PubMed

Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia.

Beutler E, Van Geet C, Te Loo DM, Gelbart T, Crain K, Truksa J, Lee PL.

Blood Cells Mol Dis. 2009 Oct 7. [Epub ahead of print]PMID: 19818657 [PubMed - as supplied by publisher]Related articles

Suppression of the hepcidin-encoding gene Hamp permits iron overload in mice lacking both hemojuvelin and matriptase-2/TMPRSS6.

Truksa J, Gelbart T, Peng H, Beutler E, Beutler B, Lee P.

Br J Haematol. 2009 Nov;147(4):571-81. Epub 2009 Sep 8.PMID: 19751239 [PubMed - in process]Related articles

Genetic screening for low-penetrance variants in protein-coding genes.

Waalen J, Beutler E.

Annu Rev Genomics Hum Genet. 2009;10:431-50. Review.PMID: 19715441 [PubMed - indexed for MEDLINE]Related articles

Regulation of hepcidin and iron-overload disease.

Lee PL, Beutler E.

Annu Rev Pathol. 2009;4:489-515. Review.PMID: 19400694 [PubMed - indexed for MEDLINE]Related articles

The global prevalence of glucose-6-phosphate dehydrogenase deficiency: a systematic review and meta-analysis.

Nkhoma ET, Poole C, Vannappagari V, Hall SA, Beutler E.

Blood Cells Mol Dis. 2009 May-Jun;42(3):267-78. Epub 2009 Feb 23. Review.PMID: 19233695 [PubMed - indexed for MEDLINE]Related articles

Two BMP responsive elements, STAT, and bZIP/HNF4/COUP motifs of the hepcidin promoter are critical for BMP, SMAD1, and HJV responsiveness.

Truksa J, Lee P, Beutler E.

Blood. 2009 Jan 15;113(3):688-95. Epub 2008 Nov 7.PMID: 18997172 [PubMed - indexed for MEDLINE]Related articles

Severe iron overload with a novel aminolevulinate synthase mutation and hepatitis C infection. A case report.

Lee P, Rice L, McCarthy JJ, Beutler E.

Blood Cells Mol Dis. 2009 Jan-Feb;42(1):1-4. Epub 2008 Sep 26.PMID: 18823803 [PubMed - indexed for MEDLINE]Related articles

The anemia of ageing is not associated with increased plasma hepcidin levels.

Lee P, Gelbart T, Waalen J, Beutler E.

Blood Cells Mol Dis. 2008 Nov-Dec;41(3):252-4. Epub 2008 Aug 3.PMID: 18676162 [PubMed - indexed for MEDLINE]Related articles

Iron-overload-related disease in HFE hereditary hemochromatosis.

Waalen J, Beutler E.

N Engl J Med. 2008 May 22;358(21):2293-4; author reply 2294-5. No abstract available. PMID: 18499578 [PubMed - indexed for MEDLINE]Related articles

The serine protease TMPRSS6 is required to sense iron deficiency.

Du X, She E, Gelbart T, Truksa J, Lee P, Xia Y, Khovananth K, Mudd S, Mann N, Moresco EM, Beutler E, Beutler B.

Science. 2008 May 23;320(5879):1088-92. Epub 2008 May 1.PMID: 18451267 [PubMed - indexed for MEDLINE]Related articlesFree article

Prevalence of type 1 Gaucher disease in the United States.

Weinreb NJ, Andersson HC, Banikazemi M, Barranger J, Beutler E, Charrow J, Grabowski GA, Hollak CE, Kaplan P, Mankin H, Mistry PK, Rosenbloom BE, Vom Dahl S, Zimran A.

Arch Intern Med. 2008 Feb 11;168(3):326-7; author reply 327-8. No abstract available. PMID: 18268176 [PubMed - indexed for MEDLINE]Related articles

Glucose-6-phosphate dehydrogenase deficiency: a historical perspective.

Beutler E.

Blood. 2008 Jan 1;111(1):16-24.PMID: 18156501 [PubMed - indexed for MEDLINE]Related articlesFree article

A new case of human atransferrinemia with a previously undescribed mutation in the transferrin gene.

Aslan D, Crain K, Beutler E.

