Haemochromatosis and HLA–H

A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

Feder, J. N., Gnirke, A., Thomas, W., Tsuchihashi, Z., Ruddy, D. A., Basava, A., Dormishian, F., Domingo, R., Ellis, M. C., Fullan, A., et al. (1996) · Nature Genetics · doi:10.1038/ng0896-399 · Cited by 3,664 · see citing works

Hereditary Hemochromatosis

Cartwright, G. E., Edwards, C. Q., Kravitz, K., Skolnick, M. H., Amos, D. B., Johnson, A. H., & Buskjaer, L. (1979) · New England Journal of Medicine · doi:10.1056/nejm197907263010402 · Cited by 301 · see citing works

Idiopathic hemochromatosis: A study of biochemical expression in 247 heterozygous members of 63 families: Evidence for a single major HLA-linked gene

Simon, M., Fauchet, R., Hespel, J.-P., Beaumont, C., Brissot, P., Hery, B., Hita de Nercy, Y., GENETET, B., & Bourel, M. (1980) · Gastroenterology · doi:10.1016/0016-5085(80)90671-x · Cited by 58 · see citing works

Alleles at D6S265 and D6S105 define a haemochromatosis‐specific genotype

Worwood, M., Raha‐Chowdhury, R., Dorak, M. T., et al. (1994) · British Journal of Haematology · doi:10.1111/j.1365-2141.1994.tb04843.x · Cited by 49 · see citing works

Linkage disequilibrium and extended haplotypes in the HLA-A to D6S105 region: implications for mapping the hemochromatosis gene (HFE)

Gandon, G., Jouanolle, A. M., Chauvel, B., Mauvieux, V., Treut, A. L., Feingold, J., Gall, J. Y. L., David, V., & Yaouanq, J. (1996) · Human Genetics · doi:10.1007/bf00218843 · Cited by 29 · see citing works

A 4.5-Megabase YAC Contig and Physical Map over the Hemochromatosis Gene Region

Burt, M. J., Smit, D. J., Pyper, W. R., et al. (1996) · Genomics · doi:10.1006/geno.1996.0178 · Cited by 28 · see citing works

Is All Genetic (Hereditary) Hemochromatosis HLA‐Associateda

Powell, L. W., Bassett, M. L., Axelsen, E., et al. (1988) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.1988.tb55489.x · Cited by 25 · see citing works

Prenatal diagnosis and screening. D.J.H. Brock, C.H. Rodeck, and M.A. Ferguson‐Smith, Eds. Churchill Livingstone, Inc., London, 1992. $169.95

Toriello, H. V. (1995) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320560418 · Cited by 20 · see citing works

Allelic association of microsatellites of 6p in Italian hemochromatosis patients

Camaschella, C., Roetto, A., Gasparini, P., et al. (1996) · Human Genetics · doi:10.1007/bf02267070 · Cited by 20 · see citing works

Localization of the Hemochromatosis Disease Gene: Linkage Disequilibrium Analysis Using an American Patient Collection

Seese, N. K., Venditti, C. P., Chorney, K. A., et al. (1996) · Blood Cells Molecules and Diseases · doi:10.1006/bcmd.1996.0006 · Cited by 17 · see citing works

Haemochromatosis: Strike while the iron is hot

Cox, T. M. (1996) · Nature Genetics · doi:10.1038/ng0896-386 · Cited by 15 · see citing works

Haemochromatosis …definite maybe!

(1996) · Nature Genetics · doi:10.1038/ng0896-375 · Cited by 5 · see citing works

The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding

Feder, J. N., Penny, D. M., Irrinki, A., Lee, V. K., Lebrón, J. A., Watson, N., Tsuchihashi, Z., Sigal, E., Bjorkman, P. J., & Schatzman, R. C. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.4.1472 · Cited by 827 · see citing works

Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA

Beutler, E., Felitti, V. J., Koziol, J. A., Ho, N. J., & Gelbart, T. (2002) · The Lancet · doi:10.1016/s0140-6736(02)07447-0 · Cited by 823 · see citing works

The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22

Camaschella, C., Roetto, A., Calì, A., De Gobbi, M., Garozzo, G., Carella, M., Majorano, N., Totaro, A., & Gasparini, P. (2000) · Nature Genetics · doi:10.1038/75534 · Cited by 803 · see citing works

Intracellular iron transport and storage: from molecular mechanisms to health implications

Mackenzie, E. L., Iwasaki, K., & Tsuji, Y. (2008) · Antioxidants & Redox Signaling · doi:10.1089/ars.2007.1893 · Cited by 526 · see citing works

Hereditary hemochromatosis: Effects of C282Y and H63D mutations on association with β ₂ -microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells

Waheed, A., Parkkila, S., Zhou, X. Y., Tomatsu, S., Tsuchihashi, Z., Feder, J. N., Schatzman, R. C., Britton, R. S., Bacon, B. R., & Sly, W. S. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.23.12384 · Cited by 380 · see citing works

Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis

Parkkila, S., Waheed, A., Britton, R. S., Bacon, B. R., Zhou, X. Y., Tomatsu, S., Fleming, R. E., & Sly, W. S. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.24.13198 · Cited by 336 · see citing works

