Search Results - "Skarp, Sini"

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  1. 1

    Extracellular matrix proteins produced by stromal cells in idiopathic pulmonary fibrosis and lung adenocarcinoma by Kreus, Mervi, Lehtonen, Siri, Skarp, Sini, Kaarteenaho, Riitta

    Published in PloS one (27-04-2021)
    “…Idiopathic pulmonary fibrosis (IPF) and lung cancer share common risk factors, epigenetic and genetic alterations, the activation of similar signaling pathways…”
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  2. 2

    TUFT1, a novel candidate gene for metatarsophalangeal osteoarthritis, plays a role in chondrogenesis on a calcium-related pathway by Sliz, Eeva, Taipale, Mari, Welling, Maiju, Skarp, Sini, Alaraudanjoki, Viivi, Ignatius, Jaakko, Ruddock, Lloyd, Nissi, Ritva, Männikkö, Minna

    Published in PloS one (14-04-2017)
    “…Osteoarthritis (OA) is the most common degenerative joint disorder and genetic factors have been shown to have a significant role in its etiology. The first…”
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    Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritis by Skarp, Sini, Kämäräinen, Olli-Pekka, Wei, Gong-Hong, Jakkula, Eveliina, Kiviranta, Ilkka, Kröger, Heikki, Auvinen, Juha, Lehenkari, Petri, Ala-Kokko, Leena, Männikkö, Minna

    Published in PloS one (29-08-2018)
    “…Osteoarthritis (OA) is the most common degenerative joint disease and one of the major causes of disability worldwide. It is a multifactorial disorder with a…”
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  4. 4

    Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility by Costantini, Alice, Skarp, Sini, Kämpe, Anders, Mäkitie, Riikka E, Pettersson, Maria, Männikkö, Minna, Jiao, Hong, Taylan, Fulya, Lindstrand, Anna, Mäkitie, Outi

    Published in Frontiers in endocrinology (Lausanne) (10-07-2018)
    “…Early-onset osteoporosis is characterized by low bone mineral density (BMD) and fractures since childhood or young adulthood. Several monogenic forms have been…”
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    Abstract 13122: Exome Sequencing Reveals Novel Genetic Variants Predisposing to Sudden Cardiac Death Due to Primary Myocardial Fibrosis by Junttila, Juhani, Pakanen, Lasse, Skarp, Sini, Doedens, Anne

    Published in Circulation (New York, N.Y.) (08-11-2022)
    “…IntroductionSudden cardiac death (SCD) is one of the most common modes of death in Western countries. In post-mortem investigations, myocardial fibrosis is a…”
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    Apelin regulates skeletal muscle adaptation to exercise in a high-intensity interval training model by Kilpiö, Teemu, Skarp, Sini, Perjés, Ábel, Swan, Julia, Kaikkonen, Leena, Saarimäki, Samu, Szokodi, István, Penninger, Josef M, Szabó, Zoltán, Magga, Johanna, Kerkelä, Risto

    “…Plasma apelin levels are reduced in aging and muscle wasting conditions. We aimed to investigate the significance of apelin signaling in cardiac and skeletal…”
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  8. 8

    Whole‐exome sequencing suggests multiallelic inheritance for childhood‐onset Ménière's disease by Skarp, Sini, Kanervo, Laura, Kotimäki, Jouko, Sorri, Martti, Männikkö, Minna, Hietikko, Elina

    Published in Annals of human genetics (01-11-2019)
    “…The genetic background of Ménière's disease (MD) was studied in one patient with childhood‐onset MD and his grandfather affected with middle age–onset MD…”
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  9. 9

    Intrauterine growth restriction and placental gene expression in severe preeclampsia, comparing early-onset and late-onset forms by Nevalainen, Jaana, Skarp, Sini, Savolainen, Eeva-Riitta, Ryynänen, Markku, Järvenpää, Jouko

    Published in Journal of perinatal medicine (26-10-2017)
    “…To evaluate placental gene expression in severe early- or late-onset preeclampsia with intrauterine growth restriction compared to controls. Chorionic villus…”
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  10. 10

    New Genetic Variants in CYP2B6 and SLC6A Support the Role of Oxidative Stress in Familial Ménière’s Disease by Skarp, Sini, Korvala, Johanna, Kotimäki, Jouko, Sorri, Martti, Männikkö, Minna, Hietikko, Elina

    Published in Genes (01-06-2022)
    “…The objective was to study the genetic etiology of Ménière’s disease (MD) using next-generation sequencing in three families with three cases of MD. Whole…”
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  11. 11

    A Whole Exome Study Identifies Novel Candidate Genes for Vertebral Bone Marrow Signal Changes (Modic Changes) by Kraatari, Minna, Skarp, Sini, Niinimäki, Jaakko, Karppinen, Jaro, Männikkö, Minna

    Published in Spine (Philadelphia, Pa. 1976) (15-08-2017)
    “…STUDY DESIGN.A family-based study. OBJECTIVE.The aim of this study was to identify rare genetic factors predisposing to Modic changes (MCs). SUMMARY OF…”
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  12. 12

    Genome-wide meta-analysis identifies genetic locus on chromosome 9 associated with Modic changes by Freidin, Maxim, Kraatari, Minna, Skarp, Sini, Määttä, Juhani, Kettunen, Johannes, Niinimäki, Jaakko, Karppinen, Jaro, Williams, Frances, Männikkö, Minna

    Published in Journal of medical genetics (01-07-2019)
    “…Low back pain (LBP) is a common disabling condition. Lumbar disc degeneration (LDD) may be a contributing factor for LBP. Modic change (MC), a distinct…”
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    NRF3 Decreases during Melanoma Carcinogenesis and Is an Independent Prognostic Marker in Melanoma by Immonen, Anni, Haapasaari, Kirsi-Maria, Skarp, Sini, Karihtala, Peeter, Teppo, Hanna-Riikka

    “…The prognostic significance of the major redox regulator, nuclear factor erythroid-2-related factor 2 (NRF2), is recognized in many cancers, but the role of…”
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    A single genetic locus associated with pediatric fractures: A genome-wide association study on 3,230 patients by Parviainen, Roope, Skarp, Sini, Korhonen, Linda, Serlo, Willy, Männikkö, Minna, Sinikumpu, Juha-Jaakko

    Published in Experimental and therapeutic medicine (01-08-2020)
    “…The understanding of the biological and environmental risk factors of fractures in pediatrics is limited. Previous studies have reported that fractures involve…”
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    Exome Sequencing Reveals a Phenotype Modifying Variant in ZNF528 in Primary Osteoporosis With a COL1A2 Deletion by Skarp, Sini, Xia, Ji‐Han, Zhang, Qin, Löija, Marika, Costantini, Alice, Ruddock, Lloyd W, Mäkitie, Outi, Wei, Gong‐Hong, Männikkö, Minna

    Published in Journal of bone and mineral research (01-12-2020)
    “…ABSTRACT We studied a family with severe primary osteoporosis carrying a heterozygous p.Arg8Phefs*14 deletion in COL1A2, leading to haploinsufficiency. Three…”
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    NRF1 and NRF2 mRNA and Protein Expression Decrease Early during Melanoma Carcinogenesis: An Insight into Survival and MicroRNAs by Karihtala, Peeter, Vuopala, Katri, Porvari, Katja, Haapasaari, Kirsi-Maria, Skarp, Sini, Teppo, Hanna-Riikka, Hämäläinen, Mari, Kietzmann, Thomas

    “…The prognostic significance of the major redox regulator nuclear factor erythroid-2-related factor (NRF2) is recognized in many cancers, but the role of NRF1…”
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