Zobrazeno 1 - 10
of 309
pro vyhledávání: '"Maria Toms"'
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 20, p 15225 (2023)
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 CHM gene encoding the Rab Escort Protein 1 (REP1), which plays a cruc
Externí odkaz:
https://doaj.org/article/2183782facfc484d9a8be6e602ce9bd2
Publikováno v:
Genes, Vol 14, Iss 7, p 1325 (2023)
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 fact
Externí odkaz:
https://doaj.org/article/5ca1629cb59c457ebffcf2030ec842fc
Autor:
Violeta Trejo-Reveles, Nicholas Owen, Brian Ho Ching Chan, Maria Toms, Jeffrey J. Schoenebeck, Mariya Moosajee, Joe Rainger
Publikováno v:
Biomolecules, Vol 13, Iss 2, p 293 (2023)
Ocular coloboma (OC) is a failure of complete optic fissure closure during embryonic development and presents as a tissue defect along the proximal–distal axis of the ventral eye. It is classed as part of the clinical spectrum of structural eye mal
Externí odkaz:
https://doaj.org/article/70121b3fb3cf460a85da815051afe8ee
Publikováno v:
Cells, Vol 11, Iss 22, p 3542 (2022)
Mitochondria are essential adenosine triphosphate (ATP)-generating cellular organelles. In the retina, they are highly numerous in the photoreceptors and retinal pigment epithelium (RPE) due to their high energetic requirements. Fission and fusion of
Externí odkaz:
https://doaj.org/article/034e7fbc6bdd484ca49e90148366b252
Publikováno v:
Therapeutic Advances in Ophthalmology, Vol 12 (2020)
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
Externí odkaz:
https://doaj.org/article/16c8d3d14d3444c4b978e81caede930b
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 14 (2020)
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 mu
Externí odkaz:
https://doaj.org/article/529a99bdd3654ca19498c10da59820a3
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 16, p 8863 (2021)
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 RDH12 are primarily associated with autosom
Externí odkaz:
https://doaj.org/article/b5b7e2ddb8bf48c6b6a8c301e4e8e859
Autor:
Philippa Harding, Maria Toms, Elena Schiff, Nicholas Owen, Suzannah Bell, Ian Christopher Lloyd, Mariya Moosajee
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 4, p 2190 (2021)
EPHA2 is a transmembrane tyrosine kinase receptor that, when disrupted, causes congenital and age-related cataracts. Cat-Map reports 22 pathogenic EPHA2 variants associated with congenital cataracts, variable microcornea, and lenticonus, but no previ
Externí odkaz:
https://doaj.org/article/63dca7666c9d444a8e6b6dff49f473a9
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 5, p 2318 (2021)
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 vector
Externí odkaz:
https://doaj.org/article/cc208ba23c324ba781726ae65dce6b3e
Autor:
Adam M Dubis, Wei S Lim, Jasleen K Jolly, Maria Toms, Robert E MacLaren, Andrew R Webster, Mariya Moosajee
Publikováno v:
Journal of Clinical Medicine, Vol 10, Iss 2, p 232 (2021)
Background: Characterisation of preserved autofluorescence (PAF) area in choroideremia (CHM) and its validity for monitoring disease progression in clinical trials is of importance. Methods: Eighty patients with molecularly confirmed CHM were recruit
Externí odkaz:
https://doaj.org/article/0d1098164be44558a3dc8c21b525db09