Aara Patel
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Explore the profile of Aara Patel including associated specialties, affiliations and a list of published articles.
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Articles
14
Citations
251
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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.
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...
3.
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...
4.
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...
5.
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...
6.
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...
7.
Patel A, Anderson G, Galea G, Balys M, Sowden J
Development
. 2020 Nov;
147(24).
PMID: 33158926
Ocular coloboma is a congenital eye malformation, resulting from a failure in optic fissure closure (OFC) and causing visual impairment. There has been little study of the epithelial fusion process...
8.
Sowden J, Patel A, Dahlmann-Noor A, Cullup T, Jenkins L
Ophthalmology
. 2020 Mar;
127(4):e22-e23.
PMID: 32200847
No abstract available.
9.
Hardy H, Prendergast J, Patel A, Dutta S, Trejo-Reveles V, Kroeger H, et al.
Elife
. 2019 Jun;
8.
PMID: 31162046
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...
10.
Aldunate E, Di Foggia V, di Marco F, Hervas L, Ribeiro J, Holder D, et al.
Sci Rep
. 2019 Feb;
9(1):2314.
PMID: 30783126
Irreversible photoreceptor cell death is a major cause of blindness in many retinal dystrophies. A better understanding of the molecular mechanisms underlying the progressive loss of photoreceptor cells remains therefore...