Vitamin-D-Resistant Rickets

MITCHELL, FRED N.

doi:10.1001/archpedi.1957.02060040387005

Cited by 1 publication

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“…Albright et al first described familial hypophosphatemic rickets as vitamin D resistant rickets in 1937 ( Mitchell and Mitchell, 1957 ). XLH (OMIM 307800 ), the most frequent form with a prevalence of 1:20000-60000, is a genetic disease characterized by defective mineralization of bones and tooth dentin, such as osteomalacia and radiolucent dentin ( Winters et al, 1958 ; Opsahl Vital et al, 2012 ; Salmon et al, 2014 ; Baroncelli and Mora, 2021 ).…”

Section: Genetic Syndromes With Dentin Defects Caused By Impaired Odo...mentioning

confidence: 99%

The odontoblastic differentiation of dental mesenchymal stem cells: molecular regulation mechanism and related genetic syndromes

Pan,

Yang,

et al. 2023

Front. Cell Dev. Biol.

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Dental mesenchymal stem cells (DMSCs) are multipotent progenitor cells that can differentiate into multiple lineages including odontoblasts, osteoblasts, chondrocytes, neural cells, myocytes, cardiomyocytes, adipocytes, endothelial cells, melanocytes, and hepatocytes. Odontoblastic differentiation of DMSCs is pivotal in dentinogenesis, a delicate and dynamic process regulated at the molecular level by signaling pathways, transcription factors, and posttranscriptional and epigenetic regulation. Mutations or dysregulation of related genes may contribute to genetic diseases with dentin defects caused by impaired odontoblastic differentiation, including tricho-dento-osseous (TDO) syndrome, X-linked hypophosphatemic rickets (XLH), Raine syndrome (RS), hypophosphatasia (HPP), Schimke immuno-osseous dysplasia (SIOD), and Elsahy-Waters syndrome (EWS). Herein, recent progress in the molecular regulation of the odontoblastic differentiation of DMSCs is summarized. In addition, genetic syndromes associated with disorders of odontoblastic differentiation of DMSCs are discussed. An improved understanding of the molecular regulation and related genetic syndromes may help clinicians better understand the etiology and pathogenesis of dentin lesions in systematic diseases and identify novel treatment targets.

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