-
1
-
-
0030864560
-
Clinical and family studies in genetic hemochromatosis: Microsatellite and HFE studies in five atypical families
-
Adams PC, Campion ML, Gandon G, Le Gall J-Y, David V, Jouanolle A-M (1997) Clinical and family studies in genetic hemochromatosis: microsatellite and HFE studies in five atypical families. Hepatology 26:986-990
-
(1997)
Hepatology
, vol.26
, pp. 986-990
-
-
Adams, P.C.1
Campion, M.L.2
Gandon, G.3
Le Gall, J.-Y.4
David, V.5
Jouanolle, A.-M.6
-
2
-
-
0030957346
-
Hereditary hemochromatosis: Presentation and diagnosis in the 1990s
-
Bacon BR, Sadiq SA (1997) Hereditary hemochromatosis: presentation and diagnosis in the 1990s. Am J Gastroenterol 92:784-789
-
(1997)
Am. J. Gastroenterol.
, vol.92
, pp. 784-789
-
-
Bacon, B.R.1
Sadiq, S.A.2
-
3
-
-
0031214035
-
New diallelic markers in the HLA region of chromosome 6
-
Beutler E, West C (1997) New diallelic markers in the HLA region of chromosome 6. Blood Cells Mol Dis 23:219-229
-
(1997)
Blood Cells Mol. Dis.
, vol.23
, pp. 219-229
-
-
Beutler, E.1
West, C.2
-
4
-
-
2442750413
-
Specific polymorphisms in the RET protooncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression
-
Borrego S, Saez ME, Ruiz A, Gimm O, Lopez-Alonso M, Antinolo G, Eng C (1999) Specific polymorphisms in the RET protooncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression. J Med Genet 36:771-774
-
(1999)
J. Med. Genet.
, vol.36
, pp. 771-774
-
-
Borrego, S.1
Saez, M.E.2
Ruiz, A.3
Gimm, O.4
Lopez-Alonso, M.5
Antinolo, G.6
Eng, C.7
-
5
-
-
0000702937
-
Hemochromatosis
-
Scriver CR, Scriver AL, Sly WS, Valle D (eds) 7th edn. McGraw-Hill, New York
-
Bothwell TH, Charlton RW, Motulsky AG (1995) Hemochromatosis. In: Scriver CR, Scriver AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited disease, 7th edn. McGraw-Hill, New York, pp 2237-2269
-
(1995)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 2237-2269
-
-
Bothwell, T.H.1
Charlton, R.W.2
Motulsky, A.G.3
-
6
-
-
0019363396
-
Organisation and expression of eukaryotic split genes coding for proteins
-
Breathnach R, Chambon P (1981) Organisation and expression of eukaryotic split genes coding for proteins. Annu Rev Biochem 50:349-383
-
(1981)
Annu. Rev. Biochem.
, vol.50
, pp. 349-383
-
-
Breathnach, R.1
Chambon, P.2
-
7
-
-
0028077730
-
Regulation of alternative splicing in vivo by overexpression of antagonistic splicing factors
-
Caceres JF, Stamm S, Helfman DM, Krainer AR (1994) Regulation of alternative splicing in vivo by overexpression of antagonistic splicing factors. Science 265:1706-1709
-
(1994)
Science
, vol.265
, pp. 1706-1709
-
-
Caceres, J.F.1
Stamm, S.2
Helfman, D.M.3
Krainer, A.R.4
-
8
-
-
0034022636
-
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
-
Camaschella C, Roetto A, Cali A, De Gobbi M, Garozzo G, Carella M, Majorano N, Totaro A, Gasparini P (2000) The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. Nat Genet 25:14-15
-
(2000)
Nat. Genet.
