Gene Review:
HFE2 - hemochromatosis type 2 (juvenile)
Homo sapiens
Synonyms:
HFE2A, HJV, Hemochromatosis type 2 protein, Hemojuvelin, JH, ...
Caleffi,
Rivers,
Angelopoulos,
Barton,
Pietrangelo,
Fabio,
Niyongere,
Tolis,
Henrion,
Ferrara,
Lee,
Kulaksiz,
Stremmel,
Cappellini,
Corradini,
Brandhagen,
Bianchi,
Andreone,
Barton,
Delbini,
Pietrangelo,
Acton,
Bohannon,
Minonzio,
Beutler,
Papanikolaou,
Goula,
An-Sheng Zhang,
Fan Yang,
Kathrin Meyer,
Catalina Hernandez,
Tara Chapman-Arvedson,
Pamela J. Bjorkman,
Caroline A. Enns,
Garuti,
- Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Papanikolaou, G., Samuels, M.E., Ludwig, E.H., MacDonald, M.L., Franchini, P.L., Dubé, 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. Nat. Genet. (2004)
- Juvenile hemochromatosis locus maps to chromosome 1q. Roetto, A., Totaro, A., Cazzola, M., Cicilano, M., Bosio, S., D'Ascola, G., Carella, M., Zelante, L., Kelly, A.L., Cox, T.M., Gasparini, P., Camaschella, C. Am. J. Hum. Genet. (1999)
- Three patients with middle-age-onset hemochromatosis caused by novel mutations in the hemojuvelin gene. Koyama, C., Hayashi, H., Wakusawa, S., Ueno, T., Yano, M., Katano, Y., Goto, H., Kidokoro, R. J. Hepatol. (2005)
- Immunophenotypic and genotypic analysis of acquired immunodeficiency syndrome-related non-Hodgkin's lymphomas. Correlation with histologic features in 36 cases. French Study Group of Pathology for HIV-Associated Tumors. Raphael, M.M., Audouin, J., Lamine, M., Delecluse, H.J., Vuillaume, M., Lenoir, G.M., Gisselbrecht, C., Lennert, K., Diebold, J. Am. J. Clin. Pathol. (1994)
- Osteoporosis in HFE2 juvenile hemochromatosis. A case report and review of the literature. Angelopoulos, N.G., Goula, A.K., Papanikolaou, G., Tolis, G. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA. (2006)
- Iron metabolism meets signal transduction. Anderson, G.J., Frazer, D.M. Nat. Genet. (2006)
- Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression. Babitt, J.L., Huang, F.W., Wrighting, D.M., Xia, Y., Sidis, Y., Samad, T.A., Campagna, J.A., Chung, R.T., Schneyer, A.L., Woolf, C.J., Andrews, N.C., Lin, H.Y. Nat. Genet. (2006)
- CH gene rearrangements in IgM-bearing B cells and in the normal splenic DNA component of hybridomas making different isotypes of antibody. Hurwitz, J.L., Coleclough, C., Cebra, J.J. Cell (1980)
- Reversal of cardiac complications by deferiprone and deferoxamine combination therapy in a patient affected by a severe type of juvenile hemochromatosis (JH). Fabio, G., Minonzio, F., Delbini, P., Bianchi, A., Cappellini, M.D. Blood (2007)
- Localization of the iron-regulatory proteins hemojuvelin and transferrin receptor 2 to the basolateral membrane domain of hepatocytes. Merle, U., Theilig, F., Fein, E., Gehrke, S., Kallinowski, B., Riedel, H.D., Bachmann, S., Stremmel, W., Kulaksiz, H. Histochem. Cell Biol. (2007)
- Linkage to chromosome 1q in Greek families with juvenile hemochromatosis. Papanikolaou, G., Politou, M., Roetto, A., Bosio, S., Sakelaropoulos, N., Camaschella, C., Loukopoulos, D. Blood Cells Mol. Dis. (2001)
