메뉴 건너뛰기




Volumn 128, Issue 2, 2005, Pages 470-479

Juvenile hemochromatosis associated with pathogenic mutations of adult hemochromatosis genes

Author keywords

[No Author keywords available]

Indexed keywords

HEPCIDIN; MICROSATELLITE DNA; TRANSFERRIN RECEPTOR; ANTIMICROBIAL CATIONIC PEPTIDE; HFE2 PROTEIN, HUMAN; MEMBRANE PROTEIN;

EID: 14944345916     PISSN: 00165085     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.gastro.2004.11.057     Document Type: Article
Times cited : (128)

References (27)
  • 1
    • 9344224529 scopus 로고    scopus 로고
    • A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
    • J.N. Feder, A. Gnirke, W. Thomas A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis Nat Genet 13 1996 399 408
    • (1996) Nat Genet , vol.13 , pp. 399-408
    • Feder, J.N.1    Gnirke, A.2    Thomas, W.3
  • 2
    • 0034022636 scopus 로고    scopus 로고
    • The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
    • C. Camaschella, A. Roetto, A. Cali The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22 Nat Genet 25 2000 14 15
    • (2000) Nat Genet , vol.25 , pp. 14-15
    • Camaschella, C.1    Roetto, A.2    Cali, A.3
  • 3
    • 0018427678 scopus 로고
    • Idiopathic hemochromatosis in a young female. A case study and review of the syndrome in young people
    • J.M. Lamon, S.P. Marynick, R. Roseblatt, S. Donnelly Idiopathic hemochromatosis in a young female. A case study and review of the syndrome in young people Gastroenterology 76 1979 178 183
    • (1979) Gastroenterology , vol.76 , pp. 178-183
    • Lamon, J.M.1    Marynick, S.P.2    Roseblatt, R.3    Donnelly, S.4
  • 4
    • 0034144525 scopus 로고    scopus 로고
    • Clinical and molecular aspects of juvenile hemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, Canada)
    • S.R. Rivard, C. Mura, H. Simard Clinical and molecular aspects of juvenile hemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, Canada) Blood Cells Mol Dis 26 2000 10 14
    • (2000) Blood Cells Mol Dis , vol.26 , pp. 10-14
    • Rivard, S.R.1    Mura, C.2    Simard, H.3
  • 5
    • 0036075097 scopus 로고    scopus 로고
    • Natural history of juvenile haemochromatosis
    • M. De Gobbi, A. Roetto, A. Piperno Natural history of juvenile haemochromatosis Br J Haematol 117 2002 973 979
    • (2002) Br J Haematol , vol.117 , pp. 973-979
    • De Gobbi, M.1    Roetto, A.2    Piperno, A.3
  • 6
    • 0033358675 scopus 로고    scopus 로고
    • Juvenile hemochromatosis locus maps to chromosome 1q
    • A. Roetto, A. Totaro, M. Cazzola Juvenile hemochromatosis locus maps to chromosome 1q Am J Hum Genet 64 1999 1388 1393
    • (1999) Am J Hum Genet , vol.64 , pp. 1388-1393
    • Roetto, A.1    Totaro, A.2    Cazzola, M.3
  • 7
    • 9144252017 scopus 로고    scopus 로고
    • Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis
    • G. Papanikolaou, M.E. Samuels, E.H. Ludwig Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis Nat Genetics 36 2004 77 82
    • (2004) Nat Genetics , vol.36 , pp. 77-82
    • Papanikolaou, G.1    Samuels, M.E.2    Ludwig, E.H.3
  • 8
    • 20244388240 scopus 로고    scopus 로고
    • Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis
    • A. Roetto, G. Papanikolaou, M. Politou Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis Nat Genet 33 2003 21 22
    • (2003) Nat Genet , vol.33 , pp. 21-22
    • Roetto, A.1    Papanikolaou, G.2    Politou, M.3
  • 9
    • 2342422913 scopus 로고    scopus 로고
