ERNEST N BEUTLER

Summary

Affiliation: The Scripps Research Institute
Country: USA

Publications

  1. ncbi Hematologically important mutations: Gaucher disease
    Ernest Beutler
    The Scripps Research Institute, Department of Molecular and Experimental Medicine, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Blood Cells Mol Dis 35:355-64. 2005
  2. ncbi Glucose-6-phosphate dehydrogenase deficiency and antimalarial drug development
    Ernest Beutler
    The Scripps Research Institute, La Jolla, California 92037, USA
    Am J Trop Med Hyg 77:779-89. 2007
  3. ncbi Cell biology. "Pumping" iron: the proteins
    Ernest Beutler
    Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, CA 92037, USA
    Science 306:2051-3. 2004
  4. pmc Enzyme replacement in Gaucher disease
    Ernest Beutler
    Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, California, USA
    PLoS Med 1:e21. 2004
  5. ncbi The mitochondrial nt 16189 polymorphism and hereditary hemochromatosis
    Ernest Beutler
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA
    Blood Cells Mol Dis 33:344-5. 2004
  6. ncbi Mutations in the gene encoding cytosolic beta-glucosidase in Gaucher disease
    Ernest Beutler
    The Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, California 92037 1000, USA
    J Lab Clin Med 144:65-8. 2004
  7. ncbi Ferroportin 1 (SCL40A1) variant associated with iron overload in African-Americans
    Ernest Beutler
    Department of Molecular and Experimental Medicine, Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Blood Cells Mol Dis 31:305-9. 2003
  8. ncbi The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis
    Ernest Beutler
    Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, CA 92037, USA
    Blood 101:3347-50. 2003
  9. ncbi History of iron in medicine
    Ernest Beutler
    Department of Molecular and Experimental Medicine, Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Blood Cells Mol Dis 29:297-308. 2002
  10. ncbi Polymorphisms in glucosylceramide (glucocerebroside) synthase and the Gaucher disease phenotype
    Ernest Beutler
    Scripps Research Institute, Department of Molecular and Experimental Medicine, La Jolla, CA, USA
    Isr Med Assoc J 4:986-8. 2002

Research Grants

  1. Hemochromatosis -- Epidemiology and Molecular Mechanisms
    Ernest Beutler; Fiscal Year: 2003
  2. A Mouse Model of Gaucher Disease
    Ernest Beutler; Fiscal Year: 2004
  3. A Mouse Model of Gaucher Disease
    Ernest Beutler; Fiscal Year: 2005
  4. Hemochromatosis -- Epidemiology and Molecular Mechanisms
    Ernest Beutler; Fiscal Year: 2006
  5. Anemia in the Elderly: Pathogenesis
    Ernest Beutler; Fiscal Year: 2007
  6. INVESTIGATIVE HEMATOLOGY
    Ernest Beutler; Fiscal Year: 2007
  7. A Mouse Model of Gaucher Disease
    Ernest Beutler; Fiscal Year: 2003
  8. HEMOCHROMATOSIS--EPIDEMIOLOGY AND MOLECULAR MECHANISMS
    Ernest Beutler; Fiscal Year: 2002
  9. HEMOCHROMATOSIS--EPIDEMIOLOGY AND MOLECULAR MECHANISMS
    Ernest Beutler; Fiscal Year: 1999
  10. FORMATION AND SURVIVAL OF RED BLOOD CELLS
    Ernest Beutler; Fiscal Year: 1999

Detail Information

Publications80

  1. ncbi Hematologically important mutations: Gaucher disease
    Ernest Beutler
    The Scripps Research Institute, Department of Molecular and Experimental Medicine, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Blood Cells Mol Dis 35:355-64. 2005
  2. ncbi Glucose-6-phosphate dehydrogenase deficiency and antimalarial drug development
    Ernest Beutler
    The Scripps Research Institute, La Jolla, California 92037, USA
    Am J Trop Med Hyg 77:779-89. 2007
    ..Additionally, the issues important for conducting larger clinical trials in populations in which G6PD deficiency is prevalent are examined, with a particular focus on antimalarial drug development...
