@article{25fe45020cb64063ab3cf12a7bf01e1c,
title = "Skeletal and extraskeletal disorders of biomineralization",
abstract = "The physiological process of biomineralization is complex and deviation from it leads to a variety of diseases. Progress in the past 10 years has enhanced understanding of the genetic, molecular and cellular pathophysiology underlying these disorders; sometimes, this knowledge has both facilitated restoration of health and clarified the very nature of biomineralization as it occurs in humans. In this Review, we consider the principal regulators of mineralization and crystallization, and how dysregulation of these processes can lead to human disease. The knowledge acquired to date and gaps still to be filled are highlighted. The disorders of mineralization discussed comprise a broad spectrum of conditions that encompass bone disorders associated with alterations of mineral quantity and quality, as well as disorders of extraskeletal mineralization (hyperphosphataemic familial tumoural calcinosis). Included are disorders of alkaline phosphatase (hypophosphatasia) and phosphate homeostasis (X-linked hypophosphataemic rickets, fluorosis, rickets and osteomalacia). Furthermore, crystallopathies are covered as well as arterial and renal calcification. This Review discusses the current knowledge of biomineralization derived from basic and clinical research and points to future studies that will lead to new therapeutic approaches for biomineralization disorders.",
author = "Collins, {Michael T.} and Gemma Marcucci and Anders, {Hans Joachim} and Giovanni Beltrami and Cauley, {Jane A.} and Ebeling, {Peter R.} and Rajiv Kumar and Agn{\`e}s Linglart and Luca Sangiorgi and Towler, {Dwight A.} and Ria Weston and Whyte, {Michael P.} and Brandi, {Maria Luisa} and Bart Clarke and Thakker, {Rajesh V.}",
note = "Funding Information: The Menarini Foundation (Fondazione Internazionale Menarini) supported the conference in Florence, Italy, on Biomineralization in Health and Disease, which served as impetus and inspiration for this article. H.J.A. acknowledges the support of the Deutsche Forschungsgemeinschaft (AN372/16-2, 20-2, 30-1). M.T.C. acknowledges the support of the Division of Intramural Research of the National Institute of Dental and Craniofacial Research, NIH. R.K. acknowledges the support of NIH grants R01 DK 107870 and DK125252, grants from the Fred C. and Katherine B. Andersen Foundation, the Ruth and Vernon Taylor Professorship, and a Distinguished Investigator Award from the Mayo Clinic. A.L. acknowledges the support of the Universit{\'e} de Paris Saclay and Assistance Publique H{\^o}pitaux de Paris, France. D.A.T. acknowledges the support of NIH Grants HL114806 and HL069229, the American Diabetes Association grant #1-18-IBS-224, the J.D. and Maggie E. Wilson Distinguished Chair in Biomedical Research, and the Louis V. Avioli Professorship in Mineral Metabolism Research. R.V.T. acknowledges the support of a Wellcome Trust Investigator Award, National Institute for Health Research (NIHR) Senior Investigator Award, and the NIHR Oxford Biomedical Research Centre Programme. Publisher Copyright: {\textcopyright} 2022, This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply.",
year = "2022",
doi = "10.1038/s41574-022-00682-7",
language = "English (US)",
journal = "Nature Clinical Practice Endocrinology and Metabolism",
issn = "1759-5029",
publisher = "Nature Publishing Group",
}