Zobrazeno 1 - 10
of 64
pro vyhledávání: '"Yixuan Cao"'
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-8 (2024)
Abstract Background Synpolydactyly (SPD) is mainly caused by mutations of polyalanine expansion (PAE) in the transcription factor gene HOXD13 and the involved cell types and signal pathway are still not clear possible pathways and single-cell express
Externí odkaz:
https://doaj.org/article/8825d8e27a1e4c4e8a9c59bb2fc406e6
Autor:
Han Wang, Xiumin Chen, Xiaolu Meng, Yixuan Cao, Shirui Han, Keqiang Liu, Ximeng Zhao, Xiuli Zhao, Xue Zhang
Publikováno v:
Bone Research, Vol 12, Iss 1, Pp 1-12 (2024)
Abstract Syndactyly type V (SDTY5) is an autosomal dominant extremity malformation characterized by fusion of the fourth and fifth metacarpals. In the previous publication, we first identified a heterozygous missense mutation Q50R in homeobox domain
Externí odkaz:
https://doaj.org/article/8653892500fb494fb202a07c940c02be
Autor:
Yixuan Cao, Yi You, Qiong Wang, Xiuzhi Ren, Shan Li, Lulu Li, Weibo Xia, Xin Guan, Tao Yang, Shiro Ikegawa, Zheng Wang, Xiuli Zhao
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-11 (2022)
Abstract Background Hypophosphatemic rickets (HR) is a rare genetic disorder associated with renal phosphate wasting and characterized by bone defects. Inactivating mutations in the phosphate regulating endopeptidase homolog X‑linked gene (PHEX) ac
Externí odkaz:
https://doaj.org/article/a67dc664922741228f6662d46e5d4fb4
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Synpolydactyly (SPD) is caused by mutations in the transcription factor gene HOXD13. Such mutations include polyalanine expansion (PAE), but further study is required for the phenotypic spectrum characteristics of HOXD13 PAE. We investigated four unr
Externí odkaz:
https://doaj.org/article/57d1c2ca592d495da1572a637e0304db
Autor:
Junjie Lei, Yixuan Cao, Jun Wang, Yazhen Chen, Yuanying Peng, Qiwen Shao, Qing Dan, Yichen Xu, Xiaoyong Chen, Peng Dang, Wende Yan
Publikováno v:
Plants, Vol 12, Iss 10, p 1931 (2023)
Forests undergo a long-term development process from young to mature stages, yet the variations in soil nutrients, enzyme activities, microbial diversity, and community composition related to forest ages are still unclear. In this study, the characte
Externí odkaz:
https://doaj.org/article/6c96b12b1f8d46e2966338932bd0d7be
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 5, Pp n/a-n/a (2022)
Abstract Background Spondyloepi(meta)physeal dysplasias (SE[M]D) are a group of inherited skeletal disorders that mainly affect bone and cartilage, and next‐generation sequencing has aided the detection of genetic defects of such diseases. In this
Externí odkaz:
https://doaj.org/article/37b8aa0756514b71b2051d57b6792265
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-11 (2019)
Abstract Background Congenital cataract is a clinically and genetically heterogeneous visual impairment. The aim of this study was to identify causative mutations in five unrelated Chinese families diagnosed with congenital cataracts. Methods Detaile
Externí odkaz:
https://doaj.org/article/669af496f84e465f801d9ad8afe3050f
Autor:
Yixuan Cao, Qiyue Zhang, Jianhua Chen, Zhiqiang Li, Zhaowei Zhou, Jiawei Shen, Dong Wang, Dun Pan, Zhuo Wang, Dandan Ke, Xiaofei Wang, Dajiang Lu, Ying Zhao, Shulin Cheng, Yongyong Shi
Publikováno v:
Hereditas, Vol 156, Iss 1, Pp 1-9 (2019)
Abstract Background Athletic performances are complex traits with heritability of ~66%. Dynamic balance is one of the most important athletic performances, and there has been little studies for it in sports genomics. The candidate PPARD gene was repo
Externí odkaz:
https://doaj.org/article/5b2875a64e12476890c3f32e76a4eb1f
Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta
Autor:
Shan Li, Yixuan Cao, Han Wang, Lulu Li, Xiuzhi Ren, Huan Mi, Yanzhou Wang, Yun Guan, Feiyue Zhao, Bin Mao, Tao Yang, Yi You, Xin Guan, Yujiao Yang, Xue Zhang, Xiuli Zhao
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
Osteogenesis imperfecta (OI) is a rare heritable skeletal disorder which is mainly caused by defected type I collagen. Autosomal recessive OI (AR-OI) is caused by mutations of genes that are responsible for type I collagen modification and folding, a
Externí odkaz:
https://doaj.org/article/d3682e35ac7446f7aaa3bc4f382dd13e
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-11 (2018)
Abstract Background Distal arthrogryposis (DA) is a group of clinically and genetically heterogeneous disorders that involve multiple congenital limb contractures and comprise at least 10 clinical subtypes. Here, we describe our findings in two Chine
Externí odkaz:
https://doaj.org/article/b111ceaaa56944a682083aadde3c22a9