Gain of function p.E138A alteration in Card14 leads to psoriasiform skin inflammation and implicates genetic modifiers in disease severity.
Animals
CARD Signaling Adaptor Proteins
/ genetics
Female
Gain of Function Mutation
Gene Knock-In Techniques
Genes, Modifier
Guanylate Cyclase
/ genetics
Guanylate Kinases
/ physiology
Humans
Inflammation
/ genetics
Membrane Proteins
/ genetics
Mice
Mice, Inbred C3H
Mice, Inbred C57BL
Mice, Inbred CBA
Mice, Knockout
Psoriasis
/ genetics
Severity of Illness Index
Skin Diseases
/ genetics
Transcriptome
CARD14
Epidermal hyperplasia
Mouse model
Psoriasis
Psoriatic arthritis
Journal
Experimental and molecular pathology
ISSN: 1096-0945
Titre abrégé: Exp Mol Pathol
Pays: Netherlands
ID NLM: 0370711
Informations de publication
Date de publication:
10 2019
10 2019
Historique:
received:
07
03
2019
revised:
18
06
2019
accepted:
16
07
2019
pubmed:
20
7
2019
medline:
28
2
2020
entrez:
20
7
2019
Statut:
ppublish
Résumé
Psoriasis (PS) is a common inflammatory and incurable skin disease affecting 2-3% of the human population. Although genome-wide association studies implicate more than 60 loci, the full complement of genetic factors leading to disease is not known. Rare, highly penetrant, gain-of-function, dominantly acting mutations within the human caspase recruitment domain family, member 14 (CARD14) gene lead to the development of PS and psoriatic arthritis (PSA) (a familial p.G117S and de-novo p.E138A alteration). These residues are conserved in mouse and orthologous Knock-In (KI) mutations within Card14 were created. The Card14
Identifiants
pubmed: 31323190
pii: S0014-4800(19)30174-1
doi: 10.1016/j.yexmp.2019.104286
pmc: PMC7318844
mid: NIHMS1596590
pii:
doi:
Substances chimiques
CARD Signaling Adaptor Proteins
0
Membrane Proteins
0
Card14 protein, mouse
EC 2.7.4.8
Guanylate Kinases
EC 2.7.4.8
CARD14 protein, human
EC 4.6.1.-
Guanylate Cyclase
EC 4.6.1.2
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
104286Subventions
Organisme : NCI NIH HHS
ID : P30 CA034196
Pays : United States
Organisme : NIAMS NIH HHS
ID : R01 AR049288
Pays : United States
Organisme : NIAMS NIH HHS
ID : R01 AR050266
Pays : United States
Organisme : NIAMS NIH HHS
ID : R21 AR063781
Pays : United States
Informations de copyright
Copyright © 2019. Published by Elsevier Inc.
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