Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Susan N Bolch"'
Publikováno v:
PLoS ONE, Vol 11, Iss 2, p e0148773 (2016)
PURPOSE:Bardet-Biedl syndrome is a complex ciliopathy that usually manifests with some form of retinal degeneration, amongst other ciliary-related deficiencies. One of the genetic causes of this syndrome results from a defect in Bardet-Biedl Syndrome
Externí odkaz:
https://doaj.org/article/1a739a90ec1145d5a8331fdc54dbaad3
Autor:
Lei Xu, William N. Ruddick, Susan N. Bolch, Mikael Klingeborn, Frank M. Dyka, Manoj M. Kulkarni, Chiab P. Simpson, William A. Beltran, Catherine Bowes Rickman, W. Clay Smith, Astra Dinculescu
Publikováno v:
The American Journal of Pathology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3630ed6769ffec2b0bff818b8a0242c6
https://doi.org/10.1016/j.ajpath.2022.10.004
https://doi.org/10.1016/j.ajpath.2022.10.004
Autor:
Lei, Xu, William N, Ruddick, Susan N, Bolch, Mikael, Klingeborn, Frank M, Dyka, Manoj M, Kulkarni, Chiab P, Simpson, William A, Beltran, Catherine, Bowes Rickman, W Clay, Smith, Astra, Dinculescu
Publikováno v:
The American journal of pathology.
A pathologic feature of late-onset retinal degeneration caused by the S163R mutation in C1q-tumor necrosis factor-5 (C1QTNF5) is the presence of unusually thick deposits between the retinal pigmented epithelium (RPE) and the vascular choroid, conside
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2bf89b932a5ab3dfe23d6cd49a638831
https://pubmed.ncbi.nlm.nih.gov/36328299
https://pubmed.ncbi.nlm.nih.gov/36328299
Autor:
Chiab P, Simpson, Susan N, Bolch, Ping, Zhu, Frances, Weidert, Astra, Dinculescu, Ekaterina S, Lobanova
Publikováno v:
Advances in experimental medicine and biology. 1185
Mutations in more than 80 genes lead to photoreceptor degeneration. Although subretinal delivery of genes to photoreceptor neurons using AAV vectors has proven itself as an efficient therapeutic and investigative tool in various mouse models, the sur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1dced647444ddeea106d0dd5048a2111
https://pubmed.ncbi.nlm.nih.gov/31884597
https://pubmed.ncbi.nlm.nih.gov/31884597