The osteocyte as a signaling cell

J Delgado-Calle, T Bellido - Physiological reviews, 2022 - journals.physiology.org
Osteocytes, former osteoblasts encapsulated by mineralized bone matrix, are far from being
passive and metabolically inactive bone cells. Instead, osteocytes are multifunctional and …

Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia

D Haffner, F Emma, L Seefried, W Högler… - Nature Reviews …, 2025 - nature.com
X-linked hypophosphataemia (XLH) is a rare metabolic bone disorder caused by pathogenic
variants in the PHEX gene, which is predominantly expressed in osteoblasts, osteocytes and …

Interdisciplinary management of FGF23-related phosphate wasting syndromes: a consensus statement on the evaluation, diagnosis and care of patients with X-linked …

A Trombetti, N Al-Daghri, ML Brandi… - Nature Reviews …, 2022 - nature.com
X-linked hypophosphataemia (XLH) is the most frequent cause of hypophosphataemia-
associated rickets of genetic origin and is associated with high levels of the phosphaturic …

Burosumab therapy in children with X-linked hypophosphatemia

TO Carpenter, MP Whyte, EA Imel… - … England Journal of …, 2018 - Mass Medical Soc
Background X-linked hypophosphatemia is characterized by increased secretion of
fibroblast growth factor 23 (FGF-23), which leads to hypophosphatemia and consequently …

A randomized, double‐blind, placebo‐controlled, phase 3 trial evaluating the efficacy of burosumab, an anti‐FGF23 antibody, in adults with X‐linked …

KL Insogna, K Briot, EA Imel… - Journal of Bone and …, 2018 - academic.oup.com
In X‐linked hypophosphatemia (XLH), inherited loss‐of‐function mutations in the PHEX
gene cause excess circulating levels of fibroblast growth factor 23 (FGF23), leading to …

FGF23 and its role in X-linked hypophosphatemia-related morbidity

SS Beck-Nielsen, Z Mughal, D Haffner… - Orphanet Journal of …, 2019 - Springer
Background X-linked hypophosphatemia (XLH) is an inherited disease of phosphate
metabolism in which inactivating mutations of the Phosphate Regulating Endopeptidase …

Therapeutic potential of the endocrine fibroblast growth factors FGF19, FGF21 and FGF23

C Degirolamo, C Sabbà, A Moschetta - Nature reviews Drug discovery, 2016 - nature.com
The endocrine fibroblast growth factors (FGFs), FGF19, FGF21 and FGF23, are critical for
maintaining whole-body homeostasis, with roles in bile acid, glucose and lipid metabolism …

Tumour-induced osteomalacia

S Minisola, M Peacock, S Fukumoto… - Nature reviews Disease …, 2017 - nature.com
Abstract Tumour-induced osteomalacia (TIO), also known as oncogenic osteomalacia, is a
rare paraneoplastic disorder caused by tumours that secrete fibroblast growth factor 23 …

Rickets

TO Carpenter, NJ Shaw, AA Portale, LM Ward… - Nature Reviews …, 2017 - nature.com
Rickets is a bone disease associated with abnormal serum calcium and phosphate levels.
The clinical presentation is heterogeneous and depends on the age of onset and …

Therapeutic management of hypophosphatemic rickets from infancy to adulthood

A Linglart, M Biosse-Duplan, K Briot… - Endocrine …, 2014 - ec.bioscientifica.com
In children, hypophosphatemic rickets (HR) is revealed by delayed walking, waddling gait,
leg bowing, enlarged cartilages, bone pain, craniostenosis, spontaneous dental abscesses …