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From Structure to Phenotype: Impact of Collagen Alterations on Human Health
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 re...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5983607/ https://www.ncbi.nlm.nih.gov/pubmed/29738498 http://dx.doi.org/10.3390/ijms19051407 |
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author | Arseni, Lavinia Lombardi, Anita Orioli, Donata |
author_facet | Arseni, Lavinia Lombardi, Anita Orioli, Donata |
author_sort | Arseni, Lavinia |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-5983607 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-59836072018-06-05 From Structure to Phenotype: Impact of Collagen Alterations on Human Health Arseni, Lavinia Lombardi, Anita Orioli, Donata Int J Mol Sci Review 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. MDPI 2018-05-08 /pmc/articles/PMC5983607/ /pubmed/29738498 http://dx.doi.org/10.3390/ijms19051407 Text en © 2018 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Arseni, Lavinia Lombardi, Anita Orioli, Donata From Structure to Phenotype: Impact of Collagen Alterations on Human Health |
title | From Structure to Phenotype: Impact of Collagen Alterations on Human Health |
title_full | From Structure to Phenotype: Impact of Collagen Alterations on Human Health |
title_fullStr | From Structure to Phenotype: Impact of Collagen Alterations on Human Health |
title_full_unstemmed | From Structure to Phenotype: Impact of Collagen Alterations on Human Health |
title_short | From Structure to Phenotype: Impact of Collagen Alterations on Human Health |
title_sort | from structure to phenotype: impact of collagen alterations on human health |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5983607/ https://www.ncbi.nlm.nih.gov/pubmed/29738498 http://dx.doi.org/10.3390/ijms19051407 |
work_keys_str_mv | AT arsenilavinia fromstructuretophenotypeimpactofcollagenalterationsonhumanhealth AT lombardianita fromstructuretophenotypeimpactofcollagenalterationsonhumanhealth AT oriolidonata fromstructuretophenotypeimpactofcollagenalterationsonhumanhealth |