Prof Jane Sowden

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Personal Profile

Name: Jane Sowden Email: j.sowden@ucl.ac.uk
Title: Prof Tel: 44 20 7905 2121
Department: ICH - Developmental Biology Unit Fax: 44 20 7831 4366
Position: Professor of Developmental Biology & Genetics Address: Institute of Child Health UCL, 30 Guildford Street, London, WC1N 1EH
Research Domain: Genetics (Frontier Disciplines), Neuroscience, Personalised Medicine, Populations & Lifelong Health, Reproduction & Development, Stem Cells & Regenerative Medicine (Frontier Disciplines) Web Page: Personal Web Page

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Research Description

My research group works on eye development and repair. Our aims are to define the molecular genetic pathways that regulate eye development, to understand how these pathways are disrupted in congenital eye disease, and to apply knowledge of retinal development to devise new strategies to repair and regenerate the diseased retina.

We analyse patient DNA samples to identify the genetic causes of childhood blindness. Between 9-20% of cases of childhood blindness in the UK involve structural malformations of the eye. These congenital eye abnormalities occur when the normal biological processes that form the eye before birth are disrupted. By correlating molecular diagnoses with clinical phenotype and outcomes our research aims to support clinical practice and management in paediatric ophthalmology.

A complex series of morphogenetic events and tissue interactions give rise to the embryonic optic cup, from which the mature eye globe subsequently develops before birth. Developmental eye anomalies, such as microphthalmia and coloboma, Axenfeld Rieger syndrome, corneal opacity and congenital glaucoma occur when gene mutations alter key developmental pathways. Mutation of the CHX10 gene, essential for expansion of the retinal progenitor cell population of the neural retina, was the first identified cause of non-syndromic microphthalmia. My lab studies models of abnormal eye development (e.g. Chx10-/- mice), in order to identify molecular pathways regulating neural progenitors destined to form the mature retina and anterior segment tissues.

Retinal progenitor cells undergo a finite number of cell divisions to produce the full complement of retinal neurons and glial cells during development. The adult retina is normally post-mitotic and is unable to replace neurons lost in disease. Retinal neurons die in retinal diseases such as retinitis pigmentosa and Lebers congenital amaurosis that involve loss of photoreceptor cells, or glaucoma involving loss of retinal ganglion cells, and the loss of vision is irreversible. We are exploring stem cell populations in the eye that may have the potential to repair the diseased retina. We showed that lack of Chx10 causes the adult retina to maintain a population of neural progenitors that can be expanded in neurosphere cultures in vitro. A different population of quiescent progenitor cells can be expanded from the ciliary epithelium of the eye. We are investigating whether such cells sources can be directed to produce new photoreceptors.

Working closely with Robin Ali's group at the UCL Institute of Ophthalmology we are developing cell transplantation approaches to repair the diseased retina. We have identified a population of rod photoreceptor precursor cells in the developing retina, defined by activation of the Nrl gene, that when transplanted into the mature retina are able to integrate and form new functional rod photoreceptors. By transplanting Crx-expressing precursors we have shown that transplantation of cone photoreceptors is also feasible. We have demonstrated that the diseased retina is capable of integrating new rod photoreceptors that restore some vision to blind mice.

Current work is focussed on isolating photoreceptor precursor cells from in vitro stem cell cultures, optimising conditions to promote the development of new cone photoreceptors cells, and defining the molecular properties that allow transplanted cells to effectively integrate and repair the retina.  



Research Activities

Development of novel therapies for the treatment of retinal degeneration

Eye Development and Repair

Stem Cell Therapy and Retinal Degeneration

Education Description

UCL Collaborators

Prof Adrian Thrasher; Prof Robin Ali; Dr Rachael Pearson

External Collaborators

Publications

    2014

    • 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 (2014). Mutation of SALL2 causes recessive ocular coloboma in humans and mice.. Hum Mol Genet, , - . doi:10.1093/hmg/ddt643

