Integrated data analysis reveals uterine leiomyoma subtypes with distinct driver pathways and biomarkers
Mehine, Miika, Kaasinen, Eevi, Heinonen, Hanna-Riikka, Mäkinen, Netta, Kämpjärvi, Kati, Sarvilinna, Nanna, Aavikko, Mervi, Vähärautio, Anna, Pasanen, Annukka, Bützow, Ralf, Heikinheimo, Oskari, Sjöberg, Jari, Pitkänen, Esa, Vahteristo, Pia, Aaltonen, Lauri A.
Published in Proceedings of the National Academy of Sciences - PNAS (02.02.2016)
Published in Proceedings of the National Academy of Sciences - PNAS (02.02.2016)
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Comparison of 2SC, AKR1B10, and FH Antibodies as Potential Biomarkers for FH-deficient Uterine Leiomyomas
Ahvenainen, Terhi, Kaukomaa, Jaana, Kämpjärvi, Kati, Uimari, Outi, Ahtikoski, Anne, Mäkinen, Netta, Heikinheimo, Oskari, Aaltonen, Lauri A, Karhu, Auli, Bützow, Ralf, Vahteristo, Pia
Published in The American journal of surgical pathology (01.04.2022)
Published in The American journal of surgical pathology (01.04.2022)
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Uterine Leiomyoma-Linked MED12 Mutations Disrupt Mediator-Associated CDK Activity
Turunen, Mikko, Spaeth, Jason M., Keskitalo, Salla, Park, Min Ju, Kivioja, Teemu, Clark, Alison D., Mäkinen, Netta, Gao, Fangjian, Palin, Kimmo, Nurkkala, Helka, Vähärautio, Anna, Aavikko, Mervi, Kämpjärvi, Kati, Vahteristo, Pia, Kim, Chongwoo A., Aaltonen, Lauri A., Varjosalo, Markku, Taipale, Jussi, Boyer, Thomas G.
Published in Cell reports (Cambridge) (08.05.2014)
Published in Cell reports (Cambridge) (08.05.2014)
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Journal Article
MED12 exon 2 mutations in histopathological uterine leiomyoma variants
Mäkinen, Netta, Vahteristo, Pia, Kämpjärvi, Kati, Arola, Johanna, Bützow, Ralf, Aaltonen, Lauri A
Published in European journal of human genetics : EJHG (01.11.2013)
Published in European journal of human genetics : EJHG (01.11.2013)
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Uterine leiomyomas in hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome can be identified through distinct clinical characteristics and typical morphology
Uimari, Outi, Ahtikoski, Anne, Kämpjärvi, Kati, Butzow, Ralf, Järvelä, Ilkka Y., Ryynänen, Markku, Aaltonen, Lauri A., Vahteristo, Pia, Kuismin, Outi
Published in Acta obstetricia et gynecologica Scandinavica (01.11.2021)
Published in Acta obstetricia et gynecologica Scandinavica (01.11.2021)
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MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas
Kämpjärvi, Kati, Mäkinen, Netta, Mehine, Miika, Välipakka, Salla, Uimari, Outi, Pitkänen, Esa, Heinonen, Hanna-Riikka, Heikkinen, Tuomas, Tolvanen, Jaana, Ahtikoski, Anne, Frizzell, Norma, Sarvilinna, Nanna, Sjöberg, Jari, Bützow, Ralf, Aaltonen, Lauri A, Vahteristo, Pia
Published in British journal of cancer (14.06.2016)
Published in British journal of cancer (14.06.2016)
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Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene
Yahya, Samar, Smith, Claire E.L., Poulter, James A., McKibbin, Martin, Arno, Gavin, Ellingford, Jamie, Kämpjärvi, Kati, Khan, Muhammad I., Cremers, Frans P.M., Hardcastle, Alison J., Castle, Bruce, Steel, David H.W., Webster, Andrew R., Black, Graeme C., El-Asrag, Mohammed E., Ali, Manir, Toomes, Carmel, Inglehearn, Chris F., Ingram, Stuart, Taylor, Rachel, Manson, Forbes, Sergouniotis, Panagiotis, Pontikos, Nikolas, Cheetham, Michael, Fiorentino, Alessia, Downes, Susan, Yu, Jing, Halford, Stephanie, Broadgate, Suzanne, van Heyningen, Veronica, Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Caulfield, Mark J., Chan, Georgia C., Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Pereira, Mariana Buongermino, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M.
