J
J. Bronwyn Bateman
Researcher at University of Colorado Denver
Publications - 18
Citations - 518
J. Bronwyn Bateman is an academic researcher from University of Colorado Denver. The author has contributed to research in topics: Gene & Exon. The author has an hindex of 10, co-authored 17 publications receiving 486 citations. Previous affiliations of J. Bronwyn Bateman include Boston Children's Hospital & Anschutz Medical Campus.
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Journal ArticleDOI
Multiple and Additive Functions of ALDH3A1 and ALDH1A1: CATARACT PHENOTYPE AND OCULAR OXIDATIVE DAMAGE IN Aldh3a1(−/−)/Aldh1a1(−/−) KNOCK-OUT MICE
Natalie Lassen,J. Bronwyn Bateman,Tia Estey,Jer R. Kuszak,David W. Nees,Joram Piatigorsky,Gregg Duester,Brian J. Day,Jie Huang,Lisa M. Hines,Vasilis Vasiliou +10 more
TL;DR: The hypothesis that corneal ALDH3A1 and lens ALDH1A1 protect the eye against cataract formation via nonenzymatic and enzymatic (detoxification) functions is supported.
Journal Article
A New βA1-Crystallin Splice Junction Mutation in Autosomal Dominant Cataract
J. Bronwyn Bateman,J. Bronwyn Bateman,David D. Geyer,Pamela Flodman,Meriam Johannes,James M. Sikela,Nicole A.R. Walter,Ana Teresa Moreira,Kevin P. Clancy,M. Anne Spence +9 more
TL;DR: Analyses of DNA sequences of the betaA1-crystallin gene in this family revealed three new variants, one of which is within a donor splice junction and cosegregates with affected members.
Journal ArticleDOI
Novel single-base deletional mutation in major intrinsic protein (MIP) in autosomal dominant cataract.
David D. Geyer,David D. Geyer,M. Anne Spence,Meriam Johannes,Pamela Flodman,Kevin P. Clancy,Rebecca Berry,Robert S. Sparkes,Matthew D. Jonsen,Sherwin J. Isenberg,J. Bronwyn Bateman,J. Bronwyn Bateman,J. Bronwyn Bateman +12 more
TL;DR: A novel single base pair deletion is identified in the major intrinsic protein gene (MIP) and it is concluded that it is a pathogenic sequence alteration.
Journal ArticleDOI
Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA).
L. Richter,L. Richter,Pamela Flodman,Fernando Barria von-Bischhoffshausen,D. Burch,Sandra E. Brown,Linda Nguyen,Julia Turner,Julia Turner,Julia Turner,M. Anne Spence,J. Bronwyn Bateman,J. Bronwyn Bateman +12 more
TL;DR: The genotype–phenotype correlation of this previously unreported mutation provides evidence that other factors, genetic and/or environmental, may influence the development of cataract as a result of this alteration.
Journal ArticleDOI
Eye disease and care in Latin America and the Caribbean.
TL;DR: Access is an important issue that limits utilization of services by the poorest segments of the population in nearly all countries in Latin America and the Caribbean, and the number of ophthalmologists in the richest countries may be nine times more than in the poorest.