    • Pro-hepcidin: Expression and cell specific localisation in the liver and its regulation in hereditary haemochromatosis, chronic renal insufficiency, and renal anaemia
    • H. Kulaksiz, S.G. Gehrke, A. Janetzko Pro-hepcidin expression and cell specific localisation in the liver and its regulation in hereditary haemochromatosis, chronic renal insufficiency, and renal anaemia Gut 53 2004 735 743
    • (2004) Gut , vol.53 , pp. 735-743
    • Kulaksiz, H.1    Gehrke, S.G.2    Janetzko, A.3
  • 10
    • 2442715055 scopus 로고    scopus 로고
    • A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis
    • M. Delatycki, K. Allen, P. Gow A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis Clin Genet 65 2004 378 383
    • (2004) Clin Genet , vol.65 , pp. 378-383
    • Delatycki, M.1    Allen, K.2    Gow, P.3
  • 11
    • 2542468736 scopus 로고    scopus 로고
    • The spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis
    • C. Lanzara, A. Roetto, F. Daraio The spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis Blood 103 2004 4317 4321
    • (2004) Blood , vol.103 , pp. 4317-4321
    • Lanzara, C.1    Roetto, A.2    Daraio, F.3
  • 12
    • 2942619988 scopus 로고    scopus 로고
    • Genetic abnormalities and juvenile hemochromatosis: Mutations of the HJV gene encoding hemojuvelin
    • P.L. Lee, E. Beutler, S.V. Rao, J.C. Barton Genetic abnormalities and juvenile hemochromatosis mutations of the HJV gene encoding hemojuvelin Blood 103 2004 4669 4671
    • (2004) Blood , vol.103 , pp. 4669-4671
    • Lee, P.L.1    Beutler, E.2    Rao, S.V.3    Barton, J.C.4
  • 13
    • 0036242163 scopus 로고    scopus 로고
    • Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene
    • D. Girelli, C. Bozzini, A. Roetto Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene Gastroenterology 122 2002 1295 1302
    • (2002) Gastroenterology , vol.122 , pp. 1295-1302
    • Girelli, D.1    Bozzini, C.2    Roetto, A.3
  • 14
    • 0036177909 scopus 로고    scopus 로고
    • A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation
    • P.A. Gochee, L.W. Powell, D.J. Cullen, D. Du Sart, E. Rossi, J.K. Olynyk A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation Gastroenterology 122 2002 646 651
    • (2002) Gastroenterology , vol.122 , pp. 646-651
    • Gochee, P.A.1    Powell, L.W.2    Cullen, D.J.3    Du Sart, D.4    Rossi, E.5    Olynyk, J.K.6
  • 15
    • 18344401294 scopus 로고    scopus 로고
    • Multicentric origin of hemochromatosis gene (HFE) mutations
    • J. Rochette, J.J. Pointon, C.A. Fisher Multicentric origin of hemochromatosis gene (HFE) mutations (published erratum appears in Am J Hum Genet 1999;64:1491) Am J Hum Genet 64 1999 1056 1062
    • (1999) Am J Hum Genet , vol.64 , pp. 1056-1062
    • Rochette, J.1    Pointon, J.J.2    Fisher, C.A.3
  • 16
    • 0037564038 scopus 로고    scopus 로고
    • Expression of hepcidin in hereditary hemochromatosis: Evidence for a regulation in response to serum transferrin saturation and non-transferrin-bound iron
    • S.G. Gehrke, H. Kulaksiz, T. Herrmann Expression of hepcidin in hereditary hemochromatosis evidence for a regulation in response to serum transferrin saturation and non-transferrin-bound iron Blood 102 2003 371 376
    • (2003) Blood , vol.102 , pp. 371-376
    • Gehrke, S.G.1    Kulaksiz, H.2    Herrmann, T.3
  • 17
    • 0038662619 scopus 로고    scopus 로고
    • Hepcidin, a putative mediator of anemia of inflammation, is a type II acute-phase protein
