Mechanisms Underlying Rare Inherited Pediatric Retinal Vascular Diseases: FEVR, Norrie Disease, Persistent Fetal Vascular Syndrome.
CTNNA1
CTNND1
ECM1
FEVR
FZD4
KIF11
LRP5
NDP
Norrie disease
TSPAN12
ZNF408
blood-brain-barrier
genetic disease mechanisms
norrin
persistent fetal vascular syndrome
retinal endothelial cell
retinal vasculature
Journal
Cells
ISSN: 2073-4409
Titre abrégé: Cells
Pays: Switzerland
ID NLM: 101600052
Informations de publication
Date de publication:
05 Nov 2023
05 Nov 2023
Historique:
received:
14
09
2023
revised:
28
10
2023
accepted:
30
10
2023
medline:
13
11
2023
pubmed:
10
11
2023
entrez:
10
11
2023
Statut:
epublish
Résumé
Familial Exudative Vitreoretinopathy (FEVR), Norrie disease, and persistent fetal vascular syndrome (PFVS) are extremely rare retinopathies that are clinically distinct but are unified by abnormal retinal endothelial cell function, and subsequent irregular retinal vascular development and/or aberrant inner blood-retinal-barrier (iBRB) function. The early angiogenesis of the retina and its iBRB is a delicate process that is mediated by the canonical Norrin Wnt-signaling pathway in retinal endothelial cells. Pathogenic variants in genes that play key roles within this pathway, such as
Identifiants
pubmed: 37947657
pii: cells12212579
doi: 10.3390/cells12212579
pmc: PMC10647367
pii:
doi:
Substances chimiques
Tetraspanins
0
FZD4 protein, human
0
Frizzled Receptors
0
TSPAN12 protein, human
0
ZNF408 protein, human
0
DNA-Binding Proteins
0
Transcription Factors
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
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