Lac

hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression. J. Biol. Chem. 1997, 272 (22), 14025-14028. 33.

22. West, A.P., Jr.; Giannetti, A.M.; Herr, A.B.; Bennett, M.J.; Nangiana, J.S.; Pierce, J.R.; Weiner, L.P.; Snow, P.M.; Bjorkman, P.J. Mutational analysis of the transferrin receptor reveals overlapping HFE and transferrin binding sites. J. Mol. Biol. 2001, 313 (2), 385-397.

23. Gross, C.N.; Irrinki, A.; Feder, J.N.; Enns, C.A. Co- 34. trafficking of HFE, a nonclassical major histocompatibility complex class I protein, with the transferrin receptor implies a role in intracellular iron regulation. J. Biol. Chem. 1998, 273 (34), 22068-22074.

24. Barton, J.C.; Acton, R.T. Transferrin saturation phenotype 35. and HFE genotype screening for hemochromatosis and primary iron overload: Predictions from a model based on national, racial, and ethnic group composition in central Alabama. Genet. Test. 2000, 4 (2), 199-206.

25. Camaschella, C. Juvenile haemochromatosis. Baillieres 36. Clin. Gastroenterol. 1998, 12 (2), 227-235.

26. Roetto, A.; Papanikolaou, G.; Politou, M.; Alberti, F.; Girelli, D.; Christakis, J.; Loukopoulos, D.; Camaschella, C. Mutant antimicrobial peptide hepcidin is associated 37. with severe juvenile hemochromatosis. Nat. Genet. 2003, 33 (1), 21-22.

27. Biasiotto, G.; Belloli, S.; Ruggeri, G.; Zanella, I.; Gerardi, G.; Corrado, M.; Gobbi, E.; Albertini, A.; Arosio, P. 38. Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload. Clin. Chem. 2003, 49 (12), 1981-1988.

28. Merryweather-Clarke, A.T.; Cadet, E.; Bomford, A.; 39. Capron, D.; Viprakasit, V.; Miller, A.; McHugh, P.J.; Chapman, R.W.; Pointon, J.J.; Wimhurst, V.L.; Livesey, K.J.; Tanphaichitr, V.; Rochette, J.; Robson, K.J. Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. Hum. Mol. Genet. 40. 2003, 12 (17), 2241-2247.

29. Jacolot, S.; Le Gac, G.; Scotet, V.; Quere, I.; Mura, C.; Ferec, C. Hamp as a modifier gene that increase the phenotypic expression of the HFE p.C282Y homozygous genotype. Blood 2004, 103 (7), 2835-2840.

30. Papanikolaou, G.; Samuels, M.E.; Ludwig, E.H.; Mac- 41. Donald, M.L.; Franchini, P.L.; Dube, M.P.; Andres, L.; MacFarlane, J.; Sakellaropoulos, N.; Politou, M.; Nemeth, E.; Thompson, J.; Risler, J.K.; Zaborowska, C.; Babakaiff, R.; Radomski, C.C.; Pape, T.D.; Davidas, O.; Christakis, J.; Brissot, P.; Lockitch, G.; Ganz, T.; Hayden, M.R.; Goldberg, Y.P. Mutations in HFE2 cause iron overload in 42. chromosome 1q-linked juvenile hemochromatosis. Nat.

31. Camaschella, C.; Roetto, A.; Cali, A.; DeGobbi, M.; Garozzo, G.; Carella, M.; Majorano, N.; Totaro, A.; Gasparini, P. The gene TFR2 is mutated in a new type 43 of haemochromatosis mapping to 7q22. Nat. Genet. 2000,

32. Roetto, A.; Totaro, A.; Piperno, A.; Piga, A.; Longo, F.; Garozzo, G.; Cali, A.; DeGobbi, M.; Gasparini, P.; Camaschella, C. New mutations inactivating transferrin 44.

receptor 2 in hemochromatosis type 3. Blood 2001, 97 (9), 2555-2560.

Mattman, A.; Huntsman, D.; Lockitch, G.; Langlois, S.; Buskard, N.; Ralston, D.; Butterfield, Y.; Rodrigues, P.; Jones, S.; Porto, G.; Marra, M.; DeSousa, M.; Vatcher, G. Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: Identification of a novel TfR2 mutation. Blood 2002, 100 (3), 1075-1077. Hattori, A.; Wakusawa, S.; Hayashi, H.; Harashima, A.; Sanae, F.; Kawanaka, M.; Yamada, G.; Yano, M.; Yoshioka, K. AVAQ 594-597 deletion of the TfR2 gene in a Japanese family with hemochromatosis. Hepatol. Res. 2003, 26 (2), 154-156.

Girelli, D.; Bozzini, C.; Roetto, A.; Alberti, F.; Daraio, F.; Colombari, R.; Olivieri, O.; Corrocher, R.; Camaschella, C. Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene. Gastroenterology 2002, 122 (5), 1295-1302. Hofmann, W.K.; Tong, X.J.; Ajioka, R.S.; Kushner, J.P.; Koeffler, H.P. Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis. Blood 2002, 100 (3), 1099-1100.

Lee, P.L.; Halloran, C.; West, C.; Beutler, E. Mutation analysis of the transferrin receptor-2 gene in patients with iron overload. Blood Cells Mol. Diseases 2001, 27 (1), 285-289.

