A. Shiels

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Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract

D. Mackay, T. Bennett, S. Culican, 2014, Human Genomics.

Mutation of the TRPM3 cation channel underlies progressive cataract development and lens calcification associated with pro‐fibrotic and immune cell responses

Yuefang Zhou, T. Bennett, A. Shiels, 2021, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

TRPM3_miR-204: a complex locus for eye development and disease

A. Shiels, 2020, Human Genomics.

Mutation of the Melastatin-Related Cation Channel, TRPM3, Underlies Inherited Cataract and Glaucoma

D. Mackay, T. Bennett, A. Shiels, 2014, PloS one.

Clinical and genetic heterogeneity in autosomal dominant cataract

S. Bhattacharya, A. Moore, P. Francis, 1999 .

Lens transcriptome profile during cataract development in Mip-null mice.

Yuefang Zhou, T. Bennett, A. Shiels, 2016, Biochemical and biophysical research communications.

Regulation of aquaporin water permeability in the lens.

R. Mathias, A. Shiels, K. Varadaraj, 2005, Investigative ophthalmology & visual science.

Overview of the Lens.

J. Hejtmancik, A. Shiels, J. Hejtmancik, 2015, Progress in molecular biology and translational science.

Inherited cataracts: Genetic mechanisms and pathways new and old.

J. Hejtmancik, A. Shiels, 2021, Experimental eye research.

Genetics of human cataract

J. Hejtmancik, A. Shiels, 2013, Clinical genetics.

Lens ER-stress response during cataract development in Mip-mutant mice.

Yuefang Zhou, T. Bennett, A. Shiels, 2016, Biochimica et biophysica acta.

Pharmacogenetics of complement factor H (Y402H) and treatment of exudative age-related macular degeneration with ranibizumab

M. Brantley, S. Kymes, A. Lee, 2008, British Journal of Ophthalmology.

Association of complement factor H and LOC387715 genotypes with response of exudative age-related macular degeneration to photodynamic therapy

M. Brantley, S. Kymes, R. Apte, 2009, Eye.

A role for epha2 in cell migration and refractive organization of the ocular lens.

S. Bassnett, A. De Maria, T. Bennett, 2012, Investigative ophthalmology & visual science.

Red Cells Genetically Deficient in Carbonic Anhydrase II Have Elevated Levels of a Carbonic Anhydrase Indistinguishable from Muscle CA III a

R. Tashian, S. Jeffery, N. Carter, 1984, Annals of the New York Academy of Sciences.

Aquaporin-0 targets interlocking domains to control the integrity and transparency of the eye lens.

Jean X. Jiang, S. Gu, S. Biswas, 2014, Investigative ophthalmology & visual science.

Biology of Cataracts and Opportunities for Treatment

J. Hejtmancik, A. Shiels, 2019 .

Identification of an enhancer‐like element upstream from a cell cycle dependent human H4 histone gene

G. Stein, J. Stein, P. Kroeger, 1987, Journal of cellular physiology.

Genetics of Congenital Cataract

J. Hejtmancik, A. Shiels, 2010 .

A new locus for dominant "zonular pulverulent" cataract, on chromosome 13.

S. Bhattacharya, A. Moore, D. Mackay, 1997, American journal of human genetics.

A charged multivesicular body protein (CHMP4B) is required for lens growth and differentiation.

Yuefang Zhou, T. Bennett, A. Shiels, 2019, Differentiation; research in biological diversity.

Connexin46 mutations linked to congenital cataract show loss of gap junction channel function.

E. Beyer, D. Mackay, L. Ebihara, 2000, American journal of physiology. Cell physiology.

In situ hybridisation localises the gene for the major intrinsic protein of eye lens fibre cell membranes to human chromosome 12q14.

C. Griffin, A. Shiels, 1992, Cytogenetics and cell genetics.

Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin

S. Bhattacharya, P. Francis, S. Khaliq, 1999, Human Genetics.

Enhancer-facilitated expression of a human H4 histone gene.

G. Stein, J. Stein, A. Shiels, 1985, Biochemical and biophysical research communications.

Molecular mechanism underlying a Cx50-linked congenital cataract.

E. Beyer, D. Mackay, L. Ebihara, 1999, American journal of physiology. Cell physiology.

rapid communication Molecular mechanism underlying a Cx 50-linked congenital cataract

E. Beyer, D. Mackay, L. Ebihara, 1999 .

Molecular mechanism underlying a Cx50-linked congenital cataract.

E. Beyer, D. Mackay, L. Ebihara, 1999, The American journal of physiology.

Galactokinase gene mutations and age-related cataract. Lack of association in an Italian population.

X. Jiao, J. Hejtmancik, R. Sperduto, 2003, Molecular vision.

Epha2 and Efna5 participate in lens cell pattern-formation.

Yuefang Zhou, A. Shiels, 2018, Differentiation; research in biological diversity.

Genetic origins of cataract.