, vol.25
, pp. 14-15
-
-
Camaschella, C.1
Roetto, A.2
Cali, A.3
De Gobbi, M.4
Garozzo, G.5
Carella, M.6
Majorano, N.7
Totaro, A.8
Gasparini, P.9
-
9
-
-
0033358728
-
Sequence diversity in 36 candidate genes for cardiovascular disorders
-
Cambien F, Poirier O, Nicaud V, Herrmann SM, Mallet C, Ricard S, Behague I, Hallet V, Blanc H, Loukaci V, Thillet J, Evans A, Ruidavets JB, Arveiler D, Luc G, Tiret L (1999) Sequence diversity in 36 candidate genes for cardiovascular disorders. Am J Hum Genet 65:183-191
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 183-191
-
-
Cambien, F.1
Poirier, O.2
Nicaud, V.3
Herrmann, S.M.4
Mallet, C.5
Ricard, S.6
Behague, I.7
Hallet, V.8
Blanc, H.9
Loukaci, V.10
Thillet, J.11
Evans, A.12
Ruidavets, J.B.13
Arveiler, D.14
Luc, G.15
Tiret, L.16
-
10
-
-
0032991552
-
Characterisation of single-nucleotide polymorphisms in coding regions of human genes
-
Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP, Kalyanaraman N, Nemesh J, Ziaugra L, Friedland L, Rolfe A, Warrington J, Lipshutz R, Daley GQ, Lander ES (1999) Characterisation of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet 22:231-238
-
(1999)
Nat. Genet.
, vol.22
, pp. 231-238
-
-
Cargill, M.1
Altshuler, D.2
Ireland, J.3
Sklar, P.4
Ardlie, K.5
Patil, N.6
Shaw, N.7
Lane, C.R.8
Lim, E.P.9
Kalyanaraman, N.10
Nemesh, J.11
Ziaugra, L.12
Friedland, L.13
Rolfe, A.14
Warrington, J.15
Lipshutz, R.16
Daley, G.Q.17
Lander, E.S.18
-
11
-
-
0036207384
-
Listening to silence and understanding nonsense: Exonic mutations that affect splicing
-
Cartegni L, Chew SL, Krainer AR (2002) Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev 3:285-298
-
(2002)
Nat. Rev.
, vol.3
, pp. 285-298
-
-
Cartegni, L.1
Chew, S.L.2
Krainer, A.R.3
-
12
-
-
18744400781
-
Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3)
-
Cazzola M, Cremonesi L, Papaioannou M, Soriani N, Kioumi A, Charalambidou A, Paroni R, Romtsou K, Levi S, Ferrari M, Arosio P, Christakis J (2002) Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3). Br J Haematol 119:539-546
-
(2002)
Br. J. Haematol.
, vol.119
, pp. 539-546
-
-
Cazzola, M.1
Cremonesi, L.2
Papaioannou, M.3
Soriani, N.4
Kioumi, A.5
Charalambidou, A.6
Paroni, R.7
Romtsou, K.8
Levi, S.9
Ferrari, M.10
Arosio, P.11
Christakis, J.12
-
13
-
-
0032815881
-
Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria
-
De Villiers JN, Hillermann R, Loubser L, Kotze MJ (1999) Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria. Hum Mol Genet 8:1517-1522
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1517-1522
-
-
De Villiers, J.N.1
Hillermann, R.2
Loubser, L.3
Kotze, M.J.4
-
14
-
-
0037100382
-
Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3)
-
Devalia V, Carter K, Walker AP, Perkins SJ, Worwood M, May A, Dooley JS (2002) Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3). Blood 100:695-697
-
(2002)
Blood
, vol.100
, pp. 695-697
-
-
Devalia, V.1
Carter, K.2
Walker, A.P.3
Perkins, S.J.4
Worwood, M.5
May, A.6
Dooley, J.S.7
-
15
-
-
0035160216
-
Identification of 96 single nucleotide polymorphisms in eight genes involved in iron metabolism: Efficiency of bioinformatic extraction compared with a systematic sequencing approach
-
Douabin-Gicquel V, Soriano N, Ferran H, Wojcik F, Palierne E, Tamim S, Jovelin T, McKie AT, Le Gall JY, David V, Mosser J (2001) Identification of 96 single nucleotide polymorphisms in eight genes involved in iron metabolism: efficiency of bioinformatic extraction compared with a systematic sequencing approach. Hum Genet 109:393-401
-
(2001)
Hum. Genet.
