1 | FH
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| The emerging role of fumarate as an oncometabolite.
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| Yang M, Soga T, Pollard PJ, Adam J.
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| Front Oncol 2:85. Epub 2012 Jul 31.
2012
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2 | FH
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| Strong family history of uterine leiomyomatosis warrants fumarate hydratase mutation screening.
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| Tolvanen J, Uimari O, Ryynänen M, Aaltonen LA, Vahteristo P.
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| Hum Reprod 27(6):1865-9. Epub 2012 Apr 3.
2012
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3 | FH
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| Reduced expression of fumarate hydratase in clear cell renal cancer mediates HIF-2α accumulation and promotes migration and invasion.
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| Sudarshan S, Shanmugasundaram K, Naylor SL, Lin S, Livi CB, O'Neill CF, Parekh DJ, Yeh IT, Sun LZ, Block K.
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| PLoS One 6(6):e21037. Epub 2011 Jun 14.
2011
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4 | FH
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| Fumarase: a paradigm of dual targeting and dual localized functions.
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| Yogev O, Naamati A, Pines O.
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| FEBS J 278(22):4230-42. doi: 10.1111/j.1742-4658.2011.08359.x. Epub 2011 Oct 24. Review.
2011
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5 | FH, FHD
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| Clinical and biochemical heterogeneity associated with fumarase deficiency.
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| Ottolenghi C, Hubert L, Allanore Y, Brassier A, Altuzarra C, Mellot-Draznieks C, Bekri S, Goldenberg A, Veyrieres S, Boddaert N, Barbier V, Valayannopoulos V, Slama A, Chrétien D, Ricquier D, Marret S, Frebourg T, Rabier D, Munnich A, de Keyzer Y, Toulhoat H, de Lonlay P.
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| Hum Mutat um Mutat. 2011 May 10. doi: 10.1002/humu.21534. [Epub ahead of print]
2011
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6 | FH, FHD
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| Structural basis of fumarate hydratase deficiency.
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| Picaud S, Kavanagh KL, Yue WW, Lee WH, Muller-Knapp S, Gileadi O, Sacchettini J, Oppermann U.
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| J Inherit Metab Dis 34(3):671-6. Epub 2011 Mar 29.
2011
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7 | FH, HLRCC, MCUL1
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| A novel missense mutation in fumarate hydratase in an Italian patient with a diffuse variant of cutaneous leiomyomatosis (Reed's syndrome).
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| Rongioletti F, Fausti V, Ferrando B, Parodi A, Mandich P, Pasini B.
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| Dermatology 221(4):378-80. Epub 2010 Nov 5.
2010
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8 | FH, MET
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| Fumarase tumor suppressor gene and MET oncogene cooperate in upholding transformation and tumorigenesis.
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| Costa B, Dettori D, Lorenzato A, Bardella C, Coltella N, Martino C, Cammarata C, Carmeliet P, Olivero M, Di Renzo MF.
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| FASEB J 24(8):2680-8. Epub 2010 Mar 30.
2010
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9 | HLRCC, FH
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| Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer.
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| Pithukpakorn M, Wei MH, Toure O, Steinbach PJ, Glenn GM, Zbar B, Linehan WM, Toro JR.
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| J Med Genet 43(9):755-62. Epub 2006 Apr 5. 2006
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10 | FH, MCUL1, HLRCC
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| Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer.
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| Wei MH, Toure O, Glenn GM, Pithukpakorn M, Neckers L, Stolle C, Choyke P, Grubb R, Middelton L, Turner ML, Walther MM, Merino MJ, Zbar B, Linehan WM, Toro JR.
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| J Med Genet 43(1):18-27. Epub 2005 Jun 3. 2006
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11 | FH
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| Increased risk of cancer in patients with fumarate hydratase germline mutation.
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| Lehtonen HJ, Kiuru M, Ylisaukko-Oja SK, Salovaara R, Herva R, Koivisto PA, Vierimaa O, Aittomaki K, Pukkala E, Launonen V, Aaltonen LA.
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| J Med Genet 43(6):523-6. Epub 2005 Sep 9. 2006
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12 | FH, FHD
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| Molecular and biochemical investigations in fumarase deficiency.
