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Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations

Matrix biology, 2017-01, Vol.57-58 (1), p.29-44

2017

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COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic Stroke

American journal of human genetics, 2012-01, Vol.90 (1), p.91-101

2012

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Local Net Charge State of Collagen Triple Helix Is a Determinant of FKBP22 Binding to Collagen III

International journal of molecular sciences, 2023-10, Vol.24 (20), p.15156

2023

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Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta

PLoS genetics, 2021-02, Vol.17 (2), p.e1009339-e1009339

2021

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Use of sodium 4-phenylbutyrate to define therapeutic parameters for reducing intracerebral hemorrhage and myopathy in Col4a1 mutant mice

Disease models & mechanisms, 2018-07, Vol.11 (7)

2018

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COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans

PLoS genetics, 2011-05, Vol.7 (5), p.e1002062-e1002062

2011

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Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations

Human molecular genetics, 2014-04, Vol.23 (7), p.1709-1722

2014

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Role of COL4A1 in Small-Vessel Disease and Hemorrhagic Stroke

The New England journal of medicine, 2006-04, Vol.354 (14), p.1489-1496

2006

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Molecular and Genetic Analyses of Collagen Type IV Mutant Mouse Models of Spontaneous Intracerebral Hemorrhage Identify Mechanisms for Stroke Prevention

Circulation (New York, N.Y.), 2015-05, Vol.131 (18), p.1555-1565

2015

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Genetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation in mouse

Disease models & mechanisms, 2017-04, Vol.10 (4), p.475-485

2017

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Abnormal Expression of Collagen IV in Lens Activates Unfolded Protein Response Resulting in Cataract

The Journal of biological chemistry, 2009-12, Vol.284 (51), p.35872-35884

2009

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A Transcriptomic Analysis of Cave, Surface, and Hybrid Isopod Crustaceans of the Species Asellus aquaticus

PloS one, 2015-10, Vol.10 (10), p.e0140484-e0140484

2015

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Col4a1 mutations cause progressive retinal neovascular defects and retinopathy

Scientific reports, 2016-01, Vol.6 (1), p.18602-18602, Article 18602

2016

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Characterization of a variant of gap junction protein α8 identified in a family with hereditary cataract

PloS one, 2017-08, Vol.12 (8), p.e0183438-e0183438

2017

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COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets

Human molecular genetics, 2012-10, Vol.21 (1), p.R97-R110

2012

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Endoplasmic reticulum stress as a primary pathogenic mechanism leading to age-related macular degeneration

Advances in experimental medicine and biology, 2010-01, Vol.664, p.403

2010

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Lysyl hydroxylase 3–mediated post-translational modifications are required for proper biosynthesis of collagen α1α1α2(IV)

The Journal of biological chemistry, 2022-12, Vol.298 (12), p.102713-102713, Article 102713

2022

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High-Dose Radiation with Bone Marrow Transfer Prevents Neurodegeneration in an Inherited Glaucoma

Proceedings of the National Academy of Sciences - PNAS, 2005-03, Vol.102 (12), p.4566-4571

2005

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TGFβ Signaling Dysregulation May Contribute to COL4A1-Related Glaucomatous Optic Nerve Damage

Investigative ophthalmology & visual science, 2024-05, Vol.65 (5), p.15-15

2024

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Elevated TGFβ signaling contributes to ocular anterior segment dysgenesis in Col4a1 mutant mice

Matrix biology, 2022-06, Vol.110, p.151-173

2022

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Developmental distribution of collagen IV isoforms and relevance to ocular diseases

Matrix biology, 2009-05, Vol.28 (4), p.194-201

2009

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Mutant Myocilin Nonsecretion In Vivo Is Not Sufficient To Cause Glaucoma

Molecular and Cellular Biology, 2006-11, Vol.26 (22), p.8427-8436

2006

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Genetically Increasing Myoc Expression Supports a Necessary Pathologic Role of Abnormal Proteins in Glaucoma

Molecular and Cellular Biology, 2004-10, Vol.24 (20), p.9019-9025

2004

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Tracking the role of Aire in immune tolerance to the eye with a TCR transgenic mouse model

Proceedings of the National Academy of Sciences - PNAS, 2024-01, Vol.121 (5), p.e2311487121

2024

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Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations

Allosteric Inhibition of the IRE1α RNase Preserves Cell Viability and Function during Endoplasmic Reticulum Stress

COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic Stroke

Local Net Charge State of Collagen Triple Helix Is a Determinant of FKBP22 Binding to Collagen III

Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta

Use of sodium 4-phenylbutyrate to define therapeutic parameters for reducing intracerebral hemorrhage and myopathy in Col4a1 mutant mice

COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans

Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations

Role of COL4A1 in Small-Vessel Disease and Hemorrhagic Stroke

Molecular and Genetic Analyses of Collagen Type IV Mutant Mouse Models of Spontaneous Intracerebral Hemorrhage Identify Mechanisms for Stroke Prevention

Genetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation in mouse

Abnormal Expression of Collagen IV in Lens Activates Unfolded Protein Response Resulting in Cataract

A Transcriptomic Analysis of Cave, Surface, and Hybrid Isopod Crustaceans of the Species Asellus aquaticus

Col4a1 mutations cause progressive retinal neovascular defects and retinopathy

Characterization of a variant of gap junction protein α8 identified in a family with hereditary cataract

COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets

Endoplasmic reticulum stress as a primary pathogenic mechanism leading to age-related macular degeneration

Lysyl hydroxylase 3–mediated post-translational modifications are required for proper biosynthesis of collagen α1α1α2(IV)

High-Dose Radiation with Bone Marrow Transfer Prevents Neurodegeneration in an Inherited Glaucoma

TGFβ Signaling Dysregulation May Contribute to COL4A1-Related Glaucomatous Optic Nerve Damage

Elevated TGFβ signaling contributes to ocular anterior segment dysgenesis in Col4a1 mutant mice

Developmental distribution of collagen IV isoforms and relevance to ocular diseases

Mutant Myocilin Nonsecretion In Vivo Is Not Sufficient To Cause Glaucoma

Genetically Increasing Myoc Expression Supports a Necessary Pathologic Role of Abnormal Proteins in Glaucoma

Tracking the role of Aire in immune tolerance to the eye with a TCR transgenic mouse model

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