-
2
-
-
70349309740
-
Iron-refractory iron deficiency anemia
-
Finberg KE, (2009) Iron-refractory iron deficiency anemia. Semin Hematol 46: 378-386.
-
(2009)
Semin Hematol
, vol.46
, pp. 378-386
-
-
Finberg, K.E.1
-
3
-
-
78751628651
-
Inherited disorders of iron metabolism
-
Camaschella C, Poggiali E, (2011) Inherited disorders of iron metabolism. Curr Opin Pediatr 23: 14-20.
-
(2011)
Curr Opin Pediatr
, vol.23
, pp. 14-20
-
-
Camaschella, C.1
Poggiali, E.2
-
4
-
-
34147145982
-
Ca2+ channel blockers reverse iron overload by a new mechanism via divalent metal transporter-1
-
Ludwiczek S, Theurl I, Muckenthaler MU, Jakab M, Mair SM, et al. (2007) Ca2+ channel blockers reverse iron overload by a new mechanism via divalent metal transporter-1. Nat Med 13: 448-454.
-
(2007)
Nat Med
, vol.13
, pp. 448-454
-
-
Ludwiczek, S.1
Theurl, I.2
Muckenthaler, M.U.3
Jakab, M.4
Mair, S.M.5
-
5
-
-
0030755366
-
Cloning and characterization of a mammalian proton-coupled metal-ion transporter
-
Gunshin H, Mackenzie B, Berger UV, Gunshin Y, Romero MF, et al. (1997) Cloning and characterization of a mammalian proton-coupled metal-ion transporter. Nature 388: 482-488.
-
(1997)
Nature
, vol.388
, pp. 482-488
-
-
Gunshin, H.1
Mackenzie, B.2
Berger, U.V.3
Gunshin, Y.4
Romero, M.F.5
-
6
-
-
0030763856
-
Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene
-
Fleming MD, Trenor CC, Su MA, Foernzler D, Beier DR, et al. (1997) Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene. Nat Genet 16: 383-386.
-
(1997)
Nat Genet
, vol.16
, pp. 383-386
-
-
Fleming, M.D.1
Trenor, C.C.2
Su, M.A.3
Foernzler, D.4
Beier, D.R.5
-
7
-
-
80052989037
-
Enhanced autophagy from chronic toxicity of iron and mutant A53T alpha-synuclein: implications for neuronal cell death in Parkinson disease
-
Chew KC, Ang ET, Tai YK, Tsang F, Lo SQ, et al. (2011) Enhanced autophagy from chronic toxicity of iron and mutant A53T alpha-synuclein: implications for neuronal cell death in Parkinson disease. J Biol Chem 286: 33380-33389.
-
(2011)
J Biol Chem
, vol.286
, pp. 33380-33389
-
-
Chew, K.C.1
Ang, E.T.2
Tai, Y.K.3
Tsang, F.4
Lo, S.Q.5
-
8
-
-
12844260664
-
Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload
-
Mims MP, Guan Y, Pospisilova D, Priwitzerova M, Indrak K, et al. (2005) Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload. Blood 105: 1337-1342.
-
(2005)
Blood
, vol.105
, pp. 1337-1342
-
-
Mims, M.P.1
Guan, Y.2
Pospisilova, D.3
Priwitzerova, M.4
Indrak, K.5
-
9
-
-
30144443274
-
Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2)
-
Iolascon A, D'Apolito M, Servedio V, Cimmino F, Piga A, et al. (2006) Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2). Blood 107: 349-354.
-
(2006)
Blood
, vol.107
, pp. 349-354
-
-
Iolascon, A.1
D'Apolito, M.2
Servedio, V.3
Cimmino, F.4
Piga, A.5
-
10
-
-
33646537173
-
Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload
-
Beaumont C, Delaunay J, Hetet G, Grandchamp B, de MM, et al. (2006) Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload. Blood 107: 4168-4170.
-
(2006)
Blood
, vol.107
, pp. 4168-4170
-
-
Beaumont, C.1
Delaunay, J.2
Hetet, G.3
Grandchamp, B.4
de, M.M.5
-
11
-
-
68149168175
-
Not all DMT1 mutations lead to iron overload
-
Blanco E, Kannengiesser C, Grandchamp B, Tasso M, Beaumont C, (2009) Not all DMT1 mutations lead to iron overload. Blood Cells Mol Dis 43: 199-201.
