Zobrazeno 1 - 10
of 90
pro vyhledávání: '"Yongnian Shen"'
Autor:
Guoying Chang, Lingwen Ying, Qianwen Zhang, Biyun Feng, Ruen Yao, Yu Ding, Juan Li, Xiaodong Huang, Yongnian Shen, Tingting Yu, Jian Wang, Xiumin Wang
Publikováno v:
BMC Endocrine Disorders, Vol 24, Iss 1, Pp 1-6 (2024)
Abstract Background ABCC8 variants can cause hyperinsulinemia by activating or deactivating gene expression. This study used targeted exon sequencing to investigate genetic variants of ABCC8 and the associated phenotypic features in Chinese patients
Externí odkaz:
https://doaj.org/article/7703f98d562c4ce492db922700c8620a
Autor:
Guoying Chang, Qun Li, Niu Li, Guoqiang Li, Juan Li, Yu Ding, Xiaodong Huang, Yongnian Shen, Jian Wang, Xiumin Wang
Publikováno v:
BMC Endocrine Disorders, Vol 22, Iss 1, Pp 1-8 (2022)
Abstract Background The GNAS gene on chromosome 20q13.3, encodes the alpha-subunit of the stimulatory G protein, which is expressed in most tissues and regulated through reciprocal genomic imprinting. Disorders of GNAS inactivation produce several di
Externí odkaz:
https://doaj.org/article/0b1389ec728e4e308d933476e75aee0e
Autor:
Yanjie Fan, Yanming Wu, Lili Wang, Yu Wang, Zhuwen Gong, Wenjuan Qiu, Jingmin Wang, Huiwen Zhang, Xing Ji, Jun Ye, Lianshu Han, Xingming Jin, Yongnian Shen, Fei Li, Bing Xiao, Lili Liang, Xia Zhang, Xiaomin Liu, Xuefan Gu, Yongguo Yu
Publikováno v:
BMC Medical Genomics, Vol 11, Iss 1, Pp 1-8 (2018)
Abstract Background Developmental delay (DD) and intellectual disability (ID) are frequently associated with a broad spectrum of additional phenotypes. Chromosomal microarray analysis (CMA) has been recommended as a first-tier test for DD/ID in gener
Externí odkaz:
https://doaj.org/article/f76a1f8f09634002a0986fb71b802609
Autor:
Dongmei Shi, Wei Zhang, Guixia Lu, G. Sybren de Hoog, Guanzhao Liang, Huan Mei, Hailin Zheng, Yongnian Shen, Weida Liu
Publikováno v:
Medical Mycology Case Reports, Vol 11, Iss C, Pp 57-60 (2016)
Chromoblastomycosis is caused by dematiaceous fungi. It develops after inoculation of the organism into the skin. We report a case of chromoblastomycosis in a pulmonary tuberculosis patient without known history of trauma. The lesions were initially
Externí odkaz:
https://doaj.org/article/9c0d4d9aee9243dca9ae78b26511cab3
Autor:
Dongmei Shi, Guixia Lu, Huan Mei, G. Sybren de Hoog, Kittipan Samerpitak, Shuwen Deng, Yongnian Shen, Weida Liu
Publikováno v:
Medical Mycology Case Reports, Vol 11, Iss C, Pp 44-47 (2016)
Recently, the taxonomy of Ochroconis (Ascomycota, Pezizomycotina, Venturiales, Sympoventuriaceae) has been revised with the recognition of an additional genus, Verruconis. Ochroconis comprises mesophilic saprobes that occasionally infect vertebrates
Externí odkaz:
https://doaj.org/article/4b064aad65ab4235b79cbd10bb4f51ce
Autor:
Haiou Yang, Lili Wang, Juan Geng, Tingting Yu, Ru-en Yao, Yongnian Shen, Lei Yin, Daming Ying, Rongkui Huang, Yunfang Zhou, Huijin Chen, Lanbo Liu, Xi Mo, Yiping Shen, Qihua Fu, Yongguo Yu
Publikováno v:
Cellular Physiology and Biochemistry, Vol 32, Iss 3, Pp 635-644 (2013)
Aims: Hypophosphatasia, a rare inherited disease characterized by defective mineralization of bone and teeth, is caused by various mutations in the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP) gene. Our aim was to determine the mutat
Externí odkaz:
https://doaj.org/article/d7abe83fc69e4dc4a0df770464cf06dc
Autor:
Jian Wang, Tingting Yu, Lei Yin, Jing Li, Li Yu, Ye Shen, Yongguo Yu, Yongnian Shen, Qihua Fu
Publikováno v:
PLoS ONE, Vol 8, Iss 6, p e65676 (2013)
Pseudohypoaldosteronism type 1 (PHA1) is a rare inherited disease characterized by resistance to the actions of aldosterone. Mutations in the subunit genes (SCNN1A, SCNN1B, SCNN1G) of the epithelial sodium channel (ENaC) and the NR3C2 gene encoding t
Externí odkaz:
https://doaj.org/article/341594c13dce479c8713f20ea2f77e03
Autor:
Zhaojing Zheng, Li Hong, Xiaodong Huang, Peirong Yang, Juan Li, Yu Ding, Ru-En Yao, Juan Geng, Yongnian Shen, Yiping Shen, Qihua Fu, Yongguo Yu
Publikováno v:
PLoS ONE, Vol 8, Iss 6, p e67039 (2013)
To investigate potential functional variants in FTO and SH2B1 genes among Chinese children with obesity.Sanger sequencing of PCR products of all FTO and SH2B1 exons and their flanking regions were performed in 338 Chinese Han children with obesity an
Externí odkaz:
https://doaj.org/article/0a483747ef3345fdbf317da661905895
Autor:
Xiaodong Huang, Zhaohui Lu, Zhongwei Lv, Tingting Yu, Peirong Yang, Yongnian Shen, Yu Ding, Da Fu, Xiaoping Zhang, Qihua Fu, Yongguo Yu
Publikováno v:
PLoS ONE, Vol 8, Iss 8, p e71553 (2013)
Phenylketonuria (PKU), an autosomal recessive disorder of amino acid metabolism caused by mutations in the phenylalanine hydroxylase (PAH) gene, leads to childhood mental retardation by exposing neurons to cytotoxic levels of phenylalanine (Phe). A r
Externí odkaz:
https://doaj.org/article/42d95a12311c4c13886aaaa379008ed1
Autor:
Guoying Chang, Qun Li, Niu Li, Guoqiang Li, Juan Li, Yu Ding, Xiaodong Huang, Yongnian Shen, Jian Wang, Xiumin Wang
Publikováno v:
BMC endocrine disorders. 22(1)
Background The GNAS gene on chromosome 20q13.3, encodes the alpha-subunit of the stimulatory G protein, which is expressed in most tissues and regulated through reciprocal genomic imprinting. Disorders of GNAS inactivation produce several different c