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A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects

Nature communications, 2021-06, Vol.12 (1), p.3595-3595, Article 3595

2021

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The master transcription factor SOX2, mutated in anophthalmia/microphthalmia, is post-transcriptionally regulated by the conserved RNA-binding protein RBM24 in vertebrate eye development

Human molecular genetics, 2020-03, Vol.29 (4), p.591-604

2020

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RNA sequencing-based transcriptomic profiles of embryonic lens development for cataract gene discovery

Human genetics, 2018-12, Vol.137 (11-12), p.941-954

2018

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Prox1 and fibroblast growth factor receptors form a novel regulatory loop controlling lens fiber differentiation and gene expression

Development (Cambridge), 2016-01, Vol.143 (2), p.318-328

2016

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Proteomic profiling of retina and retinal pigment epithelium combined embryonic tissue to facilitate ocular disease gene discovery

Human genetics, 2023-07, Vol.142 (7), p.927-947

2023

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Modeling ocular lens disease in Xenopus

Developmental dynamics, 2020-05, Vol.249 (5), p.610-621

2020

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Deficiency of the RNA binding protein caprin2 causes lens defects and features of peters anomaly

Developmental dynamics, 2015-10, Vol.244 (10), p.1313-1327

2015

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The cataract-linked RNA-binding protein Celf1 post-transcriptionally controls the spatiotemporal expression of the key homeodomain transcription factors Pax6 and Prox1 in lens development

Human genetics, 2020-12, Vol.139 (12), p.1541-1554

2020

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RNA-binding proteins and post-transcriptional regulation in lens biology and cataract: Mediating spatiotemporal expression of key factors that control the cell cycle, transcription, cytoskeleton and transparency

Experimental eye research, 2022-01, Vol.214, p.108889-108889, Article 108889

Lachke, Salil A.

2022

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Aged Nrf2-Null Mice Develop All Major Types of Age-Related Cataracts

Investigative ophthalmology & visual science, 2021-12, Vol.62 (15), p.10-10

2021

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Precise temporal control of the eye regulatory gene Pax6 via enhancer-binding site affinity

Genes & development, 2010-05, Vol.24 (10), p.980-985

2010

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N-myc regulates growth and fiber cell differentiation in lens development

Developmental biology, 2017-09, Vol.429 (1), p.105-117

2017

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Rare variants analyses suggest novel cleft genes in the African population

Scientific reports, 2024-06, Vol.14 (1), p.14279-10, Article 14279

2024

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MS/MS in silico subtraction-based proteomic profiling as an approach to facilitate disease gene discovery: application to lens development and cataract

Human genetics, 2020-02, Vol.139 (2), p.151-184

2020

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Mutations in the RNA Granule Component TDRD7 Cause Cataract and Glaucoma

Science (American Association for the Advancement of Science), 2011-03, Vol.331 (6024), p.1571-1576

2011

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Deficiency of the bZIP transcription factors Mafg and Mafk causes misexpression of genes in distinct pathways and results in lens embryonic developmental defects

Frontiers in cell and developmental biology, 2022-08, Vol.10, p.981893-981893

2022

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β1-Integrin Deletion From the Lens Activates Cellular Stress Responses Leading to Apoptosis and Fibrosis

Investigative ophthalmology & visual science, 2017-08, Vol.58 (10), p.3896-3922

2017

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RNA-binding proteins in eye development and disease: implication of conserved RNA granule components

Wiley interdisciplinary reviews. RNA, 2016-07, Vol.7 (4), p.527-557

2016

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Histone posttranslational modifications and cell fate determination: lens induction requires the lysine acetyltransferases CBP and p300

Nucleic acids research, 2013-12, Vol.41 (22), p.10199

2013

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Roles of the 15-kDa Selenoprotein (Sep15) in Redox Homeostasis and Cataract Development Revealed by the Analysis of Sep 15 Knockout Mice

