Aspek Klinik, Genetik dan Molekuler Osteogensis Imperfekta
<p>Osteogenesis imperfects (OI) is a heritable disorder of connective tissue that mainly affects the bones. Being always associated with bone fragility, it is also known as "brittle bone" disease. Multiple bone fractures with minimal or absent trauma, dentinogenesis imperfects, short...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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Faculty of Dentistry, Universitas Indonesia
2015-10-01
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| Series: | Journal of Dentistry Indonesia |
| Subjects: | |
| Online Access: | http://jdentistry.ui.ac.id/index.php/JDI/article/view/818 |
| _version_ | 1817983351477239808 |
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| author | Mariska Mariska Elza Ibrahim Auerkari |
| author_facet | Mariska Mariska Elza Ibrahim Auerkari |
| author_sort | Mariska Mariska |
| collection | DOAJ |
| description | <p>Osteogenesis imperfects (OI) is a heritable disorder of connective tissue that mainly affects the bones. Being always associated with bone fragility, it is also known as "brittle bone" disease. Multiple bone fractures with minimal or absent trauma, dentinogenesis imperfects, short stature, blue slerae, and in adult years, hearing loss. Most cases of OI, which is inherited in an autosomal dominant manner, result from mutations affecting the genes COL1A1 (collagen type I alpha 1) and COL1A2 (collagen type I alpha 2) that encode pro-α 2 chains of type I collagen. The type I collagen molecule accounts for about 90% of the organic matrix of the bone. In addition, collagen forms a family of proteins that strengthen and support many tissues in the body, including cartilage, tendons, skin, and the white part of the eye (sclera). This paper aims to review the genetic contribution to OI.</p> |
| first_indexed | 2024-04-13T23:32:08Z |
| format | Article |
| id | doaj.art-02f089683dee48f8af5b3b87d1047cf8 |
| institution | Directory Open Access Journal |
| issn | 1693-9697 2355-4800 |
| language | English |
| last_indexed | 2024-04-13T23:32:08Z |
| publishDate | 2015-10-01 |
| publisher | Faculty of Dentistry, Universitas Indonesia |
| record_format | Article |
| series | Journal of Dentistry Indonesia |
| spelling | doaj.art-02f089683dee48f8af5b3b87d1047cf82022-12-22T02:24:51ZengFaculty of Dentistry, Universitas IndonesiaJournal of Dentistry Indonesia1693-96972355-48002015-10-011429511010.14693/jdi.v14i2.818712Aspek Klinik, Genetik dan Molekuler Osteogensis ImperfektaMariska Mariska0Elza Ibrahim Auerkari1Orthodontics Residency Program, Faculty of Dentistry, Universitas Indonesia, Jakarta 10430Department of Oral Biology, Faculty of Dentistry, Universitas Indonesia, Jakarta 10430<p>Osteogenesis imperfects (OI) is a heritable disorder of connective tissue that mainly affects the bones. Being always associated with bone fragility, it is also known as "brittle bone" disease. Multiple bone fractures with minimal or absent trauma, dentinogenesis imperfects, short stature, blue slerae, and in adult years, hearing loss. Most cases of OI, which is inherited in an autosomal dominant manner, result from mutations affecting the genes COL1A1 (collagen type I alpha 1) and COL1A2 (collagen type I alpha 2) that encode pro-α 2 chains of type I collagen. The type I collagen molecule accounts for about 90% of the organic matrix of the bone. In addition, collagen forms a family of proteins that strengthen and support many tissues in the body, including cartilage, tendons, skin, and the white part of the eye (sclera). This paper aims to review the genetic contribution to OI.</p>http://jdentistry.ui.ac.id/index.php/JDI/article/view/818osteogenesis imperfectamolecular geneticsclinical features |
| spellingShingle | Mariska Mariska Elza Ibrahim Auerkari Aspek Klinik, Genetik dan Molekuler Osteogensis Imperfekta Journal of Dentistry Indonesia osteogenesis imperfecta molecular genetics clinical features |
| title | Aspek Klinik, Genetik dan Molekuler Osteogensis Imperfekta |
| title_full | Aspek Klinik, Genetik dan Molekuler Osteogensis Imperfekta |
| title_fullStr | Aspek Klinik, Genetik dan Molekuler Osteogensis Imperfekta |
| title_full_unstemmed | Aspek Klinik, Genetik dan Molekuler Osteogensis Imperfekta |
| title_short | Aspek Klinik, Genetik dan Molekuler Osteogensis Imperfekta |
| title_sort | aspek klinik genetik dan molekuler osteogensis imperfekta |
| topic | osteogenesis imperfecta molecular genetics clinical features |
| url | http://jdentistry.ui.ac.id/index.php/JDI/article/view/818 |
| work_keys_str_mv | AT mariskamariska aspekklinikgenetikdanmolekulerosteogensisimperfekta AT elzaibrahimauerkari aspekklinikgenetikdanmolekulerosteogensisimperfekta |