Growth plate extracellular matrix defects and short stature in children
Many etiological factors causing short stature have already been identified in humans. In the last few years, the advent of new techniques for the detection of chromosomal and molecular abnormalities has made it possible to better identify patients with genetic causes of growth failure. Some of thes...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Korean Society of Pediatric Endocrinology
2022-12-01
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| Series: | Annals of Pediatric Endocrinology & Metabolism |
| Subjects: | |
| Online Access: | http://e-apem.org/upload/pdf/apem-2244120-060.pdf |
| _version_ | 1797961390426685440 |
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| author | Maria Alessandra Saltarelli Alessia Quarta Francesco Chiarelli |
| author_facet | Maria Alessandra Saltarelli Alessia Quarta Francesco Chiarelli |
| author_sort | Maria Alessandra Saltarelli |
| collection | DOAJ |
| description | Many etiological factors causing short stature have already been identified in humans. In the last few years, the advent of new techniques for the detection of chromosomal and molecular abnormalities has made it possible to better identify patients with genetic causes of growth failure. Some of these factors directly affect the development and growth of the skeleton, since they damage the epiphyseal growth plate, where linear growth occurs, influencing chondrogenesis. In particular, defects in genes involved in the organization and function of the growth plate are responsible for several well-known conditions with short stature. These genes play a pivotal role in various mechanisms involving the extracellular matrix, intracellular signaling, paracrine signaling, endocrine signaling, and epigenetic regulation. In this review, we will discuss the genes involved in extracellular matrix disorders. The identification of genetic defects in linear growth failure is important for clinicians and researchers in order to improve the care of children affected by growth disorders. |
| first_indexed | 2024-04-11T00:57:40Z |
| format | Article |
| id | doaj.art-6e44877a0fa44242a190850ac9e42116 |
| institution | Directory Open Access Journal |
| issn | 2287-1012 2287-1292 |
| language | English |
| last_indexed | 2024-04-11T00:57:40Z |
| publishDate | 2022-12-01 |
| publisher | Korean Society of Pediatric Endocrinology |
| record_format | Article |
| series | Annals of Pediatric Endocrinology & Metabolism |
| spelling | doaj.art-6e44877a0fa44242a190850ac9e421162023-01-04T23:45:25ZengKorean Society of Pediatric EndocrinologyAnnals of Pediatric Endocrinology & Metabolism2287-10122287-12922022-12-0127424725510.6065/apem.2244120.060962Growth plate extracellular matrix defects and short stature in childrenMaria Alessandra Saltarelli0Alessia Quarta1Francesco Chiarelli2 Department of Pediatrics, University of Chieti, Chieti, Italy Department of Pediatrics, University of Chieti, Chieti, Italy Department of Pediatrics, University of Chieti, Chieti, ItalyMany etiological factors causing short stature have already been identified in humans. In the last few years, the advent of new techniques for the detection of chromosomal and molecular abnormalities has made it possible to better identify patients with genetic causes of growth failure. Some of these factors directly affect the development and growth of the skeleton, since they damage the epiphyseal growth plate, where linear growth occurs, influencing chondrogenesis. In particular, defects in genes involved in the organization and function of the growth plate are responsible for several well-known conditions with short stature. These genes play a pivotal role in various mechanisms involving the extracellular matrix, intracellular signaling, paracrine signaling, endocrine signaling, and epigenetic regulation. In this review, we will discuss the genes involved in extracellular matrix disorders. The identification of genetic defects in linear growth failure is important for clinicians and researchers in order to improve the care of children affected by growth disorders.http://e-apem.org/upload/pdf/apem-2244120-060.pdfchildshort staturegrowth plateextracellular matrixcartilage |
| spellingShingle | Maria Alessandra Saltarelli Alessia Quarta Francesco Chiarelli Growth plate extracellular matrix defects and short stature in children Annals of Pediatric Endocrinology & Metabolism child short stature growth plate extracellular matrix cartilage |
| title | Growth plate extracellular matrix defects and short stature in children |
| title_full | Growth plate extracellular matrix defects and short stature in children |
| title_fullStr | Growth plate extracellular matrix defects and short stature in children |
| title_full_unstemmed | Growth plate extracellular matrix defects and short stature in children |
| title_short | Growth plate extracellular matrix defects and short stature in children |
| title_sort | growth plate extracellular matrix defects and short stature in children |
| topic | child short stature growth plate extracellular matrix cartilage |
| url | http://e-apem.org/upload/pdf/apem-2244120-060.pdf |
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