, vol.109
, pp. 393-401
-
-
Douabin-Gicquel, V.1
Soriano, N.2
Ferran, H.3
Wojcik, F.4
Palierne, E.5
Tamim, S.6
Jovelin, T.7
McKie, A.T.8
Le Gall, J.Y.9
David, V.10
Mosser, J.11
-
16
-
-
9344224529
-
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
-
Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, Domingo R Jr, Ellis MC, Fullan A, Hinton LM, Jones NL, Kimmel BE, Kronmal GS, Lauer P, Lee VK, Loeb DB, Mapa FA, McClelland E, Meyer NC, Mintier GA, Moeller N, Moore T, Morikang E, Wolff RK (1996) A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 13:399-408
-
(1996)
Nat. Genet.
, vol.13
, pp. 399-408
-
-
Feder, J.N.1
Gnirke, A.2
Thomas, W.3
Tsuchihashi, Z.4
Ruddy, D.A.5
Basava, A.6
Dormishian, F.7
Domingo Jr., R.8
Ellis, M.C.9
Fullan, A.10
Hinton, L.M.11
Jones, N.L.12
Kimmel, B.E.13
Kronmal, G.S.14
Lauer, P.15
Lee, V.K.16
Loeb, D.B.17
Mapa, F.A.18
McClelland, E.19
Meyer, N.C.20
Mintier, G.A.21
Moeller, N.22
Moore, T.23
Morikang, E.24
Wolff, R.K.25
more..
-
17
-
-
0033357992
-
Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease
-
Fitze G, Schreiber M, Kuhlisch E, Schackert HK, Roesner D (1999) Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease. Am J Hum Genet 65:1469-1473
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 1469-1473
-
-
Fitze, G.1
Schreiber, M.2
Kuhlisch, E.3
Schackert, H.K.4
Roesner, D.5
-
18
-
-
10744232713
-
Iron overload in Africans and African-Americans and a common mutation in the SLC40A1 (ferroportin 1) gene
-
Gordeuk VR, Caleffi A, Corradini E, Ferrara F, Jones RA, Castro O, Onyekwere O, Kittles R, Pignatti E, Montosi G, Garuti C, Gangaidzo IT, Gomo ZAR, Moyo VM, Rouault TA, Macphail P, Pietrangelo A (2003) Iron overload in Africans and African-Americans and a common mutation in the SLC40A1 (ferroportin 1) gene. Blood Cell Mol Dis 31:299-304
-
(2003)
Blood Cell Mol. Dis.
, vol.31
, pp. 299-304
-
-
Gordeuk, V.R.1
Caleffi, A.2
Corradini, E.3
Ferrara, F.4
Jones, R.A.5
Castro, O.6
Onyekwere, O.7
Kittles, R.8
Pignatti, E.9
Montosi, G.10
Garuti, C.11
Gangaidzo, I.T.12
Gomo, Z.A.R.13
Moyo, V.M.14
Rouault, T.A.15
Macphail, P.16
Pietrangelo, A.17
-
19
-
-
0002392433
-
HLA-H gene mutations and haemochromatosis: The likely association of H63D with mild phenotype and the detection of S65C, a novel variant in exon 2
-
Henz S, Reichen J, Liechti-Gallati S (1997) HLA-H gene mutations and haemochromatosis: the likely association of H63D with mild phenotype and the detection of S65C, a novel variant in exon 2. J Hepatol 26:57
-
(1997)
