Zobrazeno 1 - 10
of 190
pro vyhledávání: '"acan"'
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 4, Pp n/a-n/a (2024)
Abstract Objective To characterize the phenotype spectrum, diagnosis, and response to growth‐promoting therapy in patients with ACAN variants causing familial short stature. Methods Three families with ACAN variants causing short stature were repor
Externí odkaz:
https://doaj.org/article/2d66a09de1d64d4788bdf434211a8176
Autor:
Pinpin Jiang, Dan Liang, Hang Wang, Raorao Zhou, Xianda Che, Linlin Cong, Penghua Li, Chunfang Wang, Wenjin Li, Xiaochun Wei, Pengcui Li
Publikováno v:
Proteome Science, Vol 21, Iss 1, Pp 1-11 (2023)
Abstract Osteoarthritis (OA) is the second-commonest arthritis, but pathogenic and regulatory mechanisms underlying OA remain incompletely understood. Here, we aimed to identify the mechanisms associated with microRNA-1 (miR-1) treatment of OA in rod
Externí odkaz:
https://doaj.org/article/c54e9d06562f4e18ba737c276de2a50b
Publikováno v:
Zhenduanxue lilun yu shijian, Vol 22, Iss 05, Pp 448-453 (2023)
Objective: To analyze the clinical features and genetic changes of 3 children in short stature with ACAN gene mutation. Methods: The clinical data, laboratory examinations, and genetic testing results of 3 children with ACAN gene mutations diagnosed
Externí odkaz:
https://doaj.org/article/1e527218c6724ac9b2829c3064cd6743
Publikováno v:
Journal of Genetic Engineering and Biotechnology, Vol 22, Iss 1, Pp 100341- (2024)
Background: Spondyloepimetaphyseal dysplasias (SEMD) are a large group of skeletal disorders represented by abnormalities of vertebrae in addition to epiphyseal and metaphyseal areas of bones. Several genes have been identified underlying different f
Externí odkaz:
https://doaj.org/article/00b93e0917d749ac9c55d23f9a05ade3
Publikováno v:
Journal of Bioinformatics and Genomics, Vol 2023, Iss 1 (19), Pp 1-12 (2023)
Proteins synthesized by cells of various tissues may have common functions, but at the same time have a heterologous structure. Previously, it was experimentally confirmed that lung suffractant proteins can be synthesized by chondrocytes of articular
Externí odkaz:
https://doaj.org/article/8b6d0dfff0b04398a8bc14c460563c2f
Publikováno v:
JCRPE, Vol 14, Iss 4, Pp 481-484 (2022)
ACAN variants can manifest as various clinical features, including short stature, advanced bone age (BA), and skeletal defects. Here, we report rare clinical manifestations of ACAN defects in a 9 year, 5 month-old girl born small for gestational age
Externí odkaz:
https://doaj.org/article/34da0f46b9c84646a3be097abbf8655a
Akademický článek
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Autor:
Maria Ochoa, Ashlee Yang, Carrie Kollias, Christina Bakir, Sasha Carsen, Joanna Lazier, A. Micheil Innes, Marika Pagé, Jonathan Dawrant, Marie-Eve Robinson, Khaldoun Koujok, Nazih Shenouda, Frank Rauch, Leanne M. Ward
Publikováno v:
Bone Reports, Vol 18, Iss , Pp 101663- (2023)
Osteochondritis dissecans (OCD) is a disease of the joints characterized by idiopathic focal subchondral lesions. Aggrecan, a proteoglycan encoded by the ACAN gene, is important for cartilage structure and function. We describe the clinical evolution
Externí odkaz:
https://doaj.org/article/60811d835fcf43cc96c2f7f728bb368d
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Short stature (OMIM: 165800) is a common pediatric disorder. Any abnormality in the cartilage formation of the growth plate can cause short stature. Aggrecan, encoded by ACAN, is an important component of the extracellular matrix. Mutations in ACAN h
Externí odkaz:
https://doaj.org/article/6609cc22d73144dcb85d2cd05ea2befa
Autor:
Shuyun Deng, Lele Hou, Dan Xia, Xiaojuan Li, Xiaofang Peng, Xiaoqin Xiao, Jieming Zhang, Zhe Meng, Lina Zhang, Nengtai Ouyang, Liyang Liang
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
ObjectiveThis study analyzed eight Chinese short stature children with aggrecan deficiency, and aimed to investigate potential genotype–phenotype correlations, differences in clinical characteristics between the Chinese and the Western populations,
Externí odkaz:
https://doaj.org/article/4d1b3120cff846b9a4e34863bb428f9e