-
(2009)
Blood Cells Mol Dis
, vol.43
, pp. 199-201
-
-
Blanco, E.1
Kannengiesser, C.2
Grandchamp, B.3
Tasso, M.4
Beaumont, C.5
-
12
-
-
37249015885
-
Natural history of recessive inheritance of DMT1 mutations
-
Iolascon A, Camaschella C, Pospisilova D, Piscopo C, Tchernia G, et al. (2008) Natural history of recessive inheritance of DMT1 mutations. J Pediatr 152: 136-139.
-
(2008)
J Pediatr
, vol.152
, pp. 136-139
-
-
Iolascon, A.1
Camaschella, C.2
Pospisilova, D.3
Piscopo, C.4
Tchernia, G.5
-
13
-
-
42649118442
-
Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)
-
Finberg KE, Heeney MM, Campagna DR, Aydinok Y, Pearson HA, et al. (2008) Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). Nat Genet 40: 569-571.
-
(2008)
Nat Genet
, vol.40
, pp. 569-571
-
-
Finberg, K.E.1
Heeney, M.M.2
Campagna, D.R.3
Aydinok, Y.4
Pearson, H.A.5
-
14
-
-
70350757743
-
Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms
-
Ramsay AJ, Quesada V, Sanchez M, Garabaya C, Sarda MP, et al. (2009) Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms. Hum Mol Genet 18: 3673-3683.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 3673-3683
-
-
Ramsay, A.J.1
Quesada, V.2
Sanchez, M.3
Garabaya, C.4
Sarda, M.P.5
-
15
-
-
78049294738
-
A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA
-
Altamura S, D'Alessio F, Selle B, Muckenthaler MU, (2010) A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA. Biochem J 431: 363-371.
-
(2010)
Biochem J
, vol.431
, pp. 363-371
-
-
Altamura, S.1
D'Alessio, F.2
Selle, B.3
Muckenthaler, M.U.4
-
16
-
-
77951822044
-
Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA)
-
De Falco L, Totaro F, Nai A, Pagani A, Girelli D, et al. (2010) Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA). Hum Mutat 31: E1390-E1405.
-
(2010)
Hum Mutat
, vol.31
-
-
De Falco, L.1
Totaro, F.2
Nai, A.3
Pagani, A.4
Girelli, D.5
-
17
-
-
66749138982
-
Matriptase-2 (TMPRSS6): a proteolytic regulator of iron homeostasis
-
Ramsay AJ, Hooper JD, Folgueras AR, Velasco G, Lopez-Otin C, (2009) Matriptase-2 (TMPRSS6): a proteolytic regulator of iron homeostasis. Haematologica 94: 840-849.
-
(2009)
Haematologica
, vol.94
, pp. 840-849
-
-
Ramsay, A.J.1
Hooper, J.D.2
Folgueras, A.R.3
Velasco, G.4
Lopez-Otin, C.5
-
18
-
-
77954249308
-
Two to tango: regulation of Mammalian iron metabolism
-
Hentze MW, Muckenthaler MU, Galy B, Camaschella C, (2010) Two to tango: regulation of Mammalian iron metabolism. Cell 142: 24-38.
-
(2010)
Cell
, vol.142
, pp. 24-38
-
-
Hentze, M.W.1
Muckenthaler, M.U.2
Galy, B.3
Camaschella, C.4
-
19
-
-
56449096622
-
The serine protease matriptase-2 (TMPRSS6) inhibits hepcidin activation by cleaving membrane hemojuvelin
-
Silvestri L, Pagani A, Nai A, De Domenico I, Kaplan J, et al. (2008) The serine protease matriptase-2 (TMPRSS6) inhibits hepcidin activation by cleaving membrane hemojuvelin. Cell Metab 8: 502-511.
-
(2008)
Cell Metab
, vol.8
, pp. 502-511
-
-
Silvestri, L.1
Pagani, A.2
Nai, A.3
De Domenico, I.4
Kaplan, J.5
-
20
-
-
79551583056
-
Hepcidin and disorders of iron metabolism
-
Ganz T, Nemeth E, (2011) Hepcidin and disorders of iron metabolism. Annu Rev Med 62: 347-360.
-
(2011)
Annu Rev Med
, vol.62
, pp. 347-360
-
-
Ganz, T.1
Nemeth, E.2
-
21
-
-
13444252281
-
Iron release from macrophages after erythrophagocytosis is up-regulated by ferroportin 1 overexpression and down-regulated by hepcidin
-
Knutson MD, Oukka M, Koss LM, Aydemir F, Wessling-Resnick M, (2005) Iron release from macrophages after erythrophagocytosis is up-regulated by ferroportin 1 overexpression and down-regulated by hepcidin. Proc Natl Acad Sci U S A 102: 1324-1328.
