Dental and craniofacial defects in the Crtap
Animals
Calcification, Physiologic
Craniofacial Abnormalities
/ genetics
Disease Models, Animal
Extracellular Matrix Proteins
/ genetics
Humans
Immunohistochemistry
Mice
Mice, Inbred C57BL
Molecular Chaperones
/ genetics
Mutation
Osteoclasts
/ metabolism
Osteogenesis
Osteogenesis Imperfecta
/ genetics
Periodontal Ligament
/ embryology
Phenotype
Skull
/ pathology
X-Ray Microtomography
bone
craniofacial
dental
micro computed tomography
osteogenesis imperfecta
phenotype
skull
Journal
Developmental dynamics : an official publication of the American Association of Anatomists
ISSN: 1097-0177
Titre abrégé: Dev Dyn
Pays: United States
ID NLM: 9201927
Informations de publication
Date de publication:
07 2020
07 2020
Historique:
received:
20
11
2019
revised:
14
02
2020
accepted:
25
02
2020
pubmed:
7
3
2020
medline:
31
8
2021
entrez:
6
3
2020
Statut:
ppublish
Résumé
Inactivating mutations in the gene for cartilage-associated protein (CRTAP) cause osteogenesis imperfecta type VII in humans, with a phenotype that can include craniofacial defects. Dental and craniofacial manifestations have not been a focus of case reports to date. We analyzed the craniofacial and dental phenotype of Crtap Crtap Crtap
Sections du résumé
BACKGROUND
Inactivating mutations in the gene for cartilage-associated protein (CRTAP) cause osteogenesis imperfecta type VII in humans, with a phenotype that can include craniofacial defects. Dental and craniofacial manifestations have not been a focus of case reports to date. We analyzed the craniofacial and dental phenotype of Crtap
RESULTS
Crtap
CONCLUSIONS
Crtap
Identifiants
pubmed: 32133710
doi: 10.1002/dvdy.166
pmc: PMC7727892
mid: NIHMS1574817
doi:
Substances chimiques
Crtap protein, mouse
0
Extracellular Matrix Proteins
0
Molecular Chaperones
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, N.I.H., Intramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
884-897Subventions
Organisme : NIDCR NIH HHS
ID : DE025827
Pays : United States
Organisme : NIGMS NIH HHS
ID : P20 GM125503
Pays : United States
Organisme : NIAMS NIH HHS
ID : AR069620
Pays : United States
Organisme : NIAMS NIH HHS
ID : AR066110
Pays : United States
Organisme : NIAMS NIH HHS
ID : R00 AR066110
Pays : United States
Organisme : NIAMS NIH HHS
ID : P30 AR069620
Pays : United States
Organisme : NIGMS NIH HHS
ID : GM125503
Pays : United States
Organisme : NIDCR NIH HHS
ID : R01 DE027639
Pays : United States
Organisme : NIDCR NIH HHS
ID : R01 DE025827
Pays : United States
Organisme : NIAMS NIH HHS
ID : R01 AR060823
Pays : United States
Organisme : NIDCR NIH HHS
ID : DE027639
Pays : United States
Organisme : NIAMS NIH HHS
ID : AR060823
Pays : United States
Organisme : NIAMS NIH HHS
ID : Intramural Research Program
Pays : United States
Informations de copyright
© 2020 Wiley Periodicals, Inc.
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