Zobrazeno 1 - 10
of 129
pro vyhledávání: '"Jane C Sowden"'
Autor:
Valda Pauzuolyte, Aara Patel, James R Wawrzynski, Neil J Ingham, Yeh Chwan Leong, Rajvinder Karda, Maria Bitner‐Glindzicz, Wolfgang Berger, Simon N Waddington, Karen P Steel, Jane C Sowden
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 10, Pp n/a-n/a (2023)
Abstract Deafness affects 5% of the world's population, yet there is a lack of treatments to prevent hearing loss due to genetic causes. Norrie disease is a recessive X‐linked disorder, caused by NDP gene mutation. It manifests as blindness at birt
Externí odkaz:
https://doaj.org/article/20194006b0f44e9ebc938dfeede099dc
Autor:
Jane C Sowden, Corné J Kros, Tony Sirimanna, Waheeda Pagarkar, Ngozi Oluonye, Robert H Henderson
Publikováno v:
BMJ Paediatrics Open, Vol 4, Iss 1 (2020)
Norrie disease (ND) is a rare, X-linked condition of visual and auditory impairment, often presenting with additional neurological features and developmental delays of varying severity. While all affected patients are born blind, or lose their vision
Externí odkaz:
https://doaj.org/article/ffab2a420720471f9a63a6553455c726
Autor:
Holly Hardy, James GD Prendergast, Aara Patel, Sunit Dutta, Violeta Trejo-Reveles, Hannah Kroeger, Andrea R Yung, Lisa V Goodrich, Brian Brooks, Jane C Sowden, Joe Rainger
Publikováno v:
eLife, Vol 8 (2019)
Epithelial fusion underlies many vital organogenic processes during embryogenesis. Disruptions to these cause a significant number of human birth defects, including ocular coloboma. We provide robust spatial-temporal staging and unique anatomical det
Externí odkaz:
https://doaj.org/article/954b152a5b0d453aa0310ee5b9f00758
Autor:
Birthe Dorgau, Joseph Collin, Agata Rozanska, Darin Zerti, Adrienne Unsworth, Moira Crosier, Rafiqul Hussain, Jonathan Coxhead, Tamil Dhanaseelan, Aara Patel, Jane C. Sowden, David R. FitzPatrick, Rachel Queen, Majlinda Lako
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)
Abstract The emergence of retinal progenitor cells and differentiation to various retinal cell types represent fundamental processes during retinal development. Herein, we provide a comprehensive single cell characterisation of transcriptional and ch
Externí odkaz:
https://doaj.org/article/416ae52d4d2147ef83f5da46162b46af
Autor:
Rachael A Panizzo, David G Gadian, Jane C Sowden, Jack A Wells, Mark F Lythgoe, Patrizia Ferretti
Publikováno v:
F1000Research, Vol 2 (2014)
Efficacy of neural stem/progenitor cell (NPC) therapies after cerebral ischaemia could be better evaluated by monitoring in vivo migration and distribution of cells post-engraftment in parallel with analysis of lesion volume and functional recovery.
Externí odkaz:
https://doaj.org/article/34869daec471411992940800f459f4ae
Autor:
Rachael A Panizzo, David G Gadian, Jane C Sowden, Jack A Wells, Mark F Lythgoe, Patrizia Ferretti
Publikováno v:
F1000Research, Vol 2 (2013)
Efficacy of neural stem/progenitor cell (NPC) therapies after cerebral ischaemia could be better evaluated by monitoring in vivo migration and distribution of cells post-engraftment in parallel with analysis of lesion volume and functional recovery.
Externí odkaz:
https://doaj.org/article/73c6e87831b9404b8d732b7f867d38a0
Autor:
David Atac, Kevin Maggi, Silke Feil, Jordi Maggi, Elisa Cuevas, Jane C. Sowden, Samuel Koller, Wolfgang Berger
Publikováno v:
Cells, Vol 13, Iss 13, p 1142 (2024)
The proneural transcription factor atonal basic helix–loop–helix transcription factor 7 (ATOH7) is expressed in early progenitors in the developing neuroretina. In vertebrates, this is crucial for the development of retinal ganglion cells (RGCs),
Externí odkaz:
https://doaj.org/article/e455fd37ba5e41c2a0ffbef85d36e9cf
Autor:
Yeh Chwan Leong, Valentina Di Foggia, Hema Pramod, Maria Bitner-Glindzicz, Aara Patel, Jane C. Sowden
Publikováno v:
Stem Cell Reports. 17:2421-2437
Usher syndrome-associated retinitis pigmentosa (RP) causes progressive retinal degeneration, which has no cure. The pathomechanism of Usher type 1B (USH1B)-RP caused by MYO7A mutation remains elusive because of the lack of faithful animal models and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0410c0b03464e0dd48a1f47ce848005
https://doi.org/10.1016/j.stemcr.2022.09.006
https://doi.org/10.1016/j.stemcr.2022.09.006
Publikováno v:
Frontiers in Genetics. 13
Aims and Rationale: The inner retina is supplied by three intraretinal capillary plexi whereas the outer retina is supplied by the choroidal circulation: NDP is essential for normal intraretinal vascularisation. Pathogenic variants in NDP (Xp11.3) ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::535b46f7df3d96336704ed95b2ecd6b4
https://doi.org/10.3389/fgene.2022.884722
https://doi.org/10.3389/fgene.2022.884722
Autor:
Jane C. Sowden, Edward R. Ritvo, James C. McPartland, Paul A Constable, Morgan L McNair, Dylan Stahl, Ariella Riva Ritvo, Dorothy A. Thompson, Irene Lee, Stephen Quinn, David Skuse
Publikováno v:
Journal of Autism and Developmental Disorders. 50:2874-2885
Light-adapted (LA) electroretinograms (ERGs) from 90 individuals with autism spectrum disorder (ASD), mean age (13.0 ± 4.2), were compared to 87 control subjects, mean age (13.8 ± 4.8). LA-ERGs were produced by a random series of nine different Tro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79ae35e285011432723fa78d3a2535af
https://doi.org/10.1007/s10803-020-04396-5
https://doi.org/10.1007/s10803-020-04396-5