    2013

    • Panizzo RA, Gadian DG, Sowden JC, Wells JA, Lythgoe M, Ferretti P (2013). Monitoring ferumoxide-labelled neural progenitor cells and lesion evolution by magnetic resonance imaging in a model of cell transplantation in cerebral ischaemia. F1000Research, conditionally accepted, - .
    • Warre-Cornish K, Barber AC, Sowden JC, Ali RR, Pearson RA (2013). Migration, integration and maturation of photoreceptor precursors following transplantation in the mouse retina.. Stem Cells Dev, , - . doi:10.1089/scd.2013.0471
    • Boucherie C, Mukherjee S, Henckaerts E, Thrasher AJ, Sowden JC, Ali RR (2013). Brief report: self-organizing neuroepithelium from human pluripotent stem cells facilitates derivation of photoreceptors.. Stem Cells, 31(2), 408 - 414. doi:10.1002/stem.1268
    • 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 (2013). ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies.. Brain, , - . doi:10.1093/brain/awt218
    • Gonzalez-Cordero A, West EL, Pearson RA, Duran Y, Carvalho LS, Chu CJ, Naeem A, Blackford SJ, Georgiadis A, Lakowski J, Hubank M, Smith AJ, Bainbridge JW, Sowden JC, Ali RR (2013). Photoreceptor precursors derived from three-dimensional embryonic stem cell cultures integrate and mature within adult degenerate retina.. Nat Biotechnol, , - . doi:10.1038/nbt.2643
    • 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 (2013). A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency.. Gene, , - . doi:10.1016/j.gene.2013.10.043

    2012

    • Park S, Jamshidi Y, Vaideanu D, Fraser S, Sowden JC (2012). Common TGFβ2, BMP4, and FOXC1 variants are not associated with primary open-angle glaucoma.. Mol Vis, 18, 1526 - 1539.
    • 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 (2012). ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous.. Hum Mol Genet, 21(16), 3681 - 3694. doi:10.1093/hmg/dds197
    • 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 (2012). Von Hippel-Lindau protein in the RPE is essential for normal ocular growth and vascular development.. Development, 139(13), 2340 - 2350. doi:10.1242/dev.070813
    • West EL, Gonzalez-Cordero A, Hippert C, Osakada F, Martinez-Barbera JP, Pearson RA, Sowden JC, Takahashi M, Ali RR (2012). Defining the integration capacity of embryonic stem cell-derived photoreceptor precursors.. Stem Cells, 30(7), 1424 - 1435. doi:10.1002/stem.1123
    • Shah SP, Taylor AE, Sowden JC, Ragge N, Russell-Eggitt I, Rahi JS, Gilbert CE, Surveillance of Eye Anomalies Special Interest Group (2012). Anophthalmos, microphthalmos, and Coloboma in the United kingdom: clinical features, results of investigations, and early management.. Ophthalmology, 119(2), 362 - 368. doi:10.1016/j.ophtha.2011.07.039
    • Leng T, Marmor MF, Kellner U, Thompson DA, Renner AB, Moore W, Sowden JC (2012). Foveal cavitation as an optical coherence tomography finding in central cone dysfunction.. Retina, 32(7), 1411 - 1419. doi:10.1097/IAE.0b013e318236e4ea
    • West EL, Pearson RA, Duran Y, Gonzalez-Cordero A, MacLaren RE, Smith AJ, Sowden JC, Ali RR (2012). Manipulation of the recipient retinal environment by ectopic expression of neurotrophic growth factors can improve transplanted photoreceptor integration and survival.. Cell Transplant, 21(5), 871 - 887. doi:10.3727/096368911X623871
    • 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 (2012). X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.. Am J Hum Genet, 90(2), 247 - 259. doi:10.1016/j.ajhg.2011.12.019
    • 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 (2012). Restoration of vision after transplantation of photoreceptors.. Nature, 485(7396), 99 - 103. doi:10.1038/nature10997

