 10.1183/09031936.00010409
- Ge X, Zhu T, Zhang X, et al. Gender differences in pulmonary arterial hypertension patients with BMPR2 mutation: A meta-analysis. Respiratory Research. 2020; 21: 44. DOI: 10.1186/s12931-020-1309-2
- West J, Cogan J, Geraci M, et al. Gene expression in BMPR2 mutation carriers with and without evidence of pulmonary arterial hypertension suggests pathways relevant to disease penetrance. BMC Med Genomics. 2008; 1: 45. 1 October 2008. DOI: 10.1186/1755-8794-1-45
- Mair KM, Yang XD, Long L, et al. Sex affects bone morphogenetic protein type II receptor signaling in pulmonary artery smooth muscle cells. Am J Respir Crit Care Med. 2015; 191: 693–703. 22 January 2015. DOI: 10.1164/rccm.201410-1802OC
- Humbert M, Sitbon O, Chaouat A, et al. Survival in patients with idiopathic, familial, and anorexigen-associated pulmonary arterial hypertension in the modern management era. Circulation. 2010; 122: 156–163. 30 June 2010. DOI: 10.1161/CIRCULATIONAHA.109.911818
- Frost AE, Badesch DB, Barst RJ, et al. The Changing Picture of Patients With Pulmonary Arterial Hypertension in the United States: How REVEAL Differs From Historic and Non-US Contemporary Registries. Chest. 2011; 139: 128–137. DOI: 10.1378/chest.10-0075
- Garcia-Rivas G, Jerjes-Sánchez C, Rodriguez D, et al. A systematic review of genetic mutations in pulmonary arterial hypertension. BMC Med Genet. 2017; 18: 82. 5 August 2017. DOI: 10.1186/s12881-017-0440-5
- David L, Mallet C, Mazerbourg S, et al. Identification of BMP9 and BMP10 as functional activators of the orphan activin receptor-like kinase 1 (ALK1) in endothelial cells. Blood. 2006; 109: 1953–1961. DOI: 10.1182/blood-2006-07-034124
- Yang X, Long L, Southwood M, et al. Dysfunctional Smad signaling contributes to abnormal smooth muscle cell proliferation in familial pulmonary arterial hypertension. Circ Res. 2005; 96: 1053–1063. 23 April 2005. DOI: 10.1161/01.RES.0000166926.54293.68
- Upton PD, Davies RJ, Trembath RC, et al. Bone morphogenetic protein (BMP) and activin type II receptors balance BMP9 signals mediated by activin receptor-like kinase-1 in human pulmonary artery endothelial cells. J Biol Chem. 2009; 284: 15794–15804. 16 April 2009. DOI: 10.1074/jbc.M109.002881
- Bonor J, Adams EL, Bragdon B, et al. Initiation of BMP2 signaling in domains on the plasma membrane. J Cell Physiol. 2012; 227: 2880–2888. DOI: 10.1002/jcp.23032
- Wertz JW, Bauer PM. Caveolin-1 regulates BMPRII localization and signaling in vascular smooth muscle cells. Biochem Biophys Res Commun. 2008; 375: 557–561. 30 August 2008. DOI: 10.1016/j.bbrc.2008.08.066
- Ma L, Roman-Campos D, Austin ED, et al. A Novel Channelopathy in Pulmonary Arterial Hypertension. New England Journal of Medicine. 2013; 369: 351–361. DOI: 10.1056/NEJMoa1211097
- Aldred MA, Comhair SA, Varella-Garcia M, et al. Somatic chromosome abnormalities in the lungs of patients with pulmonary arterial hypertension. Am J Respir Crit Care Med. 2010; 182: 1153–1160. 29 June 2010. DOI: 10.1164/rccm.201003-0491OC
- Star GP, Giovinazzo M, Langleben D. ALK2 and BMPR2 knockdown and endothelin-1 production by pulmonary microvascular endothelial cells. Microvasc Res. 2013; 85: 46–53. 13 November 2012. DOI: 10.1016/j.mvr.2012.10.012
- Vorselaars VMM, Hosman AE, Westermann CJJ, et al. Pulmonary Arterial Hypertension and Hereditary Haemorrhagic Telangiectasia. Int J Mol Sci. 2018; 19. 20 October 2018. DOI: 10.3390/ijms19103203
- Li C, Hampson IN, Hampson L, et al. CD105 antagonizes the inhibitory signaling of transforming growth factor beta1 on human vascular endothelial cells. Faseb j. 2000; 14: 55–64. 8 January 2000. DOI: 10.1096/fasebj.14.1.55
- van der Bruggen CE, Happé CM, Dorfmüller P, et al. Bone Morphogenetic Protein Receptor Type 2 Mutation in Pulmonary Arterial Hypertension: A View on the Right Ventricle. Circulation. 2016; 133: 1747–1760. 18 February 2016. DOI: 10.1161/CIRCULATIONAHA.115.020696
- Medrek SK, Sahay S. Ethnicity in Pulmonary Arterial Hypertension: Possibilities for Novel Phenotypes in the Age of Personalized Medicine. Chest. 2018; 153: 310–320. DOI: 10.1016/j.chest.2017.08.1159
- Jing Z-C, Xu X-Q, Han Z-Y, et al. Registry and Survival Study in Chinese Patients With Idiopathic and Familial Pulmonary Arterial Hypertension. Chest. 2007; 132: 373–379. DOI: 10.1378/chest.06-2913
- Chiou KR, Charng MJ. Genetic diagnosis of familial hypercholesterolemia in Han Chinese. J Clin Lipidol. 2016; 10: 490–496. 22 May 2016. DOI: 10.1016/j.jacl.2016.01.009
DOI: https://doi.org/10.5334/gh.1002 | Journal eISSN: 2211-8179
Language: English
Submitted on: Feb 3, 2021
Accepted on: Sep 28, 2021
Published on: Oct 18, 2021
Published by: Ubiquity Press
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year
Keywords:
© 2021 Mei-Tzu Wang, Ming-Ji Charng, Pei-Ling Chi, Chin-Chang Cheng, Cheng Chung Hung, Wei-Chun Huang, published by Ubiquity Press
This work is licensed under the Creative Commons Attribution 4.0 License.