Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling.
Animals
Base Sequence
Bone Morphogenetic Proteins
/ metabolism
Bone and Bones
/ pathology
Cell Differentiation
Cell Nucleus
/ metabolism
Child
Child, Preschool
Female
Humans
Male
Membrane Proteins
/ genetics
Mice, Mutant Strains
Mutation
/ genetics
Osteoblasts
/ pathology
Pedigree
Phosphorylation
Sclerosis
/ pathology
Signal Transduction
Skull
/ pathology
Smad Proteins
/ metabolism
Young Adult
Journal
Nature communications
ISSN: 2041-1723
Titre abrégé: Nat Commun
Pays: England
ID NLM: 101528555
Informations de publication
Date de publication:
06 04 2021
06 04 2021
Historique:
received:
01
10
2020
accepted:
02
03
2021
entrez:
7
4
2021
pubmed:
8
4
2021
medline:
15
4
2021
Statut:
epublish
Résumé
Bone formation represents a heritable trait regulated by many signals and complex mechanisms. Its abnormalities manifest themselves in various diseases, including sclerosing bone disorder (SBD). Exploration of genes that cause SBD has significantly improved our understanding of the mechanisms that regulate bone formation. Here, we discover a previously unknown type of SBD in four independent families caused by bi-allelic loss-of-function pathogenic variants in TMEM53, which encodes a nuclear envelope transmembrane protein. Tmem53
Identifiants
pubmed: 33824347
doi: 10.1038/s41467-021-22340-8
pii: 10.1038/s41467-021-22340-8
pmc: PMC8024261
doi:
Substances chimiques
Bone Morphogenetic Proteins
0
Membrane Proteins
0
Smad Proteins
0
TMEM53 protein, human
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
2046Références
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