Collagen XII mediated cellular and extracellular mechanisms in development, regeneration, and disease.
cell-cell communication
collagen XII
development
myopathic EDS
regeneration
Journal
Frontiers in cell and developmental biology
ISSN: 2296-634X
Titre abrégé: Front Cell Dev Biol
Pays: Switzerland
ID NLM: 101630250
Informations de publication
Date de publication:
2023
2023
Historique:
received:
23
12
2022
accepted:
20
02
2023
entrez:
20
3
2023
pubmed:
21
3
2023
medline:
21
3
2023
Statut:
epublish
Résumé
Collagen XII, a fibril-associated collagen with interrupted triple helices (FACIT), influences fibrillogenesis in numerous tissues. In addition to this extracellular function, collagen XII also directly regulates cellular function. Collagen XII is widely expressed in connective tissues, particularly tendons, ligaments, and the periodontium and periosteum, where it is enriched in the pericellular regions. Mutations in the collagen XII gene cause myopathic Ehlers-Danlos syndrome (mEDS), an early-onset disease characterized by overlapping connective tissue abnormalities and muscle weakness. Patients with mEDS exhibit delayed motor development, muscle weakness, joint laxity, hypermobility, joint contractures, and abnormal wound healing. A mEDS mouse model was generated by deletion of the
Identifiants
pubmed: 36936682
doi: 10.3389/fcell.2023.1129000
pii: 1129000
pmc: PMC10017729
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
1129000Informations de copyright
Copyright © 2023 Izu and Birk.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Références
J Cell Biol. 1984 Dec;99(6):2024-33
pubmed: 6542105
Hum Mol Genet. 2014 May 1;23(9):2339-52
pubmed: 24334604
Invest Ophthalmol Vis Sci. 2013 May 07;54(5):3297-308
pubmed: 23599329
Neural Dev. 2011 Jan 04;6:1
pubmed: 21205291
Arch Dermatol Res. 2013 Sep;305(7):645-52
pubmed: 23836353
Gene. 2021 Feb 5;768:145266
pubmed: 33129849
Eur J Biochem. 1998 Oct 15;257(2):362-71
pubmed: 9826181
J Cell Biol. 1991 May;113(4):971-8
pubmed: 2026656
Invest Ophthalmol Vis Sci. 2020 May 11;61(5):61
pubmed: 32462201
Cell Tissue Res. 2016 Jun;364(3):623-635
pubmed: 26753503
Exp Cell Res. 1999 Mar 15;247(2):320-8
pubmed: 10066359
J Bone Miner Res. 1999 Aug;14(8):1338-44
pubmed: 10457266
Matrix Biol. 1996 Nov;15(5):341-8
pubmed: 8981330
Ann Clin Transl Neurol. 2019 Oct;6(10):1980-1988
pubmed: 31509352
Biochim Biophys Acta. 1992 Nov 15;1171(1):97-8
pubmed: 1420368
Matrix Biol. 2018 Jan;65:59-74
pubmed: 28797711
Hum Mol Genet. 2014 May 1;23(9):2353-63
pubmed: 24334769
Wound Repair Regen. 2016 Jan-Feb;24(1):75-88
pubmed: 26606280
Neurochem Res. 2003 Apr;28(3-4):523-35
pubmed: 12675141
Int J Biochem Cell Biol. 2014 Aug;53:51-4
pubmed: 24801612
Genet Med. 2020 Jan;22(1):112-123
pubmed: 31273343
J Dent Res. 2000 Dec;79(12):1962-8
pubmed: 11201046
J Clin Med. 2021 Sep 07;10(18):
pubmed: 34575162
Am J Med Genet A. 2022 May;188(5):1556-1561
pubmed: 35019233
J Mol Biol. 2000 Jan 28;295(4):891-902
pubmed: 10656798
PLoS One. 2016 Oct 26;11(10):e0165497
pubmed: 27783651
Nat Commun. 2017 Jul 25;8(1):126
pubmed: 28743881
Matrix Biol. 2009 Jan;28(1):32-43
pubmed: 18983916
Matrix Biol. 2021 Jan;95:52-67
pubmed: 33096204
J Biol Chem. 2012 Jun 29;287(27):22549-59
pubmed: 22573329
Eur J Biochem. 1992 Aug 1;207(3):847-56
pubmed: 1323460
Matrix Biol. 2020 Dec;94:57-76
pubmed: 32890632
J Biol Chem. 1999 Jul 30;274(31):22053-9
pubmed: 10419532
Am J Pathol. 2022 Feb;192(2):308-319
pubmed: 34774848
J Cell Biol. 1995 Aug;130(4):1005-14
pubmed: 7642694
J Cell Sci. 2005 Apr 1;118(Pt 7):1341-53
pubmed: 15788652
J Musculoskelet Neuronal Interact. 2005 Mar;5(1):5-21
pubmed: 15788867
J Cell Biol. 2011 Jun 13;193(6):1115-30
pubmed: 21670218
J Dent Res. 1995 Jan;74(1):313-8
pubmed: 7876423
J Biol Chem. 1989 Aug 5;264(22):13150-6
pubmed: 2753905
Matrix Biol Plus. 2022 Oct 07;16:100123
pubmed: 36311462
Dev Dyn. 1995 Dec;204(4):432-45
pubmed: 8601036
Semin Cell Dev Biol. 2019 May;89:100-108
pubmed: 30312775
Nature. 2012 Sep 27;489(7417):561-5
pubmed: 23018966
J Anat. 2003 May;202(5):411-20
pubmed: 12739618
Muscle Nerve. 2017 Feb;55(2):277-281
pubmed: 27348394
J Biol Chem. 2006 Sep 15;281(37):27461-70
pubmed: 16861231
J Anat. 1994 Jun;184 ( Pt 3):457-63
pubmed: 7928635
Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26
pubmed: 28306229
Muscle Nerve. 2018 Jun;57(6):1026-1030
pubmed: 29342313
Cell Struct Funct. 2008;33(2):203-10
pubmed: 18957791
Sci Rep. 2020 Jul 14;10(1):11551
pubmed: 32665622