Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Frank M. Dyka"'
Autor:
Yixiao Wang, Silke Becker, Stella Finkelstein, Frank M. Dyka, Haitao Liu, Mark Eminhizer, Ying Hao, Richard S. Brush, William J. Spencer, Vadim Y. Arshavsky, John D. Ash, Jianhai Du, Martin-Paul Agbaga, Frans Vinberg, Jessica M. Ellis, Ekaterina S. Lobanova
Publikováno v:
Communications Biology, Vol 7, Iss 1, Pp 1-11 (2024)
Abstract The retina is light-sensitive neuronal tissue in the back of the eye. The phospholipid composition of the retina is unique and highly enriched in polyunsaturated fatty acids, including docosahexaenoic fatty acid (DHA). While it is generally
Externí odkaz:
https://doaj.org/article/ad85367e74fe4ef684827fbc22b57206
Autor:
Christine N. Kay, Renee C. Ryals, George V. Aslanidi, Seok Hong Min, Qing Ruan, Jingfen Sun, Frank M. Dyka, Daniel Kasuga, Andrea E. Ayala, Kim Van Vliet, Mavis Agbandje-McKenna, William W. Hauswirth, Sanford L. Boye, Shannon E. Boye
Publikováno v:
PLoS ONE, Vol 8, Iss 9 (2013)
Externí odkaz:
https://doaj.org/article/1e7d397ee6504d4991261a14ef4ad389
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.
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
Autor:
Lei Xu, Omar Akil, William W. Hauswirth, Seth Blackshaw, Clayton Santiago, Frank M. Dyka, John D. Ash, Susan Bolch, Kirill A. Martemyanov, James T. Handa, Astra Dinculescu, W. Clay Smith, Ekaterina S. Lobanova, Yuchen Wang
Publikováno v:
The Journal of Pathology
Usher syndrome type 3 (USH3) is an autosomal recessively inherited disorder caused by mutations in the gene clarin‐1 (CLRN1), leading to combined progressive hearing loss and retinal degeneration. The cellular distribution of CLRN1 in the retina re
Publikováno v:
Human Gene Therapy. 30:1361-1370
Autosomal recessive Stargardt disease is the most common inherited macular degeneration in humans. It is caused by mutations in the retina-specific ATP binding cassette transporter A4 (ABCA4) that ...
Autor:
Ling Yin, William W. Hauswirth, Ping Zhu, Xiaojie Ma, Heather Yu, Wen-Tao Deng, Wolfgang Baehr, Frank M. Dyka
Publikováno v:
FASEB J
Cone photoreceptors are responsible for the visual acuity and color vision of the human eye. Red/green cone opsin missense mutations N94K, W177R, P307L, R330Q, and G338E have been identified in subjects with congenital blue cone monochromacy or color
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aac9141b68f918e5c47fb5bc105c8e82
https://europepmc.org/articles/PMC8462070/
https://europepmc.org/articles/PMC8462070/
Autor:
Omar Akil, Saaid Safieddine, Jacques Boutet de Monvel, Charlotte Calvet, Frank M. Dyka, Ghizlene Lahlou, Sylvie Nouaille, Jean-Pierre Hardelin, Paul Avan, Alice Emptoz, Christine Petit, William W. Hauswirth, Lawrence R. Lustig
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, 2019, 116 (10), pp.4496-4501. ⟨10.1073/pnas.1817537116⟩
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2019, 116 (10), pp.4496-4501. ⟨10.1073/pnas.1817537116⟩
Proceedings of the National Academy of Sciences of the United States of America, 2019, 116 (10), pp.4496-4501. ⟨10.1073/pnas.1817537116⟩
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2019, 116 (10), pp.4496-4501. ⟨10.1073/pnas.1817537116⟩
Significance In humans, inner ear development is completed in utero, with hearing onset at ∼20 weeks of gestation. However, genetic forms of congenital deafness are typically diagnosed during the neonatal period. Gene therapy approaches in animal m
Autor:
Charles N de Leeuw, Frank M Dyka, Sanford L Boye, Stéphanie Laprise, Michelle Zhou, Alice Y Chou, Lisa Borretta, Simone C McInerny, Kathleen G Banks, Elodie Portales-Casamar, Magdalena I Swanson, Cletus A D'Souza, Shannon E Boye, Steven JM Jones, Robert A Holt, Daniel Goldowitz, William W Hauswirth, Wyeth W Wasserman, Elizabeth M Simpson
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 1, Iss C (2014)
Critical for human gene therapy is the availability of small promoters tools to drive gene expression in a highly specific and reproducible manner. We tackled this challenge by developing human DNA MiniPromoters (MiniPs) using computational biology a
Externí odkaz:
https://doaj.org/article/a4992868fae84ac68f19247787a4fd6f
Publikováno v:
Hum Gene Ther
Autosomal recessive Stargardt disease is the most common inherited macular degeneration in humans. It is caused by mutations in the retina-specific ATP binding cassette transporter A4 (ABCA4) that is essential for the clearance of all-trans-retinal f