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Items: 1 to 50 of 91

1.

A single-cell transcriptome atlas of the adult human retina.

Lukowski SW, Lo CY, Sharov AA, Nguyen Q, Fang L, Hung SS, Zhu L, Zhang T, Grünert U, Nguyen T, Senabouth A, Jabbari JS, Welby E, Sowden JC, Waugh HS, Mackey A, Pollock G, Lamb TD, Wang PY, Hewitt AW, Gillies MC, Powell JE, Wong RC.

EMBO J. 2019 Sep 16;38(18):e100811. doi: 10.15252/embj.2018100811. Epub 2019 Aug 22.

PMID:
31436334
2.

Detailed analysis of chick optic fissure closure reveals Netrin-1 as an essential mediator of epithelial fusion.

Hardy H, Prendergast JG, Patel A, Dutta S, Trejo-Reveles V, Kroeger H, Yung AR, Goodrich LV, Brooks B, Sowden JC, Rainger J.

Elife. 2019 Jun 4;8. pii: e43877. doi: 10.7554/eLife.43877.

3.

Conditional Dicer1 depletion using Chrnb4-Cre leads to cone cell death and impaired photopic vision.

Aldunate EZ, Di Foggia V, Di Marco F, Hervas LA, Ribeiro JC, Holder DL, Patel A, Jannini TB, Thompson DA, Martinez-Barbera JP, Pearson RA, Ali RR, Sowden JC.

Sci Rep. 2019 Feb 19;9(1):2314. doi: 10.1038/s41598-018-38294-9.

4.

The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders.

Patel A, Hayward JD, Tailor V, Nyanhete R, Ahlfors H, Gabriel C, Jannini TB, Abbou-Rayyah Y, Henderson R, Nischal KK, Islam L, Bitner-Glindzicz M, Hurst J, Valdivia LE, Zanolli M, Moosajee M, Brookes J, Papadopoulos M, Khaw PT, Cullup T, Jenkins L, Dahlmann-Noor A, Sowden JC.

Ophthalmology. 2019 Jun;126(6):888-907. doi: 10.1016/j.ophtha.2018.12.050. Epub 2019 Jan 14.

PMID:
30653986
5.

Pattern Onset ERGs and VEPs Produced by Patterns Arising From Light Increment and Decrement.

Fritsch DM, Sowden JC, Thompson DA.

Invest Ophthalmol Vis Sci. 2018 Jan 1;59(1):94-99. doi: 10.1167/iovs.17-22984.

PMID:
29332121
6.

Isolation of Human Photoreceptor Precursors via a Cell Surface Marker Panel from Stem Cell-Derived Retinal Organoids and Fetal Retinae.

Lakowski J, Welby E, Budinger D, Di Marco F, Di Foggia V, Bainbridge JWB, Wallace K, Gamm DM, Ali RR, Sowden JC.

Stem Cells. 2018 May;36(5):709-722. doi: 10.1002/stem.2775. Epub 2018 Feb 1.

7.

Transplanted Donor- or Stem Cell-Derived Cone Photoreceptors Can Both Integrate and Undergo Material Transfer in an Environment-Dependent Manner.

Waldron PV, Di Marco F, Kruczek K, Ribeiro J, Graca AB, Hippert C, Aghaizu ND, Kalargyrou AA, Barber AC, Grimaldi G, Duran Y, Blackford SJI, Kloc M, Goh D, Zabala Aldunate E, Sampson RD, Bainbridge JWB, Smith AJ, Gonzalez-Cordero A, Sowden JC, Ali RR, Pearson RA.

Stem Cell Reports. 2018 Feb 13;10(2):406-421. doi: 10.1016/j.stemcr.2017.12.008. Epub 2018 Jan 4.

8.

Genes and pathways in optic fissure closure.

Patel A, Sowden JC.

Semin Cell Dev Biol. 2019 Jul;91:55-65. doi: 10.1016/j.semcdb.2017.10.010. Epub 2017 Dec 6. Review.

PMID:
29198497
9.

Isolation and Comparative Transcriptome Analysis of Human Fetal and iPSC-Derived Cone Photoreceptor Cells.

Welby E, Lakowski J, Di Foggia V, Budinger D, Gonzalez-Cordero A, Lun ATL, Epstein M, Patel A, Cuevas E, Kruczek K, Naeem A, Minneci F, Hubank M, Jones DT, Marioni JC, Ali RR, Sowden JC.

