Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Junhuang, Zou"'
Autor:
Pranav Dinesh Mathur, Junhuang Zou, Grace Neiswanger, Daniel Zhu, Yong Wang, Ali A. Almishaal, Deepti Vashist, H. Kirk Hammond, Albert H. Park, Jun Yang
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-14 (2023)
Abstract Adenylyl cyclase 6 (AC6) synthesizes second messenger cAMP in G protein-coupled receptor (GPCR) signaling. In cochlear hair cells, AC6 distribution relies on an adhesion GPCR, ADGRV1, which is associated with Usher syndrome (USH), a conditio
Externí odkaz:
https://doaj.org/article/d1181653922045a4994d88fa65149e00
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 18, Iss , Pp 1363-1382 (2020)
Usherin is the most common causative protein associated with autosomal recessive retinitis pigmentosa (RP) and Usher syndrome (USH), which are characterized by retinal degeneration alone and in combination with hearing loss, respectively. Usherin is
Externí odkaz:
https://doaj.org/article/5b7b34cd5fff4ced8fb4630e08ffd370
Autor:
Van Phuc Nguyen, Jun Song, Diane Prieskorn, Junhuang Zou, Yanxiu Li, David Dolan, Jie Xu, Jifeng Zhang, K. Thiran Jayasundera, Jun Yang, Yehoash Raphael, Naheed Khan, Michael Iannuzzi, Charles Bisgaier, Y. Eugene Chen, Yannis M. Paulus, Dongshan Yang
Publikováno v:
Translational Vision Science & Technology. 12:26
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5a243cc490e924dd6e403fe7a5dbcb69
https://doi.org/10.1167/tvst.12.2.26
https://doi.org/10.1167/tvst.12.2.26
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 18, Iss, Pp 1363-1382 (2020)
Usherin is the most common causative protein associated with autosomal recessive retinitis pigmentosa (RP) and Usher syndrome (USH), which are characterized by retinal degeneration alone and in combination with hearing loss, respectively. Usherin is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2968f020a6d15b7d524cecd1d3a3a1da
https://doi.org/10.1016/j.csbj.2020.05.025
https://doi.org/10.1016/j.csbj.2020.05.025
Publikováno v:
Advances in experimental medicine and biology. 1185
Mutations in USH2A, ADGRV1, and WHRN genes cause Usher syndrome type 2 (USH2) and retinitis pigmentosa (RP). The proteins encoded by these genes form the periciliary membrane complex (PMC) in photoreceptors. Unlike patients, who show retinal degenera
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c1115d984ed1de53a63dc250f06e1162
https://pubmed.ncbi.nlm.nih.gov/31884668
https://pubmed.ncbi.nlm.nih.gov/31884668
Publikováno v:
Retinal Degenerative Diseases ISBN: 9783030273774
Mutations in USH2A, ADGRV1, and WHRN genes cause Usher syndrome type 2 (USH2) and retinitis pigmentosa (RP). The proteins encoded by these genes form the periciliary membrane complex (PMC) in photoreceptors. Unlike patients, who show retinal degenera
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5f6786cb4852214799c60f22eaa38ee2
https://doi.org/10.1007/978-3-030-27378-1_89
https://doi.org/10.1007/978-3-030-27378-1_89
Autor:
Ali Sakawa Sharif, Kevin Nguyen, Ekaterina S. Lobanova, Anna M. Clark, Pranav Dinesh Mathur, Stuart Loertscher, Richard Austin, Dongmei Yu, Vadim Y. Arshavsky, Jun Yang, Junhuang Zou
Publikováno v:
The Journal of neuroscience : the official journal of the Society for Neuroscience. 38(13)
C8ORF37is a causative gene for three different clinical forms of incurable retinal degeneration. However, the completely unknown function ofC8ORF37limits our understanding of the pathogenicity ofC8ORF37mutations. Here, we performed a comprehensive ph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::875adb5b32c0e2fcb8f76d5fbf077245
https://pubmed.ncbi.nlm.nih.gov/29440555
https://pubmed.ncbi.nlm.nih.gov/29440555
Publikováno v:
Journal of Biological Chemistry. 289:36070-36088
Usher syndrome (USH) is the leading genetic cause of combined hearing and vision loss. Among the three USH clinical types, type 2 (USH2) occurs most commonly. USH2A, GPR98, and WHRN are three known causative genes of USH2, whereas PDZD7 is a modifier
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03367f1376ac7826fc1b0eeda760164d
https://doi.org/10.1074/jbc.m114.610535
https://doi.org/10.1074/jbc.m114.610535
Autor:
Jeffrey R. Holt, Jun Yang, Tihua Zheng, Xiao Ping Liu, Yong Wang, Junhuang Zou, Bifeng Pan, Charles Askew, Chongyu Ren
Publikováno v:
Human Molecular Genetics. 23:2374-2390
Usher syndrome type 2 (USH2) is the predominant form of USH, a leading genetic cause of combined deafness and blindness. PDZD7, a paralog of two USH causative genes, USH1C and USH2D (WHRN), was recently reported to be implicated in USH2 and non-syndr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fb78a644821ccf223d3899251f5b01d
https://doi.org/10.1093/hmg/ddt629
https://doi.org/10.1093/hmg/ddt629
Autor:
Tihua Zheng, Qian Chen, Pranav Dinesh Mathur, Junhuang Zou, Qing Yin Zheng, Jun Yang, Cong Tian, Ali Almishaal
Publikováno v:
Human molecular genetics. 26(3)
Usher syndrome (USH) is the most common cause of inherited deaf-blindness, manifested as USH1, USH2 and USH3 clinical types. The protein products of USH2 causative and modifier genes, USH2A, ADGRV1, WHRN and PDZD7, interact to assemble a multiprotein
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a26ed1d9413ed67aafc8dd01f07bc27b
https://pubmed.ncbi.nlm.nih.gov/28031293
https://pubmed.ncbi.nlm.nih.gov/28031293