Zobrazeno 1 - 10
of 121
pro vyhledávání: '"Shixiu, Liao"'
Autor:
Weili Shi, Rui Chen, Mingjie Zhou, Yunian Li, Yuwei Zhang, Jikui Wang, Bingtao Hao, Shixiu Liao
Publikováno v:
Cell Death Discovery, Vol 10, Iss 1, Pp 1-13 (2024)
Abstract Down syndrome (DS), caused by an additional chromosome 21, has a high risk of congenital heart defects (CHD), one of the primary causes of mortality in DS newborns. To elucidate the pathogenetic mechanisms underlying this condition, we explo
Externí odkaz:
https://doaj.org/article/62074cbf7bd543efb0d179f949b42077
Prenatal finding of isolated ventricular septal defect: genetic association, outcomes and counseling
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
The innovation in ultrasound has greatly promoted the prenatal diagnosis of ventricular septal defect. As a minor lesion of congenital heart disease, the prenatal genetic counseling of isolated ventricular septal defect faces some challenges, includi
Externí odkaz:
https://doaj.org/article/3f78c237f35d4824886d2e3993cd4d90
Autor:
Wenke Yang, Shuyue Wang, Xiaodong Huo, Ke Yang, Zhenglong Guo, Yanjun Li, Xinying Ji, Bingtao Hao, Shixiu Liao
Publikováno v:
Heliyon, Vol 10, Iss 17, Pp e37355- (2024)
Background: KIDINS220 encodes a transmembrane scaffold protein, kinase D-interacting substrate of 220 kDa, that regulates neurotrophin signaling. Variants in KIDINS220 have been linked to spastic paraplegia, intellectual disability, nystagmus, and ob
Externí odkaz:
https://doaj.org/article/40d4ca1a988b4b40b7f230cf40ea24ee
Autor:
Jinming Wang, Dan Li, Zhenglong Guo, Yanxin Ren, Li Wang, Yuehua Liu, Kai Kang, Weili Shi, Jianmei Huang, Shixiu Liao, Yibin Hao
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
IntroductionEarly prediction and intervention are crucial for the prognosis of unexplained recurrent spontaneous abortion (uRSA). The main purpose of this study is to establish a risk prediction model for uRSA based on routine pre-pregnancy tests, in
Externí odkaz:
https://doaj.org/article/0be417f1a9664d919fb4be0fa43557f0
Autor:
Zhenglong Guo, Yongchang Zhu, Hai Xiao, Ranran Dai, Wenke Yang, Wei Xue, Xueying Zhang, Bingtao Hao, Shixiu Liao
Publikováno v:
Biological Research, Vol 56, Iss 1, Pp 1-13 (2023)
Abstract Background Growing evidence has suggested that Type I Interferon (I-IFN) plays a potential role in the pathogenesis of Down Syndrome (DS). This work investigates the underlying function of MX1, an effector gene of I-IFN, in DS-associated tra
Externí odkaz:
https://doaj.org/article/eade3ea0fdd74de884874d0f2de7b9da
Autor:
Hongdan Wang, Yue Gao, Litao Qin, Mengting Zhang, Weili Shi, Zhanqi Feng, Liangjie Guo, Bofeng Zhu, Shixiu Liao
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-16 (2023)
Abstract Background In the past decade, SETBP1 has attracted a lot of interest on that the same gene with different type or level (germline or somatic) of variants could provoke different pathologic consequences such as Schinzel-Giedon syndrome, SETB
Externí odkaz:
https://doaj.org/article/44bb6318c48b43d8aeed1f6a8257271e
Autor:
Qian Zhang, Shuya Yang, Xin Chen, Hongdan Wang, Keyan Li, Chaonan Zhang, Shixiu Liao, Litao Qin, Qiaofang Hou
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Background: Meckel Syndrome (MKS, OMIM #249000) is a rare and fatal autosomal recessive ciliopathy with high clinical and genetic heterogeneity. MKS shows complex allelism with other related ciliopathies such as Joubert Syndrome (JBTS, OMIM #213300).
Externí odkaz:
https://doaj.org/article/63832186ae2e43a78d25656518c27fda
Autor:
Delong Feng, Yanhong Chen, Ranran Dai, Shasha Bian, Wei Xue, Yongchang Zhu, Zhaoqiang Li, Yiting Yang, Yan Zhang, Jiarui Zhang, Jie Bai, Litao Qin, Yoshinori Kohwi, Weili Shi, Terumi Kohwi-Shigematsu, Jing Ma, Shixiu Liao, Bingtao Hao
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)
Here the authors show the identity of CD4 + CD8 + double-positive (DP) thymocytes changes upon loss of chromatin organizer Satb1, which controls the expression of cell identity genes by regulating super-enhancers via 3D genome architecture.
Externí odkaz:
https://doaj.org/article/f917d9d280cf413faf3d24ed32aae067
Autor:
Guiyu Lou, Yuanyin Zhao, Huiru Zhao, Yuwei Zhang, Bingtao Hao, Litao Qin, Hongyan Liu, Shixiu Liao
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Spondyloepiphyseal dysplasia tarda (SEDT) is a condition involving late-onset, X-linked recessive skeletal dysplasia caused by mutations in the TRAPPC2 gene. In this paper, we identified a novel nonsense variant in a SEDT pedigree and analyzed the fu
Externí odkaz:
https://doaj.org/article/b17e5cbbf7b64521b2b0f00863329645
Autor:
Yiting Yang, Xidong Ye, Ranran Dai, Zhaoqiang Li, Yan Zhang, Wei Xue, Yongchang Zhu, Delong Feng, Litao Qin, Xin Wang, Bo Lei, Shixiu Liao, Bingtao Hao
Publikováno v:
Communications Biology, Vol 4, Iss 1, Pp 1-14 (2021)
Yang et al find that phase separation of the Epstein-Barr virus nuclear antigen 2 (EBNA2) is involved in the formation of accessible chromatin domains of the host genome. They also find that EBNA2 recruits histone acetyltransferase to promote histone
Externí odkaz:
https://doaj.org/article/54eb75185baa492988225a9b7deef042