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| Deschauer M, Gizatullina Z, Schulze A, Pritsch M, Knoppel C, Knape M, Zierz S, Gellerich FN.
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| Mol Genet Metab 88(2):146-52. Epub 2006 Feb 28. 2006
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13 | FH, HLRCC
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| Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma.
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| Ylisaukko-oja SK, Cybulski C, Lehtonen R, Kiuru M, Matyjasik J, Szymanska A, Szymanska-Pasternak J, Dyrskjot L, Butzow R, Orntoft TF, Launonen V, Lubinski J, Aaltonen LA.
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| Eur J Hum Genet 14(7):880-3. Epub 2006 Apr 26. 2006
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14 | FH
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| Adult leydig cell tumors of the testis caused by germline fumarate hydratase mutations.
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| Carvajal-Carmona LG, Alam NA, Pollard PJ, Jones AM, Barclay E, Wortham N, Pignatelli M, Freeman A, Pomplun S, Ellis I, Poulsom R, El-Bahrawy MA, Berney DM, Tomlinson IP.
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| J Clin Endocrinol Metab 91(8):3071-5. Epub 2006 Jun 6. 2006
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15 | MCUL1, HLRCC, FH
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| Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer.
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| Chan I, Wong T, Martinez-Mir A, Christiano AM, McGrath JA.
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| Clin Exp Dermatol 30(1):75-8. 2005
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16 | FH, MCUL1, HLRCC, FHD
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| Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency.
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| 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.
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| Hum Mol Genet 12(11):1241-52. 2003
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17 | FH, MCUL1, HLRCC
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| Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America.
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| Toro JR, Nickerson ML, Wei MH, Warren MB, Glenn GM, Turner ML, Stewart L, Duray P, Tourre O, Sharma N, Choyke P, Stratton P, Merino M, Walther MM, Linehan WM, Schmidt LS, Zbar B.
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| Am J Hum Genet 73(1):95-106. Epub 2003 May 22. 2003
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18 | FH, HLRCC, MCUL1
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| Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.
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| Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D, Leigh I, Gorman P, Lamlum H, Rahman S, Roylance RR, Olpin S, Bevan S, Barker K, Hearle N, Houlston RS, Kiuru M, Lehtonen R, Karhu A, Vilkki S, Laiho P, Eklund C, Vierimaa O, Aittomaki K, Hietala M, Sistonen P, Paetau A, Salovaara R, Herva R, Launonen V, Aaltonen LA.
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| Nat Genet 30(4):406-10. 2002
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19 | FH, FHD
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| Molecular analysis and prenatal diagnosis of human fumarase deficiency.
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| Coughlin EM, et al.
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| Mol Genet Metab 63 : 254-262. 1998
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20 | FH, FHD
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| Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.
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| Bourgeron T, et al.
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| J Clin Invest 93 : 2514-2518. 1994
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21 | FH, FHD
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| Identification of a molecular defect in a fumarase deficient patient and mapping of the fumarase gene.
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| Coughlin EM, et al.
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| Am J Hum Genet 53 : 896. 1993
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22 | FH, FHD
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| Deficient fumarase activity in an infant with fumaricacidemia and its distribution between the different forms of the enzyme seen on isoelectric focusing.
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| Petrova-Benedict R, et al.
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| Am J Hum Genet 40 : 257-266. 1987
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23 | FH, GUK1
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| Regional mapping of FH to band 1q42.1 by gene dosage studies.
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| Despoisses S, et al.
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| (HGM7) Cytogenet Cell Genet 37 : 450-451. 1984
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24 | FH
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| Mitochondrial and cytoplasmic forms of fumarate hydratase assigned to chromosome 1.
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| Craig I, et al.
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| Cytogenet Cell Genet 16 : 118-121. 1976
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25 | FH, UGP1
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| Synteny of the human loci for fumarate hydratase and UDPG pyrophosphorylase with chromosome 1 markers in somatic cell hybrids.
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| Van Someren H, et al.
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| Cytogenet Cell Genet 13 : 551-557. 1974
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