Finn forfatter "Saarela, Janna Saija"
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Karvonen, V.; Harjama, L.; Heliö, K.; Kettunen, K.; Elomaa, O.; Koskenvuo, J.W.; Kere, J.; Weckström, S.; Holmström, M.; Saarela, Janna Saija; Ranki, A.; Heliö, T.; Hannula-Jouppi, K. (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2022)Background PPKs represent a heterogeneous group of disorders with hyperkeratosis of palmar and/or plantar skin. PPK, hair shaft abnormalities, cardiomyopathy and arrhythmias can be caused by mutations in desmosomal ...
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Brandt, E.; Harjama, L.; Elomaa, O.; Saarela, Janna Saija; Donner, K.; Lappalainen, K.; Kivirikko, S.; Ranki, A.; Kere, J.; Kettunen, K.; Hannula-Jouppi, K. (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2024)Abstract Background Hereditary palmoplantar keratodermas (hPPKs) comprise a heterogeneous group of skin disorders characterized by persistent palmoplantar hyperkeratosis. Loss‐of‐function variants in a serine peptidase ...
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Lee, Pui Y.; Davidson, Brad A.; Abraham, Roshini S.; Alter, Blanche; Arostegui, Juan I.; Bell, Katherine; Belot, Alexandre; Bergerson, Jenna R E; Bernard, Timothy J.; Brogan, Paul A.; Berkun, Yackov; Deuitch, Natalie T.; Dimitrova, Dimana; Georgin-Lavialle, Sophie A.; Gattorno, Marco; Grimbacher, Bodo; Hashem, Hasan; Hershfield, Michael S.; Ichord, Rebecca N.; Izawa, Kazushi; Kanakry, Jennifer A.; Khubchandani, Raju P.; Klouwer, Femke C C; Luton, Evan A.; Man, Ada W.; Meyts, Isabelle; Van Montfrans, Joris M.; Ozen, Seza; Saarela, Janna Saija; Santo, Gustavo C.; Sharma, Aman; Soldatos, Ariane; Sparks, Rachel; Torgerson, Troy R.; Uriarte, Ignacio Leandro; Youngstein, Taryn A B; Zhou, Qing; Aksentijevich, Ivona; Kastner, Daniel L.; Chambers, Eugene P.; Ombrello, Amanda K. (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2023)Importance Deficiency of adenosine deaminase 2 (DADA2) is a recessively inherited disease characterized by systemic vasculitis, early-onset stroke, bone marrow failure, and/or immunodeficiency affecting both children and ...
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Hashem, Hasan; Bucciol, Giorgia; Ozen, Seza; Unal, Sule; Ok Bozkaya, Ikbal; Akarsu, Nurten; Taskinen, Mervi; Koskenvuo, Minna; Saarela, Janna Saija; Dimitrova, Dimana; Hickstein, Dennis D; Hsu, Amy P.; Holland, Steven M.; Krance, Robert A.; Sasa, Ghadir; Kumar, Ashish R; Müller, Ingo; de Sousa, Monica Abreu; Delafontaine, Selket; Moens, Leen; Babor, Florian; Barzaghi, Federica; Cicalese, Maria Pia; Bredius, Robbert; van Montfrans, Joris; Baretta, Valentina; Cesaro, Simone; Stepensky, Polina; Benedicte, Nevn; Moshous, Despina; Le Guenno, Guillaume; Boutboul, David; Dalal, Jignesh; Brooks, Joel P; Dokmeci, Elif; Dara, Jasmeen; Lucas, Carrie L; Hambleton, Sophie; Wilson, Keith; Jolles, Stephen; Koc, Yener; Güngör, Tayfun; Schnider, Caroline; Candotti, Fabio; Steinmann, Sandra; Schulz, Ansgar; Chambers, Chip; Hershfield, Michael S; Ombrello, Amanda; Kanakry, Jennifer A; Meyts, Isabelle (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2021)Abstract Purpose Deficiency of adenosine deaminase 2 (DADA2) is an inherited inborn error of immunity, characterized by autoinflammation (recurrent fever), vasculopathy (livedo racemosa, polyarteritis ...
