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3. Clinical and genetic variability in children with partial albinism

Author

Campbell, Patrick, Ellingford, Jamie M., Parry, Neil R. A., Fletcher, Tracy, Ramsden, Simon C., Gale, Theodora, Hall, Georgina, Smith, Katherine, Kasperaviciute, Dalia, Thomas, Ellen, Lloyd, I. Chris, Douzgou, Sofia, Clayton-Smith, Jill, Biswas, Susmito, Ashworth, Jane L., Black, Graeme C. M., and Sergouniotis, Panagiotis I.

Published
2019
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6. Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease

Author

Taylor, Rachel L., primary, Parry, Neil R.A., additional, Barton, Stephanie J., additional, Campbell, Christopher, additional, Delaney, Claire M., additional, Ellingford, Jamie M., additional, Hall, Georgina, additional, Hardcastle, Claire, additional, Morarji, Jiten, additional, Nichol, Elisabeth J., additional, Williams, Lindsi C., additional, Douzgou, Sofia, additional, Clayton-Smith, Jill, additional, Ramsden, Simon C., additional, Sharma, Vinod, additional, Biswas, Susmito, additional, Lloyd, I. Chris, additional, Ashworth, Jane L., additional, Black, Graeme C., additional, and Sergouniotis, Panagiotis I., additional

Published
2017
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7. Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature

Author

Taylor, Rachel L., primary, Handley, Mark T., additional, Waller, Sarah, additional, Campbell, Christopher, additional, Urquhart, Jill, additional, Meynert, Alison M., additional, Ellingford, Jamie M., additional, Donnelly, Deirdre, additional, Wilcox, Gisela, additional, Lloyd, I. Chris, additional, Mundy, Helen, additional, FitzPatrick, David R., additional, Deshpande, Charu, additional, Clayton-Smith, Jill, additional, and Black, Graeme C., additional

Published
2017
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18. Abrogation of HMX1 Function Causes Rare Oculoauricular Syndrome Associated With Congenital Cataract, Anterior Segment Dysgenesis, and Retinal Dystrophy

Author

Gillespie, Rachel L., Urquhart, Jill, Lovell, Simon C., Biswas, Susmito, Parry, Neil R. A., Schorderet, Daniel F., Lloyd, I. Chris, Clayton-Smith, Jill, and Black, Graeme C.

Subjects
congenital cataract, coloboma, anterior segment dysgenesis, early-onset retinal dystrophy, oculoauricular syndrome
Abstract

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 phenotyping and electrodiagnostic testing (EDT). Genome-wide microarray analysis and Sanger sequencing of the candidate gene were used to identify the likely causal variant. Protein modelling, Western blotting, and dual luciferase assays were used to assess the pathogenic effect of the variant in vitro. RESULTS. Complex developmental ocular abnormalities of congenital cataract, anterior segment dysgenesis, iris coloboma, early-onset retinal dystrophy, and abnormal external ear cartilage presented in the affected family members. Genetic analyses identified a homozygous c.650A> C; p.(Gln217Pro) missense mutation within the highly conserved homeodomain of the H6 family homeobox 1 (HMX1) gene. Protein modelling predicts that the variant may have a detrimental effect on protein folding and/or stability. In vitro analyses were able to demonstrate that the mutation has no effect on protein expression but adversely alters function. CONCLUSIONS. Oculoauricular syndrome is an autosomal recessive condition that has a profound effect on the development of the external ear, anterior segment, and retina, leading to significant visual loss at an early age. This study has delineated the phenotype and confirmed HMX1 as the gene causative of OAS, enabling the description of only the second family with the condition. HMX1 is a key player in ocular development, possibly in both the pathway responsible for lens and retina development, and via the gene network integral to optic fissure closure.

19. VSX2 in microphthalmia: a novel splice site mutation producing a severe microphthalmia phenotype.

Author

Wright, Emma M. M. Burkitt, Perveen, Rahat, Bowers, Naomi, Ramsden, Simon, McCann, Emma, O'Driscoll, Mary, Lloyd, I. Chris, Clayton-Smith, Jill, and Black, Graeme C. M.

Subjects
GENETIC repressors, CYCLIN-dependent kinases, TRANSCRIPTION factors
Abstract

The article focuses on visual system homeobox two (VSX2), which is said to principally act as repressor of transcription, particularly of the genes encoding cyclin-dependent kinase inhibitor and microphthalmia transcription factor.

Published
2010
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20. Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy.

Author

Gillespie RL, Urquhart J, Lovell SC, Biswas S, Parry NR, Schorderet DF, Lloyd IC, Clayton-Smith J, and Black GC

Subjects
Abnormalities, Multiple, Blotting, Western, Cataract congenital, Cataract diagnosis, Cells, Cultured, Child, Preschool, DNA Mutational Analysis, Eye Abnormalities diagnosis, Eye Abnormalities metabolism, Genetic Testing, Homeodomain Proteins metabolism, Humans, Male, Phenotype, Retinal Dystrophies congenital, Retinal Dystrophies genetics, Anterior Eye Segment abnormalities, Cataract genetics, DNA genetics, Ear abnormalities, Eye Abnormalities genetics, Homeodomain Proteins genetics, Mutation, Retinal Dystrophies diagnosis
Abstract

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 phenotyping and electrodiagnostic testing (EDT). Genome-wide microarray analysis and Sanger sequencing of the candidate gene were used to identify the likely causal variant. Protein modelling, Western blotting, and dual luciferase assays were used to assess the pathogenic effect of the variant in vitro., Results: Complex developmental ocular abnormalities of congenital cataract, anterior segment dysgenesis, iris coloboma, early-onset retinal dystrophy, and abnormal external ear cartilage presented in the affected family members. Genetic analyses identified a homozygous c.650A>C; p.(Gln217Pro) missense mutation within the highly conserved homeodomain of the H6 family homeobox 1 (HMX1) gene. Protein modelling predicts that the variant may have a detrimental effect on protein folding and/or stability. In vitro analyses were able to demonstrate that the mutation has no effect on protein expression but adversely alters function., Conclusions: Oculoauricular syndrome is an autosomal recessive condition that has a profound effect on the development of the external ear, anterior segment, and retina, leading to significant visual loss at an early age. This study has delineated the phenotype and confirmed HMX1 as the gene causative of OAS, enabling the description of only the second family with the condition. HMX1 is a key player in ocular development, possibly in both the pathway responsible for lens and retina development, and via the gene network integral to optic fissure closure., (Copyright 2015 The Association for Research in Vision and Ophthalmology, Inc.)

Published
2015
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