Functional assay for assessment of pathogenicity of BAP1 variants
Repo, Pauliina E, Backlund, Michael P, Kivelä, Tero T, Turunen, Joni A
Published in Human molecular genetics (18.02.2024)
Published in Human molecular genetics (18.02.2024)
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Journal Article
Pathogenic Germline Variants in Uveal Melanoma Driver and BAP1-Associated Genes in Finnish Patients with Uveal Melanoma
Repo, Pauliina E, Jakkula, Eveliina, Hiltunen, Juho, Putkuri, Heidi, Staskiewicz-Tuikkanen, Aleksandra, Järvinen, Reetta-Stiina, Täll, Martin, Raivio, Virpi, Al-Jamal, Rana'a T, Kivelä, Tero T, Turunen, Joni A
Published in Pigment cell and melanoma research (30.09.2024)
Published in Pigment cell and melanoma research (30.09.2024)
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Quantitative Proteomics Analysis of Vitreous Humor from Diabetic Retinopathy Patients
Loukovaara, Sirpa, Nurkkala, Helka, Tamene, Fitsum, Gucciardo, Erika, Liu, Xiaonan, Repo, Pauliina, Lehti, Kaisa, Varjosalo, Markku
Published in Journal of proteome research (04.12.2015)
Published in Journal of proteome research (04.12.2015)
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Lymphatic endothelium stimulates melanoma metastasis and invasion via MMP14-dependent Notch3 and β1-integrin activation
Pekkonen, Pirita, Alve, Sanni, Balistreri, Giuseppe, Gramolelli, Silvia, Tatti-Bugaeva, Olga, Paatero, Ilkka, Niiranen, Otso, Tuohinto, Krista, Perälä, Nina, Taiwo, Adewale, Zinovkina, Nadezhda, Repo, Pauliina, Icay, Katherine, Ivaska, Johanna, Saharinen, Pipsa, Hautaniemi, Sampsa, Lehti, Kaisa, Ojala, Päivi M
Published in eLife (01.05.2018)
Published in eLife (01.05.2018)
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MMP16 Mediates a Proteolytic Switch to Promote Cell-Cell Adhesion, Collagen Alignment, and Lymphatic Invasion in Melanoma
Tatti, Olga, Gucciardo, Erika, Pekkonen, Pirita, Holopainen, Tanja, Louhimo, Riku, Repo, Pauliina, Maliniemi, Pilvi, Lohi, Jouko, Rantanen, Ville, Hautaniemi, Sampsa, Alitalo, Kari, Ranki, Annamari, Ojala, Päivi M, Keski-Oja, Jorma, Lehti, Kaisa
Published in Cancer research (Chicago, Ill.) (15.05.2015)
Published in Cancer research (Chicago, Ill.) (15.05.2015)
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A Case of Abnormal Lymphatic-Like Differentiation and Endothelial Progenitor Cell Activation in Neovascularization Associated with Hemi-Retinal Vein Occlusion
Loukovaara, Sirpa, Gucciardo, Erika, Repo, Pauliina, Lohi, Jouko, Salven, Petri, Lehti, Kaisa
Published in Case reports in ophthalmology (17.07.2015)
Published in Case reports in ophthalmology (17.07.2015)
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Journal Article
HAP1 cell utilization for accurate interpretation of germline BAP1 variants
Repo, Pauliina, Turunen, Joni, Kivelä, Tero
Published in Acta ophthalmologica (Oxford, England) (01.01.2024)
Published in Acta ophthalmologica (Oxford, England) (01.01.2024)
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Journal Article
BAP1 UCH‐domain enzymatic activity
Staskiewicz, Aleksandra, Repo, Pauliina, Backlund, Michael, Kivelä, Tero, Turunen, Joni
Published in Acta ophthalmologica (Oxford, England) (01.12.2022)
Published in Acta ophthalmologica (Oxford, England) (01.12.2022)
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Journal Article
Epithelial recurrent erosion dystrophy ( ERED ) from the splice site altering COL17A1 variant c. 3156C>T in families of Finnish‐Swedish ancestry
Turunen, Joni A., Tuisku, Ilpo S., Repo, Pauliina, Mörtenhumer, Sanna, Kawan, Sabita, Järvinen, Reetta‐Stiina, Korsbäck, Anna, Immonen, Annamari T., Kivelä, Tero T.
