Works by Pylkäs, Katri

Results: 39
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    ABRAXAS1 orchestrates BRCA1 activities to counter genome destabilizing repair pathways—lessons from breast cancer patients.

    Published in:
    Cell Death & Disease, 2023, v. 14, n. 5, p. 1, doi. 10.1038/s41419-023-05845-6
    By:
    • Sachsenweger, Juliane;
    • Jansche, Rebecca;
    • Merk, Tatjana;
    • Heitmeir, Benedikt;
    • Deniz, Miriam;
    • Faust, Ulrike;
    • Roggia, Cristiana;
    • Tzschach, Andreas;
    • Schroeder, Christopher;
    • Riess, Angelika;
    • Pospiech, Helmut;
    • Peltoketo, Hellevi;
    • Pylkäs, Katri;
    • Winqvist, Robert;
    • Wiesmüller, Lisa
    Publication type:
    Article
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    BRCA1 mislocalization leads to aberrant DNA damage response in heterozygous ABRAXAS1 mutation carrier cells.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 24, p. 4148, doi. 10.1093/hmg/ddz252
    By:
    • Bose, Muthiah;
    • Sachsenweger, Juliane;
    • Laurila, Niina;
    • Parplys, Ann Christin;
    • Willmann, Jonas;
    • Jungwirth, Johannes;
    • Groth, Marco;
    • Rapakko, Katrin;
    • Nieminen, Pentti;
    • Friedl, Thomas W P;
    • Heiserich, Lisa;
    • Meyer, Felix;
    • Tuppurainen, Hanna;
    • Peltoketo, Hellevi;
    • Nevanlinna, Heli;
    • Pylkäs, Katri;
    • Borgmann, Kerstin;
    • Wiesmüller, Lisa;
    • Winqvist, Robert;
    • Pospiech, Helmut
    Publication type:
    Article
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    Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant.

    Published in:
    Clinical Genetics, 2023, v. 104, n. 6, p. 686, doi. 10.1111/cge.14416
    By:
    • Hautakangas, Milla‐Riikka;
    • Widgren, Paula;
    • Korpelainen, Paavo;
    • Kangas, Salla M.;
    • Komulainen, Tuomas;
    • Vieira, Päivi;
    • Rahikkala, Elisa;
    • Pylkäs, Katri;
    • Tuominen, Hannu;
    • Kokkonen, Hannaleena;
    • Miinalainen, Ilkka;
    • Nadaf, Javad;
    • Majewski, Jacek;
    • Hinttala, Reetta;
    • Uusimaa, Johanna
    Publication type:
    Article
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    FANCM c.5101C>T mutation associates with breast cancer survival and treatment outcome.

    Published in:
    International Journal of Cancer, 2016, v. 139, n. 12, p. 2760, doi. 10.1002/ijc.30394
    By:
    • Kiiski, Johanna I.;
    • Fagerholm, Rainer;
    • Tervasmäki, Anna;
    • Pelttari, Liisa M.;
    • Khan, Sofia;
    • Jamshidi, Maral;
    • Mantere, Tuomo;
    • Pylkäs, Katri;
    • Bartek, Jiri;
    • Bartkova, Jirina;
    • Mannermaa, Arto;
    • Tengström, Maria;
    • Kosma, Veli‐Matti;
    • Winqvist, Robert;
    • Kallioniemi, Anne;
    • Aittomäki, Kristiina;
    • Blomqvist, Carl;
    • Nevanlinna, Heli
    Publication type:
    Article
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    ATM c.7570G>C is a high‐risk allele for breast cancer.

    Published in:
    International Journal of Cancer, 2023, v. 152, n. 3, p. 429, doi. 10.1002/ijc.34305
    By:
    • Kankuri‐Tammilehto, Minna;
    • Tervasmäki, Anna;
    • Kraatari‐Tiri, Minna;
    • Rahikkala, Elisa;
    • Pylkäs, Katri;
    • Kuismin, Outi
    Publication type:
    Article
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    FANCM mutation c.5791C>T is a risk factor for triple-negative breast cancer in the Finnish population.

    Published in:
    Breast Cancer Research & Treatment, 2017, v. 166, n. 1, p. 217, doi. 10.1007/s10549-017-4388-0
    By:
    • Kiiski, Johanna;
    • Tervasmäki, Anna;
    • Pelttari, Liisa;
    • Khan, Sofia;
    • Mantere, Tuomo;
    • Pylkäs, Katri;
    • Mannermaa, Arto;
    • Tengström, Maria;
    • Kvist, Anders;
    • Borg, Åke;
    • Kosma, Veli-Matti;
    • Kallioniemi, Anne;
    • Schleutker, Johanna;
    • Bützow, Ralf;
    • Blomqvist, Carl;
    • Aittomäki, Kristiina;
    • Winqvist, Robert;
    • Nevanlinna, Heli
    Publication type:
    Article
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    Comprehensive characterization of micropapillary colorectal adenocarcinoma.

    Published in:
    Journal of Pathology, 2025, v. 265, n. 4, p. 408, doi. 10.1002/path.6392
    By:
    • Äijälä, Ville K;
    • Härkönen, Jouni;
    • Mantere, Tuomo;
    • Elomaa, Hanna;
    • Sirniö, Päivi;
    • Pohjanen, Vesa‐Matti;
    • Sirkiä, Onni;
    • Karjalainen, Henna;
    • Kastinen, Meeri;
    • Tapiainen, Vilja V;
    • Väyrynen, Sara A;
    • Pölönen, Petri;
    • Ahtiainen, Maarit;
    • Helminen, Olli;
    • Wirta, Erkki‐Ville;
    • Rintala, Jukka;
    • Meriläinen, Sanna;
    • Saarnio, Juha;
    • Rautio, Tero;
    • Pylkäs, Katri
    Publication type:
    Article
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    A recurrent mutation in PALB2 in Finnish cancer families.

    Published in:
    Nature, 2007, v. 446, n. 7133, p. 316, doi. 10.1038/nature05609
    By:
    • Erkko, Hannele;
    • Bing Xia;
    • Nikkilä, Jenni;
    • Schleutker, Johanna;
    • Syrjäkoski, Kirsi;
    • Mannermaa, Arto;
    • Kallioniemi, Anne;
    • Pylkäs, Katri;
    • Karppinen, Sanna-Maria;
    • Rapakko, Katrin;
    • Miron, Alexander;
    • Qing Sheng;
    • Guilan Li;
    • Mattila, Henna;
    • Bell, Daphne W.;
    • Haber, Daniel A.;
    • Grip, Mervi;
    • Reiman, Mervi;
    • Jukkola-Vuorinen, Arja;
    • Mustonen, Aki
    Publication type:
    Article
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    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.

    Published in:
    Nature, 2014, v. 514, n. 7520, p. 92, doi. 10.1038/nature13545
    By:
    • Perry, John R. B.;
    • Albrecht, Eva;
    • Gieger, Christian;
    • Palotie, Aarno;
    • Peacock, Munro;
    • Storniolo, Anna M.;
    • Peterlongo, Paolo;
    • Peto, Julian;
    • Postma, Dirkje S.;
    • Pouta, Anneli;
    • Pylkäs, Katri;
    • Winqvist, Robert;
    • Radice, Paolo;
    • Rivadeneira, Fernando;
    • Uitterlinden, André G.;
    • Rose, Lynda M.;
    • Ang, Wei Q.;
    • Pennell, Craig E.;
    • Salomaa, Veikko;
    • Schlessinger, David
    Publication type:
    Article
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