Genomic Context and Mechanisms of the
ACVR1
Fibrodysplasia Ossificans Progressiva
cis-regulatory elements
gene expression
genetic modifiers
human genome
Journal
Biomedicines
ISSN: 2227-9059
Titre abrégé: Biomedicines
Pays: Switzerland
ID NLM: 101691304
Informations de publication
Date de publication:
05 Feb 2021
05 Feb 2021
Historique:
received:
09
01
2021
revised:
30
01
2021
accepted:
02
02
2021
entrez:
10
2
2021
pubmed:
11
2
2021
medline:
11
2
2021
Statut:
epublish
Résumé
Basic research in Fibrodysplasia Ossificans Progressiva (FOP) was carried out in the various fields involved in the disease pathophysiology and was important for designing therapeutic approaches, some of which were already developed as ongoing or planned clinical trials. Genetic research was fundamental in identifying the FOP causative mutation, and the astonishing progress in technologies for genomic analysis, coupled to related computational methods, now make possible further research in this field. We present here a review of molecular and cellular factors which could explain why a single mutation, the R206H in the
Identifiants
pubmed: 33562470
pii: biomedicines9020154
doi: 10.3390/biomedicines9020154
pmc: PMC7914827
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
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