Consensus statement from 2nd International Conference on Controversies in Vitamin D

A Giustina, RA Adler, N Binkley, J Bollerslev… - Reviews in Endocrine …, 2020 - Springer
Abstract The 2 nd International Conference on Controversies in Vitamin D was held in
Monteriggioni (Siena), Italy, September 11-14, 2018. The aim of this meeting was to address …

[HTML][HTML] The osteocyte as the new discovery of therapeutic options in rare bone diseases

JL Pathak, N Bravenboer, J Klein-Nulend - Frontiers in endocrinology, 2020 - frontiersin.org
Osteocytes are the most abundant (~ 95%) cells in bone with the longest half-life (~ 25
years) in humans. In the past osteocytes have been regarded as vestigial cells in bone …

Rickets in children: an update

C Gentile, F Chiarelli - Biomedicines, 2021 - mdpi.com
Rickets refers to a deficient mineralization of the growth plate cartilage, predominantly
affecting longer bones. Despite the fact that preventive measures are available, it is still a …

Vitamin D deficiency exacerbates bleomycin-induced pulmonary fibrosis partially through aggravating TGF-β/Smad2/3-mediated epithelial-mesenchymal transition

SR Li, ZX Tan, YH Chen, B Hu, C Zhang, H Wang… - Respiratory …, 2019 - Springer
Background Our earlier report indicated that active vitamin D3 inhibited epithelial-
mesenchymal transition (EMT) in bleomycin (BLM)-induced pulmonary fibrosis. The …

Endocrinology of bone mineralization: An update

A Jannin, V Kerlan, R Desailloud - Annales d'Endocrinologie, 2022 - Elsevier
Throughout the world, millions of people suffer from fragilizing osteopathies such as
osteomalacia and osteoporosis. Osteomalacia is a rare disorder, corresponding to …

Vitamin D-dependent rickets Type 3: a case report and systematic review

L Mantoanelli, CM de Almeida, MCA Coelho… - Calcified tissue …, 2023 - Springer
Although vitamin D deficiency resulting from insufficient sunlight exposure or inadequate
dietary vitamin D intake is the most common cause of rickets, mutations in genes involved in …

X-linked hypophosphatemia in 4 generations due to an exon 13–15 duplication in PHEX, in the absence of the c.* 231A> G variant

JS Barros, SI Sanchez, K Cabral, AH Beggs… - Bone, 2023 - Elsevier
X-linked hypophosphatemia is the most common cause of inherited rickets, due to
inactivating variants of PHEX. More than 800 variants have been described to date and one …

Genetic diagnosis of rare diseases: past and present

F Ramos-Fuentes, A González-Meneses, E Ars… - Advances in …, 2020 - Springer
Rare diseases are heterogeneous life-threatening or seriously debilitating conditions that
affect< 1 in 2000 individuals, and most have a genetic component. The diagnostic process is …

Relationships between matrix mineralization, oxidative metabolism, and mitochondrial structure during ATDC5 murine chondroprogenitor cell line differentiation

K Blank, D Ekanayake, M Cooke… - Journal of Cellular …, 2024 - Wiley Online Library
The mechanistic relationships between the progression of growth chondrocyte
differentiation, matrix mineralization, oxidative metabolism, and mitochondria content and …

Diagnosis, treatment, and management of rickets: a position statement from the Bone and Mineral Metabolism Group of the Italian Society of Pediatric Endocrinology …

GI Baroncelli, P Comberiati, T Aversa… - Frontiers in …, 2024 - frontiersin.org
Rickets results from impaired mineralization of growing bone due to alterations in calcium
and phosphate homeostasis. Clinical signs of rickets are related to the age of the patient, the …