Cross-Sectional Study on the Gut Microbiome of Parkinson’s Disease Patients in Central China

Autor: Liangwei Mao, Yu Zhang, Jing Tian, Ming Sang, Guimin Zhang, Yuling Zhou, Puqing Wang

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

Sub-Exome Target Sequencing in a Family With Syndactyly Type IV Due to a Novel Partial Duplication of the LMBR1 Gene: First Case Report in Fujian Province of China

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

[Application of copy number variation sequencing combined with short tandem repeat in analysis of abortion and prenatal diagnosis]

Autor: Yuanbao, Zhang, Xiaolian, Xu, Cun, Huang, Yong, Li, Xinzhe, Hong, Liangwei, Mao, Jiong, Gao, Weijun, Pan

Publikováno v: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 38(6)

To explore the cause of abortion and strategy of prenatal diagnosis for pregnant women with high risk for chromosomal abnormalities by using copy number variation sequencing (CNV-seq) and short tandem repeats (STR) analysis.A total of 36 samples were

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::529cdf588c65dfb436cd00261eebfbae
https://pubmed.ncbi.nlm.nih.gov/34096030

Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report

Autor: Jing Wang, Jingjing Xu, Yang Wan, Yun Yang, Liangwei Mao, Shuyang Gao, Hai-rong Wang, Hao Li

Publikováno v: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019)
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

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

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c46ba025a93c5a39ef89333e515c26c1
http://europepmc.org/articles/PMC6709004