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Amelogenesis Imperfecta; Genes, Proteins, and Pathways

Frontiers in physiology, 2017-06, Vol.8, p.435-435

2017

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A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta

Human molecular genetics, 2014-04, Vol.23 (8), p.2189-2197

2014

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Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta

American journal of human genetics, 2016-10, Vol.99 (4), p.984-990

2016

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Identification of Mutations in SLC24A4, Encoding a Potassium-Dependent Sodium/Calcium Exchanger, as a Cause of Amelogenesis Imperfecta

American journal of human genetics, 2013-02, Vol.92 (2), p.307-312

2013

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Null Mutations in LTBP2 Cause Primary Congenital Glaucoma

American journal of human genetics, 2009-05, Vol.84 (5), p.664-671

2009

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A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency

Journal of allergy and clinical immunology, 2016-03, Vol.137 (3), p.955-957.e8

2016

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Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

American journal of human genetics, 2010-02, Vol.86 (2), p.248-253

2010

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Spectrum of PEX1 and PEX6 variants in Heimler syndrome

European journal of human genetics : EJHG, 2016-11, Vol.24 (11), p.1565-1571

2016

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Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia

Orphanet journal of rare diseases, 2022-03, Vol.17 (1), p.110-110, Article 110

2022

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Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta

American journal of human genetics, 2009-11, Vol.85 (5), p.699-705

2009

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Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta

European journal of human genetics : EJHG, 2014-01, Vol.22 (1), p.132-135

2014

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Matrix metalloproteinases in keratoconus – Too much of a good thing?

Experimental eye research, 2019-05, Vol.182, p.137-143

2019

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Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing

PloS one, 2014-08, Vol.9 (8), p.e104281-e104281

2014

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Mutations in C4orf26, Encoding a Peptide with In Vitro Hydroxyapatite Crystal Nucleation and Growth Activity, Cause Amelogenesis Imperfecta

American journal of human genetics, 2012-09, Vol.91 (3), p.565-571

2012

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Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta

American journal of human genetics, 2009-02, Vol.84 (2), p.266-273

2009

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Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci

Nature communications, 2024-02, Vol.15 (1), p.1600-1600, Article 1600

2024

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Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration

Investigative ophthalmology & visual science, 2011-01, Vol.52 (1), p.190-198

2011

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Author Correction: Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci

Nature communications, 2024-05, Vol.15 (1), p.3935-3935, Article 3935

2024

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Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)

Nature genetics, 2006-07, Vol.38 (7), p.755-757

2006

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Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q

American journal of human genetics, 2004-04, Vol.74 (4), p.721-730

2004

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Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK

Genes, 2023-01, Vol.14 (1), p.191

2023

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Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon‐based short‐read sequencing strategies

Molecular genetics & genomic medicine, 2023-06, Vol.11 (6), p.e2164-n/a

2023

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Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

American journal of human genetics, 2016-03, Vol.98 (3), p.592-592

2016

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Homozygous Mutations in PXDN Cause Congenital Cataract, Corneal Opacity, and Developmental Glaucoma

American journal of human genetics, 2011-09, Vol.89 (3), p.464-473

2011

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Amelogenesis Imperfecta; Genes, Proteins, and Pathways

A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta

Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta

Identification of Mutations in SLC24A4, Encoding a Potassium-Dependent Sodium/Calcium Exchanger, as a Cause of Amelogenesis Imperfecta

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

Null Mutations in LTBP2 Cause Primary Congenital Glaucoma

A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

Spectrum of PEX1 and PEX6 variants in Heimler syndrome

Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia

Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta

Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta

Matrix metalloproteinases in keratoconus – Too much of a good thing?

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing

Mutations in C4orf26, Encoding a Peptide with In Vitro Hydroxyapatite Crystal Nucleation and Growth Activity, Cause Amelogenesis Imperfecta

Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta

Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci

Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration

Author Correction: Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci

Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)

Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q

Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK

Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon‐based short‐read sequencing strategies

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

Homozygous Mutations in PXDN Cause Congenital Cataract, Corneal Opacity, and Developmental Glaucoma

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