J. Hepatol.
, vol.26
, pp. 57
-
-
Henz, S.1
Reichen, J.2
Liechti-Gallati, S.3
-
20
-
-
0037860450
-
Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11a3) mutations
-
Hetet G, Devaux I, Soufir N, Grandchamp B, Beaumont C (2003) Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11a3) mutations. Blood 102:1904-1910
-
(2003)
Blood
, vol.102
, pp. 1904-1910
-
-
Hetet, G.1
Devaux, I.2
Soufir, N.3
Grandchamp, B.4
Beaumont, C.5
-
22
-
-
10744219904
-
Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload
-
Jouanolle AM, Douabin-Gicquel V, Halimi C, Loreal O, Fergelot P, Delacour T, Lajarte-Thirouard AS de, Turlin B, Le Gall JY, Cadet E, Rochette J, David V, Brissot P (2003) Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload. J Hepatol 39:286-289
-
(2003)
J. Hepatol.
, vol.39
, pp. 286-289
-
-
Jouanolle, A.M.1
Douabin-Gicquel, V.2
Halimi, C.3
Loreal, O.4
Fergelot, P.5
Delacour, T.6
de Lajarte-Thirouard, A.S.7
Turlin, B.8
Le Gall, J.Y.9
Cadet, E.10
Rochette, J.11
David, V.12
Brissot, P.13
-
23
-
-
1842581844
-
Molecular diagnosis of hereditary hemochromatosis: Application of a newly-developed reverse-hybridization assay in the South African population
-
Kotze MJ, Villiers JNP de, Bouwens CSH, Warnich L, Zaahl MG, Merwe S van der, Oberkanins C (2004) Molecular diagnosis of hereditary hemochromatosis: application of a newly-developed reverse-hybridization assay in the South African population. Clin Genet 65:317-321
-
(2004)
Clin. Genet.
, vol.65
, pp. 317-321
-
-
Kotze, M.J.1
de Villiers, J.N.P.2
Bouwens, C.S.H.3
Warnich, L.4
Zaahl, M.G.5
van der Merwe, S.6
Oberkanins, C.7
-
24
-
-
0034284595
-
LEAP-1, a novel highly disulfide-bonded human peptide, exhibits antimicrobial activity
-
Krause A, Neitz S, Magert HJ, Schulz A, Forssmann WG, Schulz-Knappe P, Adermann K (2000) LEAP-1, a novel highly disulfide-bonded human peptide, exhibits antimicrobial activity. FEBS Lett 480:147-150
-
(2000)
FEBS Lett.
, vol.480
, pp. 147-150
-
-
Krause, A.1
Neitz, S.2
Magert, H.J.3
Schulz, A.4
Forssmann, W.G.5
Schulz-Knappe, P.6
Adermann, K.7
-
25
-
-
0026794668
-
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
-
Krawczak M, Reiss J, Cooper DN (1992) The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90:41-54
-
(1992)
Hum. Genet.
, vol.90
, pp. 41-54
-
-
Krawczak, M.1
Reiss, J.2
Cooper, D.N.3
-
26
-
-
0035206994
-
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
-
Lee PL, Gelbart T, West C, Halloran C, Felitti V, Beutler E (2001) 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 27:783-802
-
(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
-
-
0035793856
-
An iron-regulated ferric reductase associated with the absorption of dietary iron
-
McKie AT, Barrow D, Latunde-Dada GO, Rolfs A, Sager G, Mudaly E, Mudaly M, Richardson C, Barlow D, Bomford A, Peters TJ, Raja KB, Shirali S, Hediger MA, Farzaneh F, Simpson RJ (2001) An iron-regulated ferric reductase associated with the absorption of dietary iron. Science 291:1755-1759
-
(2001)
Science
, vol.291
, pp. 1755-1759
-
-
McKie, A.T.1
Barrow, D.2
Latunde-Dada, G.O.3
Rolfs, A.4
Sager, G.5
Mudaly, E.6
Mudaly, M.7
Richardson, C.8
Barlow, D.9
Bomford, A.10
Peters, T.J.11
Raja, K.B.12
Shirali, S.13
Hediger, M.A.14
Farzaneh, F.15
Simpson, R.J.16
-
28
-
-
0036669942
-
Molecular evidence for the role of a ferric reductase in iron transport
-
McKie AT, Latunde-Dada GO, Miret S, McGregor JA, Anderson GJ, Vulpe CD, Wrigglesworth JM, Simpson RJ (2002) Molecular evidence for the role of a ferric reductase in iron transport. Biochem Soc Trans 30:722-724
-
(2002)
Biochem. Soc. Trans.
