Works matching Hereditary leiomyomatosis and renal cell cancer (HLRCC)

Results: 81
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    Complete response of hereditary leiomyomatosis and renal cell cancer (HLRCC)-associated renal cell carcinoma to nivolumab and ipilimumab combination immunotherapy by: a case report.

    Published in:
    Familial Cancer, 2021, v. 20, n. 1, p. 75, doi. 10.1007/s10689-020-00195-0
    By:
    • Iribe, Yasuhiro;
    • Furuya, Mitsuko;
    • Shibata, Yousuke;
    • Yasui, Masato;
    • Funahashi, Makoto;
    • Ota, Junichi;
    • Iwashita, Hiromichi;
    • Nagashima, Yoji;
    • Hasumi, Hisashi;
    • Hayashi, Narihiko;
    • Makiyama, Kazuhide;
    • Kondo, Keiichi;
    • Tanaka, Reiko;
    • Yao, Masahiro;
    • Nakaigawa, Noboru
    Publication type:
    Article
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    Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization.

    Published in:
    Cancers, 2020, v. 12, n. 11, p. 3277, doi. 10.3390/cancers12113277
    By:
    • Sánchez-Heras, A. Beatriz;
    • Castillejo, Adela;
    • García-Díaz, Juan D.;
    • Robledo, Mercedes;
    • Teulé, Alexandre;
    • Sánchez, Rosario;
    • Zúñiga, Ángel;
    • Lastra, Enrique;
    • Durán, Mercedes;
    • Llort, Gemma;
    • Yagüe, Carmen;
    • Ramon y Cajal, Teresa;
    • López San Martin, Consol;
    • López-Fernández, Adrià;
    • Balmaña, Judith;
    • Robles, Luis;
    • Mesa-Latorre, José M.;
    • Chirivella, Isabel;
    • Fonfria, María;
    • Perea Ibañez, Raquel
    Publication type:
    Article
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    Mitochondrial DNA alterations underlie an irreversible shift to aerobic glycolysis in fumarate hydratase–deficient renal cancer.

    Published in:
    Science Signaling, 2021, v. 14, n. 664, p. 1, doi. 10.1126/scisignal.abc4436
    By:
    • Crooks, Daniel R.;
    • Maio, Nunziata;
    • Lang, Martin;
    • Ricketts, Christopher J.;
    • Vocke, Cathy D.;
    • Gurram, Sandeep;
    • Turan, Sevilay;
    • Kim, Yun-Young;
    • Cawthon, G. Mariah;
    • Sohelian, Ferri;
    • De Val, Natalia;
    • Pfeiffer, Ruth M.;
    • Jailwala, Parthav;
    • Tandon, Mayank;
    • Tran, Bao;
    • Fan, Teresa W.-M.;
    • Lane, Andrew N.;
    • Ried, Thomas;
    • Wangsa, Darawalee;
    • Malayeri, Ashkan A.
    Publication type:
    Article
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    Proteogenomic landscape of uterine leiomyomas from hereditary leiomyomatosis and renal cell cancer patients.

    Published in:
    Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-88585-x
    By:
    • Bateman, Nicholas W.;
    • Tarney, Christopher M.;
    • Abulez, Tamara;
    • Soltis, Anthony R.;
    • Zhou, Ming;
    • Conrads, Kelly;
    • Litzi, Tracy;
    • Oliver, Julie;
    • Hood, Brian;
    • Driggers, Paul;
    • Viollet, Coralie;
    • Dalgard, Clifton;
    • Wilkerson, Matthew;
    • Catherino, William;
    • Hamilton, Chad A.;
    • Darcy, Kathleen M.;
    • Casablanca, Yovanni;
    • Al-Hendy, Ayman;
    • Segars, James;
    • Conrads, Thomas P.
    Publication type:
    Article
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    Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status.

    Published in:
    Journal of Pathology, 2011, v. 225, n. 1, p. 4, doi. 10.1002/path.2932
    By:
    • Bardella, Chiara;
    • El-Bahrawy, Mona;
    • Frizzell, Norma;
    • Adam, Julie;
    • Ternette, Nicola;
    • Hatipoglu, Emine;
    • Howarth, Kimberley;
    • O'Flaherty, Linda;
    • Roberts, Ian;
    • Turner, Gareth;
    • Taylor, Jennifer;
    • Giaslakiotis, Konstantinos;
    • Macaulay, Valentine M;
    • Harris, Adrian L;
    • Chandra, Ashish;
    • Lehtonen, Heli J;
    • Launonen, Virpi;
    • Aaltonen, Lauri A;
    • Pugh, Christopher W;
    • Mihai, Radu
    Publication type:
    Article
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    MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas.

    Published in:
    2016
    By:
    • 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;
    • Kämpjärvi, Kati;
    • Mäkinen, Netta;
    • Välipakka, Salla;
    • Pitkänen, Esa
    Publication type:
    journal article
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    Haem oxygenase is synthetically lethal with the tumour suppressor fumarate hydratase.

    Published in:
    Nature, 2011, v. 477, n. 7363, p. 225, doi. 10.1038/nature10363
    By:
    • Frezza, Christian;
    • Zheng, Liang;
    • Folger, Ori;
    • Rajagopalan, Kartik N.;
    • MacKenzie, Elaine D.;
    • Jerby, Livnat;
    • Micaroni, Massimo;
    • Chaneton, Barbara;
    • Adam, Julie;
    • Hedley, Ann;
    • Kalna, Gabriela;
    • Tomlinson, Ian P. M.;
    • Pollard, Patrick J.;
    • Watson, Dave G.;
    • Deberardinis, Ralph J.;
    • Shlomi, Tomer;
    • Ruppin, Eytan;
    • Gottlieb, Eyal
    Publication type:
    Article
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