    2011

    • Kelberman D, Islam L, Jacques TS, Russell-Eggitt I, Bitner-Glindzicz M, Khaw PT, Nischal KK, Sowden JC (2011). CYP1B1-related anterior segment developmental anomalies novel mutations for infantile glaucoma and von Hippel's ulcer revisited.. Ophthlamology, 118(9), 1865 - 1873.
    • West EL, Gonzalez-Cordero A, Hippert C, Duran Y, Pearson RA, Sowden JC, Ali RR (2011). Embryonic stem cell-derived retinal cells transplanted to the adult retina.
    • Gualdoni S, Baron M, Lakowski J, Decembrini S, Pearson RA, Ali RR, Sowden JC (2011). Isolation and culture of adult ciliary epithelial cells, previously identified as retinal stem cells, and retinal progenitor cells.. Curr Protoc Stem Cell Biol, Chapter 1, Unit - 1H.4. doi:10.1002/9780470151808.sc01h04s19
    • Lakowski J, Han YT, Pearson RA, Gonzalez-Cordero A, West EL, Gualdoni S, Barber AC, Hubank M, Ali RR, Sowden JC (2011). Effective transplantation of photoreceptor precursor cells selected via cell surface antigen expression.. Stem Cells, 29(9), 1391 - 1404. doi:10.1002/stem.694
    • Boucherie C, Sowden JC, Ali RR (2011). Induced pluripotent stem cell technology for generating photoreceptors.. Regen Med, 6(4), 469 - 479. doi:10.2217/rme.11.37
    • Kelberman D, Islam L, Holder SE, Jacques TS, Calvas P, Hennekam RC, Nischal KK, Sowden JC (2011). Digenic inheritance of mutations in FOXC1 and PITX2 : correlating transcription factor function and Axenfeld-Rieger disease severity.. Hum Mutat, 32(10), 1144 - 1152. doi:10.1002/humu.21550
    • Kelberman D, Islam L, Jacques TS, Russell-Eggitt I, Bitner-Glindzicz M, Khaw PT, Nischal KK, Sowden JC (2011). CYP1B1-related anterior segment developmental anomalies novel mutations for infantile glaucoma and von Hippel's ulcer revisited.. doi:10.1016/j.ophtha.2011.01.044
    • Ali RR, Sowden JC (2011). Regenerative medicine: DIY eye.. Nature, 472(7341), 42 - 43. doi:10.1038/472042a
    • Decembrini S, Cananzi M, Gualdoni S, Battersby A, Allen N, Pearson RA, Ali RR, De Coppi P, Sowden JC (2011). Comparative analysis of the retinal potential of embryonic stem cells and amniotic fluid-derived stem cells.. Stem Cells Dev, 20(5), 851 - 863. doi:10.1089/scd.2010.0291
    • Shah SP, Taylor AE, Sowden JC, Ragge NK, Russell-Eggitt I, Rahi JS, Gilbert CE, Surveillance of Eye Anomalies (SEA-UK) Special Interest Group (2011). Anophthalmos, microphthalmos, and typical coloboma in the United Kingdom: a prospective study of incidence and risk.. Invest Ophthalmol Vis Sci, 52(1), 558 - 564. doi:10.1167/iovs.10-5263
    • Mataftsi A, Islam L, Kelberman D, Sowden JC, Nischal KK (2011). Chromosome abnormalities and the genetics of congenital corneal opacification.. Mol Vis, 17, 1624 - 1640.

    2010

    • Mataftsi A, Sowden JC, Nischal KK (2010). Atypical Peters plus syndrome with new associations.. J AAPOS, 14(6), 560 - 561. doi:10.1016/j.jaapos.2010.09.001
    • Lakowski J, Baron M, Bainbridge J, Barber AC, Pearson RA, Ali RR, Sowden JC (2010). Cone and rod photoreceptor transplantation in models of the childhood retinopathy Leber congenital amaurosis using flow-sorted Crx-positive donor cells. Hum.Mol.Genet, 19, 4545 - 4559.
    • Pearson RA, Barber AC, West EL, MacLaren RE, Duran Y, Bainbridge JW, Sowden JC, Ali RR (2010). 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.. Cell Transplant, 19(4), 487 - 503. doi:10.3727/096368909X486057
    • West EL, Gonzalez CA, Pearson RA, Barber A, Sowden JC, Ali RR (2010). Immune Responses Affect the Survival of Integrated Photoreceptor Precursors Transplanted to the Adult Murine Retina.
    • Gualdoni S, Baron M, Lakowski J, Decembrini S, Smith AJ, Pearson RA, Ali RR, Sowden JC (2010). Adult ciliary epithelial cells, previously identified as retinal stem cells with potential for retinal repair, fail to differentiate into new rod photoreceptors.. Stem Cells, 28(6), 1048 - 1059. doi:10.1002/stem.423
    • West EL, Pearson RA, Barker SE, Luhmann UF, Maclaren RE, Barber AC, Duran Y, Smith AJ, Sowden JC, Ali RR (2010). Long-term survival of photoreceptors transplanted into the adult murine neural retina requires immune modulation.. Stem Cells, 28(11), 1997 - 2007. doi:10.1002/stem.520