Barton, E.H.; West, P.A.; Rivers, C.A.; Barton, J.C.; Acton, R.T. Transferrin receptor-2 (TFR2) mutation Y250X in Alabama Caucasian and African American subjects with and without primary iron overload. Blood Cells Mol. Diseases 2001, 27 (1), 279-284. Barton, J.C.; Acton, R.T.; Rivers, C.A.; Bertoli, L.F.; Gelbart, T.; West, C.; Beutler, E. Genotypic and phenotypic heterogeneity of African Americans with primary iron overload. Blood Cells Mol. Diseases 2003, 31 (3), 310-319.

Njajou, O.T.; Vaessen, N.; Joosse, M.; Berghuis, B.; van Dongen, J.W.; Breuning, M.H.; Snijders, P.J.; Rutten, W.P.; Sandkuijl, L.A.; Oostra, B.A.; van Duijn, C.M.; Heutink, P. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat. Genet. 2001, 28 (3), 213-214.

Montosi, G.; Donovan, A.; Totaro, A.; Garuti, C.; Pignatti, E.; Cassanelli, S.; Trenor, C.C.; Gasparini, P.; Andrews, N.C.; Pietrangelo, A. Autosomal-dominant hemochroma-tosis is associated with a mutation in the ferroportin (SLC11A3) gene. J. Clin. Invest. 2001, 108 (4), 619623.

Wallace, D.F.; Pedersen, P.; Dixon, J.L.; Stephenson, P.; Searle, J.W.; Powell, L.W.; Subramaniam, V.N. Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis. Blood 2002, 100 (2), 692694.

Devalia, V.; Carter, K.; Walker, A.P.; Perkins, S.J.; Worwood, M.; May, A.; Dooley, J.S. Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3). Blood 2002, 100 (2), 695-697.

Roetto, A.; Merryweather-Clarke, A.T.; Daraio, F.; Livesey,

K.; Pointon, J.J.; Barbabietola, G.; Piga, A.; Mackie, P.H.; Robson, K.J.; Camaschella, C. A valine deletion of ferroportin 1: A common mutation in hemochromastosis 49. type 4. Blood 2002, 100 (2), 733-734.

45. Njajou, O.T.; de Jong, G.; Berghuis, B.; Vaessen, N.; Snijders, P.J.; Goossens, J.P.; Wilson, J.H.; Bruening, M.H.; Oostra, B.A.; Heutink, P.; Sandkuijl, L.A.; van Duijn, C.M. Dominant hemochromatosis due to N144H mutation of SLC11A3: Clinical and biological characteristics. Blood Cells Mol. Diseases 2002, 29 (3), 439-443.

46. Rivard, S.R.; Lanzara, C.; Grimard, D.; Carella, M.; Simard, H.; Ficarella, R.; Simard, R.; D'Adamo, A.P.; 50. DeBraekeleer, M.; Gasparini, P. Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene 51. (SLC11A3) in a large French-Canadian family. Haemato-logica 2003, 88 (7), 824-826.

47. Gordeuk, V.R.; Caleffi, A.; Corradini, E.; Ferrara, F.; Jones,

R.A.; Castro, O.; Onyekwere, O.; Kittles, R.; Pignatti, E.; 52. Montosi, G.; Garuti, C.; Gangaidzo, I.T.; Gomo, Z.A.; Moyo, V.M.; Rouault, T.A.; MacPhail, P.; Pietrangelo, A. Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene. 53. Blood Cells Mol. Diseases 2003, 31 (3), 299-304.

48. Beutler, E.; Barton, J.C.; Felitti, V.J.; Gelbart, T.; West, C.; Lee, P.L.; Waalen, J.; Vulpe, C. Ferroportin 1 (SCL40A1) variant associated with iron overload in African-Ameri cans. Blood Cells Mol. Diseases 2003, 31 (3), 305309.

McLaren, C.E.; Barton, J.C.; Adams, P.C.; Harris, E.L.; Acton, R.T.; Press, N.; Reboussin, D.M.; McLaren, G.D.; Sholinsky, P.; Walker, A.P.; Gordeuk, V.R.; Leiendecker-Foster, C.; Dawkins, F.W.; Eckfeldt, J.H.; Mellen, B.G.; Speechley, M.; Thomson, E. Hemochromatosis and iron overload study research investigators. Hemochromatosis and iron overload screening (HEIRS) study design for an evaluation of 100,000 primary care-based adults. Am. J. Med. Sci. 2003, 325 (2), 53-62.

Le Gac, G.; Mura, C.; Ferec, C. Complete scanning of the hereditary hemochromatosis gene (HFE) by use of denaturing HPLC. Clin. Chem. 2001, 47 (9), 1633-1640. Merryweather-Clarke, A.T.; Shearman, J.D.; Robson, K.J.; Pointon, J.J.; Liu, Y.T.; Bomford, A.; Dooley, J.; Walker, A.P.; Worwood, M. Hemochromatosis-related mutation detection. Blood 1998, 91 (7), 2620-2621. Jones, D.C.; Young, N.T.; Pigott, C.; Fuggle, S.V.; Barnardo, M.C.; Marshall, S.E.; Bunce, M. Comprehensive hereditary hemochromatosis genotyping. Tissue Antigens 2002, 60 (6), 481-488.

Palomaki, G.E.; Haddow, J.E.; Bradley, L.A.; Richards, C.S.; Stenzel, T.T.; Grody, W.W. Estimated analytic validity of HFE C282Y mutation testing in population screening: The potential value of confirmatory testing. Genet. Med. 2003, 5 (6), 440-443.

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Getting Started With Dumbbells

Getting Started With Dumbbells

The use of dumbbells gives you a much more comprehensive strengthening effect because the workout engages your stabilizer muscles, in addition to the muscle you may be pin-pointing. Without all of the belts and artificial stabilizers of a machine, you also engage your core muscles, which are your body's natural stabilizers.

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