Výsledky vyhledávání - "Rachel L, Gillespie"

Scrib:Rac1 interactions are required for the morphogenesis of the ventricular myocardium

Autor: Simon A. Ramsbottom, Patrick O. Humbert, Charlotte Donald-Wilson, Rachel L. Gillespie, Mariana Al Nazer, Deborah J. Henderson, Veronika Boczonadi, Iain D. Keenan, Bill Chaudhry, Robert J. Schwarz

Publikováno v: Cardiovascular Research
Boczonadi, V, Taylor, R L, Keenan, I, Ramsbottom, S, Donald-Wilson, C, Al-Nazer, M, Humbert, P, Schwartz, R J, Chaudhry, B & Henderson, D J 2014, ' Scrib:Rac1 interactions are required for the morphogenesis of the ventricular myocardium ', Cardiovascular research, vol. 104, no. 1, 104, pp. 103 . https://doi.org/10.1093/cvr/cvu193

AIMS:The organization and maturation of ventricular cardiomyocytes from the embryonic to the adult form is crucial for normal cardiac function. We have shown that a polarity protein, Scrib, may be involved in regulating the early stages of this proce

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3251898e5d549c9497c7586b6ac8ab9f
https://doi.org/10.1093/cvr/cvu193

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The Use of Autozygosity Mapping and Next-Generation Sequencing in Understanding Anterior Segment Defects Caused by an Abnormal Development of the Lens

Autor: I. Christopher Lloyd, Graeme C.M. Black, Rachel L. Gillespie

Publikováno v: Human Heredity. 77:118-137

The formation of the anterior segment of the eye is an intricate process that is dependent to a large degree on the normal development of the lens. Despite intensive study of the role of well-described eye genes, many causes of lenticular and anterio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11a185b5539bf5078f4da7d7def11507
https://doi.org/10.1159/000362599

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Genetic testing for inherited ocular disease: delivering on the promise at last?

Autor: Graeme C.M. Black, Georgina Hall, Rachel L. Gillespie

Publikováno v: Clinical & Experimental Ophthalmology. 42:65-77

Genetic testing is of increasing clinical utility for diagnosing inherited eye disease. Clarifying a clinical diagnosis is important for accurate estimation of prognosis, facilitating genetic counselling and management of families, and in the future

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::14bcb36657274bf1a6e23e59c412acbc
https://doi.org/10.1111/ceo.12159

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The Role of Molecular Genetics in the Assessment of Children with Congenital Cataract

Autor: Rachel L. Gillespie, Graeme C.M. Black

Publikováno v: Congenital Cataract ISBN: 9783319278469

The crystalline lens of the eye has long been a model system for the complexities of tissue induction and morphogenesis as well as cell specification and differentiation. The unique protein content of the lens has also been the subject of intensive s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a74fe32baccce77a3122e0f4d3e4c29d
https://doi.org/10.1007/978-3-319-27848-3_3

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Molecular findings from 537 individuals with inherited retinal disease

Autor: Jamie M, Ellingford, Stephanie, Barton, Sanjeev, Bhaskar, James, O'Sullivan, Simon G, Williams, Janine A, Lamb, Binay, Panda, Panagiotis I, Sergouniotis, Rachel L, Gillespie, Stephen P, Daiger, Georgina, Hall, Theodora, Gale, I Christopher, Lloyd, Paul N, Bishop, Simon C, Ramsden, Graeme C M, Black

Publikováno v: Journal of Medical Genetics

Background Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous set of disorders, for which diagnostic second-generation sequencing (next-generation sequencing, NGS) services have been developed worldwide. Methods We prese

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d0c629df9fc5ab51beb99c3f85212433
https://pubmed.ncbi.nlm.nih.gov/27208204

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Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach

Autor: Sofia Douzgou, M. Musleh, E. Kehdi, Graeme C.M. Black, I. C. Lloyd, Georgina Hall, Jill Clayton-Smith, Rachel L. Gillespie, Jane Ashworth, Sue Waller

Publikováno v: Eye (London, England). 30(9)

PurposeIn addition to environmental causes such as TORCH infection, trauma and drug or chemical exposure, childhood cataracts (CC) frequently have a genetic basis. They may be isolated or syndromic and have been associated with mutations in over 110

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9da0ffd45eafca978c660c769859203
https://pubmed.ncbi.nlm.nih.gov/27315345

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Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy

Autor: Simon C. Lovell, Daniel F. Schorderet, Jill E. Urquhart, Neil R. A. Parry, Susmito Biswas, I. Christopher Lloyd, Jill Clayton-Smith, Graeme C.M. Black, Rachel L. Gillespie

Publikováno v: Investigative ophthalmologyvisual science. 56(2)

PURPOSE. To define the phenotypic manifestation, confirm the genetic basis, and delineate the pathogenic mechanisms underlying an oculoauricular syndrome (OAS). METHODS. Two individuals from a consanguineous family underwent comprehensive clinical ph

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5372ee9f00b446733179b629ac9a8c9
https://pubmed.ncbi.nlm.nih.gov/25574057

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