    2009

    • West EL, Pearson RA, MacLaren RE, Sowden JC, Ali RR (2009). Cell transplantation strategies for retinal repair. doi:10.1016/S0079-6123(09)17501-5
    • Behesti H, Papaioannou VE, Sowden JC (2009). Loss of Tbx2 delays optic vesicle invagination leading to small optic cups. Dev Biol, , - .
    • West EL, Pearson RA, MacLaren RE, Sowden JC, Ali RR (2009). Cell transplantation strategies for retinal repair. Prog.Brain Res., 175, 3 - 21.
    • Barber AC, Bainbridge JWB, Sowden JC, Ali RR, Pearson RA (2009). The role of gliosis and extracellular matrix proteins in rod photoreceptor precursor transplantation in the degenerating retina.
    • Barber AC, MacLaren RE, Bainbridge JWB, Sowden J, Ali RR, Pearson RA (2009). Barriers to Integration of Transplanted Photoreceptor Precursors: Gliosis in Crb1rd8/rd8 and Rho-/- Mouse Models of Retinal Degeneration.
    • Shah SP, Taylor AE, Rahi J, Sowden JC, Ragge N, Russell-Eggitt I, Gilbert CE, SEA-UK Special Interest Group (2009). Congenital Eye Anomalies: An Epidemiological Study in the United Kingdom.
    • Taylor A, Shah S, Rahi J, Sowden J, Russell- Eggitt I, Ragge N, Gilbert C (2009). Typical Coloboma in the UK: A Population Based Study.
    • Park S, Jamshidi Y, Vaideanu D, Bitner-Glindzicz M, Fraser S, Sowden JC (2009). Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypes. Invest Ophthalmol.Vis.Sci., 50(4), 1522 - 1530.
    • Lakowski J, Baron M, Bainbridge J, Barber A, Pearson RA, Ali RR, Sowden JC (2009). Generation of New Cone and Rod Photoreceptors in the Adult Retina by Transplantation of Crx-Positive Precursor Cells.

    2008

    • Kokkinopoulos I, Pearson RA, Macneil A, Dhomen NS, Maclaren RE, Ali RR, Sowden JC (2008). Isolation and characterisation of neural progenitor cells from the adult Chx10(orJ/orJ) central neural retina. Molecular and Cellular Neuroscience, 38(3), 359 - 373. doi:10.1016/j.mcn.2008.03.008
    • West EL, Pearson RA, Tschernutter M, Sowden JC, Maclaren RE, Ali RR (2008). Pharmacological disruption of the outer limiting membrane leads to increased retinal integration of transplanted photoreceptor precursors. Exp.Eye Res., 86(4), 601 - 611.
    • West EL, Pearson RA, Duran Y, Luhmann UFO, Barker SE, Smith AJ, Sowden JC, MacLaren RE, Ali RR (2008). Overexpression of developmentally regulated neurotrophins in the adult mouse retina to facilitate integration of transplanted photoreceptor precursor cells.
    • West EL, Pearson RA, Duran Y, Luhmann UFO, Barker SE, Smith AJ, Sowden JC, MacLaren RE, Ali RR (2008). Over-Expression of Developmentally Regulated Neurotrophins in the Adult Mouse Retina to Facilitate Integration of Transplanted Photoreceptor Precursor Cells.
    • Sowden JC (2008). The Development of the Eye. In Sandring S (Ed.), Gray's Anatomy (pp. - ). : Elsevier.
    • Pocock R, Mione M, Hussain S, Maxwell S, Pontecorvi M, Aslam S, Gerrelli D, Sowden J, Woollard A (2008). Neuronal function of Tbx20 conserved from nematodes to vertebrates. Developmental Biology, 317(2), 671 - 685.
    • Chanda B, Asai-Coakwell M, Sowden JC, Walter MA, Lehmann OJ (2008). A Novel Mechanistic Spectrum Underlies Glaucoma-Associated Chromosome 6p25 Copy Number Variations.
    • Park S, Jamshidi Y, Vaideanu D, Fraser S, Sowden JC (2008). An Investigation of the Developmental Glaucoma Genes as Genetic Risk Factors in Ocular Hypertension and Primary Open Angle Glaucoma.
    • Pearson RA, West EL, Duran Y, Georgiadis A, Barber A, Sowden JC, MacLaren RE, Ali RR (2008). Enhanced Integration of Transplanted Photoreceptor Precursors Following Molecular and Genetic Disruption of the Outer Limiting Membrane.
    • Chanda B, Asai-Coakwell M, Ye M, Mungall AJ, Barrow M, Dobyns WB, Behesti H, Sowden JC, Carter NP, Walter MA, Lehmann OJ (2008). A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation.. Hum Mol Genet, 17(22), 3446 - 3458. doi:10.1093/hmg/ddn238

