دورية أكاديمية
أعرض في EDS

COL2A1 Gene Mutations: Mechanisms of Spondyloepiphyseal Dysplasia Congenita

التفاصيل البيبلوغرافية
العنوان: COL2A1 Gene Mutations: Mechanisms of Spondyloepiphyseal Dysplasia Congenita
المؤلفون: Nenna R, Turchetti A, Mastrogiorgio G, Midulla F
المصدر: The Application of Clinical Genetics, Vol Volume 12, Pp 235-238 (2019)
بيانات النشر: Dove Medical Press, 2019.
سنة النشر: 2019
المجموعة: LCC:Medicine (General)
LCC:Genetics
مصطلحات موضوعية: col2a1 gene, type ii collagen, spondyloepiphyseal dysplasia congenita, Medicine (General), R5-920, Genetics, QH426-470
الوصف: Raffaella Nenna,1 Arianna Turchetti,1 Gerarda Mastrogiorgio,2 Fabio Midulla1 1Department of Paediatrics, Sapienza University, Rome, Italy; 2Department of Biomedicine and Prevention, University of Rome “Tor Vergata”, Rome, ItalyCorrespondence: Raffaella NennaDepartment of Paediatrics, “Sapienza” University of Rome, V.le Regina Elena 324, Rome 00161, ItalyTel +390649979363Email raffaella.nenna@uniroma1.itAbstract: The COL2A1 gene consists of 54 exons spanning over 31.5 kb and encodes for type II collagen. Type II collagen is the main component of hyaline cartilage extracellular matrix, nucleus pulposus of intervertebral discus, vitreous humor of the eye and inner ear structure. Molecular defects in COL2A1 gene cause a wide variety of rare autosomal-dominant conditions known as type II collagenopathies. A clear genotype–phenotype relationship is not yet known. However, some correlations are described. Spondyloephyseal dysplasia congenita was suggested for a short-trunk dwarfing condition affecting primarily the vertebrae and the proximal epiphyses of the long bones.Keywords: COL2A1 gene, type II collagen, spondyloepiphyseal dysplasia congenita
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 1178-704X
Relation: https://www.dovepress.com/col2a1-gene-mutations-mechanisms-of-spondyloepiphyseal-dysplasia-conge-peer-reviewed-article-TACG; https://doaj.org/toc/1178-704X
URL الوصول: https://doaj.org/article/33af92c674b6464ebdd1420cc78f8e27
رقم الأكسشن: edsdoj.33af92c674b6464ebdd1420cc78f8e27
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:1178704X