  3. ncbi Cell biology. "Pumping" iron: the proteins
    Ernest Beutler
    Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, CA 92037, USA
    Science 306:2051-3. 2004
  4. pmc Enzyme replacement in Gaucher disease
    Ernest Beutler
    Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, California, USA
    PLoS Med 1:e21. 2004
  5. ncbi The mitochondrial nt 16189 polymorphism and hereditary hemochromatosis
    Ernest Beutler
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA
    Blood Cells Mol Dis 33:344-5. 2004
    ..Indeed, the small difference found is in the opposite direction of that reported previously...
  6. ncbi Mutations in the gene encoding cytosolic beta-glucosidase in Gaucher disease
    Ernest Beutler
    The Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, California 92037 1000, USA
    J Lab Clin Med 144:65-8. 2004
    ..Six of the possible 16 haplotypes were found, and none was over- or underrepresented among patients with the severe Gaucher disease phenotypes compared with those from patients with mild phenotypes...
  7. ncbi Ferroportin 1 (SCL40A1) variant associated with iron overload in African-Americans
    Ernest Beutler
    Department of Molecular and Experimental Medicine, Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Blood Cells Mol Dis 31:305-9. 2003
    ..This variant is associated with increased ferritin levels in African-Americans and may play a role in their propensity to develop iron overload...
  8. ncbi The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis
    Ernest Beutler
    Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, CA 92037, USA
    Blood 101:3347-50. 2003
  9. ncbi History of iron in medicine
    Ernest Beutler
    Department of Molecular and Experimental Medicine, Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Blood Cells Mol Dis 29:297-308. 2002
  10. ncbi Polymorphisms in glucosylceramide (glucocerebroside) synthase and the Gaucher disease phenotype
    Ernest Beutler
    Scripps Research Institute, Department of Molecular and Experimental Medicine, La Jolla, CA, USA
    Isr Med Assoc J 4:986-8. 2002
    ..Gaucher disease results from the accumulation of glucosylceramide (glucocerebroside) in tissues of affected persons. Patients sharing the same genotype present with widely varying degrees of lipid storage and of clinical manifestations...
  11. pmc A chimeric mouse model of Gaucher disease
    E Beutler
    The Scripps Research Institute, Department of Molecular and Experimental Medicine, La Jolla, California 92037, USA
    Mol Med 8:247-50. 2002
    ..The most common form of Gaucher disease, type I, has a phenotype that is limited to the monocyte-macrophage system...
  12. pmc Hematologic differences between African-Americans and whites: the roles of iron deficiency and alpha-thalassemia on hemoglobin levels and mean corpuscular volume
    Ernest Beutler
    The Scripps Research Institute, Department of Molecular and Experimental Medicine, 10550 North Torrey Pines Rd, La Jolla, CA 92037, USA
    Blood 106:740-5. 2005
    ..1% and 2.77% and to 4.29% and 3.6%, respectively. Physicians need to take into account that the same reference standards for hemoglobin, hematocrit, MCV, and TS and the white blood cell count do not apply to all ethnic groups...
  13. ncbi Chronic inflammation does not appear to modify the homozygous hereditary hemochromatosis phenotype
    Ernest Beutler
    The Scripps Research Institute, Department of Molecular and Experimental Medicine, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Blood Cells Mol Dis 35:326-7. 2005
    ....
  14. pmc Iron storage disease: facts, fiction and progress
    Ernest Beutler
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Blood Cells Mol Dis 39:140-7. 2007
    ..While much has been learned about the regulation of iron homeostasis in the past decade, many mysteries remain and represent challenges that will keep us occupied for years to come...
  15. ncbi PGK deficiency
    Ernest Beutler
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA
    Br J Haematol 136:3-11. 2007
    ..Twenty-six families have been described and in 20 of these the mutations are known. The reason for different clinical manifestations of mutations of the same gene remains unknown...
  16. pmc Hepcidin mimetics from microorganisms? A possible explanation for the effect of Helicobacter pylori on iron homeostasis
    Ernest Beutler
    The Scripps Research Institute, Department of Molecular and Experimental Medicine, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Blood Cells Mol Dis 38:54-5; discussion 56. 2007
  17. ncbi Helicobacter pylori infection and HFE hemochromatosis
    Ernest Beutler
    The Scripps Research Institute, Department of Molecular and Experimental Medicine, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Blood Cells Mol Dis 37:188-91. 2006
    ..We also compared the total iron of 56 of the male and 32 of the female homozygotes as determined by serial phlebotomy. No significant difference was found...