- Downregulation of hepcidin and haemojuvelin expression in the hepatocyte cell-line HepG2 induced by thalassaemic sera. Weizer-Stern, O., Adamsky, K., Amariglio, N., Levin, C., Koren, A., Breuer, W., Rachmilewitz, E., Breda, L., Rivella, S., Ioav Cabantchik, Z., Rechavi, G. Br. J. Haematol. (2006)
- Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis. Lee, P.L., Barton, J.C., Brandhagen, D., Beutler, E. Br. J. Haematol. (2004)
- Juvenile hemochromatosis. Pietrangelo, A. J. Hepatol. (2006)
- Allele frequencies of hemojuvelin gene (HJV) I222N and G320V missense mutations in white and African American subjects from the general Alabama population. Barton, J.C., Rivers, C.A., Niyongere, S., Bohannon, S.B., Acton, R.T. BMC Med. Genet. (2004)
- Analysis of the human VH gene repertoire. Differential effects of selection and somatic hypermutation on human peripheral CD5(+)/IgM+ and CD5(-)/IgM+ B cells. Brezinschek, H.P., Foster, S.J., Brezinschek, R.I., Dörner, T., Domiati-Saad, R., Lipsky, P.E. J. Clin. Invest. (1997)
- Relationship of the CD5 B cell to human tonsillar lymphocytes that express autoantibody-associated cross-reactive idiotypes. Kipps, T.J., Duffy, S.F. J. Clin. Invest. (1991)
- Hairy cell leukemia associated with large granular lymphocyte leukemia: immunologic and genomic study, effect of interferon treatment. Marolleau, J.P., Henni, T., Gaulard, P., Le Couedic, J.P., Gourdin, M.F., Divine, M., Katz, A., Tulliez, M., Goossens, M., Reyes, F. Blood (1988)
- Repression of Repulsive Guidance Molecule C during Inflammation Is Independent of Hfe and Involves Tumor Necrosis Factor-{alpha}. Constante, M., Wang, D., Raymond, V.A., Bilodeau, M., Santos, M.M. Am. J. Pathol. (2007)
- Variable region primary structures of a high affinity anti-fluorescein immunoglobulin M cryoglobulin exhibiting oxazolone cross-reactivity. Dombrink-Kurtzman, M.A., Johnson, L.S., Riordan, G.S., Bedzyk, W.D., Voss, E.W. J. Biol. Chem. (1989)
- Evidence for regulation of juvenile hormone biosynthesis operating before mevalonate in locust corpora allata. Couillaud, F. Mol. Cell. Endocrinol. (1991)
- Juvenile hemochromatosis associated with pathogenic mutations of adult hemochromatosis genes. Pietrangelo, A., Caleffi, A., Henrion, J., Ferrara, F., Corradini, E., Kulaksiz, H., Stremmel, W., Andreone, P., Garuti, C. Gastroenterology (2005)
- The evaluation of hyperferritinemia: an updated strategy based on advances in detecting genetic abnormalities. Aguilar-Martinez, P., Schved, J.F., Brissot, P. Am. J. Gastroenterol. (2005)
- Hepatic iron metabolism gene expression profiles in HFE associated Hereditary Hemochromatosis. Gleeson, F., Ryan, E., Barrett, S., Russell, J., Crowe, J. Blood Cells Mol. Dis. (2007)
- Neogenin-mediated hemojuvelin shedding occurs after hemojuvelin traffics to the plasma membrane. Zhang, A.S., Yang, F., Meyer, K., Hernandez, C., Chapman-Arvedson, T., Bjorkman, P.J., Enns, C.A. J. Biol. Chem. (2008)
- Frequency and structure of t(14;18) major breakpoint regions in non-Hodgkin's lymphomas typed according to the Kiel classification: analysis by direct DNA sequencing. Kneba, M., Eick, S., Herbst, H., Willigeroth, S., Pott, C., Bolz, I., Bergholz, M., Neumann, C., Stein, H., Krieger, G. Cancer Res. (1991)