'There and Back Again'-Forward Genetics and Reverse Phenotyping in Pulmonary Arterial Hypertension.
epigenetic inheritance
forward genetics
forward phenotyping
genetic heterogeneity
intermediate phenotypes
phenotypic heterogeneity
pulmonary arterial hypertension
reverse genetics
reverse phenotyping
whole-genome sequencing
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
26 11 2020
26 11 2020
Historique:
received:
26
10
2020
revised:
17
11
2020
accepted:
23
11
2020
entrez:
1
12
2020
pubmed:
2
12
2020
medline:
28
7
2021
Statut:
epublish
Résumé
Although the invention of right heart catheterisation in the 1950s enabled accurate clinical diagnosis of pulmonary arterial hypertension (PAH), it was not until 2000 when the landmark discovery of the causative role of bone morphogenetic protein receptor type II (
Identifiants
pubmed: 33256119
pii: genes11121408
doi: 10.3390/genes11121408
pmc: PMC7760524
pii:
doi:
Substances chimiques
Bone Morphogenetic Protein Receptors, Type II
EC 2.7.11.30
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Medical Research Council
ID : MR/K020919/1
Pays : United Kingdom
Organisme : British Heart Foundation
ID : SP/12/12/29836
Pays : United Kingdom
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