  18. ncbi Gaucher disease: multiple lessons from a single gene disorder
    Ernest Beutler
    The Scripps Research Institute, La Jolla, CA 92037, USA
    Acta Paediatr Suppl 95:103-9. 2006
    ..Conclusion: The lessons that we have learned from Gaucher disease may well be applicable to the development of therapies for some of the other less common lysosomal storage diseases...
  19. ncbi Lysosomal storage diseases: natural history and ethical and economic aspects
    Ernest Beutler
    The Scripps Research Institute, Department of Molecular and Experimental Medicine, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Mol Genet Metab 88:208-15. 2006
    ..However, the cost of treating rare diseases is a growing problem that society needs to address...
  20. ncbi Hemochromatosis: genetics and pathophysiology
    Ernest Beutler
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, California 92037, USA
    Annu Rev Med 57:331-47. 2006
    ..This mutation is most prevalent among Northern Europeans. Although the frequency of the homozygous genotype is approximately 5 per 1000, the disease itself is quite rare because the clinical penetrance of the genotype is very low...
  21. pmc The definition of anemia: what is the lower limit of normal of the blood hemoglobin concentration?
    Ernest Beutler
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 N Torrey Pines Rd, La Jolla, CA 92037, USA
    Blood 107:1747-50. 2006
    ..How likely is it that the patient's hemoglobin value lies below the normal distribution; that is, "the lower limit"?..
  22. ncbi Polymorphisms in the 5' flanking region of the HFE gene: linkage disequilibrium and relationship to iron homeostasis
    Ernest Beutler
    Department of Molecular and Experimental Medicine, Division of Hematology, The Scripps Research Institute, La Jolla, California 92037, USA
    Blood Cells Mol Dis 28:191-5. 2002
    ..The tighter association of the -467 polymorphism with the C282Y mutation is consistent with other data that suggest that the C282Y mutation has occurred relatively recently and that the H63D mutation is considerably older...
  23. ncbi Severe jaundice in a patient with a previously undescribed glucose-6-phosphate dehydrogenase (G6PD) mutation and Gilbert syndrome
    Ernest Beutler
    Department of Molecular and Experimental Medicine, Division of Hematology, The Scripps Research Institute, La Jolla, California 92037, USA
    Blood Cells Mol Dis 28:104-7. 2002
    ..832 T-->C (Ser278Pro). The new variant was named G6PD La Jolla...
  24. pmc HLA-H and associated proteins in patients with hemochromatosis
    E Beutler
    Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, California 92037, USA
    Mol Med 3:397-402. 1997
    ..Calreticulin associates with class 1 HLA proteins and appears to be identical with mobilferrin, a putative iron transport protein. These two proteins are therefore candidates for mutations in patients with hemochromatosis...
  25. ncbi Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA
    Ernest Beutler
    Scripps Research Institute, Department of Molecular and Experimental Medicine, Divisions of Hematology, La Jolla, CA 92037, USA
    Lancet 359:211-8. 2002
    ..About five people in 1000 are homozygotes for the 845G-->A mutation, but little is known of how many have mutation-caused clinical manifestations...
  26. ncbi The hHFE gene of browsing and grazing rhinoceroses: a possible site of adaptation to a low-iron diet
    E Beutler
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, California 92037, USA
    Blood Cells Mol Dis 27:342-50. 2001
    ..This mutation, S88T, is in a highly conserved region that is involved in the interaction between transferrin receptor and HFE...
  27. ncbi Synergy between TLR2 and TLR4: a safety mechanism
    E Beutler
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, California 92037, USA
    Blood Cells Mol Dis 27:728-30. 2001
    ....
  28. ncbi Discrepancies between genotype and phenotype in hematology: an important frontier
    E Beutler
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA
    Blood 98:2597-602. 2001
    ....
  29. ncbi A common intron 3 mutation (IVS3 -48c-->g) leads to misdiagnosis of the c.845G-->A (C282Y) HFE gene mutation
    E Beutler
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, California 92037, USA
    Blood Cells Mol Dis 26:229-33. 2000
    ..We therefore recommend exonic amplimers that avoid sites that contain polymorphisms and that can be multiplexed for detection of the c.187C-->G (H63D) and c.845G-->A (C282Y) mutations...
  30. ncbi Genetics of iron storage and hemochromatosis
    E Beutler
    The Scripps Research Institute, La Jolla, CA 92037, USA
    Drug Metab Dispos 29:495-9. 2001
    ..The reason for the markedly variable penetrance that exists in this disorder remains unknown...