, vol.30
, pp. 722-724
-
-
McKie, A.T.1
Latunde-Dada, G.O.2
Miret, S.3
McGregor, J.A.4
Anderson, G.J.5
Vulpe, C.D.6
Wrigglesworth, J.M.7
Simpson, R.J.8
-
29
-
-
10744225120
-
Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis
-
Merryweather-Clarke AT, Cadet E, Bomford A, Capron D, Viprakasit V, Miller A, McHugh PJ, Chapman RW, Pointon JJ, Wimhurst VLC, Livesey KJ, Tanphaichitr V, Rochette J, Robson KJH (2003) Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. Hum Mol Genet 12:2241-2247
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 2241-2247
-
-
Merryweather-Clarke, A.T.1
Cadet, E.2
Bomford, A.3
Capron, D.4
Viprakasit, V.5
Miller, A.6
McHugh, P.J.7
Chapman, R.W.8
Pointon, J.J.9
Wimhurst, V.L.C.10
Livesey, K.J.11
Tanphaichitr, V.12
Rochette, J.13
Robson, K.J.H.14
-
30
-
-
0032906563
-
Molecular diagnosis of hereditary haemochromatosis-identify an affected person and save a family
-
Milani MY, Kotze MJ (1999) Molecular diagnosis of hereditary haemochromatosis-identify an affected person and save a family. S Afr Med J 89:263-264
-
(1999)
S. Afr. Med. J.
, vol.89
, pp. 263-264
-
-
Milani, M.Y.1
Kotze, M.J.2
-
31
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller S, Dykes D, Polesky H (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
-
(1988)
Nucleic Acids Res.
, vol.16
, pp. 1215
-
-
Miller, S.1
Dykes, D.2
Polesky, H.3
-
32
-
-
17944380796
-
Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene
-
Montosi G, Donovan A, Totaro A, Garuti C, Pignatti E, Cassanelli S, Trenor CC, Gasparini P, Andrews NC, Pietrangelo A (2001) Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. J Clin Invest 108:619-623
-
(2001)
J. Clin. Invest.
, vol.108
, pp. 619-623
-
-
Montosi, G.1
Donovan, A.2
Totaro, A.3
Garuti, C.4
Pignatti, E.5
Cassanelli, S.6
Trenor, C.C.7
Gasparini, P.8
Andrews, N.C.9
Pietrangelo, A.10
-
33
-
-
0020050314
-
A catalogue of splice junction sequences
-
Mount S (1982) A catalogue of splice junction sequences. Nucleic Acids Res 10:459-472
-
(1982)
Nucleic Acids Res.
, vol.10
, pp. 459-472
-
-
Mount, S.1
-
34
-
-
0032913877
-
Regulation of fibronectin EDA exon alternative splicing: Possible role of RNA secondary structure for enhancer display
-
Muro AF, Caputi M, Pariyarath R, Pagani F, Buratti E, Baralle FE (1999) Regulation of fibronectin EDA exon alternative splicing: possible role of RNA secondary structure for enhancer display. Mol Cell Biol 19:2657-2671
-
(1999)
Mol. Cell Biol.
