Mutations That Affect the Surface Expression of TRPV6 Are Associated with the Upregulation of Serine Proteases in the Placenta of an Infant.
Amino Acid Sequence
Animals
Calcium Channels
/ genetics
Case-Control Studies
Cathepsin G
/ genetics
Female
Gene Expression Regulation, Enzymologic
High-Temperature Requirement A Serine Peptidase 1
/ genetics
Humans
Infant
Mice, Knockout
Mutation
Osteochondrodysplasias
/ etiology
Placenta
/ metabolism
Pregnancy
Proteome
/ analysis
TRPV Cation Channels
/ genetics
TRPV6
calcium transport
placenta
serine proteases
skeletal dysplasia
subunit assembly
transient receptor potential
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
24 Nov 2021
24 Nov 2021
Historique:
received:
05
11
2021
revised:
18
11
2021
accepted:
22
11
2021
entrez:
10
12
2021
pubmed:
11
12
2021
medline:
18
12
2021
Statut:
epublish
Résumé
Recently, we reported a case of an infant with neonatal severe under-mineralizing skeletal dysplasia caused by mutations within both alleles of the
Identifiants
pubmed: 34884497
pii: ijms222312694
doi: 10.3390/ijms222312694
pmc: PMC8657554
pii:
doi:
Substances chimiques
Calcium Channels
0
Proteome
0
TRPV Cation Channels
0
TRPV6 protein, human
0
Trpv6 protein, mouse
0
High-Temperature Requirement A Serine Peptidase 1
EC 3.4.21.-
HTRA1 protein, human
EC 3.4.21.-
CTSG protein, human
EC 3.4.21.20
Cathepsin G
EC 3.4.21.20
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Deutsche Forschungsgemeinschaft
ID : FE629/2 WE4866/1- 1 SFB894/P2
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