Stem Cell Reports. 2017 Dec 12;9(6):1898-1915. doi: 10.1016/j.stemcr.2017.10.018. Epub 2017 Nov 16.

10.

Recapitulation of Human Retinal Development from Human Pluripotent Stem Cells Generates Transplantable Populations of Cone Photoreceptors.

Gonzalez-Cordero A, Kruczek K, Naeem A, Fernando M, Kloc M, Ribeiro J, Goh D, Duran Y, Blackford SJI, Abelleira-Hervas L, Sampson RD, Shum IO, Branch MJ, Gardner PJ, Sowden JC, Bainbridge JWB, Smith AJ, West EL, Pearson RA, Ali RR.

Stem Cell Reports. 2017 Sep 12;9(3):820-837. doi: 10.1016/j.stemcr.2017.07.022. Epub 2017 Aug 24.

11.

Differentiation and Transplantation of Embryonic Stem Cell-Derived Cone Photoreceptors into a Mouse Model of End-Stage Retinal Degeneration.

Kruczek K, Gonzalez-Cordero A, Goh D, Naeem A, Jonikas M, Blackford SJI, Kloc M, Duran Y, Georgiadis A, Sampson RD, Maswood RN, Smith AJ, Decembrini S, Arsenijevic Y, Sowden JC, Pearson RA, West EL, Ali RR.

Stem Cell Reports. 2017 Jun 6;8(6):1659-1674. doi: 10.1016/j.stemcr.2017.04.030. Epub 2017 May 25.

12.

Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis.

Cheong SS, Hentschel L, Davidson AE, Gerrelli D, Davie R, Rizzo R, Pontikos N, Plagnol V, Moore AT, Sowden JC, Michaelides M, Snead M, Tuft SJ, Hardcastle AJ.

Am J Hum Genet. 2016 Dec 1;99(6):1338-1352. doi: 10.1016/j.ajhg.2016.09.022. Epub 2016 Nov 10.

13.

Donor and host photoreceptors engage in material transfer following transplantation of post-mitotic photoreceptor precursors.

Pearson RA, Gonzalez-Cordero A, West EL, Ribeiro JR, Aghaizu N, Goh D, Sampson RD, Georgiadis A, Waldron PV, Duran Y, Naeem A, Kloc M, Cristante E, Kruczek K, Warre-Cornish K, Sowden JC, Smith AJ, Ali RR.

Nat Commun. 2016 Oct 4;7:13029. doi: 10.1038/ncomms13029.

14.

Induced Pluripotent Stem Cell Therapies for Degenerative Disease of the Outer Retina: Disease Modeling and Cell Replacement.

Di Foggia V, Makwana P, Ali RR, Sowden JC.

J Ocul Pharmacol Ther. 2016 Jun;32(5):240-52. doi: 10.1089/jop.2015.0143. Epub 2016 Mar 30. Review.

15.

Transplantation of Photoreceptor Precursors Isolated via a Cell Surface Biomarker Panel From Embryonic Stem Cell-Derived Self-Forming Retina.

Lakowski J, Gonzalez-Cordero A, West EL, Han YT, Welby E, Naeem A, Blackford SJ, Bainbridge JW, Pearson RA, Ali RR, Sowden JC.

Stem Cells. 2015 Aug;33(8):2469-82. doi: 10.1002/stem.2051. Epub 2015 May 27.

16.

ESC-derived retinal pigmented epithelial cell transplants in patients: so far, so good.

Sowden JC.

Cell Stem Cell. 2014 Nov 6;15(5):537-8. doi: 10.1016/j.stem.2014.10.008. Epub 2014 Nov 6.

17.

Functional analysis of FOXE3 mutations causing dominant and recessive ocular anterior segment disease.

Islam L, Kelberman D, Williamson L, Lewis N, Glindzicz MB, Nischal KK, Sowden JC.

Hum Mutat. 2015 Mar;36(3):296-300. doi: 10.1002/humu.22741.

PMID:
25504734
18.

Mutation of SALL2 causes recessive ocular coloboma in humans and mice.

Kelberman D, Islam L, Lakowski J, Bacchelli C, Chanudet E, Lescai F, Patel A, Stupka E, Buck A, Wolf S, Beales PL, Jacques TS, Bitner-Glindzicz M, Liasis A, Lehmann OJ, Kohlhase J, Nischal KK, Sowden JC.

