Pauline L Lee

Summary

Affiliation: The Scripps Research Institute
Country: USA

Publications

  1. pmc Common TMPRSS6 mutations and iron, erythrocyte, and pica phenotypes in 48 women with iron deficiency or depletion
    Pauline L Lee
    Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, CA, USA
    Blood Cells Mol Dis 48:124-7. 2012
  2. pmc Severe microcytic anemia but increased erythropoiesis in mice lacking Hfe or Tfr2 and Tmprss6
    Pauline Lee
    The Scripps Research Institute, Department of Molecular and Experimental Medicine, La Jolla, CA, USA
    Blood Cells Mol Dis 48:173-8. 2012
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. pmc Role of matriptase-2 (TMPRSS6) in iron metabolism
    Pauline Lee
    Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, California 92037, USA
    Acta Haematol 122:87-96. 2009
  10. 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

Detail Information

Publications33

  1. pmc Common TMPRSS6 mutations and iron, erythrocyte, and pica phenotypes in 48 women with iron deficiency or depletion
    Pauline L Lee
    Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, CA, USA
    Blood Cells Mol Dis 48:124-7. 2012
    ..We sought to identify relationships of TMPRSS6 K253E, A736V, and Y739Y to iron, erythrocyte, and pica phenotypes in women with iron deficiency or depletion...
  2. pmc Severe microcytic anemia but increased erythropoiesis in mice lacking Hfe or Tfr2 and Tmprss6
    Pauline Lee
    The Scripps Research Institute, Department of Molecular and Experimental Medicine, La Jolla, CA, USA
    Blood Cells Mol Dis 48:173-8. 2012
    ..Furthermore, repression of hepcidin expression by hypoxia was unaffected by the loss of functional Hfe, Tfr2 and Tmprss6...
  3. 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...
  4. 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...
  5. 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...
  6. 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...
  7. 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...
  8. 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...
  9. pmc Role of matriptase-2 (TMPRSS6) in iron metabolism
    Pauline Lee
    Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, California 92037, USA
    Acta Haematol 122:87-96. 2009
    ..In this review, we discuss the putative role of matriptase-2/TMPRSS6 in iron homeostasis...
  10. 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...
  11. 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...
  12. 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...
  13. ncbi The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms
    P L Lee
    Scripps Research Institute, Department of Molecular and Experimental Medicine, La Jolla, CA 92037, USA
    Blood Cells Mol Dis 24:199-215. 1998
    ..These data suggest that mutations in nramp2 are not commonly associated with hemochromatosis...
  14. ncbi The effect of transferrin polymorphisms on iron metabolism
    P L Lee
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 N Torrey Pines, La Jolla, CA 92037, USA
    Blood Cells Mol Dis 25:374-9. 1999
    ..We conclude that these polymorphisms in transferrin do not play a role in the expression of hemochromatosis, nor do they produce any other significant changes in iron metabolism...
  15. ncbi NADH-ferric reductase activity associated with dihydropteridine reductase
    P L Lee
    Department of Molecular and Experimental Medicine, Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, California 92037, USA
    Biochem Biophys Res Commun 271:788-95. 2000
    ..Thus, DHPR appears to be a dual function enzyme, a NADH-dependent dihydopteridine reductase and an iron-regulated, NADH-dependent, pteridine-independent ferric reductase...
  16. ncbi Mutation analysis of the transferrin receptor-2 gene in patients with iron overload
    P L Lee
    Department of Molecular and Experimental Medicine, Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, California 92037, USA
    Blood Cells Mol Dis 27:285-9. 2001
    ..Thus, mutations in the transferrin receptor-2 gene were not responsible for the iron overload seen in our subjects...
  17. ncbi Polymorphisms in the transferrin 5' flanking region associated with differences in total iron binding capacity: possible implications in iron homeostasis
    P L Lee
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, California 92037, USA
    Blood Cells Mol Dis 27:539-48. 2001
    ..In White patients with Parkinson's disease, a disorder in which there is abnormal iron deposition in the brain, the presence of transferrin haplotype 3 was in slight excess over the normal White population...
  18. ncbi Human transferrin G277S mutation: a risk factor for iron deficiency anaemia
    P L Lee
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA
    Br J Haematol 115:329-33. 2001
    ....
