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  1. Article ; Online: Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3): Role in Retinal Development and Disease.

    Toms, Maria / Ward, Natasha / Moosajee, Mariya

    Genes

    2023  Volume 14, Issue 7

    Abstract: ... ...

    Abstract NR2E3
    MeSH term(s) Animals ; Mice ; Orphan Nuclear Receptors/genetics ; Orphan Nuclear Receptors/metabolism ; Retina/pathology ; Retinal Cone Photoreceptor Cells/physiology ; Retinal Degeneration/pathology ; Humans
    Chemical Substances Nr2e3 protein, mouse ; Orphan Nuclear Receptors
    Language English
    Publishing date 2023-06-23
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2527218-4
    ISSN 2073-4425 ; 2073-4425
    ISSN (online) 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes14071325
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3): Role in Retinal Development and Disease

    Toms, Maria / Ward, Natasha / Moosajee, Mariya

    Genes (Basel). 2023 June 23, v. 14, no. 7

    2023  

    Abstract: NR2E3 is a nuclear hormone receptor gene required for the correct development of the retinal rod photoreceptors. Expression of NR2E3 protein in rod cell precursors suppresses cone-specific gene expression and, in concert with other transcription factors ... ...

    Abstract NR2E3 is a nuclear hormone receptor gene required for the correct development of the retinal rod photoreceptors. Expression of NR2E3 protein in rod cell precursors suppresses cone-specific gene expression and, in concert with other transcription factors including NRL, activates the expression of rod-specific genes. Pathogenic variants involving NR2E3 cause a spectrum of retinopathies, including enhanced S-cone syndrome, Goldmann–Favre syndrome, retinitis pigmentosa, and clumped pigmentary retinal degeneration, with limited evidence of genotype–phenotype correlations. A common feature of NR2E3-related disease is an abnormally high number of cone photoreceptors that are sensitive to short wavelength light, the S-cones. This characteristic has been supported by mouse studies, which have also revealed that loss of Nr2e3 function causes photoreceptors to develop as cells that are intermediate between rods and cones. While there is currently no available cure for NR2E3-related retinopathies, there are a number of emerging therapeutic strategies under investigation, including the use of viral gene therapy and gene editing, that have shown promise for the future treatment of patients with NR2E3 variants and other inherited retinal diseases. This review provides a detailed overview of the current understanding of the role of NR2E3 in normal development and disease, and the associated clinical phenotypes, animal models, and therapeutic studies.
    Keywords gene expression ; gene therapy ; genes ; genotype-phenotype correlation ; hormone receptors ; mice ; retinitis pigmentosa ; wavelengths
    Language English
    Dates of publication 2023-0623
    Publishing place Multidisciplinary Digital Publishing Institute
    Document type Article ; Online
    ZDB-ID 2527218-4
    ISSN 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes14071325
    Database NAL-Catalogue (AGRICOLA)

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  3. Article ; Online: Involvement of Oxidative and Endoplasmic Reticulum Stress in

    Sarkar, Hajrah / Toms, Maria / Moosajee, Mariya

    International journal of molecular sciences

    2021  Volume 22, Issue 16

    Abstract: Retinol dehydrogenase 12 (RDH12) is expressed in photoreceptor inner segments and catalyses the reduction of all-trans retinal (atRAL) to all-trans retinol (atROL), as part of the visual cycle. Mutations ... ...

    Abstract Retinol dehydrogenase 12 (RDH12) is expressed in photoreceptor inner segments and catalyses the reduction of all-trans retinal (atRAL) to all-trans retinol (atROL), as part of the visual cycle. Mutations in
    MeSH term(s) Alcohol Oxidoreductases/antagonists & inhibitors ; Alcohol Oxidoreductases/genetics ; Alcohol Oxidoreductases/metabolism ; Animals ; Apoptosis ; Autophagy ; CRISPR-Cas Systems ; Endoplasmic Reticulum Stress ; HEK293 Cells ; Humans ; Mutation ; Oxidative Stress ; Retinal Diseases/etiology ; Retinal Diseases/metabolism ; Retinal Diseases/pathology ; Zebrafish
    Chemical Substances Alcohol Oxidoreductases (EC 1.1.-) ; RDH12 protein, human (EC 1.1.1.105)
    Language English
    Publishing date 2021-08-18
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms22168863
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: The Landscape of Non-Viral Gene Augmentation Strategies for Inherited Retinal Diseases.

