Zobrazeno 1 - 10
of 823
pro vyhledávání: '"COL2A1"'
Publikováno v:
African Vision and Eye Health, Vol 83, Iss 1, Pp e1-e7 (2024)
Introduction: Stickler syndrome is a rare form of hereditary generalised collagenopathies that manifests as ocular, skeletal, auditory and orofacial symptoms. It arises because of mutations in the procollagen genes COL2A1, COL9A1, COL9A2, COL9A3, COL
Externí odkaz:
https://doaj.org/article/108c408f1a3347038db968032fb1cb08
Autor:
Yujing Gong, Weijian Zhu, Mianmian Zhu, Dan Chen, Sunke Wu, Sisi Hu, Yi Luo, Yiyi Jiang, Ting Zhu, Dan Wang
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
BackgroundStickler syndrome type I (STL1) is an autosomal dominant disorder characterized by ocular, auditory, orofacial, and skeletal anomalies. The main causes of STL1 are variants in the COL2A1 gene, which encodes a type II collagen precursor prot
Externí odkaz:
https://doaj.org/article/63e3e3f513d44b9d9db7c02a73571eca
Publikováno v:
BMC Musculoskeletal Disorders, Vol 25, Iss 1, Pp 1-6 (2024)
Abstract Background Mutations of the COL2A1 gene have been identified in patients with Perthes’ disease. Several studies have hypothesised a connection between Perthes’ disease and collagen synthesis disorders, especially COL2A1-related disorders
Externí odkaz:
https://doaj.org/article/1b12efaa554649cba7fdbf48db962450
Publikováno v:
Bone & Joint Research, Vol 12, Iss 12, Pp 702-711 (2023)
Aims: Knee osteoarthritis (OA) involves a variety of tissues in the joint. Gene expression profiles in different tissues are of great importance in order to understand OA. Methods: First, we obtained gene expression profiles of cartilage, synovium, s
Externí odkaz:
https://doaj.org/article/29d15523780f4699968009c78d41cd19
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
BackgroundStickler syndrome is a hereditary connective tissue disorder associated with ocular, orofacial, musculoskeletal, and auditory impairments. Its main clinical characteristics include retinal detachment, hearing loss, and midface underdevelopm
Externí odkaz:
https://doaj.org/article/ff80fdd6836a43228e88575aea50c255
Autor:
Jindong Tan, Xiao Liu, Mei Zhou, Feng Wang, Lin Ma, Hong Tang, Gang He, Xia Kang, Xuting Bian, Kanglai Tang
Publikováno v:
Bone & Joint Research, Vol 12, Iss 5, Pp 339-351 (2023)
Aims: Mechanical stimulation is a key factor in the development and healing of tendon-bone insertion. Treadmill training is an important rehabilitation treatment. This study aims to investigate the benefits of treadmill training initiated on postoper
Externí odkaz:
https://doaj.org/article/252fb35a407e4b538aa3841bcce0408c
Autor:
Enrica Marchionni, Maria Rosaria D'Apice, Viviana Lupo, Giovanna Lattanzi, Elisabetta Mattioli, Gina Lisignoli, Elena Gabusi, Gerardo Pepe, Manuela Helmer Citterich, Elena Campione, Anna Maria Nardone, Paola Spitalieri, Noemi Pucci, Dario Cocciadiferro, Eliseo Picchi, Francesco Garaci, Antonio Novelli, Giuseppe Novelli
Publikováno v:
Bone Reports, Vol 19, Iss , Pp 101728- (2023)
COL2A1 gene encodes the alpha-1 chain of type-II procollagen. Heterozygous pathogenic variants are associated with the broad clinical spectrum of genetic diseases known as type-II collagenopathies. We aimed to characterize the NM_001844.5:c.1330G>A;p
Externí odkaz:
https://doaj.org/article/7aab59cb6a3344baa1cce4c1308ebddc
Autor:
Mengfei Zhao, Runrun Zhang, Cen Chang, Yehua Jin, Lingxia Xu, Shicheng Guo, Steven Schrodi, Yong He, Dongyi He
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
BackgroundCzech dysplasia is a rare skeletal disorder with symptomatology including platyspondyly, brachydactyly of the third and fourth toes, and early-onset progressive pseudorheumatoid arthritis. The disorder segregates in an autosomal dominant fa
Externí odkaz:
https://doaj.org/article/7393764bf2a041bb866d24a83dc1905c
Autor:
Guiyu Lou, Yuanyin Zhao, Huiru Zhao, Yuwei Zhang, Bingtao Hao, Litao Qin, Hongyan Liu, Shixiu Liao
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Spondyloepiphyseal dysplasia tarda (SEDT) is a condition involving late-onset, X-linked recessive skeletal dysplasia caused by mutations in the TRAPPC2 gene. In this paper, we identified a novel nonsense variant in a SEDT pedigree and analyzed the fu
Externí odkaz:
https://doaj.org/article/b17e5cbbf7b64521b2b0f00863329645
Autor:
José Guillermo Buendía-Pazarán, Edgar Hernández-Zamora, Armando O. Rodríguez-Olivas, Leonora Casas-Ávila, Margarita Valdés-Flores, Elba Reyes-Maldonado
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-6 (2022)
Abstract Background Legg–Calvé–Perthes disease (LCPD) is the avascular osteonecrosis of the proximal femoral epiphysis. It is a rare disease of unclear etiology in children, although alterations in coagulation or the collagen gene have been desc
Externí odkaz:
https://doaj.org/article/2cf66fbe04374e1c93d1bec63c0e6892