V
Vanita Berry
Researcher at UCL Institute of Ophthalmology
Publications - 33
Citations - 2534
Vanita Berry is an academic researcher from UCL Institute of Ophthalmology. The author has contributed to research in topics: Congenital cataracts & Locus (genetics). The author has an hindex of 20, co-authored 31 publications receiving 2391 citations. Previous affiliations of Vanita Berry include University of London & University College London.
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Journal ArticleDOI
A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q.
Alan Shiels,Donna S. Mackay,Alexander Ionides,Vanita Berry,Anthony T. Moore,Shomi S. Bhattacharya +5 more
TL;DR: These studies provide the first direct evidence that GJA8 plays a vital role in the maintenance of human lens transparency and identify the genetic defect believed to underlie the first inherited disease to be linked to a human autosome.
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Connexin46 mutations in autosomal dominant congenital cataract
Donna S. Mackay,Alexander Ionides,Zoha Kibar,Guy A. Rouleau,Vanita Berry,Anthony T. Moore,Alan Shiels,Shomi S. Bhattacharya +7 more
TL;DR: This study identifies GJA3 as the sixth member of the connexin gene family to be implicated in human disease, and it highlights the physiological importance of gap-junction communication in the development of a transparent eye lens.
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Alpha-b crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans
Vanita Berry,Peter J. Francis,M. Ashwin Reddy,Dean Collyer,Eranga N. Vithana,Ian Mackay,Gary Dawson,Alisoun H. Carey,Anthony T. Moore,Shomi S. Bhattacharya,Roy A. Quinlan +10 more
TL;DR: A deletion mutation, 450delA, was found in exon 3 of the CRYAB gene that resulted in a frameshift in codon 150 and produced an aberrant protein consisting of 184 residues, the first report of a mutation in this gene, resulting in isolated congenital cataract.
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Molecular genetic basis of inherited cataract and associated phenotypes
TL;DR: The identification of remaining genes will not only improve the understanding of the mechanism of cataract formation but will shed new light on the developmental biology and biochemistry of the lens.
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The genetics of childhood cataract
TL;DR: Improved functional characterization of mutations causing childhood cataracts will improve understanding of lens development and physiology but will also have implications for the more common age-related cataract.