From Structure to Phenotype: Impact of Collagen Alterations on Human Health.
From Structure to Phenotype: Impact of Collagen Alterations on Human Health.
复制标题
DOI：
10.3390/ijms19051407
复制
发表时间：
2018-05-08
影响因子：
5.6
通讯作者：
Orioli D
中科院分区：
文献类型：
--
作者：
Arseni L;Lombardi A;Orioli D
细胞外基质(ECM)是一种高度动态和异质的结构，在生物体中扮演着多种角色。它的完整性和动态平衡对于正常的组织发育和器官生理学至关重要。细胞外基质成分的丢失或改变会导致疾病转归。在这篇综述中，我们提供了细胞外基质成分的一般概述，特别是胶原蛋白，最丰富和多样化的细胞外基质分子。我们讨论了细胞外基质的不同功能，包括它对细胞增殖、迁移和分化的影响，强调了基质和周围细胞之间的双向串扰的相关性。通过系统地回顾所有与胶原结构改变或导致胶原过度降解相关的遗传性疾病，我们指出了胶原的功能相关性，从而指出了细胞外基质成分与人类健康的相关性。此外，胶原相关疾病的临床特征有很大的重叠，在某些情况下，患者的临床诊断非常困难。更好地了解ECM的复杂性和调控各种ECM元件的表达和功能的分子机制将是全面识别不同临床实体的基础。
The extracellular matrix (ECM) is a highly dynamic and heterogeneous structure that plays multiple roles in living organisms. Its integrity and homeostasis are crucial for normal tissue development and organ physiology. Loss or alteration of ECM components turns towards a disease outcome. In this review, we provide a general overview of ECM components with a special focus on collagens, the most abundant and diverse ECM molecules. We discuss the different functions of the ECM including its impact on cell proliferation, migration and differentiation by highlighting the relevance of the bidirectional cross-talk between the matrix and surrounding cells. By systematically reviewing all the hereditary disorders associated to altered collagen structure or resulting in excessive collagen degradation, we point to the functional relevance of the collagen and therefore of the ECM elements for human health. Moreover, the large overlapping spectrum of clinical features of the collagen-related disorders makes in some cases the patient clinical diagnosis very difficult. A better understanding of ECM complexity and molecular mechanisms regulating the expression and functions of the various ECM elements will be fundamental to fully recognize the different clinical entities.
登录
查看更多内容
影响因子：
9.8
作者：
Brown, MR;Tomek, MS;Smith, RJH
通讯作者：
Smith, RJH
影响因子：
2
作者：
Baker, Stuart;Booth, Carol;Ala-Kokko, Leena
通讯作者：
Ala-Kokko, Leena
DOI：
10.1002/ajmg.1320130304
发表时间：
1982-01-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
ANDERSON, CE;SILLENCE, DO;RIMOIN, DL
通讯作者：
RIMOIN, DL
DOI：
10.1073/pnas.1416181112
发表时间：
2015-02-03
影响因子：
11.1
作者：
Arseni, Lavinia;Lanzafame, Manuela;Orioli, Donata
通讯作者：
Orioli, Donata
影响因子：
13.6
作者：
Badenas, C;Praga, M;Torra, R
通讯作者：
Torra, R