    • E. Nemeth, E.V. Valore, M. Territo, G. Schiller, A. Lichtenstein, T. Ganz Hepcidin, a putative mediator of anemia of inflammation, is a type II acute-phase protein Blood 101 2003 2461 2463
    • (2003) Blood , vol.101 , pp. 2461-2463
    • Nemeth, E.1    Valore, E.V.2    Territo, M.3    Schiller, G.4    Lichtenstein, A.5    Ganz, T.6
  • 18
    • 0037460697 scopus 로고    scopus 로고
    • Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homoeostasis
    • K.R. Bridle, D.M. Frazer, S.J. Wilkins Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homoeostasis Lancet 361 2003 669 673
    • (2003) Lancet , vol.361 , pp. 669-673
    • Bridle, K.R.1    Frazer, D.M.2    Wilkins, S.J.3
  • 19
    • 0036787307 scopus 로고    scopus 로고
    • Beyond Mendel: An evolving view of human genetic disease transmission
    • J.L. Badano, N. Katsanis Beyond Mendel an evolving view of human genetic disease transmission Nat Rev Genet 3 2002 779 789
    • (2002) Nat Rev Genet , vol.3 , pp. 779-789
    • Badano, J.L.1    Katsanis, N.2
  • 20
    • 0038744241 scopus 로고    scopus 로고
    • Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome
    • P.L. Beales, J.L. Badano, A.J. Ross Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome Am J Hum Genet 72 2003 1187 1199
    • (2003) Am J Hum Genet , vol.72 , pp. 1187-1199
    • Beales, P.L.1    Badano, J.L.2    Ross, A.J.3
  • 21
    • 10744225120 scopus 로고    scopus 로고
    • Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis
    • A.T. Merryweather-Clarke, E. Cadet, A. Bomford Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis Hum Mol Genet 12 2003 2241 2247
    • (2003) Hum Mol Genet , vol.12 , pp. 2241-2247
    • Merryweather-Clarke, A.T.1    Cadet, E.2    Bomford, A.3
  • 22
    • 1642367900 scopus 로고    scopus 로고
    • HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype
    • S. Jacolot, G. Le Gac, V. Scotet, I. Quere, C. Mura, C. Ferec HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype Blood 103 2004 2835 2840
    • (2004) Blood , vol.103 , pp. 2835-2840
    • Jacolot, S.1    Le Gac, G.2    Scotet, V.3    Quere, I.4    Mura, C.5    Ferec, C.6
  • 23
    • 4544314123 scopus 로고    scopus 로고
    • The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype
    • G. Le Gac, V. Scotet, C. Ka The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype Hum Mol Genet 13 2004 1913 1918
    • (2004) Hum Mol Genet , vol.13 , pp. 1913-1918
    • Le Gac, G.1    Scotet, V.2    Ka, C.3
  • 24
    • 0035206994 scopus 로고    scopus 로고
    • A study of genes that may modulate the expression of hereditary hemochromatosis: Transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin
    • P.L. Lee, T. Gelbart, C. West, C. Halloran, V. Felitti, E. Beutler A study of genes that may modulate the expression of hereditary hemochromatosis transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin Blood Cells Mol Dis 27 2001 783 802
    • (2001) Blood Cells Mol Dis , vol.27 , pp. 783-802
    • Lee, P.L.1    Gelbart, T.2    West, C.3    Halloran, C.4    Felitti, V.5    Beutler, E.6
  • 27
    • 2542560427 scopus 로고    scopus 로고
    • Hereditary hemochromatosis. A new look at an old disease
    • A. Pietrangelo Hereditary hemochromatosis. A new look at an old disease N Engl J Med 350 2004 2383 2387
    • (2004) N Engl J Med , vol.350 , pp. 2383-2387
    • Pietrangelo, A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.