, vol.19
, pp. 2657-2671
-
-
Muro, A.F.1
Caputi, M.2
Pariyarath, R.3
Pagani, F.4
Buratti, E.5
Baralle, F.E.6
-
35
-
-
0035902605
-
Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice
-
Nicolas G, Bennoun M, Devaux I, Beaumont C, Grandchamp B, Kahn A, Vaulont S (2001) Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice. Proc Natl Acad Sci USA 98:8780-8785
-
(2001)
Proc. Natl. Acad. Sci. USA
, vol.98
, pp. 8780-8785
-
-
Nicolas, G.1
Bennoun, M.2
Devaux, I.3
Beaumont, C.4
Grandchamp, B.5
Kahn, A.6
Vaulont, S.7
-
36
-
-
0034930197
-
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
-
Njajou OT, Vaessen N, Joosse M, Berghuis B, Dongen JW van, Breuning MH, Snijders PJ, Rutten WP, Sandkuijl LA, Oostra BA, Duijn CM van, Heutink P (2001) A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet 28:213-214
-
(2001)
Nat. Genet.
, vol.28
, pp. 213-214
-
-
Njajou, O.T.1
Vaessen, N.2
Joosse, M.3
Berghuis, B.4
van Dongen, J.W.5
Breuning, M.H.6
Snijders, P.J.7
Rutten, W.P.8
Sandkuijl, L.A.9
Oostra, B.A.10
van Duijn, C.M.11
Heutink, P.12
-
37
-
-
0022555839
-
Splicing of messenger RNA precursors
-
Padgett R, Grabowski P, Konarska M, Seiler S, Sharp P (1986) Splicing of messenger RNA precursors. Annu Rev Biochem 55:1119-1150
-
(1986)
Annu. Rev. Biochem.
, vol.55
, pp. 1119-1150
-
-
Padgett, R.1
Grabowski, P.2
Konarska, M.3
Seiler, S.4
Sharp, P.5
-
38
-
-
0035896642
-
Hepcidin, a urinary antimicrobial peptide synthesized in the liver
-
Park CH, Valore EV, Waring AJ, Ganz T (2001) Hepcidin, a urinary antimicrobial peptide synthesized in the liver. J Biol Chem 276:7806-7810
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 7806-7810
-
-
Park, C.H.1
Valore, E.V.2
Waring, A.J.3
Ganz, T.4
-
39
-
-
0035896581
-
A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload
-
Pigeon C, Ilyin G, Courselaud B, Leroyer P, Turlin B, Brissot P, Loreal O (2001) A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload. J Biol Chem 276:7811-7819
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 7811-7819
-
-
Pigeon, C.1
Ilyin, G.2
Courselaud, B.3
Leroyer, P.4
Turlin, B.5
Brissot, P.6
Loreal, O.7
-
41
-
-
0001019873
-
Primary iron overload
-
Brock JH, Halliday JW, Pippard MJ, Powell LW (eds) Saunders, London
-
Powell LW, Jazwinska EC, Halliday JW (1994) Primary iron overload. In: Brock JH, Halliday JW, Pippard MJ, Powell LW (eds) Iron metabolism in health and disease. Saunders, London, pp 228-270
-
(1994)
Iron Metabolism in Health and Disease
, pp. 228-270
-
-
Powell, L.W.1
Jazwinska, E.C.2
Halliday, J.W.3
-
42
-
-
0030884018
-
Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis
-
Rhodes D, Raha-Chowdhury R, Cox TM, Trowsdale J (1997) Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis. J Med Genet 34:761-764
-
(1997)