  31. ncbi Three Gaucher-disease-producing mutations in a patient with Gaucher disease: mechanism and diagnostic implications
    E Beutler
    Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, Calif 92037, USA
    Acta Haematol 104:103-5. 2000
    ..If it had not been recognized that this patient had the 1226G/1226G,1448C genotype, prenatal testing might have falsely identified a 1226G,1448C/wt (wild type) fetus as having Gaucher disease...
  32. ncbi HLA-H mutations in the Ashkenazi Jewish population
    E Beutler
    The Scripps Research Institute, Department of Molecular and Experimental Medicine, La Jolla, CA 92037, USA
    Blood Cells Mol Dis 23:95-8. 1997
    ..00001 level. The phenotypically milder nt 187C-->G mutation had a frequency of 0.155 in the non-Jewish population and 0.097 in the Jewish population, a difference that was also statistically significant at the <0.01 level...
  33. ncbi Molecular characterization of a case of atransferrinemia
    E Beutler
    The Scripps Research Institute, La Jolla, CA92037, USA
    Blood 96:4071-4. 2000
    ..The mutation in nt 1572 and that in intron 8 were common in the general population; the intron 14 mutation is rare...
  34. ncbi The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic
    E Beutler
    The Scripps Research Institute, La Jolla, California 92037, USA
    Ann Intern Med 133:329-37. 2000
    ..The gene that causes most cases of hereditary hemochromatosis is designated HFE. Three mutations exist at this locus at a relatively high gene frequency...
  35. ncbi A previously undescribed nonsense mutation of the HFE gene
    E Beutler
    The Scripps Research Institute, Department of Molecular and Experimental Medicine, Division of Hematology, La Jolla, CA 92037, USA
    Clin Genet 61:40-2. 2002
    ..No mutations were found. Sequencing of the HFE gene also revealed two polymorphisms that had not previously been noted, -467 C-->G and -970 T-->G. Neither of these mutations appear to cause an abnormality in iron metabolism...
  36. ncbi Gene therapy
    E Beutler
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, California 92037, USA
    Biol Blood Marrow Transplant 5:273-6. 1999
    ..Although effective gene therapy in humans has continued to be an elusive goal, recent advances lead us to hope that this goal will be realized within the next few years...
  37. ncbi Hematologically important mutations: Gaucher disease
    E Beutler
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Blood Cells Mol Dis 24:2-8. 1998
  38. ncbi Glucosephosphate isomerase (GPI) deficiency mutations associated with hereditary nonspherocytic hemolytic anemia (HNSHA)
    E Beutler
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Blood Cells Mol Dis 23:402-9. 1997
    ..Because no common GPI mutation has been found we suggest that heterozygosity for GPI confers little if any selective advantage...
  39. ncbi Large-scale screening for HFE mutations: methodology and cost
    E Beutler
    The Scripps Research Institute, Department of Molecular and Experimental Medicine, La Jolla, CA 92037, USA
    Genet Test 4:131-42. 2000
    ..At present, however, we find the methodology described to be very suitable for large-scale, low-cost mutation screening...
  40. ncbi Hematologically important mutations: glucose-6-phosphate dehydrogenase
    Ernest Beutler
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, California 92037, USA
    Blood Cells Mol Dis 28:93-103. 2002
  41. pmc Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism?
    E Beutler
    The Scripps Research Institute, Department of Molecular and Experimental Medicine, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Proc Natl Acad Sci U S A 95:8170-4. 1998
    ....
  42. ncbi Relationship of body iron stores to levels of serum ferritin, serum iron, unsaturated iron binding capacity and transferrin saturation in patients with iron storage disease
    Ernest Beutler
    The Scripps Research Institute, La Jolla, CA 92037, USA
    Acta Haematol 107:145-9. 2002
    ..We conclude that the serum ferritin level does provide some information regarding total iron burden but even in the case of C282Y homozygotes, the correlation is not very strong...
  43. ncbi New diallelic markers in the HLA region of chromosome 6
    E Beutler
    The Scripps Research Institute, Department of Molecular and Experimental Medicine, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Blood Cells Mol Dis 23:219-29. 1997
    ..The 845A mutation is in weak linkage disequilibrium with the ZNF192 polymorphisms and the 187G mutation appears to be in equilibrium with this polymorphism. The 187G mutation therefore appears to be the older of the two HLA-H mutations...
