Fibrous Dysplasia of Bone and McCune-Albright Syndrome: A Bench to Bedside Review.
Animals
Bone and Bones
/ pathology
Cafe-au-Lait Spots
Cartilage Diseases
Cell Transformation, Neoplastic
Chromogranins
/ genetics
Disease Progression
Fibroblast Growth Factor-23
Fibrous Dysplasia of Bone
Fibrous Dysplasia, Polyostotic
/ diagnosis
GTP-Binding Protein alpha Subunits, Gs
/ genetics
Genetic Predisposition to Disease
Humans
Interleukin-6
/ genetics
Mutation
Signal Transduction
Skin Diseases
/ complications
Translational Research, Biomedical
Bone disorders
Bone metabolism
FGF23-mediated hypophosphatemia
McCune–Albright syndrome
Journal
Calcified tissue international
ISSN: 1432-0827
Titre abrégé: Calcif Tissue Int
Pays: United States
ID NLM: 7905481
Informations de publication
Date de publication:
05 2019
05 2019
Historique:
received:
08
02
2019
accepted:
10
04
2019
pubmed:
1
5
2019
medline:
4
9
2020
entrez:
1
5
2019
Statut:
ppublish
Résumé
Fibrous dysplasia is an uncommon mosaic disorder in which bone is replaced by structurally unsound fibro-osseous tissue. It is caused by the sporadic post-zygotic activating mutations in GNAS, resulting in dysregulated Gα
Identifiants
pubmed: 31037426
doi: 10.1007/s00223-019-00550-z
pii: 10.1007/s00223-019-00550-z
pmc: PMC6541017
mid: NIHMS1528157
doi:
Substances chimiques
Chromogranins
0
FGF23 protein, human
0
IL6 protein, human
0
Interleukin-6
0
Fibroblast Growth Factor-23
7Q7P4S7RRE
GNAS protein, human
EC 3.6.1.-
GTP-Binding Protein alpha Subunits, Gs
EC 3.6.5.1
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
517-529Subventions
Organisme : Intramural NIH HHS
ID : Z99 DE999999
Pays : United States
Organisme : Intramural NIH HHS
ID : Z01 DE000649
Pays : United States
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