Hum Mol Genet. 2014 May 15;23(10):2511-26. doi: 10.1093/hmg/ddt643. Epub 2014 Jan 9.

19.

Migration, integration and maturation of photoreceptor precursors following transplantation in the mouse retina.

Warre-Cornish K, Barber AC, Sowden JC, Ali RR, Pearson RA.

Stem Cells Dev. 2014 May 1;23(9):941-54. doi: 10.1089/scd.2013.0471. Epub 2014 Feb 18.

20.

A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency.

Macchiaroli A, Kelberman D, Auriemma RS, Drury S, Islam L, Giangiobbe S, Ironi G, Lench N, Sowden JC, Colao A, Pivonello R, Cavallo L, Gasperi M, Faienza MF.

Gene. 2014 Jan 25;534(2):282-5. doi: 10.1016/j.gene.2013.10.043. Epub 2013 Nov 6.

PMID:
24211324
21.

ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies.

Webb EA, AlMutair A, Kelberman D, Bacchelli C, Chanudet E, Lescai F, Andoniadou CL, Banyan A, Alsawaid A, Alrifai MT, Alahmesh MA, Balwi M, Mousavy-Gharavy SN, Lukovic B, Burke D, McCabe MJ, Kasia T, Kleta R, Stupka E, Beales PL, Thompson DA, Chong WK, Alkuraya FS, Martinez-Barbera JP, Sowden JC, Dattani MT.

Brain. 2013 Oct;136(Pt 10):3096-105. doi: 10.1093/brain/awt218. Epub 2013 Sep 10.

22.

Photoreceptor precursors derived from three-dimensional embryonic stem cell cultures integrate and mature within adult degenerate retina.

Gonzalez-Cordero A, West EL, Pearson RA, Duran Y, Carvalho LS, Chu CJ, Naeem A, Blackford SJI, Georgiadis A, Lakowski J, Hubank M, Smith AJ, Bainbridge JWB, Sowden JC, Ali RR.

Nat Biotechnol. 2013 Aug;31(8):741-7. doi: 10.1038/nbt.2643. Epub 2013 Jul 21.

23.

Monitoring ferumoxide-labelled neural progenitor cells and lesion evolution by magnetic resonance imaging in a model of cell transplantation in cerebral ischaemia.

Panizzo RA, Gadian DG, Sowden JC, Wells JA, Lythgoe MF, Ferretti P.

Version 2. F1000Res. 2013 Nov 21 [revised 2014 Jan 1];2:252. doi: 10.12688/f1000research.2-252.v2. eCollection 2013.

24.

Repair of the degenerate retina by photoreceptor transplantation.

Barber AC, Hippert C, Duran Y, West EL, Bainbridge JW, Warre-Cornish K, Luhmann UF, Lakowski J, Sowden JC, Ali RR, Pearson RA.

Proc Natl Acad Sci U S A. 2013 Jan 2;110(1):354-9. doi: 10.1073/pnas.1212677110. Epub 2012 Dec 17.

25.

Brief report: self-organizing neuroepithelium from human pluripotent stem cells facilitates derivation of photoreceptors.

Boucherie C, Mukherjee S, Henckaerts E, Thrasher AJ, Sowden JC, Ali RR.

Stem Cells. 2013 Feb;31(2):408-14. doi: 10.1002/stem.1268.

26.

Common TGFβ2, BMP4, and FOXC1 variants are not associated with primary open-angle glaucoma.

Park S, Jamshidi Y, Vaideanu D, Fraser S, Sowden JC.

Mol Vis. 2012;18:1526-39. Epub 2012 Jun 13.

27.

ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous.

Prasov L, Masud T, Khaliq S, Mehdi SQ, Abid A, Oliver ER, Silva ED, Lewanda A, Brodsky MC, Borchert M, Kelberman D, Sowden JC, Dattani MT, Glaser T.

Hum Mol Genet. 2012 Aug 15;21(16):3681-94. doi: 10.1093/hmg/dds197. Epub 2012 May 29.

28.

Von Hippel-Lindau protein in the RPE is essential for normal ocular growth and vascular development.