-
(2005)
Proc Natl Acad Sci U S A
, vol.102
, pp. 1324-1328
-
-
Knutson, M.D.1
Oukka, M.2
Koss, L.M.3
Aydemir, F.4
Wessling-Resnick, M.5
-
22
-
-
41349106987
-
Autocrine formation of hepcidin induces iron retention in human monocytes
-
Theurl I, Theurl M, Seifert M, Mair S, Nairz M, et al. (2008) Autocrine formation of hepcidin induces iron retention in human monocytes. Blood 111: 2392-2399.
-
(2008)
Blood
, vol.111
, pp. 2392-2399
-
-
Theurl, I.1
Theurl, M.2
Seifert, M.3
Mair, S.4
Nairz, M.5
-
23
-
-
70350628958
-
Common variants in TMPRSS6 are associated with iron status and erythrocyte volume
-
Benyamin B, Ferreira MA, Willemsen G, Gordon S, Middelberg RP, et al. (2009) Common variants in TMPRSS6 are associated with iron status and erythrocyte volume. Nat Genet 41: 1173-1175.
-
(2009)
Nat Genet
, vol.41
, pp. 1173-1175
-
-
Benyamin, B.1
Ferreira, M.A.2
Willemsen, G.3
Gordon, S.4
Middelberg, R.P.5
-
24
-
-
74949090955
-
A genome-wide association analysis of serum iron concentrations
-
Tanaka T, Roy CN, Yao W, Matteini A, Semba RD, et al. (2010) A genome-wide association analysis of serum iron concentrations. Blood 115: 94-96.
-
(2010)
Blood
, vol.115
, pp. 94-96
-
-
Tanaka, T.1
Roy, C.N.2
Yao, W.3
Matteini, A.4
Semba, R.D.5
-
25
-
-
79952016793
-
Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels
-
Pichler I, Minelli C, Sanna S, Tanaka T, Schwienbacher C, et al. (2011) Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels. Hum Mol Genet 20: 1232-1240.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 1232-1240
-
-
Pichler, I.1
Minelli, C.2
Sanna, S.3
Tanaka, T.4
Schwienbacher, C.5
-
26
-
-
70350638919
-
Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels
-
Chambers JC, Zhang W, Li Y, Sehmi J, Wass MN, et al. (2009) Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels. Nat Genet 41: 1170-1172.
-
(2009)
Nat Genet
, vol.41
, pp. 1170-1172
-
-
Chambers, J.C.1
Zhang, W.2
Li, Y.3
Sehmi, J.4
Wass, M.N.5
-
27
-
-
70350646902
-
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium
-
Ganesh SK, Zakai NA, van Rooij FJ, Soranzo N, Smith AV, et al. (2009) Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Nat Genet 41: 1191-1198.
-
(2009)
Nat Genet
, vol.41
, pp. 1191-1198
-
-
Ganesh, S.K.1
Zakai, N.A.2
van Rooij, F.J.3
Soranzo, N.4
Smith, A.V.5
-
28
-
-
77957721818
-
Iron supplements reduce the risk of iron deficiency anemia in marginally low birth weight infants
-
Berglund S, Westrup B, Domellof M, (2010) Iron supplements reduce the risk of iron deficiency anemia in marginally low birth weight infants. Pediatrics 126: e874-e883.
-
(2010)
Pediatrics
, vol.126
-
-
Berglund, S.1
Westrup, B.2
Domellof, M.3
-
29
-
-
77957735568
-
Immunochemical and mass-spectrometry-based serum hepcidin assays for iron metabolism disorders
-
Kroot JJ, Laarakkers CM, Geurts-Moespot AJ, Grebenchtchikov N, Pickkers P, et al. (2010) Immunochemical and mass-spectrometry-based serum hepcidin assays for iron metabolism disorders. Clin Chem 56: 1570-1579.
-
(2010)
Clin Chem
, vol.56
, pp. 1570-1579
-
-
Kroot, J.J.1
Laarakkers, C.M.2
Geurts-Moespot, A.J.3
Grebenchtchikov, N.4
Pickkers, P.5
-
30
-
-
50549094991
-
Advances in quantitative hepcidin measurements by time-of-flight mass spectrometry
-
Swinkels DW, Girelli D, Laarakkers C, Kroot J, Campostrini N, et al. (2008) Advances in quantitative hepcidin measurements by time-of-flight mass spectrometry. PLoS ONE 3: e2706.
