Zobrazeno 1 - 10
of 195
pro vyhledávání: '"Jane Farrar"'
Autor:
Arpad Palfi, Naomi Chadderton, Mary O'Reilly, Kerstin Nagel-Wolfrum, Uwe Wolfrum, Jean Bennett, Peter Humphries, Paul Kenna, Sophia Millington-Ward, Jane Farrar
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 3, Iss C (2016)
Externí odkaz:
https://doaj.org/article/f6fa74f399e04b7e8a9f988e52f52604
Autor:
Arpad Palfi, Naomi Chadderton, Mary O'Reilly, Kerstin Nagel-Wolfrum, Uwe Wolfrum, Jean Bennett, Peter Humphries, Paul Kenna, Sophia Millington-Ward, Jane Farrar
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 2, Iss , Pp - (2015)
As gene therapies for various forms of retinal degeneration progress toward human clinical trial, it will be essential to have a repertoire of safe and efficient vectors for gene delivery to the target cells. Recombinant adeno-associated virus (AAV)
Externí odkaz:
https://doaj.org/article/a385329107234f679f6928e877524be4
Autor:
Magdalena Czekaj, Jochen Haas, Marlen Gebhardt, Thomas Müller-Reichert, Peter Humphries, Jane Farrar, Udo Bartsch, Marius Ader
Publikováno v:
PLoS ONE, Vol 7, Iss 7, p e41798 (2012)
Cell transplantation to treat retinal degenerative diseases represents an option for the replacement of lost photoreceptor cells. In vitro expandable cells isolated from the developing mammalian retina have been suggested as a potential source for th
Externí odkaz:
https://doaj.org/article/71d825942a7b4d758fb4b39a2f7db775
Autor:
Laura Whelan, Adrian Dockery, Kirk A. J. Stephenson, Julia Zhu, Ella Kopčić, Iris J. M. Post, Mubeen Khan, Zelia Corradi, Niamh Wynne, James J. O’ Byrne, Emma Duignan, Giuliana Silvestri, Susanne Roosing, Frans P. M. Cremers, David J. Keegan, Paul F. Kenna, G. Jane Farrar
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-16 (2023)
Abstract Over 15% of probands in a large cohort of more than 1500 inherited retinal degeneration patients present with a clinical diagnosis of Stargardt disease (STGD1), a recessive form of macular dystrophy caused by biallelic variants in the ABCA4
Externí odkaz:
https://doaj.org/article/c46ab88922e84dc084946bcf34d83944
Autor:
Zelia Corradi, Mubeen Khan, Rebekkah Hitti-Malin, Ketan Mishra, Laura Whelan, Stéphanie S. Cornelis, Carel B. Hoyng, Kati Kämpjärvi, Caroline C.W. Klaver, Petra Liskova, Heidi Stöhr, Bernhard H.F. Weber, Sandro Banfi, G. Jane Farrar, Dror Sharon, Jana Zernant, Rando Allikmets, Claire-Marie Dhaenens, Frans P.M. Cremers
Publikováno v:
HGG Advances, Vol 4, Iss 4, Pp 100237- (2023)
Summary: The ABCA4 gene is the most frequently mutated Mendelian retinopathy-associated gene. Biallelic variants lead to a variety of phenotypes, however, for thousands of cases the underlying variants remain unknown. Here, we aim to shed further lig
Externí odkaz:
https://doaj.org/article/a1a8d45cbb204fa082951b43db411a0f
Autor:
Rebekkah J. Hitti-Malin, Daan M. Panneman, Zelia Corradi, Erica G. M. Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard H. F. Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Sandro Banfi, Tamar Ben-Yosef, Damjan Glavač, G. Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P. Szaflik, Anna Matynia, Michael B. Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfride De Baere, Carel B. Hoyng, Catherina H. Z. Li, Caroline C. W. Klaver, Chris F. Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L. Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L. Vincent, Lisa Roberts, Raj Ramesar, Giovanna Sartor, Elena Luppi, Susan M. Downes, L. Ingeborgh van den Born, Terri L. McLaren, John N. De Roach, Tina M. Lamey, Jennifer A. Thompson, Fred K. Chen, Anna M. Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J. Bolz, Hülya Kayserili, Susanne Roosing, Frans P. M. Cremers
