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