Published in Acta ophthalmologica (Oxford, England) (01.05.2024)
Published in Acta ophthalmologica (Oxford, England) (01.05.2024)
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Journal Article
Germline variants in cancer predisposition genes in patients with uveal melanoma
Repo, Pauliina, Salminen, Eveliina, Järvinen, Reetta‐Stiina, Hiltunen, Juho, Al‐Jamal, Rana'a, Täll, Martin, Raivio, Virpi, Kivelä, Tero, Turunen, Joni
Published in Acta ophthalmologica (Oxford, England) (01.12.2022)
Published in Acta ophthalmologica (Oxford, England) (01.12.2022)
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Journal Article
Analysis of glaucoma genes in Finnish patients with juvenile open‐angle glaucoma
Liuska, Perttu, Tadji, Abdesallam, Repo, Pauliina, Hiltunen, Juho, Backlund, Michael, Järvinen, Reetta‐Stiina, Ojanen, Eeva, Majander, Anna, Kivelä, Tero, Harju, Mika, Turunen, Joni
Published in Acta ophthalmologica (Oxford, England) (01.12.2022)
Published in Acta ophthalmologica (Oxford, England) (01.12.2022)
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Journal Article
Characterisation of a LINE-1 Insertion in the RP1 Gene by Targeted Adaptive Nanopore Sequencing in a Family with Retinitis Pigmentosa
Backlund, Michael P., Repo, Pauliina, Kangas, Harri, Donner, Kati, Sankila, Eeva-Marja, Krootila, Julia, Paavo, Maarjaliis, Wartiovaara, Kirmo, Kivelä, Tero T., Turunen, Joni A.
Published in Human mutation (09.02.2024)
Published in Human mutation (09.02.2024)
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Journal Article
Indications of lymphatic endothelial differentiation and endothelial progenitor cell activation in the pathology of proliferative diabetic retinopathy
Loukovaara, Sirpa, Gucciardo, Erika, Repo, Pauliina, Vihinen, Helena, Lohi, Jouko, Jokitalo, Eija, Salven, Petri, Lehti, Kaisa
Published in Acta ophthalmologica (Oxford, England) (01.09.2015)
Published in Acta ophthalmologica (Oxford, England) (01.09.2015)
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Journal Article
The microenvironment of proliferative diabetic retinopathy supports lymphatic neovascularization
Gucciardo, Erika, Loukovaara, Sirpa, Korhonen, Ani, Repo, Pauliina, Martins, Beatriz, Vihinen, Helena, Jokitalo, Eija, Lehti, Kaisa
Published in The Journal of pathology (01.06.2018)
Published in The Journal of pathology (01.06.2018)
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Journal Article
Population-based analysis of BAP1 germline variations in patients with uveal melanoma
Repo, Pauliina, Järvinen, Reetta-Stiina, Jäntti, Johannes E, Markkinen, Salla, Täll, Martin, Raivio, Virpi, Turunen, Joni A, Kivelä, Tero T
Published in Human molecular genetics (15.07.2019)
Published in Human molecular genetics (15.07.2019)
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Journal Article
Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies
Lehtokari, Vilma-Lotta, Kiiski, Kirsi, Sandaradura, Sarah A., Laporte, Jocelyn, Repo, Pauliina, Frey, Jennifer A., Donner, Kati, Marttila, Minttu, Saunders, Carol, Barth, Peter G., den Dunnen, Johan T., Beggs, Alan H., Clarke, Nigel F., North, Kathryn N., Laing, Nigel G., Romero, Norma B., Winder, Thomas L., Pelin, Katarina, Wallgren-Pettersson, Carina
Published in Human mutation (01.12.2014)
Published in Human mutation (01.12.2014)
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Journal Article
Epithelial recurrent erosion dystrophy (ERED) from the splice site altering COL17A1 variant c.3156C>T in families of Finnish‐Swedish ancestry
Turunen, Joni A., Tuisku, Ilpo S., Repo, Pauliina, Mörtenhumer, Sanna, Kawan, Sabita, Järvinen, Reetta‐Stiina, Korsbäck, Anna, Immonen, Annamari T., Kivelä, Tero T.
Published in Acta ophthalmologica (Oxford, England) (01.05.2024)
Published in Acta ophthalmologica (Oxford, England) (01.05.2024)
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Journal Article
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
Turunen, Joni A., Wedenoja, Juho, Repo, Pauliina, Järvinen, Reetta-Stiina, Jäntti, Johannes E., Mörtenhumer, Sanna, Riikonen, Antti S., Lehesjoki, Anna-Elina, Majander, Anna, Kivelä, Tero T.
Published in American journal of ophthalmology (01.04.2018)
Published in American journal of ophthalmology (01.04.2018)
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