    2007

    • MacNeil A, Pearson RA, MacLaren RE, Smith AJ, Sowden JC, Ali RR (2007). Comparative analysis of progenitor cells isolated from the iris, pars plana, and ciliary body of the adult porcine eye. Stem Cells, 25(10), 2430 - 2438. doi:10.1634/stemcells.2007-0035
    • Ali RR, Pearson RA, MacLaren RE, West E, MacNeil A, Douglas RH, Salt TE, Akimoto M, Swaroop A, Sowden JC (2007). Kinetics of Rod Photoreceptor Precursor Integration Following Transplantation in the Adult Mouse Retina.
    • MacNeil A, Pearson RA, MacLaren RE, Buch PK, Smith AJ, Sowden JC, Ali RR (2007). Comparative Analysis of Neural Stem Cells Isolated From the Iris, Pars Plana and Ciliary Body of the Porcine Eye.
    • Chanda B, Asai-Coakwell M, Ye M, Sowden JC, Walter MA, Lehmann OJ (2007). Progress Determining the Mechanism of Segmental Duplication and Deletion in Axenfeld Rieger Phenotypes.
    • West EL, Pearson RA, Sowden JC, MacLaren RE, Ali RR (2007). The Outer Limiting Membrane as a Barrier to Photoreceptor Integration, After Transplantation to the Subretinal Space of the Adult Mouse.
    • Chanda B, Asai-Coakwell M, Ye M, Sowden JC, Walter MA, Lehmann OJ (2007). Progress Determining the Mechanism of Segmental Duplication and Deletion in Axenfeld Rieger Phenotypes.
    • MacNeil A, Pearson RA, MacLaren RE, Buch PK, Smith AJ, Sowden JC, Ali RR (2007). Comparative Analysis of Neural Stem Cells Isolated From the Iris, Pars Plana and Ciliary Body of the Porcine Eye.
    • Sowden JC (2007). Molecular and developmental mechanisms of anterior segment dysgenesis. Eye, 21(10), 1310 - 1318.
    • Ali RR, Pearson RA, MacLaren RE, West E, MacNeil A, Douglas RH, Salt TE, Akimoto M, Swaroop A, Sowden JC (2007). Kinetics of Rod Photoreceptor Precursor Integration Following Transplantation in the Adult Mouse Retina.
    • Idrees E, Vaideanu D, Fraser SG, Sowden JC, Khaw PT (2007). Sclerocornea and cornea plana are distinct entities - Reply. SURV OPHTHALMOL, 52(3), 325 - 326. doi:10.1016/j.survophthal.2007.02.002

    2006

    • Behesti H, Holt JKL, Sowden JC (2006). The level of BMP4 signaling is critical for the regulation of distinct T-box gene expression domains and growth along the dorso-ventral axis of the optic cup. BMC Developmental Biology, 6(1), 62 - 84. doi:10.1186/1471-213X-6-62
    • MacLaren RE, Pearson RA, MacNeil A, Douglas RH, Salt TE, Akimoto M, Swaroop A, Sowden JC, Ali RR (2006). Retinal repair by transplantation of photoreceptor precursors.. Nature, 444(7116), 203 - 207. doi:10.1038/nature05161
    • Ali RR, MacLaren RE, Pearson RA, MacNeil A, Sowden JC (2006). Successful Transplantation of Photoreceptors into the Retina of an Adult Mouse Model of Human Retinitis Pigmentosa.
    • Idrees F, Bloch-Zupan A, Free SL, Vaideanu D, Thompson PJ, Ashley PF, Brice G, Rutland P, Bitner-Glindzicz M, Khaw PT, Fraser S, Sisodiya SM, Sowden JC (2006). A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 141B(2), 184 - 191.
    • Ali RR, MacLaren RE, Pearson RA, MacNeil A, Sowden JC (2006). Successful Transplantation of Photoreceptors into the Retina of an Adult Mouse Model of Human Retinitis Pigmentosa.
    • Morcillo J, Martinez-Morales JR, Trousse F, Fermin Y, Sowden JC, Bovolenta P (2006). Proper patterning of the optic fissure requires the sequential activity of BMP7 and SHH. Development, 133(16), 3179 - 3190.
    • Idrees F, Vaideanu D, Fraser SG, Sowden JC, Khaw PT (2006). A review of anterior segment dysgeneses. SURV OPHTHALMOL, 51(3), 213 - 231.
    • Sowden JC (2006). Birth Defects affecting the eye. In Ferretti P, Copp A, Tickle C, Moore G (Ed.), Embryos, Genes and Birth Defects (pp. 199 - 230). : John Wiley and Sons Ltd.
    • Dhomen NS, Balaggan KS, Pearson RA, Bainbridge JW, Levine EM, Ali RR, Sowden JC (2006). Absence of Chx10 causes neural progenitors to persist in the adult retina. Investigative Ophthalmology and Visual Science, 47(1), 386 - 396. doi:10.1167/iovs.05-0428