-
(2008)
PLoS ONE
, vol.3
-
-
Swinkels, D.W.1
Girelli, D.2
Laarakkers, C.3
Kroot, J.4
Campostrini, N.5
-
31
-
-
33644751829
-
Genetic architecture of the APM1 gene and its influence on adiponectin plasma levels and parameters of the metabolic syndrome in 1,727 healthy Caucasians
-
Heid IM, Wagner SA, Gohlke H, Iglseder B, Mueller JC, et al. (2006) Genetic architecture of the APM1 gene and its influence on adiponectin plasma levels and parameters of the metabolic syndrome in 1,727 healthy Caucasians. Diabetes 55: 375-384.
-
(2006)
Diabetes
, vol.55
, pp. 375-384
-
-
Heid, I.M.1
Wagner, S.A.2
Gohlke, H.3
Iglseder, B.4
Mueller, J.C.5
-
32
-
-
77953231300
-
Sex and age interaction with genetic association of atherogenic uric acid concentrations
-
Brandstätter A, Lamina C, Kiechl S, Hunt SC, Coassin S, et al. (2010) Sex and age interaction with genetic association of atherogenic uric acid concentrations. Atherosclerosis 210: 474-478.
-
(2010)
Atherosclerosis
, vol.210
, pp. 474-478
-
-
Brandstätter, A.1
Lamina, C.2
Kiechl, S.3
Hunt, S.C.4
Coassin, S.5
-
33
-
-
29744459873
-
Thyroid function and prevalence of anti-thyroperoxidase antibodies in a population with borderline sufficient iodine intake: influences of age and sex
-
Hoogendoorn EH, Hermus AR, de VF, Ross HA, Verbeek AL, et al. (2006) Thyroid function and prevalence of anti-thyroperoxidase antibodies in a population with borderline sufficient iodine intake: influences of age and sex. Clin Chem 52: 104-111.
-
(2006)
Clin Chem
, vol.52
, pp. 104-111
-
-
Hoogendoorn, E.H.1
Hermus, A.R.2
de, V.F.3
Ross, H.A.4
Verbeek, A.L.5
-
34
-
-
30744434862
-
Adjusting multiple testing in multilocus analyses using the eigenvalues of a correlation matrix
-
Li J, Ji L, (2005) Adjusting multiple testing in multilocus analyses using the eigenvalues of a correlation matrix. Heredity 95: 221-227.
-
(2005)
Heredity
, vol.95
, pp. 221-227
-
-
Li, J.1
Ji, L.2
-
35
-
-
77950044558
-
Lost in the space of bioinformatic tools: A constantly updated survival guide for genetic epidemiology
-
Coassin S, Brandstätter A, Kronenberg F, (2010) Lost in the space of bioinformatic tools: A constantly updated survival guide for genetic epidemiology. The GenEpi Toolbox. Atherosclerosis 209: 321-335.
-
(2010)
The GenEpi Toolbox Atherosclerosis
, vol.209
, pp. 321-335
-
-
Coassin, S.1
Brandstätter, A.2
Kronenberg, F.3
-
36
-
-
79952056705
-
Genetic variability of TMPRSS6 and its association with iron deficiency anaemia
-
Delbini P, Vaja V, Graziadei G, Duca L, Nava I, et al. (2010) Genetic variability of TMPRSS6 and its association with iron deficiency anaemia. Br J Haematol 151: 281-284.
-
(2010)
Br J Haematol
, vol.151
, pp. 281-284
-
-
Delbini, P.1
Vaja, V.2
Graziadei, G.3
Duca, L.4
Nava, I.5
-
37
-
-
52649096861
-
Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency
-
Guillem F, Lawson S, Kannengiesser C, Westerman M, Beaumont C, et al. (2008) Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency. Blood 112: 2089-2091.
-
(2008)
Blood
, vol.112
, pp. 2089-2091
-
-
Guillem, F.1
Lawson, S.2
Kannengiesser, C.3
Westerman, M.4
Beaumont, C.5
-
38
-
-
78649461131
-
Common variants at 10 genomic loci influence hemoglobin A(C) levels via glycemic and nonglycemic pathways
-
Soranzo N, Sanna S, Wheeler E, Gieger C, Radke D, et al. (2010) Common variants at 10 genomic loci influence hemoglobin A(C) levels via glycemic and nonglycemic pathways. Diabetes 59: 3229-3239.
