Targeted Disruption of NF1 in Osteocytes Increases FGF23 and Osteoid With Osteomalacia‐like Bone Phenotype

ABSTRACT Neurofibromatosis type 1 (NF1, OMIM 162200), caused by NF1 gene mutations, exhibits multi‐system abnormalities, including skeletal deformities in humans. Osteocytes play critical roles in controlling bone modeling and remodeling. However, the role of neurofibromin, the protein product of th...

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Veröffentlicht in:	Journal of bone and mineral research 2017-08, Vol.32 (8), p.1716-1726
Hauptverfasser:	Kamiya, Nobuhiro, Yamaguchi, Ryosuke, Aruwajoye, Olumide, Kim, Audrey J, Kuroyanagi, Gen, Phipps, Matthew, Adapala, Naga Suresh, Feng, Jian Q, Kim, Harry KW
Format:	Artikel
Sprache:	eng
Schlagworte:	1-Phosphatidylinositol 3-kinase Animals Apposition Bone growth Bone histomorphometry Bone Neoplasms - genetics Bone Neoplasms - metabolism Bone Neoplasms - pathology Bone remodeling Bones Calcium metabolism Computed tomography Dendrites Electron microscopy FGF23 Fibroblast growth factor 23 Fibroblast Growth Factors - genetics Fibroblast Growth Factors - metabolism Fractures Humans Immunohistochemistry Mechanical properties Metabolism Mice Mice, Knockout Mineralization mRNA Neurofibromatosis Neurofibromatosis 1 - genetics Neurofibromatosis 1 - metabolism Neurofibromatosis 1 - pathology NEUROFIBROMIN Neurofibromin 1 Neurofibromin 1 - deficiency NF1 OSTEOCYTE Osteocytes Osteocytes - metabolism Osteocytes - pathology Osteogenesis OSTEOID Osteoma, Osteoid - genetics Osteoma, Osteoid - metabolism Osteoma, Osteoid - pathology Osteomalacia Osteomalacia - genetics Osteomalacia - metabolism Osteomalacia - pathology Parathyroid Parathyroid hormone Phosphorus PI3K Recklinghausen's disease
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