Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Liang, Liang"'
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Background: Heterozygous mutations in the dehydrodolichol diphosphate synthase (DHDDS) gene are one of the causes generating developmental and epileptic encephalopathies. So far, only eleven mutations in the DHDDS gene have been identified. The mutat
Externí odkaz:
https://doaj.org/article/eb91288c84b6487ab96717e43fdeb2e8
Publikováno v:
Frontiers in Genetics, Vol 13 (2023)
Background: CODAS syndrome (MIM 600373) is a multi-system developmental disorder characterized by cerebral, ocular, dental, auricular, and skeletal anomalies. CODAS syndrome is rare in the world and no cases have been reported in Chinese population s
Externí odkaz:
https://doaj.org/article/12bd25d3051846568377157240eaf4ec
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 9 (2022)
BackgroundDesmin is an intermediate filament protein that plays a critical role in the stabilization of the sarcomeres and cell contacts in the cardiac intercalated disk. Mutated DES gene can cause hereditary cardiomyopathy with heterogeneous phenoty
Externí odkaz:
https://doaj.org/article/5239654982f64a17bdad96734aa6b028
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Background: Transmembrane protein 231 (TMEM231) is a component of the B9 complex that participates in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in TMEM231 gene may contribute to the Joubert syndrome (JBTS
Externí odkaz:
https://doaj.org/article/0ba140f824a7427f93e2d06100310f16
Autor:
Yi Tang, Liyang Zhang, Wenlin Xie, Jieyuan Jin, Yujiao Luo, Mingyang Deng, Zhengyu Liu, Hong Wei Pan, Yi Zhang, Zhaofen Zheng, Liang-Liang Fan
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
Thrombophilia refers to a group of conditions where the blood clots more easily than normal. These blood clots can cause problems such as deep vein thrombosis or pulmonary embolism. Most kinds of mutated coagulation factors II (F2) exhibit lower proc
Externí odkaz:
https://doaj.org/article/3987a4b04140444d892c983c140efc38
Autor:
Wen-Qing Huang, Cong-Xia Lu, Ya Zhang, Ke-Hui Yi, Liang-Liang Cai, Ming-Li Li, Han Wang, Qing Lin, Chi-Meng Tzeng
Publikováno v:
Frontiers in Aging Neuroscience, Vol 8 (2016)
Background: Cerebral cavernous malformations (CCMs) are common vascular malformations that predominantly arise in the central nervous system and are mainly characterized by enlarged vascular cavities without intervening brain parenchyma. Familial CCM
Externí odkaz:
https://doaj.org/article/5b8ba850a065412fb81661eaaa6d845e
Publikováno v:
Frontiers in Aging Neuroscience
Frontiers in Aging Neuroscience, Vol 13 (2021)
Frontiers in Aging Neuroscience, Vol 13 (2021)
Leukodystrophies are a heterogeneous group of inherited disorders with highly variable clinical manifestations and pathogenetic backgrounds. At present, variants in more than 20 genes have been described and may be responsible for different types of
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Frontiers in Pediatrics
Frontiers in Pediatrics
Inherited macrothrombocytopenia (IMTP) is a rare disorder characterized by a reduced platelet count and abnormally large platelets. The main clinical symptom of IMTP is mild bleeding in some patients. At present, more than 30 genes have been identifi
Autor:
Xing-Chen Ding, Liang-Liang Wang, Yu-Fang Zhu, Yan-Dong Li, Shu-Lun Nie, Jia Yang, Hua Liang, Ralph R. Weichselbaum, Jin-Ming Yu, Man Hu
Publikováno v:
Frontiers in Immunology, Vol 11 (2020)
Frontiers in Immunology
Frontiers in Immunology
Background The programmed cell death ligand 1 (PD-L1) plays a key role in glioma development. However, due to the specificity of glioma’s anatomical position, the role of its expression as a tumor biomarker is limited. It has been proven that the l
Autor:
Tang, Yi, Zhang, Liyang, Xie, Wenlin, Jin, Jieyuan, Luo, Yujiao, Deng, Mingyang, Liu, Zhengyu, Pan, Hong Wei, Zhang, Yi, Zheng, Zhaofen, Fan, Liang-Liang
Publikováno v:
Frontiers in Genetics; 2020, p1-7, 7p