J. Hejtmancik, A. Shiels, 2007, Archives of ophthalmology.

A locus for autosomal dominant posterior polar cataract on chromosome 1p.

S. Bhattacharya, A. Moore, D. Mackay, 1997, Human molecular genetics.

Lens Biology and Biochemistry.

A. Cvekl, S. Riazuddin, J. Hejtmancik, 2015, Progress in molecular biology and translational science.

Connexin46 mutations in autosomal dominant congenital cataract.

S. Bhattacharya, S. Bhattacharya, G. Rouleau, 1999, American journal of human genetics.

A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q.

S. Bhattacharya, S. Bhattacharya, A. Moore, 1998, American journal of human genetics.

Mutations in the founder of the MIP gene family underlie cataract development in the mouse

S. Bassnett, A. Shiels, 1996, Nature Genetics.

Disruption of lens fiber cell architecture in mice expressing a chimeric AQP0‐LTR protein

J. Kuszak, S. Bassnett, D. Mackay, 2000, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q

U. Andley, D. Mackay, A. Shiels, 2003, European Journal of Human Genetics.

Lens structure in MIP-deficient mice.

J. Kuszak, A. Kuszak, A. Shiels, 2003, The anatomical record. Part A, Discoveries in molecular, cellular, and evolutionary biology.

Immunochemical comparison of the major intrinsic protein of eye-lens fibre cell membranes in mice with hereditary cataracts.

C. Griffin, A. L. Muggleton-Harris, A Shiels, 1991, Biochimica et biophysica acta.

Optical dysfunction of the crystalline lens in aquaporin-0-deficient mice

J. Kuszak, S. Lilleberg, B. Zambrowicz, 2001 .

The Role of MIP in Lens Fiber Cell Membrane Transport

C. Kushmerick, S. Bassnett, R. Mathias, 1999, The Journal of Membrane Biology.

Mutations and mechanisms in congenital and age-related cataracts.

J. Hejtmancik, A. Shiels, 2017, Experimental eye research.

Role of Aquaporin 0 in lens biomechanics.

R. Mathias, P. Fitzgerald, Neha Gupta, 2015, Biochemical and biophysical research communications.

Focus on molecules: major intrinsic protein.

A. Shiels, 2012, Experimental eye research.

Refractive defects and cataracts in mice lacking lens intrinsic membrane protein-2.

S. Bassnett, D. Mackay, A. Shiels, 2007, Investigative ophthalmology & visual science.

CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q.

N. Niikawa, P. Hanson, K. Yoshiura, 2007, American journal of human genetics.

A missense mutation in the γD crystallin gene ( CRYGD ) associated with autosomal dominant " coral-like " cataract linked to chromosome 2 q

U. Andley, D. Mackay, A. Shiels, 2014 .

A missense mutation in the gammaD crystallin gene (CRYGD) associated with autosomal dominant "coral-like" cataract linked to chromosome 2q.

U. Andley, D. Mackay, A. Shiels, 2004, Molecular vision.

Noncoding variation of the gene for ferritin light chain in hereditary and age-related cataract

J. Hejtmancik, Wenmin Sun, T. Bennett, 2013, Molecular vision.

Restriction fragment length polymorphisms associated with the gene for the major intrinsic protein of eye-lens fibre cell membranes in mice with hereditary cataracts.

C. Griffin, A. L. Muggleton-Harris, A. Shiels, 1991, Biochimica et biophysica acta.

Molecular Genetics of Cataract.

Alan Shiels, J. Hejtmancik, J Fielding Hejtmancik, 2014, Progress in molecular biology and translational science.

Clinical and genetic heterogeneity in autosomal dominant cataract.

S. Bhattacharya, A. Moore, P. Francis, 2009, The British journal of ophthalmology.

Enhancer-facilitated expression of prokaryotic and eukaryotic genes using human histone gene 5' regulatory sequences.

G. Stein, J. Stein, S. Silverstein, 1986, Biochemistry and cell biology = Biochimie et biologie cellulaire.

Characterization of human carbonic anhydrase III from skeletal muscle

S. Jeffery, D. Hopkinson, N. Carter, 1979, Biochemical Genetics.

Novel inhibition of carbonic anhydrase isozymes I, II and III by carbamoyl phosphate

D. Hewett‐Emmett, S. Jeffery, A. Shiels, 1984, FEBS letters.

Hormonal Control of Carbonic Anhydrase III

I. Phillips, E. Shephard, S. Jeffery, 1984, Annals of the New York Academy of Sciences.

Radioimmunoassay of carbonic anhydrase III in rat tissues.

C. Wilson, S. Jeffery, N. Carter, 1984, The Biochemical journal.

Carbonic anhydrase III isoenzyme from human and bovine muscle [proceedings].

R. Tashian, N. Carter, A. Shiels, 1978, Biochemical Society transactions.

Sexual differentiation of rat liver carbonic anhydrase III.

I. Phillips, E. Shephard, C. Wilson, 1983, Biochimica et biophysica acta.

Novel purification of carbonic anhydrase III from human, rat and baboon muscle.