Published in Ophthalmology (Rochester, Minn.) (01.01.2023)
Published in Ophthalmology (Rochester, Minn.) (01.01.2023)
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Mutations in Exon 1 Highlight the Role of MED12 in Uterine Leiomyomas
Kämpjärvi, Kati, Park, Min Ju, Mehine, Miika, Kim, Nam Hee, Clark, Alison D., Bützow, Ralf, Böhling, Tom, Böhm, Jan, Mecklin, Jukka-Pekka, Järvinen, Heikki, Tomlinson, Ian P.M., van der Spuy, Zephne M., Sjöberg, Jari, Boyer, Thomas G., Vahteristo, Pia
Published in Human mutation (01.09.2014)
Published in Human mutation (01.09.2014)
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Journal Article
Somatic MED12 mutations are associated with poor prognosis markers in chronic lymphocytic leukemia
Kämpjärvi, Kati, Järvinen, Tiina M, Heikkinen, Tuomas, Ruppert, Amy S, Senter, Leigha, Hoag, Kevin W, Dufva, Olli, Kontro, Mika, Rassenti, Laura, Hertlein, Erin, Kipps, Thomas J, Porkka, Kimmo, Byrd, John C, de la Chapelle, Albert, Vahteristo, Pia
Published in Oncotarget (30.01.2015)
Published in Oncotarget (30.01.2015)
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Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability
Corradi, Zelia, Khan, Mubeen, Hitti-Malin, Rebekkah, Mishra, Ketan, Whelan, Laura, Cornelis, Stéphanie S., Hoyng, Carel B., Kämpjärvi, Kati, Klaver, Caroline C.W., Liskova, Petra, Stöhr, Heidi, Weber, Bernhard H.F., Banfi, Sandro, Farrar, G. Jane, Sharon, Dror, Zernant, Jana, Allikmets, Rando, Dhaenens, Claire-Marie, Cremers, Frans P.M.
Published in HGG advances (12.10.2023)
Published in HGG advances (12.10.2023)
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Breast tumors from CHEK2 1100delC-mutation carriers: genomic landscape and clinical implications
Muranen, Taru A, Greco, Dario, Fagerholm, Rainer, Kilpivaara, Outi, Kämpjärvi, Kati, Aittomäki, Kristiina, Blomqvist, Carl, Heikkilä, Päivi, Borg, Ake, Nevanlinna, Heli
Published in Breast cancer research : BCR (20.09.2011)
Published in Breast cancer research : BCR (20.09.2011)
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Journal Article
Somatic MED12 Nonsense Mutation Escapes mRNA Decay and Reveals a Motif Required for Nuclear Entry
Heikkinen, Tuomas, Kämpjärvi, Kati, Keskitalo, Salla, von Nandelstadh, Pernilla, Liu, Xiaonan, Rantanen, Ville, Pitkänen, Esa, Kinnunen, Matias, Kuusanmäki, Heikki, Kontro, Mika, Turunen, Mikko, Mäkinen, Netta, Taipale, Jussi, Heckman, Caroline, Lehti, Kaisa, Mustjoki, Satu, Varjosalo, Markku, Vahteristo, Pia
Published in Human mutation (01.03.2017)
Published in Human mutation (01.03.2017)
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Journal Article
Somatic MED12 mutations in prostate cancer and uterine leiomyomas promote tumorigenesis through distinct mechanisms
Kämpjärvi, Kati, Kim, Nam Hee, Keskitalo, Salla, Clark, Alison D., von Nandelstadh, Pernilla, Turunen, Mikko, Heikkinen, Tuomas, Park, Min Ju, Mäkinen, Netta, Kivinummi, Kati, Lintula, Susanna, Hotakainen, Kristina, Nevanlinna, Heli, Hokland, Peter, Böhling, Tom, Bützow, Ralf, Böhm, Jan, Mecklin, Jukka-Pekka, Järvinen, Heikki, Kontro, Mika, Visakorpi, Tapio, Taipale, Jussi, Varjosalo, Markku, Boyer, Thomas G., Vahteristo, Pia
Published in The Prostate (01.01.2016)
Published in The Prostate (01.01.2016)
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Journal Article
Characterization of Uterine Leiomyomas by Whole-Genome Sequencing
Mehine, Miika, Kaasinen, Eevi, Mäkinen, Netta, Katainen, Riku, Kämpjärvi, Kati, Pitkänen, Esa, Heinonen, Hanna-Riikka, Bützow, Ralf, Kilpivaara, Outi, Kuosmanen, Anna, Ristolainen, Heikki, Gentile, Massimiliano, Sjöberg, Jari, Vahteristo, Pia, Aaltonen, Lauri A
Published in The New England journal of medicine (04.07.2013)
Published in The New England journal of medicine (04.07.2013)
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Journal Article
Five Polymorphisms and Breast Cancer Risk: Results from the Breast Cancer Association Consortium