Lange CA, Luhmann UF, Mowat FM, Georgiadis A, West EL, Abrahams S, Sayed H, Powner MB, Fruttiger M, Smith AJ, Sowden JC, Maxwell PH, Ali RR, Bainbridge JW.

Development. 2012 Jul;139(13):2340-50. doi: 10.1242/dev.070813. Epub 2012 May 23.

29.

Defining the integration capacity of embryonic stem cell-derived photoreceptor precursors.

West EL, Gonzalez-Cordero A, Hippert C, Osakada F, Martinez-Barbera JP, Pearson RA, Sowden JC, Takahashi M, Ali RR.

Stem Cells. 2012 Jul;30(7):1424-35. doi: 10.1002/stem.1123.

30.

Restoration of vision after transplantation of photoreceptors.

Pearson RA, Barber AC, Rizzi M, Hippert C, Xue T, West EL, Duran Y, Smith AJ, Chuang JZ, Azam SA, Luhmann UF, Benucci A, Sung CH, Bainbridge JW, Carandini M, Yau KW, Sowden JC, Ali RR.

Nature. 2012 May 3;485(7396):99-103. doi: 10.1038/nature10997.

31.

Foveal cavitation as an optical coherence tomography finding in central cone dysfunction.

Leng T, Marmor MF, Kellner U, Thompson DA, Renner AB, Moore W, Sowden JC.

Retina. 2012 Jul;32(7):1411-9. doi: 10.1097/IAE.0b013e318236e4ea.

PMID:
22466470
32.

Manipulation of the recipient retinal environment by ectopic expression of neurotrophic growth factors can improve transplanted photoreceptor integration and survival.

West EL, Pearson RA, Duran Y, Gonzalez-Cordero A, MacLaren RE, Smith AJ, Sowden JC, Ali RR.

Cell Transplant. 2012;21(5):871-87. doi: 10.3727/096368911X623871. Epub 2012 Feb 2.

33.

X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.

Webb TR, Matarin M, Gardner JC, Kelberman D, Hassan H, Ang W, Michaelides M, Ruddle JB, Pennell CE, Yazar S, Khor CC, Aung T, Yogarajah M, Robson AG, Holder GE, Cheetham ME, Traboulsi EI, Moore AT, Sowden JC, Sisodiya SM, Mackey DA, Tuft SJ, Hardcastle AJ.

Am J Hum Genet. 2012 Feb 10;90(2):247-59. doi: 10.1016/j.ajhg.2011.12.019. Epub 2012 Jan 26.

34.

Isolation and culture of adult ciliary epithelial cells, previously identified as retinal stem cells, and retinal progenitor cells.

Gualdoni S, Baron M, Lakowski J, Decembrini S, Pearson RA, Ali RR, Sowden JC.

Curr Protoc Stem Cell Biol. 2011 Dec;Chapter 1:Unit 1H.4. doi: 10.1002/9780470151808.sc01h04s19.

PMID:
22135083
35.

Anophthalmos, microphthalmos, and Coloboma in the United kingdom: clinical features, results of investigations, and early management.

Shah SP, Taylor AE, Sowden JC, Ragge N, Russell-Eggitt I, Rahi JS, Gilbert CE; Surveillance of Eye Anomalies Special Interest Group.

Ophthalmology. 2012 Feb;119(2):362-8. doi: 10.1016/j.ophtha.2011.07.039. Epub 2011 Nov 4.

PMID:
22054996
36.

Digenic inheritance of mutations in FOXC1 and PITX2 : correlating transcription factor function and Axenfeld-Rieger disease severity.

Kelberman D, Islam L, Holder SE, Jacques TS, Calvas P, Hennekam RC, Nischal KK, Sowden JC.

Hum Mutat. 2011 Oct;32(10):1144-52. doi: 10.1002/humu.21550. Epub 2011 Sep 8.

PMID:
21837767
37.

Effective transplantation of photoreceptor precursor cells selected via cell surface antigen expression.

Lakowski J, Han YT, Pearson RA, Gonzalez-Cordero A, West EL, Gualdoni S, Barber AC, Hubank M, Ali RR, Sowden JC.

Stem Cells. 2011 Sep;29(9):1391-404. doi: 10.1002/stem.694.

38.

Induced pluripotent stem cell technology for generating photoreceptors.

Boucherie C, Sowden JC, Ali RR.

Regen Med. 2011 Jul;6(4):469-79. doi: 10.2217/rme.11.37. Review.

