Skeletal and extraskeletal actions of vitamin D: current evidence and outstanding questions

R Bouillon, C Marcocci, G Carmeliet, D Bikle… - Endocrine …, 2019 - academic.oup.com
The etiology of endemic rickets was discovered a century ago. Vitamin D is the precursor of
25-hydroxyvitamin D and other metabolites, including 1, 25 (OH) 2D, the ligand for the …

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 …

Vitamin D: metabolism, molecular mechanism of action, and pleiotropic effects

S Christakos, P Dhawan, A Verstuyf… - Physiological …, 2016 - journals.physiology.org
1, 25-Dihydroxvitamin D3 [1, 25 (OH) 2D3] is the hormonally active form of vitamin D. The
genomic mechanism of 1, 25 (OH) 2D3 action involves the direct binding of the 1, 25 (OH) …

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 …

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 …

Phosphate homeostasis and its role in bone health

MGMG Penido, US Alon - Pediatric nephrology, 2012 - Springer
Phosphate is one of the most abundant minerals in the body, and its serum levels are
regulated by a complex set of processes occurring in the intestine, skeleton, and kidneys …

Vitamin D and human health: lessons from vitamin D receptor null mice

R Bouillon, G Carmeliet, L Verlinden… - Endocrine …, 2008 - academic.oup.com
The vitamin D endocrine system is essential for calcium and bone homeostasis. The precise
mode of action and the full spectrum of activities of the vitamin D hormone, 1, 25 …

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 …

Bone development and mineral homeostasis in the fetus and neonate: roles of the calciotropic and phosphotropic hormones

CS Kovacs - Physiological reviews, 2014 - journals.physiology.org
Mineral and bone metabolism are regulated differently in utero compared with the adult. The
fetal kidneys, intestines, and skeleton are not dominant sources of mineral supply for the …

Phosphate as a signaling molecule and its sensing mechanism

T Michigami, M Kawai, M Yamazaki… - Physiological …, 2018 - journals.physiology.org
In mammals, phosphate balance is maintained by influx and efflux via the intestines,
kidneys, bone, and soft tissue, which involves multiple sodium/phosphate (Na+/Pi) …