Zobrazeno 1 - 10
of 113
pro vyhledávání: '"Yeqing Qian"'
Publikováno v:
BMC Pregnancy and Childbirth, Vol 24, Iss 1, Pp 1-6 (2024)
Abstract Background Currently, whole exome sequencing has been performed as a helpful complement in the prenatal setting in case of fetal anomalies. However, data on its clinical utility remain limited in practice. Herein, we reported our data of fet
Externí odkaz:
https://doaj.org/article/479f70b9fd034c07a4ea56ad5cfdadba
Autor:
Yingming Zheng, Chuanping Lin, Wen-Jing Wang, Liya Wang, Yeqing Qian, Luna Mao, Baohua Li, Lijun Lou, Yuchan Mao, Na Li, Jiayong Zheng, Nan Jiang, Chaying He, Qijing Wang, Qing Zhou, Fang Chen, Fan Jin
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-11 (2024)
Abstract The analysis of genomic variations in offspring after implantation has been infrequently studied. In this study, we aim to investigate the extent of de novo mutations in humans from developing fetus to birth. Using high-depth whole-genome se
Externí odkaz:
https://doaj.org/article/176bd970e7e9408298a768348a551c37
Autor:
Lihong Fan, Haibo Li, Ying Xu, Yingzhi Huang, Yeqing Qian, Pengzhen Jin, Xueping Shen, Zhi Li, Mingsong Liu, Yufei Liang, Guosong Shen, Minyue Dong
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-7 (2024)
Abstract Background TTN is a complex gene with large genomic size and highly repetitive structure. Pathogenic variants in TTN have been reported to cause a range of skeletal muscle and cardiac disorders. Homozygous or compound heterozygous mutations
Externí odkaz:
https://doaj.org/article/a5fe0de952454c16b29b2fcdd9e03b55
Publikováno v:
Journal of International Medical Research, Vol 52 (2024)
The morphology of the choriocarcinomatous variant of cervical squamous cell carcinoma (SCC) suggests an undifferentiated aggressive biological behaviour and a poor outcome, for which standard treatment has not been established. In addition, cases are
Externí odkaz:
https://doaj.org/article/c1c778d6e4654b82a3cd76cddc9dedd2
Autor:
Liya Wang, Wenshan Zeng, Yeqing Qian, Yixi Sun, Min Chen, Bei Liu, Junjie Hu, Ping Yu, Minyue Dong
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 7, Pp n/a-n/a (2024)
Abstract Background Synonymous variants are non‐pathogenic due to non‐substitution of amino acids. However, synonymous exonic terminal nucleotide substitutions may affect splicing. Splicing variants are easily analyzed at RNA level for genes expr
Externí odkaz:
https://doaj.org/article/6f4cba715eea42ca9af755ba0ed8026e
Autor:
Yeqing Qian, Jianjun Zhu, Zhiguo Tang, Yan Sun, Zhonghua Wang, Fei Tang, Yun Yang, Linlin Fan, Yixi Sun, Bei Liu, Min Chen, Yuqin Luo, Junjie Hu, Kai Yan, Jianfen Man, Lina Wang, Cangcang Jia, Ping Tang, Xinyi Zhu, Chaohong Wang, Junxiang Tang, Yuanyuan Xia, Xueqin Guo, Kang Zhang, Xiaoli Wang, Suping Li, Lijie Song, Jiansheng Zhu, Minyue Dong
Publikováno v:
Clinical and Translational Medicine, Vol 14, Iss 7, Pp n/a-n/a (2024)
Externí odkaz:
https://doaj.org/article/d3cc505edba54578a0be910ab2417134
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
IntroductionMutations of LAMA2 gene are associated with congenital muscular dystrophy (CMD). The LAMA2-related CMD mainly consists of two diseases, merosin deficient congenital muscular dystrophies type 1A (MDC1A) and limb girdle muscular dystrophy 2
Externí odkaz:
https://doaj.org/article/1315f07e09c84206ac580978173d65d4
Autor:
Minyue Tang, Long Bai, Zhe Wan, Shan Wan, Yu Xiang, Yeqing Qian, Long Cui, Jiali You, Xiaoling Hu, Fan Qu, Yimin Zhu
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 26, Iss , Pp 1433-1445 (2021)
Unexplained recurrent spontaneous abortion (URSA) is one of the most intractable clinical challenges in reproduction. As a specific type of endogenous non-coding RNA, circular RNAs (circRNAs) have great pre-clinical diagnostic and therapeutic values
Externí odkaz:
https://doaj.org/article/c7045724a6cc4132811b7368f81b25c0
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Mutations of the Regulatory Factor X5 (RFX5) have been associated with the autosomal recessive major histocompatibility class II (MHC-II) deficiency, which is a severe immunodeficiency characterized by constitutive and interferon-gamma induced MHC II
Externí odkaz:
https://doaj.org/article/f2534278a2784db49f7c0cb41ba39880
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Tetrasomy 9p is a rare syndrome characterized by fetal growth restriction, Dandy-Walker malformation, cardiac anomalies, and facial abnormalities and is discovered by ultrasound during the prenatal examination. Herein, we report a fetus of tetrasomy
Externí odkaz:
https://doaj.org/article/162d4d57a1b0474cbd64adbc6db2e70c