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Olkinuora, Alisa; Nieminen, Taina T.; Douglas, Suvi; Kauppinen, Anni; Kontro, Mika; Väänänen, Juho; Kankainen, Matti; Ristimäki, Ari; Mäkinen, Markus; Lahermo, Päivi; Heckman, Caroline; Saarela, Janna Saija; Salonen, Milla; Lepistö, Anna; Järvinen, Heikki; Mecklin, Jukka-Pekka; Kilpivaara, Outi; Wartiovaara-Kautto, Ulla; Porkka, Kimmo; Peltomäki, Päivi (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2023)
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Malani, Disha; Adish Kumar, Kumar; Brück, Oscar; Kontro, Mika; Yadav, Bhagwan; Hellesøy, Monica; Kuusanmäki, Heikki; Dufva, Olli; Kankainen, Matti; Eldfors, Samuli; Potdar, Swapnil; Saarela, Jani; Turunen, Laura; Parsons, Alun; Västrik, Imre; Kivinen, Katja; Saarela, Janna Saija; Räty, Riikka; Mooij, Wolf M.; Lehto, M; Gjertsen, Bjørn Tore; Mustjoki, Satu; Aittokallio, Tero Antero; Wennerberg, Krister; Heckman, Caroline Akemi; Kallioniemi, Olli; Porkka, Kimmo (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2022)We generated ex vivo drug-response and multiomics profiling data for a prospective series of 252 samples from 186 patients with acute myeloid leukemia (AML). A functional precision medicine tumor board (FPMTB) integrated ...
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Santaniemi, Wenny; Åström, Pirjo; Glumoff, Virpi; Pernaa, Nora; Tallgren, Ella-Noora; Palosaari, Sanna; Nissinen, Antti; Kaustio, Meri; Kuismin, Outi; Saarela, Janna Saija; Nurmi, Katariina; Eklund, Kari K.; Seppänen, Mikko R. J.; Hautala, Timo (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2023)Abstract Loss-of-function (LOF) mutations in NFKB1 , coding for p105, may cause common variable immunodeficiency due to dysregulation of nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κΒ) pathway. ...
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Tuovinen, Elina A.; Kuismin, Outi; Soikkonen, Leila; Martelius, Timi; Kaustio, Meri; Hamalainen, Sari; Viskari, Hanna; Syrjänen, Jaana; Wartionvaara-Kauttu, U; Eklund, Kari K.; Saarela, Janna Saija; Varjosalo, Markku; Kere, Juha; Hautala, Timo; Seppanen, Mkko (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2023)Nuclear factor κ light-chain enhancer of activated B cells (NF-κB) family of evolutionarily conserved transcription factors are involved in key cellular signaling pathways. Previously, hypogammaglobulinemia and common ...
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Kaustio, Meri; Nayebzadeh, Naemeh; Hinttala, Reetta; Tapiainen, Terhi; Åström, Pirjo; Mamia, Katariina Aino Inkeri; Pernaa, Nora; Lehtonen, Johanna Marianna; Glumoff, Virpi; Rahikkala, Elisa; Honkila, Minna; Olsén, Päivi; Hassinen, Antti; Polso, Minttu; Al Sukati, Nashat; Al Shekaili, Jalila; Al Kindi, Mahmood; Al Hashmi, Nadia; Almusa, Henrikki; Bulanova, Daria; Haapaniemi, Emma Maria; Chen, Pu; Suo-Palosaari, Maria; Vieira, Paivi; Tuominen, Hannu; Kokkonen, Hannaleena; Al Macki, Nabil; Al Habsi, Huda; Löppönen, Tuija; Rantala, Heikki; Pietiäinen, Vilja; Zhang, Shen-Ying; Renko, Marjo; Hautala, Timo; Al Farsi, Tariq; Uusimaa, Johanna; Saarela, Janna Saija (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2021)Background Homozygous loss of DIAPH1 results in seizures, cortical blindness, and microcephaly syndrome (SCBMS). We studied 5 Finnish and 2 Omani patients with loss of DIAPH1 presenting with SCBMS, mitochondrial ...
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Perälä, Miia; Kaustio, Meri; Salava, Alexander; Jakkula, Eveliina; Pelkonen, Anna S.; Saarela, Janna Saija; Remitz, Anita; Mäkelä, Mika J. (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2023)Early-onset, persistent atopic dermatitis (AD) is proposed as a distinct subgroup that may have specific genotypic features. FLG gene loss-of-function variants are the best known genetic factors contributing to epidermal ...
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Savola, Paula; Martelius, Timi; Kankainen, Matti; Huuhtanen, Jani; Lundgren, Sofie; Koski, Yrjö; Samuli, Eldfors; Kelkka, Tiina; Keränen, Mikko A I; Ellonen, Pekka; Kovanen, Panu E; Kytölä, Soili; Saarela, Janna Saija; Lähdesmäki, Harri; Seppänen, Mikko R J; Mustjoki, Satu (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2021)Common variable immunodeficiency and other late-onset immunodeficiencies often co-manifest with autoimmunity and lymphoproliferation. The pathogenesis of most cases is elusive, as only a minor subset harbors known monogenic ...