Zobrazeno 1 - 10
of 92
pro vyhledávání: '"Huijun Shen"'
Autor:
Qing Ye, Hanyan Meng, Fang Ye, Haidong Fu, Jingjing Wang, Fei Liu, Huijun Shen, Yu Bao, Chunyue Feng, Xiaojing Zhang, Guoping Huang, Yi Xie, Xiujuan Zhu, Manli Zhao, Guoji Guo, Jianhua Mao
Publikováno v:
Clinical and Translational Medicine, Vol 14, Iss 4, Pp n/a-n/a (2024)
Externí odkaz:
https://doaj.org/article/91e9a061792540e3b290b184af2bec84
Publikováno v:
Frontiers in Ecology and Evolution, Vol 11 (2023)
The large green cascade frog (Odorrana graminea sensu stricto) shows significant genetic differentiation in China, forming western, southern, and eastern clades. However, the morphological differentiation among the three clades is unclear, and the in
Externí odkaz:
https://doaj.org/article/61b942314d4f4426aa71e61cca8bedd2
Autor:
Yuchen Li, Keyu Yang, Fang Zhang, Jing Wang, Huijun Shen, Miaomiao Liu, Junhong Guo, Jie Wang
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
BackgroundAlthough the diagnosis is mainly dependent on the detection of anti-N-methyl-D-aspartate receptor (NMDAR) antibodies in cerebrospinal fluid (CSF) and/or serum, there was no direct correlations between anti-NMDAR antibody titers in CSF and d
Externí odkaz:
https://doaj.org/article/0147561984f74dd8909303b71c032aec
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Cryptococcal meningitis is the most common fungal meningitis in clinical practice. It primarily occurs in immunocompromised people and is typically associated with human immunodeficiency virus (HIV) infection. In rare cases, it is associated with Hod
Externí odkaz:
https://doaj.org/article/d5700c47eac14f8c9e31425046e8e51e
Publikováno v:
Kidney Diseases, Vol 7, Iss 5, Pp 343-349 (2021)
Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder, accounting for approximately 5% of all ESRD cases worldwide. As a vasopressin receptor 2 antagonist, tolvaptan is the FDA-approved therapeu
Externí odkaz:
https://doaj.org/article/c47463bd88ad47b28ca7bf81d48cba96
Autor:
Chengxian Xu, Lingxiao Tong, Jia Rao, Qing Ye, Yuxia Chen, Yingying Zhang, Jie Xu, Xiaoting Mao, Feilong Meng, Huijun Shen, Zhihong Lu, Xiaohui Cang, Haidong Fu, Shugang Wang, Weiyue Gu, En-Yin Lai, Min-Xin Guan, Pingping Jiang, Jianhua Mao
Publikováno v:
JCI Insight, Vol 7, Iss 11 (2022)
Inherited kidney diseases are the fifth most common cause of end-stage renal disease (ESRD). Mitochondrial dysfunction plays a vital role in the progression of inherited kidney diseases, while mitochondrial-transfer RNA (mt-tRNA) variants and their p
Externí odkaz:
https://doaj.org/article/286b853126764869b70ca5a635131c91
Publikováno v:
BMC Pediatrics, Vol 21, Iss 1, Pp 1-7 (2021)
Abstract Background Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder. Up to now, reports on the clinical characteristics of MPS IVA mainly focused on patients with progressive bone dyspl
Externí odkaz:
https://doaj.org/article/a62b79beb13845a899b97f3eaa6f2871
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: Lesch-Nyhan disease (LND) is a rare disorder involving pathogenic variants in the HPRT1 gene encoding the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT) that result in hyperuricemia, intellectual disability, dystonic moveme
Externí odkaz:
https://doaj.org/article/721b5fac6ce7462b9246ba1144d4b636
Publikováno v:
BMC Pediatrics, Vol 20, Iss 1, Pp 1-6 (2020)
Abstract Background 13q33–q34 microdeletions are rare chromosomal aberrations associated with a high risk of developmental disability, facial dysmorphism, cardiac defects and other malformation of organs. It is necessary to collect and report evide
Externí odkaz:
https://doaj.org/article/a7c9e45cd20e4f8dab65b732ecc0faa5
Autor:
Lingxia Zhang, Shugang Wang, Ruoque Mao, Haidong Fu, Jingjing Wang, Huijun Shen, Zhihong Lu, Junyi Chen, Yu Bao, Chunyue Feng, En Yin Lai, Qing Ye, Jianhua Mao
Publikováno v:
Genetics Research, Vol 2022 (2022)
Background. Both Lowe syndrome and Dent-2 disease are caused by variants in the OCRL gene. However, the reason why patients with similar OCRL gene mutations presented with different phenotypes remains uncertain. Methods. Children with hemizygous path
Externí odkaz:
https://doaj.org/article/22bfec9418fe4a10bd0b252efa00acf4