    Toualbi, Lyes / Toms, Maria / Moosajee, Mariya

    International journal of molecular sciences

    2021  Volume 22, Issue 5

    Abstract: Inherited retinal diseases (IRDs) are a heterogeneous group of disorders causing progressive loss of vision, affecting approximately one in 1000 people worldwide. Gene augmentation therapy, which typically involves using adeno-associated viral vectors ... ...

    Abstract Inherited retinal diseases (IRDs) are a heterogeneous group of disorders causing progressive loss of vision, affecting approximately one in 1000 people worldwide. Gene augmentation therapy, which typically involves using adeno-associated viral vectors for delivery of healthy gene copies to affected tissues, has shown great promise as a strategy for the treatment of IRDs. However, the use of viruses is associated with several limitations, including harmful immune responses, genome integration, and limited gene carrying capacity. Here, we review the advances in non-viral gene augmentation strategies, such as the use of plasmids with minimal bacterial backbones and scaffold/matrix attachment region (S/MAR) sequences, that have the capability to overcome these weaknesses by accommodating genes of any size and maintaining episomal transgene expression with a lower risk of eliciting an immune response. Low retinal transfection rates remain a limitation, but various strategies, including coupling the DNA with different types of chemical vehicles (nanoparticles) and the use of electrical methods such as iontophoresis and electrotransfection to aid cell entry, have shown promise in preclinical studies. Non-viral gene therapy may offer a safer and effective option for future treatment of IRDs.
    MeSH term(s) Animals ; Gene Transfer Techniques ; Genetic Diseases, Inborn/genetics ; Genetic Diseases, Inborn/therapy ; Genetic Therapy ; Genetic Vectors/therapeutic use ; Humans ; Retinal Diseases/genetics ; Retinal Diseases/therapy
    Language English
    Publishing date 2021-02-26
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms22052318
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Community matrons' views of readmission.

    Toms, Michaela

    Nursing times

    2013  Volume 109, Issue 19, Page(s) 24–26

    Abstract: Readmission to hospital is an expensive but common occurrence, estimated to cost the NHS approximately pound1.6bn a year. This study analyses the opinions of community matrons who proactively manage NHS service users who are frequently admitted to ... ...

    Abstract Readmission to hospital is an expensive but common occurrence, estimated to cost the NHS approximately pound1.6bn a year. This study analyses the opinions of community matrons who proactively manage NHS service users who are frequently admitted to hospital. The study design was qualitative and used a phenomenological approach. A semi-structured interview was used to collect data, which was then analysed. Three themes emerged: exacerbation of chronic obstructive pulmonary disease linked to depression and anxiety; poor concordance with medication; and being discharged too early, for example, when not medically fit. The findings of this study back up evidence that more effective support of psychological and mental health needs of people with long-term conditions can lead to improvements in physical as well as mental health.
    MeSH term(s) Community Health Nursing ; Patient Readmission ; United Kingdom
    Language English
    Publishing date 2013-05
    Publishing country England
    Document type Journal Article
    ZDB-ID 391202-4
    ISSN 0954-7762 ; 0029-6589
    ISSN 0954-7762 ; 0029-6589
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Gene Augmentation of CHM Using Non-Viral Episomal Vectors in Models of Choroideremia.