Acta Haematol. 2007;118(4):244-7. Epub 2007 Dec 20. Review.PMID: 18097132 [PubMed - indexed for MEDLINE]Related articles

Screening for hemochromatosis by measuring ferritin levels: a more effective approach.

Waalen J, Felitti VJ, Gelbart T, Beutler E.

Blood. 2008 Apr 1;111(7):3373-6. Epub 2007 Nov 19.PMID: 18025154 [PubMed - indexed for MEDLINE]Related articlesFree article

Chronic non-spherocytic hemolytic anemia associated with severe neurological disease due to gamma-glutamylcysteine synthetase deficiency in a patient of Moroccan origin.

Mañú Pereira M, Gelbart T, Ristoff E, Crain KC, Bergua JM, López Lafuente A, Kalko SG, García Mateos E, Beutler E, Vives Corrons JL.

Haematologica. 2007 Nov;92(11):e102-5.PMID: 18024385 [PubMed - indexed for MEDLINE]Related articlesFree article

Glucose-6-phosphate dehydrogenase deficiency and antimalarial drug development.

Beutler E, Duparc S; G6PD Deficiency Working Group.

Am J Trop Med Hyg. 2007 Oct;77(4):779-89. Review.PMID: 17978087 [PubMed - indexed for MEDLINE]Related articlesFree article

Congenital Gaucher disease with nonimmune hydrops/erythroblastosis, infantile arterial calcification, and neonatal hepatitis/fibrosis. Clinicopathologic report with enzymatic and genetic analysis.

Spear GS, Beutler E, Hungs M.

Fetal Pediatr Pathol. 2007 May-Jun;26(3):153-68.PMID: 17886025 [PubMed - indexed for MEDLINE]Related articles

Carrier screening for Gaucher disease: more harm than good?

Beutler E.

JAMA. 2007 Sep 19;298(11):1329-31. No abstract available. PMID: 17878426 [PubMed - indexed for MEDLINE]Related articles

Different regulatory elements are required for response of hepcidin to interleukin-6 and bone morphogenetic proteins 4 and 9.

Truksa J, Peng H, Lee P, Beutler E.

Br J Haematol. 2007 Oct;139(1):138-47.PMID: 17854319 [PubMed - indexed for MEDLINE]Related articles

Human chitotriosidase polymorphisms G354R and A442V associated with reduced enzyme activity.

Lee P, Waalen J, Crain K, Smargon A, Beutler E.

Blood Cells Mol Dis. 2007 Nov-Dec;39(3):353-60. Epub 2007 Aug 10.PMID: 17693102 [PubMed - indexed for MEDLINE]Related articlesFree article

The role of STAT, AP-1, E-box and TIEG motifs in the regulation of hepcidin by IL-6 and BMP-9: lessons from human HAMP and murine Hamp1 and Hamp2 gene promoters.

Truksa J, Lee P, Beutler E.

Blood Cells Mol Dis. 2007 Nov-Dec;39(3):255-62. Epub 2007 Aug 6.PMID: 17689119 [PubMed - indexed for MEDLINE]Related articlesFree article

Consensus recommendations.

Beutler E.

Br J Haematol. 2007 Sep;138(6):673-5. Epub 2007 Jul 26. No abstract available. PMID: 17655726 [PubMed - indexed for MEDLINE]Related articles

The distal location of the iron responsive region of the hepcidin promoter.

Truksa J, Lee P, Peng H, Flanagan J, Beutler E.

Blood. 2007 Nov 1;110(9):3436-7. Epub 2007 Jul 20.PMID: 17644736 [PubMed - indexed for MEDLINE]Related articlesFree article

Iron storage disease: facts, fiction and progress.

Beutler E.

Blood Cells Mol Dis. 2007 Sep-Oct;39(2):140-7. Epub 2007 May 31. Review.PMID: 17540589 [PubMed - indexed for MEDLINE]Related articlesFree article

In vivo imaging of hepcidin promoter stimulation by iron and inflammation.

Flanagan JM, Truksa J, Peng H, Lee P, Beutler E.

Blood Cells Mol Dis. 2007 May-Jun;38(3):253-7. Epub 2007 Feb 28.PMID: 17331760 [PubMed - indexed for MEDLINE]Related articlesFree article

PGK deficiency.