J. Med. Genet.
, vol.34
, pp. 761-764
-
-
Rhodes, D.1
Raha-Chowdhury, R.2
Cox, T.M.3
Trowsdale, J.4
-
43
-
-
0038536855
-
Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN1 gene (SLC11A3) in a large French-Canadian family
-
Rivard SR, Lanzara C, Grimard D, Carella M, Simard H, Ficarella R, Simard R, D'Adamo AP, De Brackeleer M, Gasparini P (2003) Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN1 gene (SLC11A3) in a large French-Canadian family. Haematologica 88:824-826
-
(2003)
Haematologica
, vol.88
, pp. 824-826
-
-
Rivard, S.R.1
Lanzara, C.2
Grimard, D.3
Carella, M.4
Simard, H.5
Ficarella, R.6
Simard, R.7
D'Adamo, A.P.8
De Brackeleer, M.9
Gasparini, P.10
-
44
-
-
18344401294
-
Multicentric origin of hemochromatosis gene (HFE) mutations
-
Rochette J, Pointon JJ, Fisher CA, Perera G, Arambepola M, Arichchi DS, De Silva S, Vandwalle JL, Monti JP, Old JM, Merryweather-Clarke AT, Weatherall DJ, Robson KJ (1999) Multicentric origin of hemochromatosis gene (HFE) mutations. Am J Hum Genet 64:1056-1062
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 1056-1062
-
-
Rochette, J.1
Pointon, J.J.2
Fisher, C.A.3
Perera, G.4
Arambepola, M.5
Arichchi, D.S.6
De Silva, S.7
Vandwalle, J.L.8
Monti, J.P.9
Old, J.M.10
Merryweather-Clarke, A.T.11
Weatherall, D.J.12
Robson, K.J.13
-
45
-
-
0035353167
-
New mutations inactivating transferrin receptor 2 in hemochromatosis type 3
-
Roetto A, Totaro A, Piperno A, Piga A, Longo F, Garozzo G, Cali A, De Gobbi M, Gasparini P, Camaschella C (2001) New mutations inactivating transferrin receptor 2 in hemochromatosis type 3. Blood 97:2555-2560
-
(2001)
Blood
, vol.97
, pp. 2555-2560
-
-
Roetto, A.1
Totaro, A.2
Piperno, A.3
Piga, A.4
Longo, F.5
Garozzo, G.6
Cali, A.7
De Gobbi, M.8
Gasparini, P.9
Camaschella, C.10
-
46
-
-
0037100383
-
A valine deletion of ferroportin 1: A common mutation in hemochromastosis type 4
-
Roetto A, Merryweather-Clarke AT, Daraio F, Livesey K, Pointon JJ, Barbabietola G, Piga A, Mackie PH, Robson KJ, Camaschella C (2002) A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4. Blood 100:733-734
-
(2002)
Blood
, vol.100
, pp. 733-734
-
-
Roetto, A.1
Merryweather-Clarke, A.T.2
Daraio, F.3
Livesey, K.4
Pointon, J.J.5
Barbabietola, G.6
Piga, A.7
Mackie, P.H.8
Robson, K.J.9
Camaschella, C.10
-
47
-
-
20244388240
-
Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis
-
Roetto A, Papanikolaou G, Politou M, Alberti F, Girelli D, Christakis J, Loukopoulos D, Camaschella C (2003) Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet 33:21-22
-
(2003)
Nat. Genet.
, vol.33
, pp. 21-22
-
-
Roetto, A.1
Papanikolaou, G.2
Politou, M.3
Alberti, F.4
Girelli, D.5
Christakis, J.6
Loukopoulos, D.7
Camaschella, C.8
-
48
-
-
0036178211
-
The frequent 5,10-methylenetetrahydrofolate reductase C677T polymorphism is associated with a common haplotype in whites, Japanese, and Africans
-
Rosenberg N, Murata M, Ikeda Y, Opare-Sem O, Zivelin A, Geffen E, Seligsohn U (2002) The frequent 5,10-methylenetetrahydrofolate reductase C677T polymorphism is associated with a common haplotype in whites, Japanese, and Africans. Am J Hum Genet 70:758-762
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 758-762
-
-
Rosenberg, N.1
Murata, M.2
Ikeda, Y.3
Opare-Sem, O.4
Zivelin, A.5
Geffen, E.6
Seligsohn, U.7
-
49
-
-
0034966139
-
Low penetrant hemochromatosis phenotype in eight families: No evidence of modifiers in the MHC region
-
Sachot S, Moirand R, Jouanolle AM, Mosser J, Fergelot P, Deugnier Y, Brissot P, Gall JY le, David V (2001) Low penetrant hemochromatosis phenotype in eight families: no evidence of modifiers in the MHC region. Blood Cells Mol Dis 27:518-529
-
(2001)
Blood Cells Mol. Dis.
