Jane C Sowden
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Explore the profile of Jane C Sowden including associated specialties, affiliations and a list of published articles.
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70
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2260
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Recent Articles
1.
Patel A, Pauzuolyte V, Ingham N, Leong Y, Berger W, Steel K, et al.
Proc Natl Acad Sci U S A
. 2024 Nov;
121(49):e2322124121.
PMID: 39585982
Variants in the gene cause Norrie disease, a severe dual-sensory disorder characterized by congenital blindness due to disrupted retinal vascular development and progressive hearing loss accompanied by sensory hair cell...
2.
Atac D, Maggi K, Feil S, Maggi J, Cuevas E, Sowden J, et al.
Cells
. 2024 Jul;
13(13.
PMID: 38994994
The proneural transcription factor atonal basic helix-loop-helix transcription factor 7 () is expressed in early progenitors in the developing neuroretina. In vertebrates, this is crucial for the development of retinal...
3.
Dorgau B, Collin J, Rozanska A, Zerti D, Unsworth A, Crosier M, et al.
Nat Commun
. 2024 Apr;
15(1):3567.
PMID: 38670973
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...
4.
Pauzuolyte V, Patel A, Wawrzynski J, Ingham N, Leong Y, Karda R, et al.
EMBO Mol Med
. 2023 Aug;
15(10):e17393.
PMID: 37642150
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...
5.
Leong Y, Sowden J
Adv Exp Med Biol
. 2023 Jul;
1415:555-563.
PMID: 37440086
Retinitis pigmentosa (RP) causes blindness in 1 out of 3000-4000 individuals worldwide. Understanding the disease mechanism underlying the death of photoreceptors in RP patient is crucial for the discovery and...
6.
Leong Y, Di Foggia V, Pramod H, Bitner-Glindzicz M, Patel A, Sowden J
Stem Cell Reports
. 2022 Oct;
17(11):2421-2437.
PMID: 36240775
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...
7.
Wawrzynski J, Patel A, Badran A, Dowell I, Henderson R, Sowden J
Front Genet
. 2022 Jun;
13:884722.
PMID: 35651932
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...
8.
Rashidi H, Leong Y, Venner K, Pramod H, Fei Q, Jones O, et al.
Sci Rep
. 2022 Apr;
12(1):6646.
PMID: 35459774
Retinal degenerative diseases are a leading cause of blindness worldwide with debilitating life-long consequences for the affected individuals. Cell therapy is considered a potential future clinical intervention to restore and...
9.
Nazlamova L, Cassidy E, Sowden J, Lotery A, Lakowski J
Stem Cells
. 2022 Mar;
40(2):190-203.
PMID: 35293574
Fluorescent reporter lines generated in human pluripotent stem cells are a highly useful tool to track, isolate, and analyze cell types and lineages in live cultures. Here, we generate the...
10.
Bryant D, Pauzuolyte V, Ingham N, Patel A, Pagarkar W, Anderson L, et al.
JCI Insight
. 2022 Feb;
7(3).
PMID: 35132964
Norrie disease is caused by mutation of the NDP gene, presenting as congenital blindness followed by later onset of hearing loss. Protecting patients from hearing loss is critical for maintaining...