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2. Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer. Alam NA; Olpin S; Rowan A; Kelsell D; Leigh IM; Tomlinson IP; Weaver T J Mol Diagn; 2005 Oct; 7(4):437-43. PubMed ID: 16237213 [TBL] [Abstract][Full Text] [Related]
3. Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. Alam NA; Rowan AJ; Wortham NC; Pollard PJ; Mitchell M; Tyrer JP; Barclay E; Calonje E; Manek S; Adams SJ; Bowers PW; Burrows NP; Charles-Holmes R; Cook LJ; Daly BM; Ford GP; Fuller LC; Hadfield-Jones SE; Hardwick N; Highet AS; Keefe M; MacDonald-Hull SP; Potts ED; Crone M; Wilkinson S; Camacho-Martinez F; Jablonska S; Ratnavel R; MacDonald A; Mann RJ; Grice K; Guillet G; Lewis-Jones MS; McGrath H; Seukeran DC; Morrison PJ; Fleming S; Rahman S; Kelsell D; Leigh I; Olpin S; Tomlinson IP Hum Mol Genet; 2003 Jun; 12(11):1241-52. PubMed ID: 12761039 [TBL] [Abstract][Full Text] [Related]
4. A cancer-predisposing "hot spot" mutation of the fumarase gene creates a dominant negative protein. Lorenzato A; Olivero M; Perro M; Brière JJ; Rustin P; Di Renzo MF Int J Cancer; 2008 Feb; 122(4):947-51. PubMed ID: 17960613 [TBL] [Abstract][Full Text] [Related]
5. Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer. Ahvenainen T; Lehtonen HJ; Lehtonen R; Vahteristo P; Aittomäki K; Baynam G; Dommering C; Eng C; Gruber SB; Grönberg H; Harvima R; Herva R; Hietala M; Kujala M; Kääriäinen H; Sunde L; Vierimaa O; Pollard PJ; Tomlinson IP; Björck E; Aaltonen LA; Launonen V Cancer Genet Cytogenet; 2008 Jun; 183(2):83-8. PubMed ID: 18503824 [TBL] [Abstract][Full Text] [Related]
6. Fumarase: a mitochondrial metabolic enzyme and a cytosolic/nuclear component of the DNA damage response. Yogev O; Yogev O; Singer E; Shaulian E; Goldberg M; Fox TD; Pines O PLoS Biol; 2010 Mar; 8(3):e1000328. PubMed ID: 20231875 [TBL] [Abstract][Full Text] [Related]
7. No germline FH mutations in familial breast cancer patients. Kiuru M; Lehtonen R; Eerola H; Aittomäki K; Blomqvist C; Nevanlinna H; Aaltonen LA; Launonen V Eur J Hum Genet; 2005 Apr; 13(4):506-9. PubMed ID: 15523491 [TBL] [Abstract][Full Text] [Related]
8. Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer. Alam NA; Olpin S; Leigh IM Br J Dermatol; 2005 Jul; 153(1):11-7. PubMed ID: 16029320 [TBL] [Abstract][Full Text] [Related]
9. Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families. Kiuru M; Lehtonen R; Arola J; Salovaara R; Järvinen H; Aittomäki K; Sjöberg J; Visakorpi T; Knuutila S; Isola J; Delahunt B; Herva R; Launonen V; Karhu A; Aaltonen LA Cancer Res; 2002 Aug; 62(16):4554-7. PubMed ID: 12183404 [TBL] [Abstract][Full Text] [Related]
10. Analysis of fumarate hydratase mutations in a population-based series of early onset uterine leiomyosarcoma patients. Ylisaukko-oja SK; Kiuru M; Lehtonen HJ; Lehtonen R; Pukkala E; Arola J; Launonen V; Aaltonen LA Int J Cancer; 2006 Jul; 119(2):283-7. PubMed ID: 16477632 [TBL] [Abstract][Full Text] [Related]