    2005

    • MacLaren RE, MacNeil A, Pearson RA, Sowden JC, Ali RR (2005). Immature Neural Retinal Cells Integrate and Differentiate Into Photoreceptors When Transplanted Into the Mouse Subreitnal Space at Post-natal Day 1.
    • Taylor D, Sowden JC (2005). Disorders of the Eye as a whole. In Taylor DAH, C S (Ed.), Paediatric Ophthalmology and Strabismus (pp. 192 - 201). : Elsevier Ltd.
    • Sowden JC, Nischal K (2005). Anterior Segment Developmental Anomalies. In Taylor D, Hoyt CS (Ed.), Pediatric Ophthamology and Strabismus (pp. 244 - 264). : Elsevier Ltd.
    • Behesti H, Sowden JC, Papaioannou VE (2005). Analysis of eye development in mice with a targeted mutation of the Tbx2 gene.

    2004

    • Dhomen NS, Balaggan KS, Bainbridge JW, Ali RR, Sowden JC (2004). Chx10 as a regulator of retinal stem cells..
    • Dhomen NS, Balaggan KS, Bainbridge JW, Ali RR, Sowden JC (2004). Chx10 as a regulator of retinal stem cells.
    • Idrees F, Kozlowski K, Fraser S, Khaw P, Sowden JC, Walter MA (2004). Analysis of PITX2 mutations reveals thresholds of PITX2 activity associated with anterior segment dysgenesis.
    • Rutherford AD, Dhomen N, Smith HK, Sowden JC (2004). Delayed expression of the Crx gene and photoreceptor development in the Chx10-deficient retina. Investigative Ophthalmology and Visual Science, 45(2), 375 - 384.
    • Dhomen N, Balaggan K, Bainbridge J, Ali R, Sowden J (2004). Lack of Chx10 causes embryonic retinal progenitors to persist in the adult retina.

    2003

    • Ali RR, Sowden JC (2003). Therapy may yet stem from cells in the retina. Br J Ophthalmol, 87(9), 1058 - 1059.
    • Lehmann OJ, Sowden JC, Carlsson P, Jordan T, Bhattacharya SS (2003). Fox's in development and disease. Trends Genet, 19(6), 339 - 344.
    • Evans BR, Sowden J, Kobayashi I, Holme R, Steel K, Bitner-Glindzicz M (2003). The Expression Pattern of the USH1C Protein in the Mouse Eye Suggests Differences in Usher Type 1 Multi Protein Complex Formation Between the Ear and the Eye.
    • Evans BR, Sowden J, Kobayashi I, Holme R, Steel K, Bitner-Glindzicz M (2003). The Expression Pattern of the USH1C Protein in the Mouse Eye Suggests Differences in Usher Type 1 Multi Protein Complex Formation Between the Ear and the Eye.
    • Chau KY, Manfioletti G, Cheung-Chau KW, Fusco A, Dhomen N, Sowden JC, Sasabe T, Mukai S, Ono SJ (2003). Derepression of HMGA2 gene expression in retinoblastoma is associated with cell proliferation. Mol Med, 9(5-8), 154 - 165.

    2002

    • Lehmann OJ, Ebenezer ND, Ekong R, Ocaka L, Mungall AJ, Fraser S, McGill JI, Hitchings RA, Khaw PT, Sowden JC, Povey S, Walter MA, Bhattacharya SS, Jordan T (2002). Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions. Invest Ophthalmol Vis.Sci, 43(6), 1843 - 1849.
    • Idrees F, Fraser S, Brice G, Childs A, Khaw PT, Willis K, Sowden JC (2002). Identification of PITX2 Mutations in Axenfeld-Rieger Syndrome Patients.
    • Idrees F, Fraser S, Brice G, Childs A, Khaw PT, Willis K, Sowden JC (2002). Identification of PITX2 Mutations in Axenfeld-Rieger Syndrome Patients.