  44. ncbi The fatty acid amide hydrolase 385 A/A (P129T) variant: haplotype analysis of an ancient missense mutation and validation of risk for drug addiction
    Jonathan M Flanagan
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, MEM 215, La Jolla, CA 92037, USA
    Hum Genet 120:581-8. 2006
    ..Moreover, this mutation appears to have arisen early in human evolution and this study validates the previous link between the FAAH P129T variant and vulnerability to addiction of multiple different drugs...
  45. pmc The IL-6- and lipopolysaccharide-induced transcription of hepcidin in HFE-, transferrin receptor 2-, and beta 2-microglobulin-deficient hepatocytes
    Pauline Lee
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Proc Natl Acad Sci U S A 101:9263-5. 2004
    ..It is therefore not clear whether LPS stimulates secretion of cytokines other than IL-6 that may stimulate hepcidin transcription...
  46. ncbi Haematological effects of the C282Y HFE mutation in homozygous and heterozygous states among subjects of northern and southern European ancestry
    Ernest Beutler
    The Scripps Research Institute, Department of Molecular and Experimental Medicine, La Jolla, CA, USA
    Br J Haematol 120:887-93. 2003
    ....
  47. pmc Regulation of hepcidin transcription by interleukin-1 and interleukin-6
    Pauline Lee
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Proc Natl Acad Sci U S A 102:1906-10. 2005
    ..IL-1 may play a significant role in the anemia of inflammation by up-regulating hepcidin...
  48. pmc Screening for hemochromatosis by measuring ferritin levels: a more effective approach
    Jill Waalen
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA
    Blood 111:3373-6. 2008
    ....
  49. pmc Bone morphogenetic proteins 2, 4, and 9 stimulate murine hepcidin 1 expression independently of Hfe, transferrin receptor 2 (Tfr2), and IL-6
    Jaroslav Truksa
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Proc Natl Acad Sci U S A 103:10289-93. 2006
    ..Moreover, all of the tested BMPs are more potent regulators of hepcidin than IL-6 and thus are the most potent known stimulators of hepcidin transcription...
  50. doi Suppression of the hepcidin-encoding gene Hamp permits iron overload in mice lacking both hemojuvelin and matriptase-2/TMPRSS6
    Jaroslav Truksa
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA
    Br J Haematol 147:571-81. 2009
    ..This phenotype is consistent with hemojuvelin being a major substrate for matriptase-2/TMPRSS6 protease activity...
  51. ncbi Different regulatory elements are required for response of hepcidin to interleukin-6 and bone morphogenetic proteins 4 and 9
    Jaroslav Truksa
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA
    Br J Haematol 139:138-47. 2007
    ..Furthermore, there were no regulatory elements located in the non-coding or coding regions of Hamp1 and activation of the Hamp1 promoter was absent or markedly reduced in cells of non-hepatic origin...
  52. ncbi Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin
    Pauline L Lee
    The Scripps Research Institute, Department of Molecular and Experimental Medicine, 10550 N Torrey Pines Road, La Jolla, CA 92037, USA
    Blood 103:4669-71. 2004
    ..238T>C (C80R) and c.302T>C (L101P). In the second kinship, 2 previously identified mutations, G320V and I222N, were found. These studies confirm that mutations in HJV cause juvenile hemochromatosis...
  53. doi The anemia of ageing is not associated with increased plasma hepcidin levels
    Pauline Lee
    Department of Molecular and Experimental Medicine The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Blood Cells Mol Dis 41:252-4. 2008
    ..In the overall group there was a strong correlation between serum ferritin levels and hepcidin levels, as has been found previously...
  54. pmc Two BMP responsive elements, STAT, and bZIP/HNF4/COUP motifs of the hepcidin promoter are critical for BMP, SMAD1, and HJV responsiveness
    Jaroslav Truksa
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA
    Blood 113:688-95. 2009
    ....
  55. pmc The serine protease TMPRSS6 is required to sense iron deficiency
    Xin Du
    Department of Genetics, Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Science 320:1088-92. 2008
    ..TMPRSS6 is an essential component of a pathway that detects iron deficiency and blocks Hamp transcription, permitting enhanced dietary iron absorption...