S. Jeffery, N. Carter, A. Shiels, 1984, Comparative biochemistry and physiology. B, Comparative biochemistry.

Androgen-linked control of rat liver carbonic anhydrase III

I. Phillips, E. Shephard, C. Wilson, 1983, Bioscience reports.

Synthesis of rat muscle carbonic anhydrase III in a cell‐free translation system

E. Shephard, N. Carter, A. Shiels, 1982, FEBS letters.

Mutation of the EPHA2 Tyrosine-Kinase Domain Dysregulates Cell Pattern Formation and Cytoskeletal Gene Expression in the Lens

Yuefang Zhou, T. Bennett, A. Shiels, 2021, Cells.

Cat-Map: putting cataract on the map

Thomas M. Bennett, Alan Shiels, J. Hejtmancik, 2010, Molecular vision.

Autophagy Requirements for Eye Lens Differentiation and Transparency

M. Kantorow, J. Hejtmancik, M. Costello, 2023, Cells.

Effect of 1‐β‐ D‐arabino‐furanosyl‐cytosine (ara‐C) induction of K562 cells on expression of Rh and other blood group active proteins

Wickramasinghe, E. Wiener, A. Shiels, 1998, British journal of haematology.

A locus for autosomal dominant anterior polar cataract on chromosome 17p.

S. Bhattacharya, A. Moore, A. Shiels, 1996, Human molecular genetics.

Association of complement factor H and LOC387715 genotypes with response of exudative age-related macular degeneration to intravitreal bevacizumab.

M. Brantley, S. Kymes, A. Shiels, 2007, Ophthalmology.

Clinical phenotypes associated with the complement factor H Y402H variant in age-related macular degeneration.

M. Brantley, S. Kymes, R. Apte, 2007, American journal of ophthalmology.

X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7.

L. Tychsen, T. Bennett, A. Shiels, 2007, Molecular vision.

Biology of Inherited Cataracts and Opportunities for Treatment.

J. Hejtmancik, A. Shiels, 2019, Annual review of vision science.

Anterior polar cataract: Clinical spectrum and genetic linkage in a single family

S. Bhattacharya, A. Moore, D. Mackay, 1998, Eye.

A recurrent missense mutation in GJA3 associated with autosomal dominant cataract linked to chromosome 13q

T. Bennett, A. Shiels, 2011, Molecular vision.

Expression of cytochrome P-450 genes in rat hepatoma cells

I. Phillips, E. Shephard, A. Shiels, 1987 .

Germ-line and somatic EPHA2 coding variants in lens aging and cataract

J. Hejtmancik, T. Bennett, A. Shiels, 2017, PloS one.

The EPHA2 gene is associated with cataracts linked to chromosome 1p

X. Jiao, J. Hejtmancik, T. Bennett, 2008, Molecular vision.

Congenital and Hereditary Cataracts: Epidemiology and Genetics

M. Datiles, Nadav Shoshany, A. Shiels, 2020 .

A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant "nuclear punctate" cataracts linked to chromosome 13q.

D. Mackay, T. Bennett, A. Shiels, 2004, Molecular vision.

Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle Glaucoma

D. Mackay, T. Bennett, A. Shiels, 2015, PloS one.

Localisation of the gene for the major intrinsic protein of eye-lens-fibre cell membranes to mouse chromosome 10 by in situ hybridisation.

C. Griffin, A. Shiels, 1992, Cytogenetics and cell genetics.

Charged multivesicular body protein 4b forms complexes with gap junction proteins during lens fiber cell differentiation

Yuefang Zhou, T. W. White, T. Bennett, 2023, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

The stratified syncytium of the vertebrate lens

Alan Shiels, S. Bassnett, Yanrong Shi, 2009, Journal of Cell Science.

Congenital and Inherited Cataracts

J. Hejtmancik, M. Datiles, A. Shiels, 2021 .

A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q.

K. Lampi, D. Mackay, A. Shiels, 2002, American journal of human genetics.

Whole-exome sequencing prioritizes candidate genes for hereditary cataract in the Emory mouse mutant

Michael G. Anderson, Yuefang Zhou, K. J. Meyer, 2023, G3.

A novel missense mutation in the gene for gap-junction protein α 3 ( GJA 3 ) associated with autosomal dominant “ nuclear punctate ” cataracts linked to chromosome 13 q

D. Mackay, T. Bennett, A. Shiels, 2004 .

Aberrant expression of the gene for lens major intrinsic protein in the CAT mouse.

C. Griffin, A. Shiels, 1993, Current Eye Research.

Whole-exome sequencing prioritizes candidate genes for hereditary cataract in the Emory mouse mutant

Michael G. Anderson, R. Lohmann, Yuefang Zhou, 2023, G3.

The clinical and genetic heterogeneity of autosomal dominant cataract.

S. Bhattacharya, A. Shiels, T. Moore, 1996, Acta ophthalmologica Scandinavica. Supplement.