GAUDET, Mia M, MILNE, Roger L, BAGLIETTO, Laura, ENGLISH, Dallas R, COUCH, Fergus J, OLSON, Janet E, XIANSHU WANG, CHANG-CLAUDE, Jenny, FLESCH-JANYS, Dieter, ABBAS, Sascha, SALAZAR, Ramona, MANNERMAA, Arto, COX, Angela, KATAJA, Vesa, KOSMA, Veli-Matti, LINDBLOM, Annika, MARGOLIN, Sara, HEIKKINEN, Tuomas, KÄMPJÄRVI, Kati, AALTONEN, Kirsimari, NEVANLINNA, Heli, BOGDANOVA, Natalia, COINAC, Irina, CAMP, Nicola J, SCHÜRMANN, Peter, DÖRK, Thilo, BARTRAM, Claus R, SCHMUTZLER, Rita K, TCHATCHOU, Sandrine, BURWINKEL, Barbara, BRAUCH, Hiltrud, TORRES, Diana, HAMANN, Ute, JUSTENHOVEN, Christina, GOODE, Ellen L, RIBAS, Gloria, ARIAS, José I, BENITEZ, Javier, BOJESEN, Stig E, NORDESTGAARD, Børge G, FLYGER, Henrik L, PETO, Julian, FLETCHER, Olivia, JOHNSON, Nichola, DOS SANTOS SILVA, Isabel, HUMPHREYS, Manjeet K, FASCHING, Peter A, BECKMANN, Matthias W, STRICK, Reiner, EKICI, Arif B, BROEKS, Annegien, SCHMIDT, Marjanka K, VAN LEEUWEN, Flora E, VAN'T VEER, Laura J, SOUTHEY, Melissa C, HOPPER, John L, DUNNING, Alison M, MORRISON, Jonathan, GILES, Graham G, SEVERI, Gianluca
Published in Cancer epidemiology, biomarkers & prevention (01.05.2009)
Published in Cancer epidemiology, biomarkers & prevention (01.05.2009)
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Journal Article
MED12 mutation frequency in unselected sporadic uterine leiomyomas
Heinonen, Hanna-Riikka, M.B, Sarvilinna, Nanna S., M.D., Ph.D, Sjöberg, Jari, M.D., Ph.D, Kämpjärvi, Kati, M.Sc, Pitkänen, Esa, Ph.D, Vahteristo, Pia, Ph.D, Mäkinen, Netta, M.Sc, Aaltonen, Lauri A., M.D., Ph.D
Published in Fertility and sterility (01.10.2014)
Published in Fertility and sterility (01.10.2014)
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P626: Clinical utility of structural variant calling using breakpoint analysis method for targeted NGS gene panels
Koskinen, Lotta, Andreevskaya, Margarita, Muona, Mikko, Pietila, Tuuli, Djupsjöbacka, Janica, Kytölä, Ville, Kämpjärvi, Kati, Myllykangas, Samuel, Salmenperä, Pertteli, Koskenvuo, Juha, Valori, Miko
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Journal Article
Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
Antoniou, Antonis C., Spurdle, Amanda B., Sinilnikova, Olga M., Healey, Sue, Pooley, Karen A., Schmutzler, Rita K., Versmold, Beatrix, Engel, Christoph, Meindl, Alfons, Arnold, Norbert, Hofmann, Wera, Sutter, Christian, Niederacher, Dieter, Deissler, Helmut, Caldes, Trinidad, Kämpjärvi, Kati, Nevanlinna, Heli, Simard, Jacques, Beesley, Jonathan, Chen, Xiaoqing, Neuhausen, Susan L., Rebbeck, Timothy R., Wagner, Theresa, Lynch, Henry T., Isaacs, Claudine, Weitzel, Jeffrey, Ganz, Patricia A., Daly, Mary B., Tomlinson, Gail, Olopade, Olufunmilayo I., Blum, Joanne L., Couch, Fergus J., Peterlongo, Paolo, Manoukian, Siranoush, Barile, Monica, Radice, Paolo, Szabo, Csilla I., Pereira, Lutecia H. Mateus, Greene, Mark H., Rennert, Gad, Lejbkowicz, Flavio, Barnett-Griness, Ofra, Andrulis, Irene L., Ozcelik, Hilmi, Gerdes, Anne-Marie, Caligo, Maria A., Laitman, Yael, Kaufman, Bella, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M., Nathanson, Katherine L., Osorio, Ana, Llort, Gemma, Milne, Roger L., Benítez, Javier, Hamann, Ute, Hogervorst, Frans B.L., Manders, Peggy, Ligtenberg, Marjolijn J.L., van den Ouweland, Ans M.W., Peock, Susan, Cook, Margaret, Platte, Radka, Evans, D. Gareth, Eeles, Rosalind, Pichert, Gabriella, Chu, Carol, Eccles, Diana, Davidson, Rosemarie, Douglas, Fiona, Godwin, Andrew K., Barjhoux, Laure, Mazoyer, Sylvie, Sobol, Hagay, Bourdon, Violaine, Eisinger, François, Chompret, Agnès, Capoulade, Corinne, Bressac-de Paillerets, Brigitte, Lenoir, Gilbert M., Gauthier-Villars, Marion, Houdayer, Claude, Stoppa-Lyonnet, Dominique, Chenevix-Trench, Georgia, Easton, Douglas F.
Published in American journal of human genetics (01.04.2008)
Published in American journal of human genetics (01.04.2008)
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Journal Article
Breast tumors from CHEK2 1100delC mutation carriers: genomic landscape and clinical implications
Muranen, Taru A, Greco, Dario, Fagerholm, Rainer, Kilpivaara, Outi, Kampjarvi, Kati, Aittomaki, Kristiina, Blomqvist, Carl, Heikkila, Paivi, Borg, Ake, Nevanlinna, Heli
Published in Breast cancer research : BCR (04.05.2011)
Published in Breast cancer research : BCR (04.05.2011)
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