Progress of molecular genetic research on pseudoachon-droplasia and multiple epiphyseal dysplasia
Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) belong to the family of bone dysplasia disorders, which are both genetically and phenotypically heterogeneous. Both disorders are caused by mutations in the cartilage oligomeric matrix protein (COMP). COMP is a member of the thrombospondin (TSP) family, which plays an important role in skeletal development. In this paper, we mainly review the latest advances on the structure, function of COMP. We also discuss the types of COMP mutations, the detection methods and the relationship between the COMP gene and these two diseases.
| Medienart: |
Artikel |
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| Erscheinungsjahr: |
2008 |
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| Erschienen: |
2008 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:30 |
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| Enthalten in: |
Yi chuan = Hereditas - 30(2008), 5 vom: 19. Mai, Seite 537-42 |
| Sprache: |
Chinesisch |
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| Beteiligte Personen: |
Wang, Jing-Jing [VerfasserIn] |
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| Themen: |
Cartilage Oligomeric Matrix Protein |
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| Anmerkungen: |
Date Completed 19.03.2009 Date Revised 23.09.2019 published: Print Citation Status MEDLINE |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM179638238 |
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| 245 | 1 | 0 | |a Progress of molecular genetic research on pseudoachon-droplasia and multiple epiphyseal dysplasia |
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| 500 | |a Date Completed 19.03.2009 | ||
| 500 | |a Date Revised 23.09.2019 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) belong to the family of bone dysplasia disorders, which are both genetically and phenotypically heterogeneous. Both disorders are caused by mutations in the cartilage oligomeric matrix protein (COMP). COMP is a member of the thrombospondin (TSP) family, which plays an important role in skeletal development. In this paper, we mainly review the latest advances on the structure, function of COMP. We also discuss the types of COMP mutations, the detection methods and the relationship between the COMP gene and these two diseases | ||
| 650 | 4 | |a English Abstract | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 4 | |a Review | |
| 650 | 7 | |a Cartilage Oligomeric Matrix Protein |2 NLM | |
| 650 | 7 | |a Extracellular Matrix Proteins |2 NLM | |
| 650 | 7 | |a Glycoproteins |2 NLM | |
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