2023
DOI: 10.1111/exd.14761
|View full text |Cite
|
Sign up to set email alerts
|

KRT5 mutation regulate melanin metabolism through notch signalling pathway between keratinocytes and melanocytes

Abstract: Dowling-Degos disease (DDD) is an autosomal dominant hereditary skin disease classically characterized by acquired reticular hyperpigmentation in flexural sites. 1 Four pathogenic genes have been identified in DDD-namely, keratin 5 (KRT5), 2 protein O-fucosyltransferase 1 (POFUT1), 3 protein O-glucosyltransferase 1 (POGLUT1) 4 and gamma-secretase subunit presenilin enhancer (PSENEN). 5 Mutations in KRT5 lead to the DDD phenotype, and it is expressed only in keratinocytes. 6 KRT5 belongs to the type II intermed… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
1
1

Citation Types

0
2
0

Year Published

2023
2023
2024
2024

Publication Types

Select...
3

Relationship

0
3

Authors

Journals

citations
Cited by 3 publications
(2 citation statements)
references
References 52 publications
0
2
0
Order By: Relevance
“… 79 In recent years, this pathway is demonstrated in a number of clinical observations and basic studies to exert an important effect on metabolism, vascular physiology, bile duct differentiation, and LR. 80 , 81 , 82 , 83 , 84 , 85 Moreover, great attention has been paid to LR. Notch pathway represents an earliest pathway that is activated within 15–30 min after PHx.…”
Section: Signaling Pathways In Lrmentioning
confidence: 99%
“… 79 In recent years, this pathway is demonstrated in a number of clinical observations and basic studies to exert an important effect on metabolism, vascular physiology, bile duct differentiation, and LR. 80 , 81 , 82 , 83 , 84 , 85 Moreover, great attention has been paid to LR. Notch pathway represents an earliest pathway that is activated within 15–30 min after PHx.…”
Section: Signaling Pathways In Lrmentioning
confidence: 99%
“…[ 12 ] KRT5 is a gene located on chromosome 12, and the protein encoded by this gene is a member of the keratin gene family. [ 13 ] Mutations or abnormalities in the KRT5 gene can lead to various skin disorders, as keratins are crucial for maintaining the structural integrity of epithelial tissues.…”
Section: Introductionmentioning
confidence: 99%