    Toualbi, Lyes / Toms, Maria / Almeida, Patrick Vingadas / Harbottle, Richard / Moosajee, Mariya

    International journal of molecular sciences

    2023  Volume 24, Issue 20

    Abstract: Choroideremia (CHM) is an X-linked chorioretinal dystrophy leading to progressive retinal degeneration that results in blindness by late adulthood. It is caused by mutations in ... ...

    Abstract Choroideremia (CHM) is an X-linked chorioretinal dystrophy leading to progressive retinal degeneration that results in blindness by late adulthood. It is caused by mutations in the
    MeSH term(s) Animals ; Humans ; Adult ; Choroideremia/genetics ; Choroideremia/therapy ; Choroideremia/metabolism ; Zebrafish/genetics ; Zebrafish/metabolism ; Retina/metabolism ; Mutation ; Retinal Dystrophies/metabolism ; Plasmids ; Adaptor Proteins, Signal Transducing/genetics ; Adaptor Proteins, Signal Transducing/metabolism
    Chemical Substances CHM protein, human ; Adaptor Proteins, Signal Transducing
    Language English
    Publishing date 2023-10-16
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms242015225
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Successful large gene augmentation of USH2A with non-viral episomal vectors.

    Toms, Maria / Toualbi, Lyes / Almeida, Patrick V / Harbottle, Richard / Moosajee, Mariya

    Molecular therapy : the journal of the American Society of Gene Therapy

    2023  Volume 31, Issue 9, Page(s) 2755–2766

    Abstract: USH2A mutations are a common cause of autosomal recessive retinitis pigmentosa (RP) and Usher syndrome, for which there are currently no approved treatments. Gene augmentation is a valuable therapeutic strategy for treating many inherited retinal ... ...

    Abstract USH2A mutations are a common cause of autosomal recessive retinitis pigmentosa (RP) and Usher syndrome, for which there are currently no approved treatments. Gene augmentation is a valuable therapeutic strategy for treating many inherited retinal diseases; however, conventional adeno-associated virus (AAV) gene therapy cannot accommodate cDNAs exceeding 4.7 kb, such as the 15.6-kb-long USH2A coding sequence. In the present study, we adopted an alternative strategy to successfully generate scaffold/matrix attachment region (S/MAR) DNA plasmid vectors containing the full-length human USH2A coding sequence, a GFP reporter gene, and a ubiquitous promoter (CMV or CAG), reaching a size of approximately 23 kb. We assessed the vectors in transfected HEK293 cells and USH2A patient-derived dermal fibroblasts in addition to ush2a
    MeSH term(s) Animals ; Humans ; Usher Syndromes/genetics ; Usher Syndromes/therapy ; Zebrafish/genetics ; HEK293 Cells ; Mutation ; DNA ; Plasmids/genetics ; Extracellular Matrix Proteins/genetics
    Chemical Substances DNA (9007-49-2) ; Extracellular Matrix Proteins ; USH2A protein, human
    Language English
    Publishing date 2023-06-19
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2010592-7
    ISSN 1525-0024 ; 1525-0016
    ISSN (online) 1525-0024
    ISSN 1525-0016
    DOI 10.1016/j.ymthe.2023.06.012
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

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  8. Article ; Online: Usher syndrome: clinical features, molecular genetics and advancing therapeutics.

    Toms, Maria / Pagarkar, Waheeda / Moosajee, Mariya

    Therapeutic advances in ophthalmology

    2020  Volume 12, Page(s) 2515841420952194

    Abstract: Usher syndrome has three subtypes, each being clinically and genetically heterogeneous characterised by sensorineural hearing loss and retinitis pigmentosa (RP), with or without vestibular dysfunction. It is the most common cause of deaf-blindness ... ...

