Search Results - "TURUNEN, Joni A"

Pathogenic Germline Variants in Uveal Melanoma Driver and BAP1-Associated Genes in Finnish Patients with Uveal Melanoma by 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

“…Uveal melanoma (UM) is a rare yet aggressive eye cancer causing over 50% mortality from metastasis. Familial UM, amounting to 1%-6% of patients in Finland and…”
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Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma by Tanigawa, Yosuke, Wainberg, Michael, Karjalainen, Juha, Kiiskinen, Tuomo, Venkataraman, Guhan, Lemmelä, Susanna, Turunen, Joni A, Graham, Robert R, Havulinna, Aki S, Perola, Markus, Palotie, Aarno, Daly, Mark J, Rivas, Manuel A

“…Protein-altering variants that are protective against human disease provide in vivo validation of therapeutic targets. Here we use genotyping data from UK…”
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BAP1 Germline Mutations in Finnish Patients with Uveal Melanoma by Turunen, Joni A., MD, PhD, Markkinen, Salla, MSc, Wilska, Rosi, MD, Saarinen, Silva, MD, PhD, Raivio, Virpi, MD, PhD, Täll, Martin, MD, Lehesjoki, Anna-Elina, MD, PhD, Kivelä, Tero T., MD, PhD

“…Purpose Germline mutations of the BRCA1-associated protein-1 gene ( BAP1 ) predispose carriers to uveal melanoma. We report the population-based frequency of…”
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SPARCL1 sparkles new insight into corneal dystrophies by Turunen, Joni A

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Ring Melanoma of the Anterior Chamber Angle as a Mimicker of Pigmentary Glaucoma by Stadigh, Anni, MD, Puska, Päivi, MD, FEBO, Vesti, Eija, MD, FEBO, Ristimäki, Ari, MD, Turunen, Joni A., MD, Kivelä, Tero T., MD, FEBO

“…Abstract A 19-year-old man noticed blurred vision in his right eye. He had an intraocular pressure (IOP) of 60 mmHg, versus 12 mmHg in the fellow eye. He was…”
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Analysis of four neuroligin genes as candidates for autism by YLISAUKKO-OJA, Tero, REHNSTRÖM, Karola, NIEMINEN-VON WENDT, Taina, VON WENDT, Lennart, PELTONEN, Leena, JÄRVELÄ, Irma, AURANEN, Mari, VANHALA, Raija, ALEN, Reija, KEMPAS, Elli, ELLONEN, Pekka, TURUNEN, Joni A, MAKKONEN, Ismo, RIIKONEN, Raili

“…Neuroligins are cell-adhesion molecules located at the postsynaptic side of the synapse. Neuroligins interact with beta-neurexins and this interaction is…”
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Functional assay for assessment of pathogenicity of BAP1 variants by Repo, Pauliina E, Backlund, Michael P, Kivelä, Tero T, Turunen, Joni A

“…Abstract Background Pathogenic germline variants in BRCA1-Associated Protein 1 (BAP1) cause BAP1 tumor predisposition syndrome (BAP1-TPDS). Carriers run…”
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The role of DTNBP1 , NRG1 , and AKT1 in the genetics of schizophrenia in Finland by Turunen, Joni A, Peltonen, Juho O, Pietiläinen, Olli P.H, Hennah, William, Loukola, Anu, Paunio, Tiina, Silander, Kaisa, Ekelund, Jesper, Varilo, Teppo, Partonen, Timo, Lönnqvist, Jouko, Peltonen, Leena

“…Abstract Several putative schizophrenia susceptibility genes have recently been identified. Significant associations between schizophrenia and neuregulin 1 (…”
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Association of APOE Haplotypes With Common Age-Related Ocular Diseases in 412,171 Individuals by Liuska, Perttu J., Rämö, Joel T., Lemmelä, Susanna, Kaarniranta, Kai, Uusitalo, Hannu, Lahtela, Elisa, Daly, Mark J., Harju, Mika, Palotie, Aarno, Turunen, Joni A.

