Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Yurong, Piao"'
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101112- (2024)
Aim: To investigate the characteristics of 4 Chinese patients with Bartter syndrome type 3 (BS Type 3). Methods: The clinical data, genetic analysis, and outcome of four cases with Bartter syndrome type 3 were retrospectively summarised. Results: Gen
Externí odkaz:
https://doaj.org/article/865e1eb70bf24879a652647946184996
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101043- (2024)
Background: Maturity-onset diabetes of the young, type 13 (MODY13) is a specific subclass of monogenic diabetes mellitus that does not exhibit the typical clinical manifestations of diabetes, necessitating the use of genetic testing for accurate diag
Externí odkaz:
https://doaj.org/article/c9e65043e21f46fa9f9e93c69c63eb39
Autor:
Zhou Shu, Yue Zhang, Tongxin Han, Yan Li, Yurong Piao, Fei Sun, Jin Ma, Wenxiu Mo, Jiapeng Sun, Koon-Wing Chan, Wanling Yang, Yu-Lung Lau, Huawei Mao
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
Cryopyrin-associated periodic syndrome (CAPS) comprises a group of disorders characterized by recurrent bouts of systemic inflammation related to overactivation of inflammasome. So far, neither large cases of the correlation between genotype and phen
Externí odkaz:
https://doaj.org/article/e15c585946b44e8b8ff9c2b2ae98c543
Autor:
Zhou Shu, Yue Zhang, Tongxin Han, Yan Li, Yurong Piao, Fei Sun, Jin Ma, Wenxiu Mo, Jiapeng Sun, Koon-Wing Chan, Wanling Yang, Yu-Lung Lau, Huawei Mao
Publikováno v:
Frontiers in Immunology; 2023, p01-12, 12p
137words Background: MODY13 (Maturity-onset diabetes of the young, type 13) is monogenic diabetes associated with the KCNJ11 mutation rarely reported to date. A patient with c.843C>T(p.L281=) in the KCNJ11 gene is reported only in a Chinese patient w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4ff02095095e759f92cb7ad78de6a848
https://doi.org/10.21203/rs.3.rs-2888292/v1
https://doi.org/10.21203/rs.3.rs-2888292/v1
Autor:
Jianghong, Deng, Caifeng, Li, Weiying, Kuang, Tongxin, Han, Junmei, Zhang, Xiaohua, Tan, Chao, Li, Yan, Li, Shipeng, Li, Yurong, Piao
Publikováno v:
Clinical and Experimental Rheumatology. 39:1440-1445
Cerebral venous sinus thrombosis (CVST) is a rare complication of childhood-onset SLE (cSLE) and is potentially fatal to the patient. In order to better define the characteristics of CVST in cSLE, we analysed a single-centre study of cSLE presenting
Publikováno v:
Medicine. 101:e32461
Maturity-onset diabetes of the young (MODY) is a group of autosomal dominant monogenic diabetes mellitus with a wide range of clinical manifestations that require distinct treatment strategies. MODY9 (OMIM # 612225) is a rare type of MODY, caused by
Autor:
Jianghong Deng, Weiying Kuang, Jiang Wang, Shuang-Ying Ke, Caifeng Li, Yurong Piao, Xiaohua Tan, Tongxin Han, Junmei Zhang, Chao Li
Publikováno v:
World Journal of Pediatrics. 16:82-88
Fibrodysplasia ossificans progressiva (FOP) is a rare and disabling heritable connective tissue disease that is difficult to treat. This study seeks to explore the clinical characteristics, clinical manifestations, treatment and prognosis of FOP to p
Autor:
Chao Li, Shipeng Li, Weiying Kuang, Yurong Piao, Yan Li, Fei Sun, Caifeng Li, Wenxiu Mo, Jiang Wang, Junmei Zhang, Jianghong Deng, Wenxu Yang, Tongxin Han, Xiaohua Tan, Jiapeng Sun
Publikováno v:
Clinical rheumatology. 38(5)
Recently, it was reported that circular RNAs (circRNAs) play the crucial role in many physiological and biological processes and can be used as biomarkers. However, the information about circRNAs in children with systemic lupus erythematosus (SLE) is
Autor:
Shipeng, Li, Caifeng, Li, Junmei, Zhang, Xiaohua, Tan, Jianghong, Deng, Ruijun, Jiang, Yan, Li, Yurong, Piao, Chao, Li, Wenxu, Yang, Wenxiu, Mo, Jiapeng, Sun, Fei, Sun, Tongxin, Han, Weiying, Kuang, Yifang, Zhou
Publikováno v:
Clinical and experimental rheumatology. 37(1)
Long noncoding RNAs (lncRNAs) are reported to play crucial roles in several physiological and biological processes. However, knowledge of lncRNAs in children with systemic lupus erythematosus (cSLE) remains limited. We investigate lncRNA expression p