PMID:
21749205
39.

Chromosome abnormalities and the genetics of congenital corneal opacification.

Mataftsi A, Islam L, Kelberman D, Sowden JC, Nischal KK.

Mol Vis. 2011;17:1624-40. Epub 2011 Jun 17. Review.

40.

CYP1B1-related anterior segment developmental anomalies novel mutations for infantile glaucoma and von Hippel's ulcer revisited.

Kelberman D, Islam L, Jacques TS, Russell-Eggitt I, Bitner-Glindzicz M, Khaw PT, Nischal KK, Sowden JC.

Ophthalmology. 2011 Sep;118(9):1865-73. doi: 10.1016/j.ophtha.2011.01.044. Epub 2011 May 20.

PMID:
21600657
41.

Regenerative medicine: DIY eye.

Ali RR, Sowden JC.

Nature. 2011 Apr 7;472(7341):42-3. doi: 10.1038/472042a. No abstract available.

PMID:
21475187
42.

Atypical Peters plus syndrome with new associations.

Mataftsi A, Sowden JC, Nischal KK.

J AAPOS. 2010 Dec;14(6):560-1; author reply 561. doi: 10.1016/j.jaapos.2010.09.001. No abstract available.

PMID:
21168087
43.

Comparative analysis of the retinal potential of embryonic stem cells and amniotic fluid-derived stem cells.

Decembrini S, Cananzi M, Gualdoni S, Battersby A, Allen N, Pearson RA, Ali RR, De Coppi P, Sowden JC.

Stem Cells Dev. 2011 May;20(5):851-63. doi: 10.1089/scd.2010.0291. Epub 2010 Dec 6.

PMID:
20939691
44.

Cone and rod photoreceptor transplantation in models of the childhood retinopathy Leber congenital amaurosis using flow-sorted Crx-positive donor cells.

Lakowski J, Baron M, Bainbridge J, Barber AC, Pearson RA, Ali RR, Sowden JC.

Hum Mol Genet. 2010 Dec 1;19(23):4545-59. doi: 10.1093/hmg/ddq378. Epub 2010 Sep 21.

45.

Long-term survival of photoreceptors transplanted into the adult murine neural retina requires immune modulation.

West EL, Pearson RA, Barker SE, Luhmann UF, Maclaren RE, Barber AC, Duran Y, Smith AJ, Sowden JC, Ali RR.

Stem Cells. 2010 Nov;28(11):1997-2007. doi: 10.1002/stem.520.

46.

Anophthalmos, microphthalmos, and typical coloboma in the United Kingdom: a prospective study of incidence and risk.

Shah SP, Taylor AE, Sowden JC, Ragge NK, Russell-Eggitt I, Rahi JS, Gilbert CE; Surveillance of Eye Anomalies (SEA-UK) Special Interest Group.

Invest Ophthalmol Vis Sci. 2011 Feb 1;52(1):558-64. doi: 10.1167/iovs.10-5263.

47.

Adult ciliary epithelial cells, previously identified as retinal stem cells with potential for retinal repair, fail to differentiate into new rod photoreceptors.

Gualdoni S, Baron M, Lakowski J, Decembrini S, Smith AJ, Pearson RA, Ali RR, Sowden JC.

Stem Cells. 2010 Jun;28(6):1048-59. doi: 10.1002/stem.423.

48.

Targeted disruption of outer limiting membrane junctional proteins (Crb1 and ZO-1) increases integration of transplanted photoreceptor precursors into the adult wild-type and degenerating retina.

Pearson RA, Barber AC, West EL, MacLaren RE, Duran Y, Bainbridge JW, Sowden JC, Ali RR.

Cell Transplant. 2010;19(4):487-503. doi: 10.3727/096368909X486057. Epub 2010 Jan 20.

49.

Cell transplantation strategies for retinal repair.

West EL, Pearson RA, MacLaren RE, Sowden JC, Ali RR.

Prog Brain Res. 2009;175:3-21. doi: 10.1016/S0079-6123(09)17501-5. Review.

50.

Loss of Tbx2 delays optic vesicle invagination leading to small optic cups.

Behesti H, Papaioannou VE, Sowden JC.

Dev Biol. 2009 Sep 15;333(2):360-72. doi: 10.1016/j.ydbio.2009.06.026. Epub 2009 Jul 1.

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