“…PurposeApolipoprotein E4 (APOE4), a known risk factor for Alzheimer's disease, has controversially been associated with reduced risk of primary open-angle…”
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Prospective In Vivo Confocal Microscopy of the Central Cornea in Terrien Marginal Degeneration by Ruutila, Minna, Immonen, Annamari T, Turunen, Joni A, Fagerholm, Per, Lagali, Neil, Hjortdal, Jesper, Bram, Thue, Krootila, Kari, Moilanen, Jukka, Kivelä, Tero T

“…To analyze central corneal in vivo confocal microscopy (IVCM) in Terrien marginal degeneration (TMD). An observational prospective case-control study. Ten…”
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Update on the Corneal Dystrophies—Genetic Testing and Therapy by Weiss, Jayne S., Willoughby, Colin E., Abad–Morales, Víctor, Turunen, Joni A., Lisch, Walter

“…One major purpose of the IC3D Corneal Dystrophy Nomenclature Revision was to include genetic information with a goal of facilitating investigation into the…”
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Prevalence of MYOC risk variants for glaucoma in different populations by Liuska, Perttu J., Harju, Mika, Kivelä, Tero T., Turunen, Joni A.

“…Purpose To assess the clinical relevance of myocilin (MYOC) gene variants as risk factors for glaucoma in literature and to estimate their prevalence in…”
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Clinical Spectrum and Geographic Distribution of Keratitis Fugax Hereditaria Caused by the Pathogenic Variant c.61G>C in NLRP3 by Immonen, Annamari T., Kawan, Sabita, Vesaluoma, Minna, Heiskanen, J. Miikael, Taipale, Claudia, Koskinen, Mira, Majander, Anna, Kivelä, Tero T., Turunen, Joni A.

“…To chart clinical findings in individuals with keratitis fugax hereditaria (KFH) and the geographic distribution of their ancestors. A prospective…”
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Letter to the editor: Keratitis fugax hereditaria is an eye-specific cryopyrin-associated periodic syndrome by Turunen, Joni A., Immonen, Annamari T., Kivelä, Tero T.

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BAP1 germline variants in Finnish patients with malignant mesothelioma by Repo, Pauliina, Staskiewicz, Aleksandra, Sutinen, Eva, Rönty, Mikko, Tero T. Kivelä, Myllärniemi, Marjukka, Turunen, Joni A.

“…•Uveal melanoma (UM) and malignant mesothelioma (MM) are BAP-TPDS core cancers.•Frequency of pathogenic germline variants in patients with MM is 1.8%.•This is…”
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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 by Backlund, Michael P., Repo, Pauliina, Kangas, Harri, Donner, Kati, Sankila, Eeva-Marja, Krootila, Julia, Paavo, Maarjaliis, Wartiovaara, Kirmo, Kivelä, Tero T., Turunen, Joni A.

“…Retinitis pigmentosa (RP) is a group of inherited degenerative retinal disorders affecting more than 1.5 million people worldwide. For 30-50% of individuals…”
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Population-based analysis of BAP1 germline variations in patients with uveal melanoma by Repo, Pauliina, Järvinen, Reetta-Stiina, Jäntti, Johannes E, Markkinen, Salla, Täll, Martin, Raivio, Virpi, Turunen, Joni A, Kivelä, Tero T

“…Abstract Pathogenic germline variants in the BRCA1-associated protein 1 (BAP1) gene cause the BAP1 tumor predisposition syndrome (BAP1-TPDS) with increased…”
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A retrospective longitudinal study of 52 Finnish patients with X-linked retinoschisis by Järvinen, Mira A, Baraas, Rigmor C, Majander, Anna, Backlund, Michael P, Krootila, Julia, Paavo, Maarjaliis, Lindahl, Päivi, Vasara, Kristiina, Sankila, Eeva-Marja, Kivelä, Tero T, Turunen, Joni A

“…To describe clinical characteristics in Finnish patients with X-linked retinoschisis (XLRS) longitudinally with emphasis on retinal morphology and…”
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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 by Turunen, Joni A., Tuisku, Ilpo S., Repo, Pauliina, Mörtenhumer, Sanna, Kawan, Sabita, Järvinen, Reetta‐Stiina, Korsbäck, Anna, Immonen, Annamari T., Kivelä, Tero T.

“…Purpose To describe four Finnish families with epithelial recurrent erosion dystrophy (ERED) caused by the pathogenic variant c.3156C>T in collagen type XVII…”
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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 by 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.

“…To describe the phenotype and the genetic defect in keratoendotheliitis fugax hereditaria, an autosomal dominant keratitis that periodically affects the…”
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