Early-onset and severe pulmonary arterial hypertension due to a novel compound heterozygous association of rare
blood cells
genetics
hypoxia inducible factor
pulmonary circulation
Journal
Pulmonary circulation
ISSN: 2045-8932
Titre abrégé: Pulm Circ
Pays: United States
ID NLM: 101557243
Informations de publication
Date de publication:
Apr 2022
Apr 2022
Historique:
received:
03
11
2021
revised:
03
01
2022
accepted:
25
01
2022
entrez:
23
6
2022
pubmed:
24
6
2022
medline:
24
6
2022
Statut:
epublish
Résumé
Very rare cases of pulmonary arterial hypertension (PAH) have been linked to homozygous or compound heterozygous von Hippel-Lindau (
Identifiants
pubmed: 35734542
doi: 10.1002/pul2.12052
pii: PUL212052
pmc: PMC9190294
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e12052Informations de copyright
© 2022 The Authors. Pulmonary Circulation published by John Wiley & Sons Ltd on behalf of Pulmonary Vascular Research Institute.
Déclaration de conflit d'intérêts
Outside the submitted work, Antoine Bondue received consultancy fees from Amicus, Baeyer, Boehringer Ingelheim, Sanofi, Pfizer, and Alnylam; speaker fees from Pfizer, Sanofi, and Alnylam and reports travel grants from Abbott, Pfizer, and Takeda. Jean‐Luc Vachiery received consultant fees from Actelion, Bayer, Bial Portela, PhaseBio, Respira Therapeutics, United Therapeutics, and SoniVie and reports speaker fees and travel grants from Actelion, Acceleron, Bayer, Merck, Novartis, United Therapeutics. Laura Chomette reports travel grants from Sanofi and Pfizer. Remaining authors declare that there are no conflicts of interest.
Références
Haematologica. 2012 Feb;97(2):193-200
pubmed: 21993671
Nat Genet. 2002 Dec;32(4):614-21
pubmed: 12415268
Lancet. 2003 Jun 14;361(9374):2059-67
pubmed: 12814730
Science. 1993 May 28;260(5112):1317-20
pubmed: 8493574
Eur Respir J. 2019 Jan 24;53(1):
pubmed: 30545973
Eur Heart J. 2016 Jan 1;37(1):67-119
pubmed: 26320113
Thorax. 2017 Dec;72(12):1164-1166
pubmed: 28476881
J Clin Invest. 2007 Dec;117(12):3879-89
pubmed: 17992257
J Clin Invest. 2003 Mar;111(6):779-83
pubmed: 12639980
Blood. 2018 Aug 2;132(5):469-483
pubmed: 29891534
Am J Respir Crit Care Med. 2018 Dec 1;198(11):1423-1434
pubmed: 29924941
J Clin Invest. 2020 Nov 2;130(11):5638-5651
pubmed: 32881714
Hum Mutat. 2015 Nov;36(11):1039-42
pubmed: 26224408
Haematologica. 2011 Sep;96(9):1371-4
pubmed: 21606165
Cancer Res. 2014 Nov 15;74(22):6554-64
pubmed: 25371412
Blood. 2011 Mar 31;117(13):3699-701
pubmed: 21454469
PLoS Comput Biol. 2019 Apr 3;15(4):e1006478
pubmed: 30943211
Pediatr Blood Cancer. 2014 Nov;61(11):2104-6
pubmed: 24729484
J Heart Lung Transplant. 2016 Sep;35(9):1138-9
pubmed: 27578599
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
PLoS Med. 2006 Jul;3(7):e290
pubmed: 16768548
J Mol Med (Berl). 2010 May;88(5):523-30
pubmed: 20140661
Blood. 2004 May 15;103(10):3924-32
pubmed: 14726398