期刊
NATURE REVIEWS ENDOCRINOLOGY
卷 18, 期 8, 页码 473-489出版社
NATURE PORTFOLIO
DOI: 10.1038/s41574-022-00682-7
关键词
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资金
- Deutsche Forschungsgemeinschaft [AN372/16-2, AN372/20-2, AN372/30-1]
- Division of Intramural Research of the National Institute of Dental and Craniofacial Research, NIH
- NIH [HL114806, HL069229, R01 DK 107870, DK125252]
- Fred C. and Katherine B. Andersen Foundation
- Ruth and Vernon Taylor Professorship
- Mayo Clinic
- Universite de Paris Saclay
- American Diabetes Association [1-18-IBS-224]
- J.D. and Maggie E. Wilson Distinguished Chair in Biomedical Research
- Louis V. Avioli Professorship in Mineral Metabolism Research
- Wellcome Trust Investigator Award
- National Institute for Health Research (NIHR) Senior Investigator Award
- NIHR Oxford Biomedical Research Centre Programme
- Assistance Publique Hopitaux de Paris, France
This review discusses the main regulators of mineralization and crystallization processes in human physiology, as well as related disorders. Advances in the past decade have improved understanding of these disorders and their genetic, molecular, and cellular mechanisms, leading to potential new therapeutic approaches.
This Review considers the principal regulators of the processes of biomineralization and crystallization in human physiology. In addition, disorders of biomineralization are discussed, including bone disorders and disorders of extraskeletal mineralization. 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.
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