List of works - Jane Sowden

A molecular and cellular analysis of human embryonic optic fissure closure related to the eye malformation coloboma

scientific article published on 06 November 2020

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

scientific article published on 6 November 2013

A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes.

scientific article published in March 2006

A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation

scientific article published on 11 August 2008

A review of anterior segment dysgeneses.

scientific article

A single-cell transcriptome atlas of the adult human retina

scientific article published on 22 August 2019

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

scientific article

ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous

scientific article

Absence of chx10 causes neural progenitors to persist in the adult retina

scientific journal article

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

scientific article published in June 2010

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

scientific article

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

scientific article

Atypical Peters plus syndrome with new associations

scientific article published on 01 December 2010

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

scientific article published in February 2013

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

scientific article published on 20 May 2011

Cell transplantation strategies for retinal repair.

scientific article published on January 2009

Characterisation and validation of insertions and deletions in 173 patient exomes

scientific article

Chromosome abnormalities and the genetics of congenital corneal opacification

scientific article

Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches.

scientific article published on 18 January 2017

Colon carbonic anhydrase 1: transactivation of gene expression by the homeodomain protein Cdx2 ⬇️

scientific article published on February 20, 1998

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

scientific article

Comparative analysis of progenitor cells isolated from the iris, pars plana, and ciliary body of the adult porcine eye.

scientific article published on 28 June 2007

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

scientific article published on 6 December 2010

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

scientific article published on 19 February 2019

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

scientific article

DIY eye

scientific article published in Nature

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

scientific article published on July 2012

Delayed expression of the Crx gene and photoreceptor development in the Chx10-deficient retina

scientific article published in February 2004

Derepression of HMGA2 gene expression in retinoblastoma is associated with cell proliferation

scientific article

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

scientific article published on 4 June 2019

Developing stem cell therapy for retinal dystrophies.

scientific article published on 13 July 2015

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

scientific article published on 25 May 2017

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

scientific article published on 8 September 2011

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

scientific article

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

scientific article published on 06 November 2014

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

scientific article published in September 2011

Erythroid expression and DNAaseI-hypersensitive sites of the carbonic anhydrase 1 gene ⬇️

scientific article published on December 1, 1992

Expression of Drosophila omb-related T-box genes in the developing human and mouse neural retina.

scientific article

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

scientific article published in July 2012

Fox's in development and disease

scientific article

Foxn4--a new member of the forkhead gene family is expressed in the retina.

scientific article published in September 2001

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

scientific article

Generation of a cone photoreceptor specific GNGT2 reporter line in human pluripotent stem cells

scientific article

Genes and pathways in optic fissure closure

scientific article published on 29 November 2017

Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypes

scientific article

Human microphthalmia associated with mutations in the retinal homeobox gene CHX10

scientific article (publication date: August 2000)

Impact of sight and hearing loss in patients with Norrie disease: advantages of Dual Sensory clinics in patient care

scientific article published on 16 November 2020

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

scientific article published on 30 March 2016

Induced pluripotent stem cell technology for generating photoreceptors.

scientific article published on July 2011

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

scientific article

Isolation and characterisation of neural progenitor cells from the adult Chx10(orJ/orJ) central neural retina.

scientific article published on 10 April 2008

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

scientific article published in December 2011

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

scientific article published on 12 January 2018

Light-Adapted Electroretinogram Differences in Autism Spectrum Disorder

scientific article published on 07 February 2020

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

scientific article published on November 2010

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

scientific article published on July 2009

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

scientific article published on 18 February 2014

Molecular and developmental mechanisms of anterior segment dysgenesis.

scientific article published on October 2007

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

scientific article

Mutation of SALL2 causes recessive ocular coloboma in humans and mice

scientific article

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

scientific journal article

NRL<sup>-/-</sup> gene edited human embryonic stem cells generate rod-deficient retinal organoids enriched in S-cone-like photoreceptors

scientific article published on 05 January 2021

Neuronal function of Tbx20 conserved from nematodes to vertebrates.

scientific article published on 21 February 2008

Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions.

scientific article

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

scientific article

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

scientific article published on 21 July 2013

Proper patterning of the optic fissure requires the sequential activity of BMP7 and SHH

scientific journal article

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

scientific article

Repair of the degenerate retina by photoreceptor transplantation.

