Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Chaochun Zou"'
Autor:
Ling-Hui Zeng, Chao Tang, Minli Yao, Qiangqiang He, Meiyu Qv, Qianlei Ren, Yana Xu, Tingyu Shen, Weizhong Gu, Chengyun Xu, Chaochun Zou, Xing Ji, Ximei Wu, Jirong Wang
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-12 (2024)
Abstract Aberrant activation of sonic hedgehog (SHH) signaling and its effector transcriptional factor GLI1 are essential for oncogenesis of SHH-dependent medulloblastoma (MBSHH) and basal cell carcinoma (BCC). Here, we show that SHH inactivates p38
Externí odkaz:
https://doaj.org/article/28574c1ec61742cea958ccacabc3e043
Autor:
Jiu-Ru Sun, Liang-Zhong Yang, Yang-Li Dai, Huang Wu, Siqi Li, Yi-Feng Xu, Youkui Huang, Hao Wu, Zheng Shen, Chaochun Zou, Ling-Ling Chen
Publikováno v:
RNA Biology, Vol 20, Iss 1, Pp 419-430 (2023)
The genetic disorder Prader-Willi syndrome (PWS) is mainly caused by the loss of multiple paternally expressed genes in chromosome 15q11-q13 (the PWS region). Early diagnosis of PWS is essential for timely treatment, leading to effectively easing som
Externí odkaz:
https://doaj.org/article/1a62c2abbc9b4152bba05d4ca2b9426e
Autor:
Xuefei Chen, Chaochun Zou
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 4, Pp n/a-n/a (2024)
Abstract Background Kenny–Caffey syndrome type 2 (KCS2) is an extremely rare inherited disorder characterized by proportionate short stature, skeletal defects, ocular and dental abnormalities, and transient hypocalcemia. It is caused by variants in
Externí odkaz:
https://doaj.org/article/7a660dd7e633491ea50b58b04affa55b
Autor:
Kaiyan Wei, Chaochun Zou
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
The NAA10 gene encodes the catalytic subunit of the N-terminal acetyltransferase protein complex A (NatA), which is supposed to acetylate approximately 40% of the human proteins. After the advent of next-generation sequencing, more variants in the NA
Externí odkaz:
https://doaj.org/article/6ce33088bda54d8486cfcf1961bbd954
Autor:
Weijun Chen, Lidan Sun, Xinyu He, Ziqiao Li, Chai Ji, Fangfang Li, Jiyang Shen, Tianxin Pan, Xuejing Jin, Yusang Dong, Lidan Hu, Chaochun Zou, Guannan Bai
Publikováno v:
Frontiers in Public Health, Vol 11 (2023)
IntroductionWilliams syndrome (WS) is a rare genetic disorder that impacts multiple systems and may cause developmental delays. These medical and developmental issues impose a heavy burden on affected children and their families. However, there was n
Externí odkaz:
https://doaj.org/article/4b5c059e746b4ae38b692f00bd8b27ed
Publikováno v:
BMC Pediatrics, Vol 22, Iss 1, Pp 1-6 (2022)
Abstract Background Glucose phosphate isomerase (GPI) deficiency is a rare autosomal recessive disorder that causes hereditary nonspherocytic hemolytic anemia (HNSHA). Homozygous or compound heterozygous mutation of the GPI gene on chromosome 19q13 i
Externí odkaz:
https://doaj.org/article/ad23d87929684089a5a6f84c7e9cb42d
Autor:
Yanjie Qian, Fangling Xia, Yiming Zuo, Mianling Zhong, Lili Yang, Yonghui Jiang, Chaochun Zou
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-15 (2022)
Abstract Background In recent years, more studies have observed that patients with Prader–Willi syndrome have lower insulin levels and lower insulin resistance than body mass index-matched controls, which may suggest protected glucose metabolism. M
Externí odkaz:
https://doaj.org/article/4af2f0f8ca7b497aa65719f0e6742203
Autor:
Yingying Shu, Chaochun Zou, Yuqing Cai, Qiangqiang He, Xiaowei Wu, Haibin Zhu, Meiyu Qv, Yunqi Chao, Chengyun Xu, Lanfang Tang, Ximei Wu
Publikováno v:
Redox Biology, Vol 56, Iss , Pp 102420- (2022)
Vitamin C (VC, l-ascorbic acid) is an essential nutrient that plays a key role in metabolism and functions as a potent antioxidant in regulating the S-nitrosylation and denitrosylation of target proteins. The precise function of VC deprivation in glu
Externí odkaz:
https://doaj.org/article/f05bb5293ebc4f0291eeaafc12a0200b
Autor:
Yunqi Chao, Yonghui Jiang, Mianling Zhong, Kaiyan Wei, Chenxi Hu, Yifang Qin, Yiming Zuo, Lili Yang, Zheng Shen, Chaochun Zou
Publikováno v:
Cell & Bioscience, Vol 11, Iss 1, Pp 1-16 (2021)
Abstract Alternative splicing (AS) regulates gene expression patterns at the post-transcriptional level and generates a striking expansion of coding capacities of genomes and cellular protein diversity. RNA splicing could undergo modulation and close
Externí odkaz:
https://doaj.org/article/7ebbd72cbc2a44b983a2cb7f30206311
Publikováno v:
Case Reports in Genetics, Vol 2022 (2022)
Copy number variations (CNV) are thought to play an important role in causing human diseases, including congenital anomalies, psychiatric disorders, and intellectual disabilities. We report here a one-year-old boy presented to our clinic as developme
Externí odkaz:
https://doaj.org/article/09211209366c4eeb968f725a14a63c7a