Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Ru-En Yao"'
Autor:
Shiyang Gao, Qianwen Zhang, Yu Ding, Libo Wang, Zhiying Li, Feihan Hu, Ru-en Yao, Tingting Yu, Guoying Chang, Xiumin Wang
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
Abstract Background Bardet-Biedl syndrome (BBS) is a type of non-motile ciliopathy. To date, 26 genes have been reported to be associated with BBS. However, BBS is genetically heterogeneous, with significant clinical overlap with other ciliopathies,
Externí odkaz:
https://doaj.org/article/2eaf7a9dcdbe465184b42f9cf01c5e8d
Autor:
Biyun Feng, Xin Li, Qianwen Zhang, Yirou Wang, Shili Gu, Ru-en Yao, Zhiying Li, Shiyang Gao, Guoying Chang, Qun Li, Niu Li, Lijun Fu, Jian Wang, Xiumin Wang
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)
Abstract Background Cardio-facio-cutaneous (CFC) syndrome is a RASopathy subtype that presents with unique craniofacial dysmorphology, congenital heart disease, dermatologic abnormalities, growth retardation, and intellectual disability. This study d
Externí odkaz:
https://doaj.org/article/d98c01e1529f4d728287ac70ff3d4079
Autor:
Shiyang Gao, Qianwen Zhang, Biyun Feng, Shili Gu, Zhiying Li, Lianping Sun, Ru‐en Yao, Tingting Yu, Yu Ding, Xiumin Wang
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 9, Pp n/a-n/a (2023)
Abstract Background Primary ciliary dyskinesia (PCD) is a type of ciliary dyskinesia that is usually caused by autosomal recessive inheritance and can manifest as recurrent respiratory infections, bronchiectasis, infertility, laterality defects, and
Externí odkaz:
https://doaj.org/article/069dd592a29c40ae959acf1f40a92e17
Autor:
Yu Ding, Zhe Li, Qianwen Zhang, Niu Li, Guoying Chang, Yirou Wang, Xin Li, Juan Li, Qun Li, Ru-en Yao, Xiumin Wang
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
BackgroundWFS1-related disorders involve a wide range of clinical phenotypes, including diabetes mellitus and neurodegeneration. Inheritance patterns of pathogenic variants of this gene can be autosomal recessive or dominant, and differences in penet
Externí odkaz:
https://doaj.org/article/37ff6ffbd9d34a109b85458eb1e13894
Autor:
Yu Ding, Jiande Chen, Yijun Tang, Li-Na Chen, Ru-En Yao, Tingting Yu, Yong Yin, Xiumin Wang, Jian Wang, Niu Li
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
SOX11 is a transcription factor belonging to the sex determining region Y-related high-mobility group box family that plays a vital role in early embryogenesis and neurogenesis. De novo variants in SOX11 have been initially reported to cause a rare n
Externí odkaz:
https://doaj.org/article/bcb4fb7736014f368cfafd65453aaca9
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
Abstract Background Osteopetrosis is characterized by increased bone density and bone marrow cavity stenosis due to a decrease in the number of osteoclasts or the dysfunction of their differentiation and absorption properties usually caused by bialle
Externí odkaz:
https://doaj.org/article/b081c2e76e334c6e83a804ab1ec8098b
Autor:
Niu Li, Yirou Wang, Yu Yang, Pengpeng Wang, Hui Huang, Shiyi Xiong, Luming Sun, Min Cheng, Cui Song, Xinran Cheng, Yu Ding, Guoying Chang, Yao Chen, Yufei Xu, Tingting Yu, Ru-en Yao, Yiping Shen, Xiumin Wang, Jian Wang
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-13 (2018)
Abstract Background Wiedemann–Steiner syndrome (WDSTS) is a rare genetic disorder characterized by facial gestalt, neurodevelopmental delay, skeletal anomalies and growth retardation, which is caused by variation of KMT2A gene. To date, only 2 Chin
Externí odkaz:
https://doaj.org/article/f0d6669fbafe4102b8661ff152c7c733
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:
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:
Xiangyue Zhao, Guoqing Zhang, Shumei Dong, Ru-En Yao, Niu Li, Tingting Yu, Fei Bei, Jian Wang
Publikováno v:
Journal of Laboratory Medicine. 46:369-375
Objectives Glycine decarboxylase gene (GLDC) mutations cause nonketotic hyperglycinemia (NKH). Patients of NKH usually have heterogeneous phenotypes including respiratory failure, lethargy, myoclonic jerks, and hypotonia. The excessive glycine accumu