Expression of the duodenal iron transporters divalent-metal transporter 1 and ferroportin 1 in iron deficiency and iron overload

Zoller, H., Weiss, G., Theurl, I., Koch, R. O., Vogel, W., Obrist, P., Pietrangelo, A., Montosi, G., & Haile, D. J. (2001) · Gastroenterology · doi:10.1053/gast.2001.24033 · Cited by 304 · see citing works

Cancer risk in patients with hereditary hemochromatosis and in their first-degree relatives

Elmberg, M., Hultcrantz, R., Ekbom, A., Brandt, L., Olsson, S., Olsson, R., Lindgren, S., Lööf, L., Stål, P., Wallerstedt, S., et al. (2003) · Gastroenterology · doi:10.1053/j.gastro.2003.09.035 · Cited by 273 · see citing works

Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum

Waheed, A., Parkkila, S., Saarnio, J., Fleming, R. E., Zhou, X. Y., Tomatsu, S., Britton, R. S., Bacon, B. R., & Sly, W. S. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.4.1579 · Cited by 243 · see citing works

Heterogeneity of hemochromatosis in Italy

Piperno, A., Sampietro, M., Pietrangelo, A., Arosio, C., Lupica, L., Montosi, G., Vergani, A., Fraquelli, M., Girelli, D., & Pasquero, P. (1998) · Gastroenterology · doi:10.1016/s0016-5085(98)70319-1 · Cited by 235 · see citing works

Duodenal metal-transporter (DMT-1, NRAMP-2) expression in patients with hereditary haemochromatosis

Zoller, H., Pietrangelo, A., Vogel, W., & Weiss, G. (1999) · The Lancet · doi:10.1016/s0140-6736(98)11179-0 · Cited by 167 · see citing works

Heterozygosity for the C282Y mutation in the hemochromatosis gene is associated with increased serum iron, transferrin saturation, and hemoglobin in young women: a protective role against iron deficiency?

Datz, C., Haas, T., Rinner, H., Sandhofer, F., Patsch, W., & Paulweber, B. (1998) · Clinical Chemistry · doi:10.1093/clinchem/44.12.2429 · Cited by 119 · see citing works

Molecular pathogenesis of iron overload

Trinder, D., Fox, C., Vautier, G., & Olynyk, J. K. (2002) · Gut · doi:10.1136/gut.51.2.290 · Cited by 93 · see citing works

Duodenal expression of iron transport molecules in untreated haemochromatosis subjects

Stuart, K. A., Anderson, G. J., Frazer, D. M., Powell, L. W., McCullen, M., Fletcher, L. M., & Crawford, D. H. G. (2003) · Gut · doi:10.1136/gut.52.7.953 · Cited by 61 · see citing works

Genetic haemochromatosis: genes and mutations associated with iron loading

Camaschella, C. (2002) · Best Practice & Research Clinical Haematology · doi:10.1016/s1521-6926(02)90207-0 · Cited by 52 · see citing works

Analysis of haemochromatosis gene mutations in a population from the Mediterranean Basin

Campo, S., Restuccia, T., Villari, D., Raffa, G., Cucinotta, D., Squadrito, G., Pollicino, T., & Raimondo, G. (2001) · Liver · doi:10.1034/j.1600-0676.2001.021004233.x · Cited by 36 · see citing works

C282Y mutation and hepatic iron status in hepatitis C and cryptogenic cirrhosis

Lal, P., Fernandes, H., Koneru, B., Albanese, E., & Hameed, M. (2000) · Archives of Pathology & Laboratory Medicine · doi:10.5858/2000-124-1632-cmahis · Cited by 14 · see citing works

HLA—Determination in Families with Hereditary Ataxia

Möller, E., Hindfelt, B., & Olsson, J. (1978) · Tissue Antigens · doi:10.1111/j.1399-0039.1978.tb01345.x · Cited by 26 · see citing works

Genetic variants of TREML2 are associated with HLA-B27-positive ankylosing spondylitis

Feng, Y., Hong, Y., Zhang, X., Cao, C., Yang, X., Lai, S., Fan, C., Cheng, F., Yan, M., Li, C., et al. (2018) · Gene · doi:10.1016/j.gene.2018.05.057 · Cited by 9 · see citing works

The Major Histocompatibility Complex (HLA) as a Genetic Marker in Human Craniofacial Anomalies

Rapaport, F. T., Bach, F. H., BACHVAROFF, R. J., et al. (1979) · Tissue Antigens · doi:10.1111/j.1399-0039.1979.tb00869.x · Cited by 20 · see citing works

Genetics of type 1 diabetes mellitus

Pociot, F., & McDermott, M. (2002) · Genes and Immunity · doi:10.1038/sj.gene.6363875 · Cited by 356 · see citing works

Analysis of HLA and disease susceptibility: chromosome 6 genes and sex influence long-QT phenotype.

Lr, W., Moss, A. J., Lewis, R. A., Hall, W. J., MacCluer, J. W., Pj, S., Locati, E. H., Tzivoni, D., Vincent, G. M., & Jl, R. (1994) · PubMed Central · Cited by 11 · see citing works