, vol.27
, pp. 518-529
-
-
Sachot, S.1
Moirand, R.2
Jouanolle, A.M.3
Mosser, J.4
Fergelot, P.5
Deugnier, Y.6
Brissot, P.7
le Gall, J.Y.8
David, V.9
-
50
-
-
0037100517
-
Novel mutation in ferroportin 1 is associated with autosomal dominant hemochromatosis
-
Wallace DF, Pedersen P, Dixon JL, Stephenson P, Searle JW, Powell LW, Subramaniam VN (2002) Novel mutation in ferroportin 1 is associated with autosomal dominant hemochromatosis. Blood 100:692-694
-
(2002)
Blood
, vol.100
, pp. 692-694
-
-
Wallace, D.F.1
Pedersen, P.2
Dixon, J.L.3
Stephenson, P.4
Searle, J.W.5
Powell, L.W.6
Subramaniam, V.N.7
-
51
-
-
0005600868
-
A simple genetic test identifies 90% of UK patients with haemochromatosis
-
Worwood M, Shearman JD, Wallace DF, Dooley JS, Merryweather-Clarke AT, Pointon JJ, Rosenberg WMC, Bowen DJ, Burnett AK, Jackson HA, Lawless S, Raha-Chowdhury R, Partridge J, Williams R, Bomford A, Walker AP, Robson KJH (1997) A simple genetic test identifies 90% of UK patients with haemochromatosis. Gut 41:841-844
-
(1997)
Gut
, vol.41
, pp. 841-844
-
-
Worwood, M.1
Shearman, J.D.2
Wallace, D.F.3
Dooley, J.S.4
Merryweather-Clarke, A.T.5
Pointon, J.J.6
Rosenberg, W.M.C.7
Bowen, D.J.8
Burnett, A.K.9
Jackson, H.A.10
Lawless, S.11
Raha-Chowdhury, R.12
Partridge, J.13
Williams, R.14
Bomford, A.15
Walker, A.P.16
Robson, K.J.H.17
-
52
-
-
0040156804
-
Apolipoprotein E polymorphism in the early onset of coronary heart disease
-
Yang Z, Zhu T, Ma G, Yin H, Qian W, Zhang F, Cao K, Ma W (2001) Apolipoprotein E polymorphism in the early onset of coronary heart disease. Chin Med J 114:983-985
-
(2001)
Chin. Med. J.
, vol.114
, pp. 983-985
-
-
Yang, Z.1
Zhu, T.2
Ma, G.3
Yin, H.4
Qian, W.5
Zhang, F.6
Cao, K.7
Ma, W.8
-
53
-
-
3042605040
-
Differential expression of the 5′-(GT)n repeat in the SLC11A1 gene: Opposite allelic effect in the presence of the -237C→T polymorphism
-
Zaahl MG, Robson KJH, Warnich L, Kotze MJ (2004) Differential expression of the 5′-(GT)n repeat in the SLC11A1 gene: opposite allelic effect in the presence of the -237C→T polymorphism. Blood Cells Mol Dis 33:45-50
-
(2004)
Blood Cells Mol. Dis.
, vol.33
, pp. 45-50
-
-
Zaahl, M.G.1
Robson, K.J.H.2
Warnich, L.3
Kotze, M.J.4
-
54
-
-
0027160003
-
Distinct functions of SR proteins in alternative pre-mRNA splicing
-
Zahler AM, Neugebauer KM, Lane WS, Roth MB (1993) Distinct functions of SR proteins in alternative pre-mRNA splicing. Science 260:219-222
-
(1993)
Science
, vol.260
, pp. 219-222
-
-
Zahler, A.M.1
Neugebauer, K.M.2
Lane, W.S.3
Roth, M.B.4
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