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Functional assay for assessment of pathogenicity of BAP1 variants

Human molecular genetics, 2024-02, Vol.33 (5), p.426-434

2024

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Quantitative Proteomics Analysis of Vitreous Humor from Diabetic Retinopathy Patients

Journal of proteome research, 2015-12, Vol.14 (12), p.5131-5143

2015

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MMP16 Mediates a Proteolytic Switch to Promote Cell-Cell Adhesion, Collagen Alignment, and Lymphatic Invasion in Melanoma

Cancer research (Chicago, Ill.), 2015-05, Vol.75 (10), p.2083-2094

2015

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HAP1 cell utilization for accurate interpretation of germline BAP1 variants

Acta ophthalmologica (Oxford, England), 2024-01, Vol.102 (S279)

2024

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A Case of Abnormal Lymphatic-Like Differentiation and Endothelial Progenitor Cell Activation in Neovascularization Associated with Hemi-Retinal Vein Occlusion

Case reports in ophthalmology, 2015-07, Vol.6 (2), p.228-238

2015

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BAP1 UCH‐domain enzymatic activity

Acta ophthalmologica (Oxford, England), 2022-12, Vol.100 (S275), p.n/a

2022

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LINE‐1 insertion in the RP1 gene in a family with retinitis pigmentosa

Acta ophthalmologica (Oxford, England), 2022-12, Vol.100 (S275), p.n/a

2022

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Epithelial recurrent erosion dystrophy ( ERED ) from the splice site altering COL17A1 variant c. 3156C>T in families of Finnish‐Swedish ancestry

Acta ophthalmologica (Oxford, England), 2024-05, Vol.102 (3), p.296-305

2024

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Analysis of glaucoma genes in Finnish patients with juvenile open‐angle glaucoma

Acta ophthalmologica (Oxford, England), 2022-12, Vol.100 (S275), p.n/a

2022

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Germline variants in cancer predisposition genes in patients with uveal melanoma

Acta ophthalmologica (Oxford, England), 2022-12, Vol.100 (S275), p.n/a

2022

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The microenvironment of proliferative diabetic retinopathy supports lymphatic neovascularization

The Journal of pathology, 2018-06, Vol.245 (2), p.172-185

2018

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Indications of lymphatic endothelial differentiation and endothelial progenitor cell activation in the pathology of proliferative diabetic retinopathy

Acta ophthalmologica (Oxford, England), 2015-09, Vol.93 (6), p.512-523

2015

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Characterisation of a LINE-1 Insertion in the RP1 Gene by Targeted Adaptive Nanopore Sequencing in a Family with Retinitis Pigmentosa

Human mutation, 2024-02, Vol.2024, p.1-10

2024

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BAP1 germline variants in Finnish patients with malignant mesothelioma

Lung cancer (Amsterdam, Netherlands), 2022-03, Vol.165, p.102-107

2022

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Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies

Human mutation, 2014-12, Vol.35 (12), p.1418-1426

2014

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Population-based analysis of BAP1 germline variations in patients with uveal melanoma

Human molecular genetics, 2019-07, Vol.28 (14), p.2415-2426

2019

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Epithelial recurrent erosion dystrophy (ERED) from the splice site altering COL17A1 variant c.3156C>T in families of Finnish‐Swedish ancestry

Acta ophthalmologica (Oxford, England), 2024-05, Vol.102 (3), p.296-305

2024

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Keratoendotheliitis Fugax Hereditaria: A Novel Cryopyrin-Associated Periodic Syndrome Caused by a Mutation in the Nucleotide-Binding Domain, Leucine-Rich Repeat Family, Pyrin Domain-Containing 3 (NLRP3) Gene

American journal of ophthalmology, 2018-04, Vol.188, p.41-50

2018

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Analysis of glaucoma genes in Finnish patients with juvenile open-angle glaucoma

Acta ophthalmologica (Oxford, England), 2023-11, Vol.101 (7), p.797-806

2023

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Germline variants in the MBD4 gene are rare in patients with uveal melanoma

Acta ophthalmologica (Oxford, England), 2019-12, Vol.97 (S263), p.n/a

2019

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Candidate gene analysis of germline variants in Finnish patients with juvenile open‐angle glaucoma

Acta ophthalmologica (Oxford, England), 2019-12, Vol.97 (S263), p.n/a

2019

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In Vivo Corneal Confocal Microscopy and Histopathology of Keratitis Fugax Hereditaria From a Pathogenic Variant in NLRP3

American journal of ophthalmology, 2020-05, Vol.213, p.217-225

2020

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Genetic findings in over 600 individuals with inherited retinal disorders in Finland

Acta ophthalmologica (Oxford, England), 2022-12, Vol.100 (S275), p.n/a

2022

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A novel missense TGFBI variant p.(Ser591Phe) in a Finnish family with variant lattice corneal dystrophy

European journal of ophthalmology, 2022-07, Vol.32 (4), p.NP61-NP66

2022

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Functional assay for assessment of pathogenicity of BAP1 variants

Quantitative Proteomics Analysis of Vitreous Humor from Diabetic Retinopathy Patients

Lymphatic endothelium stimulates melanoma metastasis and invasion via MMP14-dependent Notch3 and β1-integrin activation

MMP16 Mediates a Proteolytic Switch to Promote Cell-Cell Adhesion, Collagen Alignment, and Lymphatic Invasion in Melanoma

HAP1 cell utilization for accurate interpretation of germline BAP1 variants

A Case of Abnormal Lymphatic-Like Differentiation and Endothelial Progenitor Cell Activation in Neovascularization Associated with Hemi-Retinal Vein Occlusion

BAP1 UCH‐domain enzymatic activity

LINE‐1 insertion in the RP1 gene in a family with retinitis pigmentosa

Epithelial recurrent erosion dystrophy ( ERED ) from the splice site altering COL17A1 variant c. 3156C>T in families of Finnish‐Swedish ancestry

Analysis of glaucoma genes in Finnish patients with juvenile open‐angle glaucoma

Germline variants in cancer predisposition genes in patients with uveal melanoma

The microenvironment of proliferative diabetic retinopathy supports lymphatic neovascularization

Indications of lymphatic endothelial differentiation and endothelial progenitor cell activation in the pathology of proliferative diabetic retinopathy

Characterisation of a LINE-1 Insertion in the RP1 Gene by Targeted Adaptive Nanopore Sequencing in a Family with Retinitis Pigmentosa

BAP1 germline variants in Finnish patients with malignant mesothelioma

Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies

Population-based analysis of BAP1 germline variations in patients with uveal melanoma

Epithelial recurrent erosion dystrophy (ERED) from the splice site altering COL17A1 variant c.3156C>T in families of Finnish‐Swedish ancestry

Keratoendotheliitis Fugax Hereditaria: A Novel Cryopyrin-Associated Periodic Syndrome Caused by a Mutation in the Nucleotide-Binding Domain, Leucine-Rich Repeat Family, Pyrin Domain-Containing 3 (NLRP3) Gene

Analysis of glaucoma genes in Finnish patients with juvenile open-angle glaucoma

Germline variants in the MBD4 gene are rare in patients with uveal melanoma

Candidate gene analysis of germline variants in Finnish patients with juvenile open‐angle glaucoma

In Vivo Corneal Confocal Microscopy and Histopathology of Keratitis Fugax Hereditaria From a Pathogenic Variant in NLRP3

Genetic findings in over 600 individuals with inherited retinal disorders in Finland

A novel missense TGFBI variant p.(Ser591Phe) in a Finnish family with variant lattice corneal dystrophy

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