The Journal of biological chemistry, 2011-09, Vol.286 (38), p.33203-33212

2011

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Crim1 regulates integrin signaling in murine lens development

Development (Cambridge), 2016-01, Vol.143 (2), p.356-366

2016

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Pax6- and Six3-mediated induction of lens cell fate in mouse and human ES cells

PloS one, 2014-12, Vol.9 (12), p.e115106-e115106

2014

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The RNA-binding protein Celf1 post-transcriptionally regulates p27Kip1 and Dnase2b to control fiber cell nuclear degradation in lens development

PLoS genetics, 2018-03, Vol.14 (3), p.e1007278-e1007278

2018

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A Transcriptomics Analysis of the Regulation of Lens Fiber Cell Differentiation in the Absence of FGFRs and PTEN

Cells (Basel, Switzerland), 2024-07, Vol.13 (14), p.1222

2024

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Lens Epithelial Explants Treated with Vitreous Humor Undergo Alterations in Chromatin Landscape with Concurrent Activation of Genes Associated with Fiber Cell Differentiation and Innate Immune Response

Cells (Basel, Switzerland), 2023-02, Vol.12 (3), p.501

2023

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A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects

The master transcription factor SOX2, mutated in anophthalmia/microphthalmia, is post-transcriptionally regulated by the conserved RNA-binding protein RBM24 in vertebrate eye development

RNA sequencing-based transcriptomic profiles of embryonic lens development for cataract gene discovery

Prox1 and fibroblast growth factor receptors form a novel regulatory loop controlling lens fiber differentiation and gene expression

Proteomic profiling of retina and retinal pigment epithelium combined embryonic tissue to facilitate ocular disease gene discovery

Modeling ocular lens disease in Xenopus

Deficiency of the RNA binding protein caprin2 causes lens defects and features of peters anomaly

The cataract-linked RNA-binding protein Celf1 post-transcriptionally controls the spatiotemporal expression of the key homeodomain transcription factors Pax6 and Prox1 in lens development

RNA-binding proteins and post-transcriptional regulation in lens biology and cataract: Mediating spatiotemporal expression of key factors that control the cell cycle, transcription, cytoskeleton and transparency

Aged Nrf2-Null Mice Develop All Major Types of Age-Related Cataracts

Precise temporal control of the eye regulatory gene Pax6 via enhancer-binding site affinity

N-myc regulates growth and fiber cell differentiation in lens development

Rare variants analyses suggest novel cleft genes in the African population

MS/MS in silico subtraction-based proteomic profiling as an approach to facilitate disease gene discovery: application to lens development and cataract

Mutations in the RNA Granule Component TDRD7 Cause Cataract and Glaucoma

Deficiency of the bZIP transcription factors Mafg and Mafk causes misexpression of genes in distinct pathways and results in lens embryonic developmental defects

β1-Integrin Deletion From the Lens Activates Cellular Stress Responses Leading to Apoptosis and Fibrosis

RNA-binding proteins in eye development and disease: implication of conserved RNA granule components

Histone posttranslational modifications and cell fate determination: lens induction requires the lysine acetyltransferases CBP and p300

Roles of the 15-kDa Selenoprotein (Sep15) in Redox Homeostasis and Cataract Development Revealed by the Analysis of Sep 15 Knockout Mice

Crim1 regulates integrin signaling in murine lens development

Pax6- and Six3-mediated induction of lens cell fate in mouse and human ES cells

The RNA-binding protein Celf1 post-transcriptionally regulates p27Kip1 and Dnase2b to control fiber cell nuclear degradation in lens development

A Transcriptomics Analysis of the Regulation of Lens Fiber Cell Differentiation in the Absence of FGFRs and PTEN

Lens Epithelial Explants Treated with Vitreous Humor Undergo Alterations in Chromatin Landscape with Concurrent Activation of Genes Associated with Fiber Cell Differentiation and Innate Immune Response

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