    2001

    • Sowden JC, Holt JK, Meins M, Smith HK, Bhattacharya SS (2001). Expression of Drosophila omb-related T-box genes in the developing human and mouse neural retina. Investigative Ophthalmology and Visual Science, 42(13), 3095 - 3102.
    • Gouge A, Holt J, Hardy AP, Sowden JC, Smith HK (2001). Foxn4--a new member of the forkhead gene family is expressed in the retina. Mech.Dev, 107(1-2), 203 - 206. doi:10.1016/S0925-4773(01)00465-8
    • Lehman OJ, Jordan TL, Ebenezer N, Ocaka L, Hitchings RA, Khaw PT, Sowden JC, Povey S, Walter MA, Bhattacharya SS (2001). Progress with FOXC1 gene dosage.
    • Lehmann OJ, Ebenezer N, Jordan TL, Ekong R, Hitchings RA, Khaw PT, Sowden J, Povey S, Walter MA, Bhattacharya SS (2001). Paired interstitial duplications and deletions: a novel cause of ocular developmental abnormalities and glaucoma.
    • Bibb LC, Holt JKL, Tarttelin E, Lucas R, Hodges M, Gregory-Evans K, Sowden JC, Gregory-Evans CY (2001). Expression of the CRX gene in Human Retina during early eye development.
    • Bibb LC, Holt JKL, Tarttelin E, Hodges M, Gregory-Evans K, Rutherford A, Lucas R, Sowden JC, Gregory-Evans CY (2001). Temporal and spatial expression patterns of the CRX transcription factor and its downstream targets. Critical differences during human and mouse eye development. Human Molecular Genetics, 10(15), 1571 - 1579. doi:10.1093/hmg/10.15.1571
    • Tarttelin E, Gregory-Evans K, Sowden JC, Gregory-Evans CY (2001). Investigation of the role of the EFEMP1 gene in the developing retina and retina disease.

    2000

    • Edwards YH, Drummond F, Sowden J (2000). Regulation of the CA1, CA2 and CA3 genes. In Chegwidden WR, Carter ND, Edwards YH (Ed.), The Carbonic Anhydrases. New Horizons (pp. 121 - 141). : Berkhauser Verlag.
    • Meins M, Henderson DJ, Bhattacharya SS, Sowden JC (2000). Characterization of the human TBX20 gene, a new member of the T-Box gene family closely related to the Drosophila H15 gene. Genomics, 67(3), 317 - 332.
    • Rutherford A, Smith H, Sowden J (2000). Photoreceptor development is delayed and disrupted in the ocular retardation mouse retina.
    • Trump D, Grayson C, Reid SNM, Sowden J (2000). Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein.
    • Grayson C, Reid SN, Ellis JA, Rutherford A, Sowden JC, Yates JR, Farber DB, Trump D (2000). Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells. Hum Mol Genet, 9(12), 1873 - 1879.
    • Bitner-Glindzicz M, Lindley K, Rutland P, Blaydon D, Smith VV, Milla P, Hussain K, Furth-Lavi J, Cosgrove KE, Shepherd RM, Barnes PD, O'Brien RE, Farndon PA, Sowden J, Liu XZ, Scanlan MJ, Malcolm S, Dunne MJ, Aynsley-Green A, Glaser B (2000). A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher Type 1C gene. Nature Genetics, 26, 56 - 60.
    • Trump D, Grayson C, Reid SNM, Rutherford A, Ellis JA, Sowden JC, Farber DB, Yates JRW (2000). Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein.
    • Ferda PE, Ploder LA, Yu JJ, Arici K, Horsford DJ, Rutherford A, Bapat B, Cox DW, Duncan AM, Kalnins VI, Kocak-Altintas A, Sowden JC, Traboulsi E, Sarfarazi M, McInnes RR (2000). Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nat Genet, 25(4), 397 - 401.
    • Gregory-Evans CY, Bibb L, Holt J, Sowden JC, Gregory-Evans K (2000). Expression of the CRX gene in human retina during early eye development..

    1998

    • Drummond FJ, Sowden J, Morrison K, Edwards YH (1998). Colon carbonic anhydrase 1: transactivation of gene expression by the homeodomain protein Cdx2. FEBS Lett, 423(2), 218 - 222.
    • Sowden J, Smith H, Morrison K, Edwards Y (1998). Sequence comparisons and functional studies of the proximal promoter of the carbonic anhydrase 3 (CA3) gene. Gene, 214(1-2), 157 - 165.

    1997

    • Papapetrou C, Edwards YH, Sowden JC (1997). The T transcription factor functions as a dimer and exhibits a common human polymorphism Gly-177-Asp in the conserved DNA binding domain. FEBS LETTS, 409, 201 - 206.
    • Sowden JC, Morrison K, Putt W, Beddington R, Edwards YH (1997). The identification of novel gene sequences expressed in the mouse notochord. Mammalian Genome, 8, 42 - 44.

