Zobrazeno 1 - 10
of 187
pro vyhledávání: '"Yingjun, Xie"'
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)
Abstract Hepatolenticular degeneration (HLD), also known as Wilson's disease (WD), is a rare autosomal recessive disorder regarding copper metabolism. Whether gut microbiota imbalance is involved in developing HLD remains unknown. A comprehensive 16S
Externí odkaz:
https://doaj.org/article/f2201495b7de446ba653d29af30fc2f2
Autor:
Ruijue Zhu, Mingming Zhu, Boye Wang, Enen Chen, Danlei Cai, Yinghong Yang, Yi Liang, Chuqi Su, Ding Wang, Xiaofang Sun, Linhuan Huang, Yingjun Xie
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-7 (2024)
Abstract Introduction Dent disease type I is a rare X-linked recessive renal tubular disease resulting from pathogenic variants in the CLCN5 gene. Due to the rarity of Dent disease type I and the diversity of its phenotypes, its clinical diagnosis is
Externí odkaz:
https://doaj.org/article/24b2b46efe41447c85ae44857f855aa3
Autor:
Lihong Huang, Zhifa Li, Mengru Jian, Xiaobing Wu, Huixian Chen, Haifeng Qin, Ziqiao Li, Shixi Song, Yingjun Xie, Rong Chen
Publikováno v:
World Journal of Surgical Oncology, Vol 21, Iss 1, Pp 1-8 (2023)
Abstract Background Frailty is considered a characteristic manifestation of physiological decline in multiple organ systems, which significantly increases the vulnerability of elderly individuals with colorectal cancer (CRC) and is associated with a
Externí odkaz:
https://doaj.org/article/6471dfe9e27a4a5096794d784a601e9a
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2024)
β-thalassemia (β-thal) is the most common monogenic disorder caused by various mutations in the human hemoglobin β (HBB) gene and affecting millions of people worldwide. Electroporation of Cas9 and single-guide RNA (sgRNA)–ribonucleoprotein (RNP
Externí odkaz:
https://doaj.org/article/d0183e9009904278b419d0094cf88acc
Autor:
Xiao He, Juan Kuang, Jiahong Lai, Jingxiong Huang, Yijin Wang, Guofeng Lan, Yingjun Xie, Xuekai Shi
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-10 (2023)
Abstract Inborn errors of metabolism (IEM) can lead to severe motor and neurological developmental disorders and even disability and death in children due to untimely treatment. In this study, we used tandem mass spectrometry (MS/MS) for primary scre
Externí odkaz:
https://doaj.org/article/32278373f17444778be7153fcdb380b0
Autor:
Jianlong Zhuang, Meihua Xie, Jianfeng Yao, Wanyu Fu, Shuhong Zeng, Yuying Jiang, Yuanbai Wang, Yingjun Xie, Gaoxiong Wang, Chunnuan Chen
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-7 (2023)
Abstract Background Pathogenic PAK1 variants were described to be causative of neurodevelopmental disorder with macrocephaly, seizures, and speech delay. Herein, we present a de novo PAK1 variant combine with a de novo terminal 1q microdeletion in a
Externí odkaz:
https://doaj.org/article/c16396bd143142d8ae04ff444db53b63
Akademický článek
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Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-8 (2022)
Abstract Determining the associated relationship of genotype and phenomenon would benefit the understanding of disease and renew disease intervention means. 14,518 patients who underwent haemoglobin electrophoresis from June 2020 to December 2020 wer
Externí odkaz:
https://doaj.org/article/adcc78d4c57c4410884456ed56edf068
Autor:
Jianlong Zhuang, Chunnuan Chen, Hegan Zhang, Wanyu Fu, Yanqing Li, Yuying Jiang, Shuhong Zeng, Xiaoxia Wu, Yingjun Xie, Gaoxiong Wang
Publikováno v:
Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-7 (2022)
Abstract Background Partial trisomy 13q is a less common chromosomal abnormality with a great clinical variability, among them, isolated partial trisomy 13q is extremely rare. Here, we report two new unrelated cases of partial trisomy 13q in Chinese
Externí odkaz:
https://doaj.org/article/b51de13cba9143fbadb97307ac1406d4
Autor:
Jianlong Zhuang, Chunnuan Chen, Rongfu Huang, Qi Luo, Yuying Jiang, Shuhong Zeng, Yuanbai Wang, Yingjun Xie
Publikováno v:
Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-6 (2022)
Abstract Background Chromosome aberrations of 10p monosomy and 10q trisomy resulting from parental pericentric inversion 10 are extremely rare, and to date, very few reports have been published on the matter. Case Presentation A 30-year-old pregnant
Externí odkaz:
https://doaj.org/article/5871e59a0cc3452bbd8833694698c075