Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Liangwei Mao"'
Autor:
Yanqiu Liu, Liangwei Mao, Hui Huang, Wei Li, Jianfen Man, Wenqian Zhang, Lina Wang, Long Li, Yan Sun, Teng Zhai, Xueqin Guo, Lique Du, Jin Huang, Hao Li, Yang Wan, Xiaoming Wei
Publikováno v:
Human Genome Variation, Vol 10, Iss 1, Pp 1-43 (2023)
Abstract Most variations in the human genome refer to single-nucleotide variation (SNV), small fragment insertions and deletions, and genomic copy number variation (CNV). Many human diseases including genetic disorders are associated with variations
Externí odkaz:
https://doaj.org/article/1714d41afc0d4a33a325a0fab8a74cb5
Publikováno v:
Frontiers in Microbiology, Vol 12 (2021)
Gastrointestinal dysfunction plays an important role in the occurrence and development of Parkinson’s disease (PD). This study investigates the composition of the gut microbiome using shotgun metagenomic sequencing in PD patients in central China.
Externí odkaz:
https://doaj.org/article/a14ed6d8125c4b0493f83fda19877b4a
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019)
Abstract Background Oculocutaneous albinism (OCA) is a group of rare genetically heterogeneous disorders. The present study aimed to identify the genetic cause of a Chinese Han family with non-syndromic oculocutaneous albinism (OCA). Case presentatio
Externí odkaz:
https://doaj.org/article/f407d6ed6fda470b9a9d9392c82c6786
Autor:
Lijing Shi, Hui Huang, Qiuxia Jiang, Rongsen Huang, Wanyu Fu, Liangwei Mao, Xiaoming Wei, Huanhuan Cui, Keke Lin, Licheng Cai, You Yang, Yuanbai Wang, Jing Wu
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
Syndactyly is one of the most frequent hereditary limb malformations with clinical and genetical complexity. Autosomal dominant syndactyly type IV (SD4) is a rare form of syndactyly, caused by heterozygous mutations in a sonic hedgehog (SHH) regulato
Externí odkaz:
https://doaj.org/article/d5ceff66bffa42a4a16c4bae1306ef07
Autor:
Yueju Zhao, Yunhua Zhang, Yang Cao, Jianxun Qi, Liangwei Mao, Yanfen Xue, Feng Gao, Hao Peng, Xiaowei Wang, George F Gao, Yanhe Ma
Publikováno v:
PLoS ONE, Vol 6, Iss 1, p e14608 (2011)
Significant progress has been made in isolating novel alkaline β-mannanases, however, there is a paucity of information concerning the structural basis for alkaline tolerance displayed by these β-mannanases. We report the catalytic domain structure
Externí odkaz:
https://doaj.org/article/35b533dcd489420b977445527f302821
Autor:
Yu Qiu, Liangwei Mao, Shiping Chen, Hao Li, Hairong Wang, Liping Guan, Jin Huang, Xuan Wu, Yu Liu, Jie Xiao, Yuan Fang
Publikováno v:
Journal of Women's Health and Development.
Background: To evaluate the prevalence of alpha- and beta-thalassemia in Ji'an City, Jiangxi Province, 28,941 people in the region were genetically screened to identify various thalassemia genotypes. Methods: High-throughput amplicon sequencing and g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::211f88a1bcb74a170cccb8bf9b9f5503
https://doi.org/10.26502/fjwhd.2644-28840081
https://doi.org/10.26502/fjwhd.2644-28840081
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019)
BMC Medical Genetics
BMC Medical Genetics
Background Oculocutaneous albinism (OCA) is a group of rare genetically heterogeneous disorders. The present study aimed to identify the genetic cause of a Chinese Han family with non-syndromic oculocutaneous albinism (OCA). Case presentation Here, w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84fe164208ee50597cb0e1a56c7f7ef1
https://doi.org/10.1186/s12881-019-0850-7
https://doi.org/10.1186/s12881-019-0850-7
Autor:
Xueqin Guo, Yan Sun, Hui Huang, Lina Wang, Wenqian Zhang, Xiaoming Wei, Wei Li, Yang Wan, Liangwei Mao, Lique Du, Hao Li, Long Li, Yanqiu Liu, Teng Zhai, Huang Jin, Jianfen Man
Most of the variation in the human genome is a single nucleotide variation (SNV) based on a single base or small fragment insertions and deletions and genomic copy number variation (CNV). Both types of mutations are involved in many human diseases. S
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::201673bdc588ae75b8c2736de6e6a660
Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform
Autor:
Jianfen Man, Chengbin Yan, Jing Yuan, Yun Yang, Limin Wu, Xuan Wu, Weijun Pan, Lique Du, Liangwei Mao, Xiaoli Cui, Yan Sun, Wei Li, Karsten Kristiansen, Min Li
Publikováno v:
Medicine
Sun, Y, Yuan, J, Wu, L, Li, M, Cui, X, Yan, C, Du, L, Mao, L, Man, J, Li, W, Kristiansen, K, Wu, X, Pan, W, Yang, Y & Yang, Y 2019, ' Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform ', Medicine, vol. 98, no. 12, e14860, pp. 1-7 . https://doi.org/10.1097/MD.0000000000014860
Sun, Y, Yuan, J, Wu, L, Li, M, Cui, X, Yan, C, Du, L, Mao, L, Man, J, Li, W, Kristiansen, K, Wu, X, Pan, W, Yang, Y & Yang, Y 2019, ' Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform ', Medicine, vol. 98, no. 12, e14860, pp. 1-7 . https://doi.org/10.1097/MD.0000000000014860
Supplemental Digital Content is available in the text
Hearing loss is a highly heterogeneous disease presented with various phenotypes. Genetic testing of disease-causing mutations plays an important role in precise diagnosis and fertility guida
Hearing loss is a highly heterogeneous disease presented with various phenotypes. Genetic testing of disease-causing mutations plays an important role in precise diagnosis and fertility guida
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c46ba025a93c5a39ef89333e515c26c1
http://europepmc.org/articles/PMC6709004
http://europepmc.org/articles/PMC6709004
Autor:
Hairong Wang, Wan, Yang, Yang, Yun, Li, Hao, Liangwei Mao, Shuyang Gao, Jingjing Xu, Wang, Jing
The list of 54 genes causing hereditary eye diseases. (DOCX 19Â kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d4ddbd3d8e7b5d201879e9d247d8695