  56. ncbi Population-based sample reveals gene-gender interactions in blood pressure in White Americans
    Brinda K Rana
    Department of Psychiatry, University of California at San Diego, La Jolla, CA 92093, USA
    Hypertension 49:96-106. 2007
    ..Such genetic variants may define genetically and etiologically distinct subgroups of men and women with essential hypertension and may have implications for rational treatment selection...
  57. pmc Chemical chaperones increase the cellular activity of N370S beta -glucosidase: a therapeutic strategy for Gaucher disease
    Anu R Sawkar
    Department of Chemistry and The Skaggs Institute of Chemical Biology, La Jolla, CA 92037, USA
    Proc Natl Acad Sci U S A 99:15428-33. 2002
    ..Clinical data suggest that a modest increase in beta-Glu activity may be sufficient to achieve a therapeutic effect...
  58. ncbi Penetrance of hemochromatosis
    Jill Waalen
    Department of Molecular and Experimental Medicine, Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Blood Cells Mol Dis 29:418-32. 2002
    ..The very low clinical penetrance of the HFE mutations must be taken into account in calculating cost/benefit and risk/benefit ratios in screening for hemochromatosis...
  59. pmc Severe iron overload with a novel aminolevulinate synthase mutation and hepatitis C infection. A case report
    Pauline Lee
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA
    Blood Cells Mol Dis 42:1-4. 2009
    ..We suggest that the ALAS2 mutation together with chronic hepatitis C infection may have caused the severe iron overload phenotype...
  60. ncbi Effects of alcohol consumption on iron metabolism in mice with hemochromatosis mutations
    Jonathan M Flanagan
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA, USA
    Alcohol Clin Exp Res 31:138-43. 2007
    ..Alcohol intake is also a major factor in expression of the hemochromatosis phenotype in patients homozygous for the C282Y mutation of the HFE gene...
  61. doi Regulation of hepcidin and iron-overload disease
    Pauline L Lee
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA
    Annu Rev Pathol 4:489-515. 2009
    ..Knowledge of the regulation of hepcidin by inflammation, iron, erythropoiesis, and hypoxia will lead to an understanding of the pathogenesis of primary hemochromatosis, secondary iron overload, and anemia of inflammatory disease...
  62. doi Genetic screening for low-penetrance variants in protein-coding genes
    Jill Waalen
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, California 92037, USA
    Annu Rev Genomics Hum Genet 10:431-50. 2009
    ..The trend toward recommending restricting use of these tests by medical experts is contrasted with the growing availability of genetic tests, including those for low-penetrance mutations, through direct-to-consumer outlets...
  63. pmc Human chitotriosidase polymorphisms G354R and A442V associated with reduced enzyme activity
    Pauline Lee
    The Scripps Research Institute, Department of Molecular and Experimental Medicine, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Blood Cells Mol Dis 39:353-60. 2007
    ..We also investigated the possibility that chitotriosidase deficiency was associated with tuberculosis or with atopy, including allergic rhinitis, contact dermatitis, food or drug allergies and asthma...
  64. pmc 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
    Jaroslav Truksa
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Blood Cells Mol Dis 39:255-62. 2007
    ....
  65. ncbi Soluble transferrin receptor-1 levels in mice do not affect iron absorption
    Jonathan M Flanagan
    Department of Molecular and Experimental Medicine, Scripps Research Institute, MEM 215, La Jolla, CA 92037, USA
    Acta Haematol 116:249-54. 2006
    ..Thus, despite its attractiveness as a potential modifier of iron absorption, sTfR1 levels do not exert a regulatory effect on iron absorption...
  66. pmc Asian genotypes of JC virus in Japanese-Americans suggest familial transmission
    Makoto Suzuki
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, California 92037, USA
    J Virol 76:10074-8. 2002
    ..This finding provides support for the hypothesis that JCV is transmitted mainly within the family through long-term cohabitation...
  67. ncbi Prevalence of coronary heart disease associated with HFE mutations in adults attending a health appraisal center
    Jill Waalen
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, California 92037, USA
    Am J Med 113:472-9. 2002
    ..We examined the relation between two HFE mutations (C282Y and H63D), indicators of iron homeostasis, and the prevalence of coronary heart disease in a large population of white adults...
  68. ncbi Haptoglobin polymorphism and iron homeostasis
    Ernest Beutler
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Rd, La Jolla, CA 92037, USA
    Clin Chem 48:2232-5. 2002
    ..It has been reported that individuals with the haptoglobin 2-2 type manifest increased iron concentrations, including serum iron, transferrin saturation, and ferritin...
