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Inherited cataracts: molecular genetics, clinical features, disease mechanisms and novel therapeutic approaches

British journal of ophthalmology, 2020-10, Vol.104 (10), p.1331-1337

2020

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Multimorbidity due to novel pathogenic variants in the WFS1/RP1/NOD2 genes: autosomal dominant congenital lamellar cataract, retinitis pigmentosa and Crohn’s disease in a British family

BMJ open ophthalmology, 2023-07, Vol.8 (1), p.e001252

2023

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Dysfunctional LAT2 Amino Acid Transporter Is Associated With Cataract in Mouse and Humans

Frontiers in physiology, 2019-06, Vol.10, p.688-688

2019

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Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract

Genes, 2020-05, Vol.11 (5), p.512

2020

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Alpha-B Crystallin Gene ( CRYAB) Mutation Causes Dominant Congenital Posterior Polar Cataract in Humans

American journal of human genetics, 2001-11, Vol.69 (5), p.1141-1145

2001

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A Missense Mutation in the Human Connexin50 Gene ( GJA8) Underlies Autosomal Dominant “Zonular Pulverulent” Cataract, on Chromosome 1q

American journal of human genetics, 1998-03, Vol.62 (3), p.526-532

1998

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Connexin46 Mutations in Autosomal Dominant Congenital Cataract

American journal of human genetics, 1999-05, Vol.64 (5), p.1357-1364

1999

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Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts

Eye (London), 2022-08, Vol.36 (8), p.1694-1701

2022

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The genetic landscape of crystallins in congenital cataract

Orphanet journal of rare diseases, 2020-11, Vol.15 (1), p.333-333, Article 333

2020

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Understanding the molecular mechanisms underlying cataracts: Several hundred genes have been found to be associated with congenital forms

Ophthalmology times Europe, 2021-03, Vol.17 (2), p.21

2021

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A novel frameshift variant in BCOR causes congenital nuclear cataract

Ophthalmic genetics, 2024-07, p.1-5

2024

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Pathogenic variants in the CYP21A2 gene cause isolated autosomal dominant congenital posterior polar cataracts

Ophthalmic genetics, 2022-04, Vol.43 (2), p.218-223

2022

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A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family

Ophthalmic genetics, 2022-09, Vol.43 (5), p.622-626

2022

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Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans

European journal of human genetics : EJHG, 2013-12, Vol.21 (12), p.1356-1360

2013

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A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract

Ophthalmic genetics, 2020-03, Vol.41 (2), p.131-134

2020

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Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract

Eye (London), 2018-10, Vol.32 (10), p.1661-1668

2018

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Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q

Nature genetics, 2000-05, Vol.25 (1), p.15-17

2000

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Molecular genetic basis of inherited cataract and associated phenotypes

Survey of ophthalmology, 2004-05, Vol.49 (3), p.300-315

2004

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A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract

Ophthalmic genetics, 2018-04, Vol.39 (2), p.236-241

2018

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A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract

Molecular vision, 2011, Vol.17, p.1249-1253

2011

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A novel locus for autosomal dominant congenital cerulean cataract maps to chromosome 12q

European journal of human genetics : EJHG, 2011-12, Vol.19 (12), p.1289-1291

2011

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Functional impairment of lens aquaporin in two families with dominantly inherited cataracts

Human molecular genetics, 2000-09, Vol.9 (15), p.2329-2334

2000

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Lens biology: development and human cataractogenesis

Trends in Genetics, 1999-05, Vol.15 (5), p.191-196

1999

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

Human genetics, 1999-08, Vol.105 (1-2), p.168-170

1999

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Congenital progressive polymorphic cataract caused by a mutation in the major intrinsic protein of the lens, MIP (AQP0)

British journal of ophthalmology, 2000-12, Vol.84 (12), p.1376-1379

2000

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Inherited cataracts: molecular genetics, clinical features, disease mechanisms and novel therapeutic approaches

Multimorbidity due to novel pathogenic variants in the WFS1/RP1/NOD2 genes: autosomal dominant congenital lamellar cataract, retinitis pigmentosa and Crohn’s disease in a British family

Dysfunctional LAT2 Amino Acid Transporter Is Associated With Cataract in Mouse and Humans

Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract

Alpha-B Crystallin Gene ( CRYAB) Mutation Causes Dominant Congenital Posterior Polar Cataract in Humans

A Missense Mutation in the Human Connexin50 Gene ( GJA8) Underlies Autosomal Dominant “Zonular Pulverulent” Cataract, on Chromosome 1q

Connexin46 Mutations in Autosomal Dominant Congenital Cataract

Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts

The genetic landscape of crystallins in congenital cataract

Understanding the molecular mechanisms underlying cataracts: Several hundred genes have been found to be associated with congenital forms

A novel frameshift variant in BCOR causes congenital nuclear cataract

Pathogenic variants in the CYP21A2 gene cause isolated autosomal dominant congenital posterior polar cataracts

A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family

Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans

A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract

Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract

Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q

Molecular genetic basis of inherited cataract and associated phenotypes

A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract

A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract

A novel locus for autosomal dominant congenital cerulean cataract maps to chromosome 12q

Functional impairment of lens aquaporin in two families with dominantly inherited cataracts

Lens biology: development and human cataractogenesis

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

Congenital progressive polymorphic cataract caused by a mutation in the major intrinsic protein of the lens, MIP (AQP0)

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