  19. ncbi A study of genes that may modulate the expression of hereditary hemochromatosis: transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin
    P L Lee
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, California 92037, USA
    Blood Cells Mol Dis 27:783-802. 2001
    ..These were further examined for association with differences in iron accumulation as measured by plasma transferrin saturation and ferritin levels, but no such association could be documented...
  20. pmc Genetic polymorphisms and susceptibility to lung disease
    Pauline L Lee
    The Scripps Research Institute, Department of Molecular and Experimental Medicine, 10550 North Torrey Pines Road, La Jolla, 92037, USA
    J Negat Results Biomed 5:5. 2006
    ....
  21. ncbi SLC40A1 c.1402G-->a results in aberrant splicing, ferroportin truncation after glycine 330, and an autosomal dominant hemochromatosis phenotype
    Pauline L Lee
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, Calif, USA
    Acta Haematol 118:237-41. 2007
    ..To determine the molecular basis of a mild hemochromatosis phenotype in a man of Scottish-Irish descent...
  22. 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...
  23. ncbi Hemochromatosis and severe iron overload associated with compound heterozygosity for TFR2 R455Q and two novel mutations TFR2 R396X and G792R
    Pauline L Lee
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, California, USA
    Acta Haematol 115:102-5. 2006
    ..The patient did not have coding region mutations in HAMP, FPN1, HJV or ALAS2. We conclude that this patient represents another example of hemochromatosis due to mutations of the gene encoding transferrin receptor 2...
  24. 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...
  25. doi Mild iron overload in an African American man with SLC40A1 D270V
    Pauline L Lee
    Department of Molecular and Experimental Medicine, Scripps Research Institute, University of California San Diego, La Jolla, CA, USA
    Acta Haematol 128:28-32. 2012
    ..0019 (95% confidence interval 0-0.0057). D270V could explain 'classical' ferroportin hemochromatosis phenotypes in some African Americans...
  26. 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...
  27. pmc Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia
    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 44:16-21. 2010
    ..The four children carrying mutations in TMPRSS6 all exhibited inappropriately high urinary hepcidin levels for the degree of iron deficiency...
  28. ncbi Three genes encoding zinc finger proteins on human chromosome 6p21.3: members of a new subclass of the Kruppel gene family containing the conserved SCAN box domain
    P L Lee
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, California 92037, USA
    Genomics 43:191-201. 1997
    ..One of the three polymorphisms, Pro163Leu, is the second proline in a proline cluster (PEPP) in a region separating the SCAN box from the zinc finger motifs...
  29. pmc A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous disease
    A Gorlach
    The Scripps Research Institute, Department of Molecular and Experimental Medicine, La Jolla, California 92037, USA
    J Clin Invest 100:1907-18. 1997
    ....
  30. pmc SLC40A1 Q248H allele frequencies and Q248H-associated risk of non-HFE iron overload in persons of sub-Saharan African descent
    James C Barton
    Southern Iron Disorders Center, G105, 2022 Brookwood Medical Center Drive, Birmingham, AL 35209, USA
    Blood Cells Mol Dis 39:206-11. 2007
    ..Although OR estimates of iron overload in African-Americans and Native Africans with Q248H were greater than unity, the increased OR were not statistically significant...
  31. ncbi Iron overload and prolonged ingestion of iron supplements: clinical features and mutation analysis of hemochromatosis-associated genes in four cases
    James C Barton
    Southern Iron Disorders Center, Birmingham, Alabama, USA
    Am J Hematol 81:760-7. 2006
    ..Therapeutic phlebotomy is feasible and effective, and would prevent complications of iron overload...
  32. ncbi Disparate phenotypic expression of ALAS2 R452H (nt 1407 G --> A) in two brothers, one with severe sideroblastic anemia and iron overload, hepatic cirrhosis, and hepatocellular carcinoma
    James C Barton
    Southern Iron Disorders Center, Birmingham, AL 35209, USA
    Blood Cells Mol Dis 36:342-6. 2006
    ..Possible explanations for the disparate red blood cell and iron phenotypes of the proband and his family members are discussed...
  33. ncbi Iron overload in an African American woman with SS hemoglobinopathy and a promoter mutation in the X-linked erythroid-specific 5-aminolevulinate synthase (ALAS2) gene
    James C Barton
    Southern Iron Disorders Center, Birmingham, AL 35209, USA
    Blood Cells Mol Dis 34:226-8. 2005
    ..The occurrence of anemia and iron overload may be discordant in women heterozygous for ALAS2 mutations...