  69. ncbi Prevalence of hemochromatosis-related symptoms among individuals with mutations in the HFE gene
    Jill Waalen
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA
    Mayo Clin Proc 77:522-30. 2002
    ....
  70. ncbi Seeking candidate mutations that affect iron homeostasis
    Pauline Lee
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, MEM215, 10550 North Torrey Pines Road, La Jolla, CA 92014, USA
    Blood Cells Mol Dis 29:471-87. 2002
    ..Only in the case of one transferrin mutation did we find a strong relationship between the polymorphism and iron deficiency anemia. The putative genes that affect the expression of HFE mutations remain elusive...
  71. ncbi Polymorphisms in the human homologue of the drosophila Indy (I'm not dead yet) gene
    Pauline Lee
    Division of Hematology, Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Mech Ageing Dev 124:897-902. 2003
    ..3514, 0.5104, 0.4274 and 0.5375, respectively. The I550V polymorphism was genotyped in 2366 subjects and examined for its association with age and weight...
  72. ncbi Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis
    Pauline L Lee
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA, USA
    Br J Haematol 127:224-9. 2004
    ..Notable among these was a DNA triplet insert, predicting an insertion of glycine, found in two African-American subjects, one with and one without iron storage disease...
  73. ncbi Reduced endocannabinoid immune modulation by a common cannabinoid 2 (CB2) receptor gene polymorphism: possible risk for autoimmune disorders
    Jack C Sipe
    Department of Molecular and Experimental Medicine, The Scripps Research Institute MEM 215, La Jolla, CA 92037, USA
    J Leukoc Biol 78:231-8. 2005
    ....
  74. ncbi Beware of multiple comparisons: a study of symptoms associated with mutations of the HFE hemochromatosis gene
    Jill Waalen
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Clin Chim Acta 361:128-34. 2005
    ..Genetic association studies are particularly prone to this pitfall. We tested the effect of multiple comparisons in a study of symptoms among subjects genotyped for mutations of the HFE hemochromatosis gene...
  75. ncbi Polymorphisms in iron-responsive binding protein 2 and lack of association with sporadic Parkinson's disease
    Pauline L Lee
    The Scripps Research Institute, Department of Molecular and Experimental Medicine, La Jolla, California 92037, USA
    Mov Disord 17:1302-4. 2002
    ..We conclude that these IRP2 polymorphisms do not play an important role in the development of sporadic cases of PD. It remains to be determined whether other polymorphisms in IRP2 play a role in familial PD...
  76. ncbi A juvenile hemochromatosis patient homozygous for a novel deletion of cDNA nucleotide 81 of hemojuvelin
    Pauline Lee
    Department of Molecular and Experimental Medicine, Scripps Research Center, La Jolla, California, USA
    Acta Haematol 115:123-7. 2006
    ..The patient has been treated intermittently by phlebotomy for 24 years. The aim of this study was to investigate the genetic basis of the patient's iron overload disease...
  77. ncbi 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
    Pauline L Lee
    The Scripps Research Institute, Department of Molecular and Experimental Medicine, 10550 North Torrey Pines Road, MEM 215, La Jolla, CA 92037, USA
    Blood Cells Mol Dis 36:292-7. 2006
    ..Thus, ALAS2 mutations might contribute to more severe iron loading in persons with primary hemochromatosis...
  78. ncbi Hereditary hemochromatosis: screening and management
    Jill Waalen
    The Scripps Research Institute, La Jolla, CA 92037, USA
    Curr Hematol Rep 5:34-40. 2006
    ..For most patients, phlebotomy is the preferred treatment option; iron chelation therapies are available for patients unable to tolerate phlebotomy...
  79. ncbi The identification of a recurrent phosphoglycerate kinase mutation associated with chronic haemolytic anaemia and neurological dysfunction in a family from USA
    Jonathan M Flanagan
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, MEM 215, 10550 Torrey Pines, La Jolla, CA, USA
    Br J Haematol 134:233-7. 2006
    ..Haplotype analysis of the c. 91A --> T mutation indicated that this was a recurrent mutation...
  80. pmc Haemoglobin and ferritin concentrations in men and women: cross sectional study
    Jill Waalen
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA
    BMJ 325:137. 2002

Research Grants22

  1. Hemochromatosis -- Epidemiology and Molecular Mechanisms
    Ernest Beutler; Fiscal Year: 2003
    ..The projected studies should improve our understanding of control of iron metabolism and make possible detection of those cases of hemochromatosis who are likely to become clinically affected. ..