-
(2010)
Diabetes
, vol.59
, pp. 3229-3239
-
-
Soranzo, N.1
Sanna, S.2
Wheeler, E.3
Gieger, C.4
Radke, D.5
-
39
-
-
34548148686
-
Age- and gender-specific reference values of estimated GFR in Caucasians: the Nijmegen Biomedical Study
-
Wetzels JF, Kiemeney LA, Swinkels DW, Willems HL, den HM, (2007) Age- and gender-specific reference values of estimated GFR in Caucasians: the Nijmegen Biomedical Study. Kidney Int 72: 632-637.
-
(2007)
Kidney Int
, vol.72
, pp. 632-637
-
-
Wetzels, J.F.1
Kiemeney, L.A.2
Swinkels, D.W.3
Willems, H.L.4
den, H.M.5
-
40
-
-
3042784063
-
The MTE, a new core promoter element for transcription by RNA polymerase II
-
Lim CY, Santoso B, Boulay T, Dong E, Ohler U, et al. (2004) The MTE, a new core promoter element for transcription by RNA polymerase II. Genes Dev 18: 1606-1617.
-
(2004)
Genes Dev
, vol.18
, pp. 1606-1617
-
-
Lim, C.Y.1
Santoso, B.2
Boulay, T.3
Dong, E.4
Ohler, U.5
-
41
-
-
78751561955
-
Widespread regulatory activity of vertebrate microRNA* species
-
Yang JS, Phillips MD, Betel D, Mu P, Ventura A, et al. (2011) Widespread regulatory activity of vertebrate microRNA* species. RNA 17: 312-326.
-
(2011)
RNA
, vol.17
, pp. 312-326
-
-
Yang, J.S.1
Phillips, M.D.2
Betel, D.3
Mu, P.4
Ventura, A.5
-
42
-
-
3142699826
-
Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation
-
Abkevich V, Zharkikh A, Deffenbaugh AM, Frank D, Chen Y, et al. (2004) Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. J Med Genet 41: 492-507.
-
(2004)
J Med Genet
, vol.41
, pp. 492-507
-
-
Abkevich, V.1
Zharkikh, A.2
Deffenbaugh, A.M.3
Frank, D.4
Chen, Y.5
-
43
-
-
34548758543
-
Splicing in disease: disruption of the splicing code and the decoding machinery
-
Wang GS, Cooper TA, (2007) Splicing in disease: disruption of the splicing code and the decoding machinery. Nat Rev Genet 8: 749-761.
-
(2007)
Nat Rev Genet
, vol.8
, pp. 749-761
-
-
Wang, G.S.1
Cooper, T.A.2
-
44
-
-
46749098393
-
Evaluation of in silico splice tools for decision-making in molecular diagnosis
-
Houdayer C, Dehainault C, Mattler C, Michaux D, Caux-Moncoutier V, et al. (2008) Evaluation of in silico splice tools for decision-making in molecular diagnosis. Hum Mutat 29: 975-982.
-
(2008)
Hum Mutat
, vol.29
, pp. 975-982
-
-
Houdayer, C.1
Dehainault, C.2
Mattler, C.3
Michaux, D.4
Caux-Moncoutier, V.5
-
45
-
-
54349094273
-
A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron
-
Melis MA, Cau M, Congiu R, Sole G, Barella S, et al. (2008) A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron. Haematologica 93: 1473-1479.
-
(2008)
Haematologica
, vol.93
, pp. 1473-1479
-
-
Melis, M.A.1
Cau, M.2
Congiu, R.3
Sole, G.4
Barella, S.5
-
46
-
-
79251575582
-
General epistatic models of the risk of complex diseases
-
Song YS, Wang F, Slatkin M, (2010) General epistatic models of the risk of complex diseases. Genetics 186: 1467-1473.
-
(2010)
Genetics
, vol.186
, pp. 1467-1473
-
-
Song, Y.S.1
Wang, F.2
Slatkin, M.3
-
47
-
-
79953223315
-
Intestinal DMT1 cotransporter is down-regulated by hepcidin via proteasome internalization and degradation
-
Brasse-Lagnel C, Karim Z, Letteron P, Bekri S, Bado A, et al. (2011) Intestinal DMT1 cotransporter is down-regulated by hepcidin via proteasome internalization and degradation. Gastroenterology 140: 1261-1271.
-
(2011)
Gastroenterology
, vol.140
, pp. 1261-1271
-
-
Brasse-Lagnel, C.1
Karim, Z.2
Letteron, P.3
Bekri, S.4
Bado, A.5
|