Beutler E.

Br J Haematol. 2007 Jan;136(1):3-11. Review.PMID: 17222195 [PubMed - indexed for MEDLINE]Related articles

Effects of alcohol consumption on iron metabolism in mice with hemochromatosis mutations.

Flanagan JM, Peng H, Beutler E.

Alcohol Clin Exp Res. 2007 Jan;31(1):138-43.PMID: 17207112 [PubMed - indexed for MEDLINE]Related articles

Population-based sample reveals gene-gender interactions in blood pressure in White Americans.

Rana BK, Insel PA, Payne SH, Abel K, Beutler E, Ziegler MG, Schork NJ, O'Connor DT.

Hypertension. 2007 Jan;49(1):96-106. Epub 2006 Dec 11.PMID: 17159089 [PubMed - indexed for MEDLINE]Related articlesFree article

Soluble transferrin receptor-1 levels in mice do not affect iron absorption.

Flanagan JM, Peng H, Wang L, Gelbart T, Lee P, Johnson Sasu B, Beutler E.

Acta Haematol. 2006;116(4):249-54.PMID: 17119325 [PubMed - indexed for MEDLINE]Related articles

Hepcidin mimetics from microorganisms? A possible explanation for the effect of Helicobacter pylori on iron homeostasis.

Beutler E.

Blood Cells Mol Dis. 2007 Jan-Feb;38(1):54-5; discussion 56. Epub 2006 Oct 27. No abstract available. PMID: 17071115 [PubMed - indexed for MEDLINE]Related articlesFree article

Red cell glucose phosphate isomerase (GPI): a molecular study of three novel mutations associated with hereditary nonspherocytic hemolytic anemia.

Repiso A, Oliva B, Vives-Corrons JL, Beutler E, Carreras J, Climent F.

Hum Mutat. 2006 Nov;27(11):1159.PMID: 17041899 [PubMed - indexed for MEDLINE]Related articles

Helicobacter pylori infection and HFE hemochromatosis.

Beutler E, Gelbart T.

Blood Cells Mol Dis. 2006 Nov-Dec;37(3):188-91. Epub 2006 Sep 25.PMID: 16996754 [PubMed - indexed for MEDLINE]Related articles

The fatty acid amide hydrolase 385 A/A (P129T) variant: haplotype analysis of an ancient missense mutation and validation of risk for drug addiction.

Flanagan JM, Gerber AL, Cadet JL, Beutler E, Sipe JC.

Hum Genet. 2006 Nov;120(4):581-8. Epub 2006 Sep 14.PMID: 16972078 [PubMed - indexed for MEDLINE]Related articles

Low-dose therapy trumps high-dose therapy again in the treatment of Gaucher disease.

Zimran A, Elstein D, Beutler E.

Blood. 2006 Aug 1;108(3):802-3. No abstract available. PMID: 16861338 [PubMed - indexed for MEDLINE]Related articlesFree article

Bone morphogenetic proteins 2, 4, and 9 stimulate murine hepcidin 1 expression independently of Hfe, transferrin receptor 2 (Tfr2), and IL-6.

Truksa J, Peng H, Lee P, Beutler E.

Proc Natl Acad Sci U S A. 2006 Jul 5;103(27):10289-93. Epub 2006 Jun 26.PMID: 16801541 [PubMed - indexed for MEDLINE]Related articlesFree article

The identification of a recurrent phosphoglycerate kinase mutation associated with chronic haemolytic anaemia and neurological dysfunction in a family from USA.

Flanagan JM, Rhodes M, Wilson M, Beutler E.

Br J Haematol. 2006 Jul;134(2):233-7. Epub 2006 Jun 1.PMID: 16740138 [PubMed - indexed for MEDLINE]Related articles

Gaucher disease: multiple lessons from a single gene disorder.

Beutler E.

Acta Paediatr Suppl. 2006 Apr;95(451):103-9. Review.PMID: 16720474 [PubMed - indexed for MEDLINE]Related articles

The genetic basis of human erythrocyte pyridoxal kinase activity variation.

Flanagan JM, Beutler E.