  2. A Mouse Model of Gaucher Disease
    Ernest Beutler; Fiscal Year: 2004
    ..In particular, electron microscopy and light microscopy will be used to attempt to demonstrate the development of Gaucher cells in the chimeric mice. ..
  3. A Mouse Model of Gaucher Disease
    Ernest Beutler; Fiscal Year: 2005
    ..In particular, electron microscopy and light microscopy will be used to attempt to demonstrate the development of Gaucher cells in the chimeric mice. ..
  4. Hemochromatosis -- Epidemiology and Molecular Mechanisms
    Ernest Beutler; Fiscal Year: 2006
    ..The projected studies should improve our understanding of control of iron metabolism and make possible detection of those cases of hemochromatosis who are likely to become clinically affected. ..
  5. Anemia in the Elderly: Pathogenesis
    Ernest Beutler; Fiscal Year: 2007
    ..If such differences also occur among controls they could account for the broad normal variation in hemoglobin levels. ..
  6. INVESTIGATIVE HEMATOLOGY
    Ernest Beutler; Fiscal Year: 2007
    ..The training faculty for this program work in approximately 30,000 square feet of laboratory space used exclusively for biomedical research ..
  7. A Mouse Model of Gaucher Disease
    Ernest Beutler; Fiscal Year: 2003
    ..In particular, electron microscopy and light microscopy will be used to attempt to demonstrate the development of Gaucher cells in the chimeric mice. ..
  8. HEMOCHROMATOSIS--EPIDEMIOLOGY AND MOLECULAR MECHANISMS
    Ernest Beutler; Fiscal Year: 2002
    ..This will be done by using immunoprecipitating HLA-H containing complexes, determining HLA-H Fc receptor signaling properties and measuring the binding of peptides and other small molecules by HLA-H. ..
  9. HEMOCHROMATOSIS--EPIDEMIOLOGY AND MOLECULAR MECHANISMS
    Ernest Beutler; Fiscal Year: 1999
    ..This will be done by using immunoprecipitating HLA-H containing complexes, determining HLA-H Fc receptor signaling properties and measuring the binding of peptides and other small molecules by HLA-H. ..
  10. FORMATION AND SURVIVAL OF RED BLOOD CELLS
    Ernest Beutler; Fiscal Year: 1999
    ..Should these point mutations fail to alter gene transcription, a search will be made for other potential mutations in linkage disequilibrium with the known -5,-8 and -24 polymorphisms, by sequencing upstream through the promotor. ..
  11. HEMOCHROMATOSIS--EPIDEMIOLOGY AND MOLECULAR MECHANISMS
    Ernest Beutler; Fiscal Year: 2000
    ..This will be done by using immunoprecipitating HLA-H containing complexes, determining HLA-H Fc receptor signaling properties and measuring the binding of peptides and other small molecules by HLA-H. ..
  12. FORMATION AND SURVIVAL OF RED BLOOD CELLS
    Ernest Beutler; Fiscal Year: 2000
    ..Should these point mutations fail to alter gene transcription, a search will be made for other potential mutations in linkage disequilibrium with the known -5,-8 and -24 polymorphisms, by sequencing upstream through the promotor. ..
  13. HEMOCHROMATOSIS--EPIDEMIOLOGY AND MOLECULAR MECHANISMS
    Ernest Beutler; Fiscal Year: 2001
    ..This will be done by using immunoprecipitating HLA-H containing complexes, determining HLA-H Fc receptor signaling properties and measuring the binding of peptides and other small molecules by HLA-H. ..
  14. FORMATION AND SURVIVAL OF RED BLOOD CELLS
    Ernest Beutler; Fiscal Year: 2001
    ..Should these point mutations fail to alter gene transcription, a search will be made for other potential mutations in linkage disequilibrium with the known -5,-8 and -24 polymorphisms, by sequencing upstream through the promotor. ..
  15. HEMOCHROMATOSIS--EPIDEMIOLOGY AND MOLECULAR MECHANISMS
    Ernest Beutler; Fiscal Year: 2001
    ..This will be done by using immunoprecipitating HLA-H containing complexes, determining HLA-H Fc receptor signaling properties and measuring the binding of peptides and other small molecules by HLA-H. ..