scientific article published on 17 December 2012

Restoration of vision after transplantation of photoreceptors

scientific article published on May 2012

Restoring Vision Using Stem Cells and Transplantation

scientific article published on 01 January 2019

Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells

scientific article

Sequence comparisons and functional studies of the proximal promoter of the carbonic anhydrase 3 (CA3) gene ⬇️

scientific article published on July 3, 1998

Spectrum of Mutations in <i>NDP</i> Resulting in Ocular Disease; a Systematic Review

publication published on 16 May 2022

Structure and methylation patterns of the gene encoding human carbonic anhydrase I

scientific journal article

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.

scientific article

Temporal and spatial expression patterns of the CRX transcription factor and its downstream targets. Critical differences during human and mouse eye development

scientific article (publication date: 15 July 2001)

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

scientific article published on 14 January 2019

The T transcription factor functions as a dimer and exhibits a common human polymorphism Gly-177-Asp in the conserved DNA-binding domain

scientific article published on 01 June 1997

The identification of novel sequences expressed in the mouse notochord.

scientific article published in January 1997

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

scientific article

The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention

scientific article published in 2022

Therapy may yet stem from cells in the retina.

scientific article published on September 2003

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

scientific article published on 27 May 2015

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

scientific article published on 4 January 2018

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

scientific journal article

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

scientific article

List of works by Jane Sowden

A molecular and cellular analysis of human embryonic optic fissure closure related to the eye malformation coloboma

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

A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes.

A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation

A review of anterior segment dysgeneses.

A single-cell transcriptome atlas of the adult human retina

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

ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous

Absence of chx10 causes neural progenitors to persist in the adult retina

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

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

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

Atypical Peters plus syndrome with new associations

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

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

Cell transplantation strategies for retinal repair.

Characterisation and validation of insertions and deletions in 173 patient exomes

Chromosome abnormalities and the genetics of congenital corneal opacification

Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches.

Colon carbonic anhydrase 1: transactivation of gene expression by the homeodomain protein Cdx2 ⬇️

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

Comparative analysis of progenitor cells isolated from the iris, pars plana, and ciliary body of the adult porcine eye.

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

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

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

DIY eye

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

Delayed expression of the Crx gene and photoreceptor development in the Chx10-deficient retina

Derepression of HMGA2 gene expression in retinoblastoma is associated with cell proliferation

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

Developing stem cell therapy for retinal dystrophies.

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

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

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

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

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

Erythroid expression and DNAaseI-hypersensitive sites of the carbonic anhydrase 1 gene ⬇️

Expression of Drosophila omb-related T-box genes in the developing human and mouse neural retina.

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

Fox's in development and disease

Foxn4--a new member of the forkhead gene family is expressed in the retina.

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

Generation of a cone photoreceptor specific GNGT2 reporter line in human pluripotent stem cells

Genes and pathways in optic fissure closure

Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypes

Human microphthalmia associated with mutations in the retinal homeobox gene CHX10

Impact of sight and hearing loss in patients with Norrie disease: advantages of Dual Sensory clinics in patient care

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

Induced pluripotent stem cell technology for generating photoreceptors.

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

Isolation and characterisation of neural progenitor cells from the adult Chx10(orJ/orJ) central neural retina.

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

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

Light-Adapted Electroretinogram Differences in Autism Spectrum Disorder

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

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

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

Molecular and developmental mechanisms of anterior segment dysgenesis.

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

Mutation of SALL2 causes recessive ocular coloboma in humans and mice

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

NRL<sup>-/-</sup> gene edited human embryonic stem cells generate rod-deficient retinal organoids enriched in S-cone-like photoreceptors

Neuronal function of Tbx20 conserved from nematodes to vertebrates.

Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions.

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

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

Proper patterning of the optic fissure requires the sequential activity of BMP7 and SHH

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

Repair of the degenerate retina by photoreceptor transplantation.

Restoration of vision after transplantation of photoreceptors

Restoring Vision Using Stem Cells and Transplantation

Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells

Sequence comparisons and functional studies of the proximal promoter of the carbonic anhydrase 3 (CA3) gene ⬇️

Spectrum of Mutations in <i>NDP</i> Resulting in Ocular Disease; a Systematic Review

Structure and methylation patterns of the gene encoding human carbonic anhydrase I

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.

Temporal and spatial expression patterns of the CRX transcription factor and its downstream targets. Critical differences during human and mouse eye development

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

The T transcription factor functions as a dimer and exhibits a common human polymorphism Gly-177-Asp in the conserved DNA-binding domain