Haematologica. 2006 Jun;91(6):801-4. Epub 2006 May 16.PMID: 16704963 [PubMed - indexed for MEDLINE]Related articlesFree article

Hereditary hemochromatosis: screening and management.

Waalen J, Beutler E.

Curr Hematol Rep. 2006 Mar;5(1):34-40. Review.PMID: 16537044 [PubMed - indexed for MEDLINE]Related articles

Lysosomal storage diseases: natural history and ethical and economic aspects.

Beutler E.

Mol Genet Metab. 2006 Jul;88(3):208-15. Epub 2006 Mar 3. Review.PMID: 16515872 [PubMed - indexed for MEDLINE]Related articles

Three kinships with ALAS2 P520L (c. 1559 C --> T) mutation, two in association with severe iron overload, and one with sideroblastic anemia and severe iron overload.

Lee PL, Barton JC, Rao SV, Acton RT, Adler BK, Beutler E.

Blood Cells Mol Dis. 2006 Mar-Apr;36(2):292-7. Epub 2006 Jan 30.PMID: 16446107 [PubMed - indexed for MEDLINE]Related articles

A juvenile hemochromatosis patient homozygous for a novel deletion of cDNA nucleotide 81 of hemojuvelin.

Lee P, Promrat K, Mallette C, Flynn M, Beutler E.

Acta Haematol. 2006;115(1-2):123-7.PMID: 16424663 [PubMed - indexed for MEDLINE]Related articles

Two new phosphoglycerate kinase mutations associated with chronic haemolytic anaemia and neurological dysfunction in two patients from Spain.

Noel N, Flanagan JM, Ramirez Bajo MJ, Kalko SG, Mañú Mdel M, Garcia Fuster JL, Perez de la Ossa P, Carreras J, Beutler E, Vives Corrons JL.

Br J Haematol. 2006 Feb;132(4):523-9. Erratum in: Br J Haematol. 2006 May;133(4):451. Flanagan, John [corrected to Flanagan, Jonathan M]; Perez de la Ossa, Pablo [added]; Carreras, Josep [added]. PMID: 16412025 [PubMed - indexed for MEDLINE]Related articles

Hemochromatosis: genetics and pathophysiology.

Beutler E.

Annu Rev Med. 2006;57:331-47. Review.PMID: 16409153 [PubMed - indexed for MEDLINE]Related articles

Effect of correcting transferrin saturation for body mass index in HFE C282Y homozygotes.

Waalen J, Beutler E.

J Hepatol. 2006 Feb;44(2):433-4; author reply 434-5. Epub 2005 Nov 15. No abstract available. PMID: 16364490 [PubMed - indexed for MEDLINE]Related articles

Gaucher disease-associated glucocerebrosidases show mutation-dependent chemical chaperoning profiles.

Sawkar AR, Adamski-Werner SL, Cheng WC, Wong CH, Beutler E, Zimmer KP, Kelly JW.

Chem Biol. 2005 Nov;12(11):1235-44.PMID: 16298303 [PubMed - indexed for MEDLINE]Related articles

The definition of anemia: what is the lower limit of normal of the blood hemoglobin concentration?

Beutler E, Waalen J.

Blood. 2006 Mar 1;107(5):1747-50. Epub 2005 Sep 27. Review.PMID: 16189263 [PubMed - indexed for MEDLINE]Related articlesFree article

Hematologically important mutations: Gaucher disease.

Beutler E, Gelbart T, Scott CR.

Blood Cells Mol Dis. 2005 Nov-Dec;35(3):355-64. Epub 2005 Sep 26. Review. No abstract available. PMID: 16185900 [PubMed - indexed for MEDLINE]Related articles

Chronic inflammation does not appear to modify the homozygous hereditary hemochromatosis phenotype.

Beutler E, Waalen J, Gelbart T.

Blood Cells Mol Dis. 2005 Nov-Dec;35(3):326-7. Epub 2005 Sep 9.PMID: 16154780 [PubMed - indexed for MEDLINE]Related articles

Beware of multiple comparisons: a study of symptoms associated with mutations of the HFE hemochromatosis gene.

Waalen J, Beutler E.

Clin Chim Acta. 2005 Nov;361(1-2):128-34.PMID: 15993396 [PubMed - indexed for MEDLINE]Related articles