Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Meizhen Shi"'
Autor:
Xiaojiao Wei, Yunting Ma, Bobo Xie, Chunrong Gui, Meizhen Shi, Xianda Wei, Yan Huang, Xin Fan, Qiaozhen Wei, Qingmei Huang, Li Deng, Chi Zhang, Xiaoli Deng, Baoheng Gui, Yujun Chen
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-8 (2024)
Abstract Background Thoracic aortic aneurysm/dissection (TAAD) and patent ductus arteriosus (PDA) are serious autosomal-dominant diseases affecting the cardiovascular system. They are mainly caused by variants in the MYH11 gene, which encodes the hea
Externí odkaz:
https://doaj.org/article/ee2612d38b924c69ae8d4af682ab2fb3
Autor:
Xianda Wei, Xu Zhou, BoBo Xie, Meizhen Shi, Chunrong Gui, Bo Liu, Caiyan Li, Chi Zhang, Jiefeng Luo, Cundong Mi, Baoheng Gui
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Vascular Ehlers–Danlos syndrome (vEDS), the most severe type of Ehlers–Danlos syndrome, is caused by an autosomal-dominant defect in the COL3A1 gene. In this report, we describe the clinical history, specific phenotype, and genetic diagnosis of a
Externí odkaz:
https://doaj.org/article/e542adf0d157448faf90ba712b0fd8fe
Autor:
Hanzhe Kuang, Yunlong Li, Yixuan Wang, Meizhen Shi, Ranhui Duan, Qiao Xiao, Haoyuan She, Yingdi Liu, Qiaowei Liang, Yanling Teng, Miaojin Zhou, Desheng Liang, Zhuo Li, Lingqian Wu
Publikováno v:
Cell Reports, Vol 42, Iss 12, Pp 113445- (2023)
Summary: The INTS11 endonuclease is crucial in modulating gene expression and has only recently been linked to human neurodevelopmental disorders (NDDs). However, how INTS11 participates in human development and disease remains unclear. Here, we iden
Externí odkaz:
https://doaj.org/article/99137d83bbf747d8a0d8c85994c6ba90
Autor:
Meizhen Shi, Yuying Liang, Bobo Xie, Xianda Wei, Haiyang Zheng, Chunrong Gui, Rong Huang, Xin Fan, Chuan Li, Xiaojiao Wei, Yunting Ma, Shaoke Chen, Yujun Chen, Baoheng Gui
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Cornelia de Lange syndrome (CdLS) is an autosomal dominant or X-linked genetic disease with significant genetic heterogeneity. Variants of the NIPBL gene are responsible for CdLS in 60% of patients. Herein, we report the case of a patient with CdLS s
Externí odkaz:
https://doaj.org/article/c2ab08a0952c4ec2be91a738b5d223d3
Autor:
Xianda Wei, Xu Zhou, BoBo Xie, Meizhen Shi, Chunrong Gui, Bo Liu, Caiyan Li, Chi Zhang, Jiefeng Luo, Cundong Mi, Baoheng Gui
Publikováno v:
Frontiers in Genetics; 2024, p1-10, 10p
Autor:
石妹珍(Meizhen Shi)
We should not be ignored in clinical and genetic diagnosis of the disease.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::58712f8aa52aafd44b8f4d6025051905
Publikováno v:
Clinica Chimica Acta. 502:91-98
Giant axonal neuropathy (GAN) is a rare and grievous autosomal recessive neurodegenerative disease due to loss-of-function mutation in GAN. However, the chimerism of complex rearrangement sequences of GAN has not been reported so far, and the mechani
Objective—To analyze the correlation between copy number variations (CNVs) and prenatal ultrasound abnormalities, characterize the CNVs in diverse prenatal phenotypes, and provide detailed follow-up results for prenatal diagnosis. Method—The resu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::10219365a88f30788f0e61febc4bf86c
https://doi.org/10.21203/rs.3.rs-139022/v1
https://doi.org/10.21203/rs.3.rs-139022/v1
Publikováno v:
American journal of physiology. Renal physiology. 319(3)
The Wnt/β-catenin signaling pathway is involved in production of the extracellular matrix (ECM) by mesangial cells (MCs). Recent studies by us and others have demonstrated that glucagon-like peptide-1 receptor agonists (GLP-1RAs) have protective eff
Publikováno v:
American Journal of Physiology: Renal Physiology; Sep2020, Vol. 319 Issue 3, pF458-F468, 11p