Exome sequencing and functional analysis identifies a novel mutation in EXT1 gene that causes multiple osteochondromas.

Autor: Feng Zhang, Jinlong Liang, Xiong Guo, Yingang Zhang, Yan Wen, Qiang Li, Zengtie Zhang, Weijuan Ma, Lanlan Dai, Xuanzhu Liu, Ling Yang, Jun Wang

Publikováno v: PLoS ONE, Vol 8, Iss 8, p e72316 (2013)

Multiple osteochondromas (MO) is an inherited skeletal disorder, and the molecular mechanism of MO remains elusive. Exome sequencing has high chromosomal coverage and accuracy, and has recently been successfully used to identify pathogenic gene mutat

Externí odkaz: https://doaj.org/article/f2a1b3303cbd4e3b800f2d2c925e4aba

Corn bracts loading copper sulfide for rapid adsorption of Hg(II) and sequential efficient reuse as a photocatalyst

Autor: Shuangying Hu, Lanlan Dai, Guiyang Yan, Jiwei Wang, Heli Yin, Minghui Yang, Aikebaier Reheman

Publikováno v: Water Science and Technology, Vol 83, Iss 12, Pp 2921-2930 (2021)

Hg(II) ions in wastewater are highly toxic to the environment and human health, yet many materials to remove the ions exhibit lower adsorption efficiency, and few studies report the reuse of Hg(II)-loaded waste materials. Here, a cheap and efficient

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8adbd0ecbd9e6ef113898447f5aaafe
https://doi.org/10.2166/wst.2021.181

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

Autor: Mette Bertelsen, Cathrine Jespersgaard, Lanlan Dai, Hanne Jensen, Yulan Chen, Karen Grønskov, Karen Brøndum-Nielsen, Jianguo Zhang, Niels Bech, Thomas Rosenberg, Lisbeth Birk Møller, Mingyan Fang, Zeynep Tümer, Xiao Dang

Publikováno v: Jespersgaard, C, Fang, M, Bertelsen, M, Dang, X, Jensen, H, Chen, Y, Bech, N, Dai, L, Rosenberg, T, Zhang, J, Møller, L B, Tümer, Z, Brøndum-Nielsen, K & Grønskov, K 2019, ' Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy ', Scientific Reports, vol. 9, no. 1, 1219 . https://doi.org/10.1038/s41598-018-38007-2
Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-7 (2019)

Inherited retinal diseases (IRDs) are a common cause of visual impairment. IRD covers a set of genetically highly heterogeneous disorders with more than 150 genes associated with one or more clinical forms of IRD. Molecular genetic diagnosis has beco

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46b7bf99606dcb95bb273244cace9361
https://curis.ku.dk/portal/da/publications/molecular-genetic-analysis-using-targeted-ngs-analysis-of-677-individuals-with-retinal-dystrophy(11a97061-3032-4eca-8420-0ef2aa998e4c).html

Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis

Autor: Huijun Wang, Jinghua Yin, Jianguo Zhang, Xu Cao, Lanlan Dai, Liu Xuanzhu, Zhimiao Lin, Lina Duo, Jie Zhang, Jiahui Zhao, Yong Yang, Zhanli Tang

Publikováno v: Gene. 566:84-88

As a powerful tool to identify the molecular pathogenesis of Mendelian disorders, exome sequencing was used to identify the genetic basis of two siblings with hearing loss and hypotrichosis and clarify the diagnosis. No pathogenic mutations in GJB2,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::879657bd24366ddfb448f495cf944cb1
https://doi.org/10.1016/j.gene.2015.04.039

Mutation in AQP5, Encoding Aquaporin 5, Causes Palmoplantar Keratoderma Bothnia Type

Autor: Hui Jiang, Jie Zhang, Xu Cao, Jinghua Yin, Zhimiao Lin, Jianguo Zhang, Lanlan Dai, Yong Yang, Jiahui Zhao, Huijun Wang

Publikováno v: Journal of Investigative Dermatology. 134(1):284-287

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b03ab799d6a4e7706f83167ff961fd60