11. Mitochondrial and cytoplasmic fumarases in Saccharomyces cerevisiae are encoded by a single nuclear gene FUM1. Wu M; Tzagoloff A J Biol Chem; 1987 Sep; 262(25):12275-82. PubMed ID: 3040736 [TBL] [Abstract][Full Text] [Related]
12. Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors. Lehtonen R; Kiuru M; Vanharanta S; Sjöberg J; Aaltonen LM; Aittomäki K; Arola J; Butzow R; Eng C; Husgafvel-Pursiainen K; Isola J; Järvinen H; Koivisto P; Mecklin JP; Peltomäki P; Salovaara R; Wasenius VM; Karhu A; Launonen V; Nupponen NN; Aaltonen LA Am J Pathol; 2004 Jan; 164(1):17-22. PubMed ID: 14695314 [TBL] [Abstract][Full Text] [Related]
13. Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. Smit DL; Mensenkamp AR; Badeloe S; Breuning MH; Simon ME; van Spaendonck KY; Aalfs CM; Post JG; Shanley S; Krapels IP; Hoefsloot LH; van Moorselaar RJ; Starink TM; Bayley JP; Frank J; van Steensel MA; Menko FH Clin Genet; 2011 Jan; 79(1):49-59. PubMed ID: 20618355 [TBL] [Abstract][Full Text] [Related]
14. Morphology and Immunohistochemistry for 2SC and FH Aid in Detection of Fumarate Hydratase Gene Aberrations in Uterine Leiomyomas From Young Patients. Joseph NM; Solomon DA; Frizzell N; Rabban JT; Zaloudek C; Garg K Am J Surg Pathol; 2015 Nov; 39(11):1529-39. PubMed ID: 26457356 [TBL] [Abstract][Full Text] [Related]
16. Evolving dual targeting of a prokaryotic protein in yeast. Burak E; Yogev O; Sheffer S; Schueler-Furman O; Pines O Mol Biol Evol; 2013 Jul; 30(7):1563-73. PubMed ID: 23462316 [TBL] [Abstract][Full Text] [Related]
17. Multiple cutaneous and uterine leiomyomata resulting from missense mutations in the fumarate hydratase gene. Chuang GS; Martinez-Mir A; Engler DE; Gmyrek RF; Zlotogorski A; Christiano AM Clin Exp Dermatol; 2006 Jan; 31(1):118-21. PubMed ID: 16309500 [TBL] [Abstract][Full Text] [Related]
18. A novel mutation of the fumarase gene in a family with autosomal recessive fumarase deficiency. Remes AM; Filppula SA; Rantala H; Leisti J; Ruokonen A; Sharma S; Juffer AH; Hiltunen JK J Mol Med (Berl); 2004 Aug; 82(8):550-4. PubMed ID: 15221078 [TBL] [Abstract][Full Text] [Related]
19. Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma. Gardie B; Remenieras A; Kattygnarath D; Bombled J; Lefèvre S; Perrier-Trudova V; Rustin P; Barrois M; Slama A; Avril MF; Bessis D; Caron O; Caux F; Collignon P; Coupier I; Cremin C; Dollfus H; Dugast C; Escudier B; Faivre L; Field M; Gilbert-Dussardier B; Janin N; Leport Y; Leroux D; Lipsker D; Malthieu F; McGilliwray B; Maugard C; Méjean A; Mortemousque I; Plessis G; Poppe B; Pruvost-Balland C; Rooker S; Roume J; Soufir N; Steinraths M; Tan MH; Théodore C; Thomas L; Vabres P; Van Glabeke E; Meric JB; Verkarre V; Lenoir G; Joulin V; Deveaux S; Cusin V; Feunteun J; Teh BT; Bressac-de Paillerets B; Richard S; J Med Genet; 2011 Apr; 48(4):226-34. PubMed ID: 21398687 [TBL] [Abstract][Full Text] [Related]
20. A single base-pair change (ATG-->ATC) nullifies the activity of cytosolic fumarase in Saccharomyces cerevisiae. Wu M; Wong SM; Tan HM; Ting R Biochem Biophys Res Commun; 1995 Oct; 215(2):578-90. PubMed ID: 7487995 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]