    Abstract Usher syndrome has three subtypes, each being clinically and genetically heterogeneous characterised by sensorineural hearing loss and retinitis pigmentosa (RP), with or without vestibular dysfunction. It is the most common cause of deaf-blindness worldwide with a prevalence of between 4 and 17 in 100 000. To date, 10 causative genes have been identified for Usher syndrome, with
    Language English
    Publishing date 2020-09-17
    Publishing country United States
    Document type Journal Article ; Review
    ISSN 2515-8414
    ISSN (online) 2515-8414
    DOI 10.1177/2515841420952194
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article: The Use of Induced Pluripotent Stem Cells as a Model for Developmental Eye Disorders.

    Eintracht, Jonathan / Toms, Maria / Moosajee, Mariya

    Frontiers in cellular neuroscience

    2020  Volume 14, Page(s) 265

    Abstract: Approximately one-third of childhood blindness is attributed to developmental eye disorders, of which 80% have a genetic cause. Eye morphogenesis is tightly regulated by a highly conserved network of transcription factors when disrupted by genetic ... ...

    Abstract Approximately one-third of childhood blindness is attributed to developmental eye disorders, of which 80% have a genetic cause. Eye morphogenesis is tightly regulated by a highly conserved network of transcription factors when disrupted by genetic mutations can result in severe ocular malformation. Human-induced pluripotent stem cells (hiPSCs) are an attractive tool to study early eye development as they are more physiologically relevant than animal models, can be patient-specific and their use does not elicit the ethical concerns associated with human embryonic stem cells. The generation of self-organizing hiPSC-derived optic cups is a major advancement to understanding mechanisms of ocular development and disease. Their development
    Language English
    Publishing date 2020-08-20
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2452963-1
    ISSN 1662-5102
    ISSN 1662-5102
    DOI 10.3389/fncel.2020.00265
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: USH2A-retinopathy: From genetics to therapeutics.

    Toualbi, Lyes / Toms, Maria / Moosajee, Mariya

    Experimental eye research

    2020  Volume 201, Page(s) 108330

    Abstract: Bilallelic variants in the USH2A gene can cause Usher syndrome type 2 and non-syndromic retinitis pigmentosa. In both disorders, the retinal phenotype involves progressive rod photoreceptor loss resulting in nyctalopia and a constricted visual field, ... ...

    Abstract Bilallelic variants in the USH2A gene can cause Usher syndrome type 2 and non-syndromic retinitis pigmentosa. In both disorders, the retinal phenotype involves progressive rod photoreceptor loss resulting in nyctalopia and a constricted visual field, followed by subsequent cone degeneration, leading to the loss of central vision and severe visual impairment. The USH2A gene raises many challenges for researchers and clinicians due to a broad spectrum of mutations, a large gene size hampering gene therapy development and limited knowledge on its pathogenicity. Patients with Usher type 2 may benefit from hearing aids or cochlear implants to correct their hearing defects, but there are currently no approved treatments available for the USH2A-retinopathy. Several treatment strategies, including antisense oligonucleotides and translational readthrough inducing drugs, have shown therapeutic promise in preclinical studies. Further understanding of the pathogenesis and natural history of USH2A-related disorders is required to develop innovative treatments and design clinical trials based on reliable outcome measures. The present review will discuss the current knowledge about USH2A, the emerging therapeutics and existing challenges.
    MeSH term(s) DNA/genetics ; DNA Mutational Analysis ; Disease Management ; Electroretinography ; Extracellular Matrix Proteins/genetics ; Extracellular Matrix Proteins/metabolism ; Genotype ; Humans ; Mutation ; Phenotype ; Retinal Cone Photoreceptor Cells/metabolism ; Retinal Cone Photoreceptor Cells/pathology ; Retinal Diseases/genetics ; Retinal Diseases/metabolism ; Retinal Diseases/therapy
    Chemical Substances Extracellular Matrix Proteins ; USH2A protein, human ; DNA (9007-49-2)
    Language English
    Publishing date 2020-10-27
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 80122-7
    ISSN 1096-0007 ; 0014-4835
    ISSN (online) 1096-0007
    ISSN 0014-4835
    DOI 10.1016/j.exer.2020.108330
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 163: Show issues Location:
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