Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification.
Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification.
复制标题
家族性肿瘤钙化：从稀有表型的表征到异位钙化的发病机理。
DOI：
10.1038/jid.2009.337
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发表时间：
2010-03
期刊：
影响因子：
--
通讯作者：
中科院分区：
文献类型：
--
作者：
家族性肿瘤钙质沉着症(FTC)是一组以皮肤和皮下钙化肿块为特征的异质性遗传性疾病。现在人们认识到了这种疾病的两种主要形式。已证实高磷血症FTC是由三个基因突变引起的：成纤维细胞生长因子-23(FGF23)编码一种强有力的磷酸蛋白，KL编码Klotho，它是FGF23的共同受体，GALNT3编码一种负责FGF23 O-糖基化的糖基转移酶；这三种蛋白中的任何一种功能缺陷都会导致高磷血症和异位钙化。第二种类型的疾病的特点是没有代谢异常，因此被称为正常磷血症性FTC。这种变异被发现与功能性SAMD9的缺失有关，SAMD9是一种假定的肿瘤抑制和抗炎蛋白。通过对这些罕见疾病的研究收集的数据最近导致了对人类常见疾病发病机制的新方面的发现，突显了罕见疾病研究中隐藏的潜力。
Familial tumoral calcinosis (FTC) refers to a heterogeneous group of inherited disorders characterized by the occurrence of cutaneous and subcutaneous calcified masses. Two major forms of the disease are now recognized. Hyperphosphatemic FTC has been shown to result from mutations in three genes: fibroblast growth factor-23 (FGF23), coding for a potent phosphaturic protein, KL encoding Klotho, which serves as a co-receptor for FGF23, and GALNT3, which encodes a glycosyltransferase responsible for FGF23 O-glycosylation; defective function of any one of these three proteins results in hyperphosphatemia and ectopic calcification. The second form of the disease is characterized by absence of metabolic abnormalities, and is, therefore, termed normophosphatemic FTC. This variant was found to be associated with absence of functional SAMD9, a putative tumor suppressor and anti-inflammatory protein. The data gathered through the study of these rare disorders have recently led to the discovery of novel aspects of the pathogenesis of common disorders in humans, underscoring the potential concealed within the study of rare diseases.
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影响因子：
3.5
作者：
Barbieri, Anna Maria;Filopanti, Marcello;Beck-Peccoz, Paolo
通讯作者：
Beck-Peccoz, Paolo
DOI：
10.1152/ajpendo.90456.2008
发表时间：
2008-10-01
影响因子：
5.1
作者：
Garringer, Holly J.;Malekpour, Mahdi;White, Kenneth E.
通讯作者：
White, Kenneth E.
影响因子：
5.8
作者：
Carpenter, TO;Ellis, BK;Shimkets, R
通讯作者：
Shimkets, R
影响因子：
8.2
作者：
Bastepe, Murat;Jueppner, Harald
通讯作者：
Jueppner, Harald
DOI：
10.1016/j.bbrc.2009.04.004
发表时间：
2009-05-29
影响因子：
3.1
作者：
Asou, Hiroya;Matsui, Hirotaka;Inaba, Toshiya
通讯作者：
Inaba, Toshiya