Publikováno v:
Biomolecules, Vol 14, Iss 3, p 367 (2024)
Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-associated
Externí odkaz:
https://doaj.org/article/a59ac914048b4e7daf70faf03534c762
Autor:
Janine Reurink, Nicole Weisschuh, Alejandro Garanto, Adrian Dockery, L. Ingeborgh van den Born, Isabelle Fajardy, Lonneke Haer-Wigman, Susanne Kohl, Bernd Wissinger, G. Jane Farrar, Tamar Ben-Yosef, Fatma Kivrak Pfiffner, Wolfgang Berger, Marianna E. Weener, Lubica Dudakova, Petra Liskova, Dror Sharon, Manar Salameh, Ashley Offenheim, Elise Heon, Giorgia Girotto, Paolo Gasparini, Anna Morgan, Arthur A. Bergen, Jacoline B. ten Brink, Caroline C.W. Klaver, Lisbeth Tranebjærg, Nanna D. Rendtorff, Sascha Vermeer, Jeroen J. Smits, Ronald J.E. Pennings, Marco Aben, Jaap Oostrik, Galuh D.N. Astuti, Jordi Corominas Galbany, Hester Y. Kroes, Milan Phan, Wendy A.G. van Zelst-Stams, Alberta A.H.J. Thiadens, Joke B.G.M. Verheij, Mary J. van Schooneveld, Suzanne E. de Bruijn, Catherina H.Z. Li, Carel B. Hoyng, Christian Gilissen, Lisenka E.L.M. Vissers, Frans P.M. Cremers, Hannie Kremer, Erwin van Wijk, Susanne Roosing
Publikováno v:
HGG Advances, Vol 4, Iss 2, Pp 100181- (2023)
Summary: A significant number of individuals with a rare disorder such as Usher syndrome (USH) and (non-)syndromic autosomal recessive retinitis pigmentosa (arRP) remain genetically unexplained. Therefore, we assessed subjects suspected of USH2A-asso
Externí odkaz:
https://doaj.org/article/3a1d6bbbc0b84a3f9409fc1710e756ce
Autor:
Arpad Palfi, Naomi Chadderton, Sophia Millington-Ward, Iris Post, Pete Humphries, Paul F. Kenna, G. Jane Farrar
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 25, Iss , Pp 236-249 (2022)
Recombinant adeno-associated virus (AAV) vectors are one of the main gene delivery vehicles used in retinal gene therapy approaches; however, there is a need to further improve the efficacy, tropism, and safety of these vectors. In this study, using
Externí odkaz:
https://doaj.org/article/71890c9910244be2891351755ac994bd
Autor:
Sophia Millington‐Ward, Naomi Chadderton, Laura K. Finnegan, Iris J.M. Post, Matthew Carrigan, Tom Gardiner, Elisa Peixoto, Daniel Maloney, Marian M. Humphries, Alan Stitt, Thierry Léveillard, Pete Humphries, Paul F. Kenna, Arpad Palfi, G. Jane Farrar
Publikováno v:
Clinical and Translational Medicine, Vol 12, Iss 8, Pp n/a-n/a (2022)
Externí odkaz:
https://doaj.org/article/dd509cf8d833486f904bb413d8b73afb
Autor:
Naomi Chadderton, Arpad Palfi, Daniel M. Maloney, Matthew Carrigan, Laura K. Finnegan, Killian S. Hanlon, Ciara Shortall, Mary O’Reilly, Peter Humphries, Lorraine Cassidy, Paul F. Kenna, Sophia Millington-Ward, G. Jane Farrar
Publikováno v:
Pharmaceutics, Vol 15, Iss 2, p 322 (2023)
AAV gene therapy for ocular disease has become a reality with the market authorisation of LuxturnaTM for RPE65-linked inherited retinal degenerations and many AAV gene therapies currently undergoing phase III clinical trials. Many ocular disorders ha
Externí odkaz:
https://doaj.org/article/bd632e8c331249f2b641b632703c689a