    1996

    • Edwards YH, Putt W, Lekoape KM, Stott D, Fox M, Hopkinson DA, Sowden J (1996). The human homolog T of the mouse T(Brachyury) gene; gene structure, cDNA sequence, and assignment to chromosome 6q27. Genome Res, 6(3), 226 - 233.
    • Drummond F, Sowden J, Morrison K, Edwards YH (1996). The caudal-type homeobox protein Cdx-2 binds to the colon promoter of the carbonic anhydrase 1 gene. Eur J Biochem., 236(2), 670 - 681.
    • Morrison K, Papapetrou C, Attwood J, Hol F, Lynch SA, Sampath A, Hamel B, Burn J, Sowden J, Stott D, Mariman E, Edwards YH (1996). Genetic mapping of the human homologue (T) of mouse T(Brachyury) and a search for allele association between human T and spina bifida. Hum Mol Genet, 5(5), 669 - 674.

    1995

    • Sowden J, Putt W, Morrison K, Beddington R, Edwards Y (1995). The embryonic RNA helicase gene (ERH): a new member of the DEAD box family of RNA helicases. Biochem.J, 308 ( Pt 3), 839 - 846.
    • Sowden J, Morrison K, Schofield J, Putt W, Edwards Y (1995). A novel cDNA with homology to an RNA polymerase II elongation factor maps to human chromosome 5q31 (TCEB1L) and to mouse chromosome 11 (Tceb1l). Genomics, 29(1), 145 - 151.

    1993

    • Sowden J, Leigh S, Talbot I, Delhanty J, Edwards Y (1993). Expression from the proximal promoter of the carbonic anhydrase 1 gene as a marker for differentiation in colon epithelia. Differentiation, 53(2), 67 - 74.

    1992

    • Sowden J, Edwards M, Morrison K, Butterworth PH, Edwards YH (1992). Erythroid expression and DNAaseI-hypersensitive sites of the carbonic anhydrase 1 gene. Biochem.J, 288 ( Pt 2), 545 - 551.

    1991

    • Sowden J (1991). Transcriptional control mechanisms regulating erythroid-specific expression of the carbonic anhydrase 1 gene.
    • Brady HJ, Lowe N, Sowden JC, Edwards M, Butterworth PH (1991). The human carbonic anhydrase I gene has two promoters with different tissue specificities. Biochem.J, 277 ( Pt 3), 903 - 905.

    1990

    • Lowe N, Brady HJ, Barlow JH, Sowden JC, Edwards M, Butterworth PH (1990). Structure and methylation patterns of the gene encoding human carbonic anhydrase I.. Gene, 93(2), 277 - 283.
    • Butterworth PHW, Barlow J, Brady HJM, Edwards M, Lowe N, Sowden JC (1990). The structure and regulation of the human carbonic anhydrase I gene. In (Ed.), (pp. - ). : Plenum publishing Corp..
    • Lowe N, Brady HJ, Barlow JH, Sowden JC, Edwards M, Butterworth PH (1990). Structure and methylation patterns of the gene encoding human carbonic anhydrase I. Gene, 93(2), 277 - 283.

    1989

    • BRADY HJM, LOWE N, SOWDEN JC, BARLOW JH, BUTTERWORTH PHW (1989). AN UNUSUAL 5'-LEADER IN THE HUMAN ERYTHROID-SPECIFIC CARBONIC ANHYDRASE-I GENE. BIOCHEM SOC T, 17(1), 184 - 185.
    • Brady HJ, Sowden JC, Edwards M, Lowe N, Butterworth PH (1989). Multiple GF-1 binding sites flank the erythroid specific transcription unit of the human carbonic anhydrase I gene.. FEBS Lett, 257(2), 451 - 456.
    • Brady HJ, Sowden JC, Edwards M, Lowe N, Butterworth PH (1989). Multiple GF-1 binding sites flank the erythroid specific transcription unit of the human carbonic anhydrase I gene. FEBS Lett, 257(2), 451 - 456.

    • West EL, Pearson RA, Barber A, Duran Y, Sowden JC, Ali RR (). Immune Responses Affect the Survival of Integrated Photoreceptor Precursors Transplanted to the Adult Murine Retina.
    • Barber AC, Hippert C, West EL, Duran Y, Bainbridge JWB, Warre-Cornish K, Luhmann UFO, Lakowski J, Sowden JC, Ali RR, Pearson RA (). Repair of the degenerate retina by photoreceptor transplantation. Proceedings of the National Academy of Sciences of USA, , - .
    • Warre Cornish KM, Barber AC, Sowden JC, Ali RR, Pearson RA (). Kinetics of Integration Following Transplantation of Photoreceptor Precursors Into Adult Mice.
    • Baron M, Lakowski J, Bainbridge JW, Barber A, Pearson RA, Ali RR, Sowden JC (). Generation of New Cone and Rod Photoreceptors in Models of Retinal Degeneration by Transplantation of Crx-Positive Precursor Cells.