Genomes and Genes
Pauline L Lee
Affiliation: The Scripps Research Institute
- Lee P, Barton J, Khaw P, Bhattacharjee S, Barton J. Common TMPRSS6 mutations and iron, erythrocyte, and pica phenotypes in 48 women with iron deficiency or depletion. Blood Cells Mol Dis. 2012;48:124-7 pubmed publisher..Frequency of Y739 was greater in women with TS <10%. Mean TS was lower in women with Y739Y. We observed no other significant relationship of TMPRSS6 K253E, A736V, or Y739Y with iron, erythrocyte, or pica phenotypes. ..
- Lee P, Halloran C, Cross A, Beutler E. NADH-ferric reductase activity associated with dihydropteridine reductase. Biochem Biophys Res Commun. 2000;271:788-95 pubmed..Thus, DHPR appears to be a dual function enzyme, a NADH-dependent dihydopteridine reductase and an iron-regulated, NADH-dependent, pteridine-independent ferric reductase. ..
- Lee P, Gelbart T, West C, Halloran C, Beutler E. The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms. Blood Cells Mol Dis. 1998;24:199-215 pubmed..These data suggest that mutations in nramp2 are not commonly associated with hemochromatosis. ..
- Lee P, Gelbart T, West C, Halloran C, Felitti V, Beutler E. 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. 2001;27:783-802 pubmed..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. ..
- Lee P, Barton J, Brandhagen D, Beutler E. Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis. Br J Haematol. 2004;127:224-9 pubmed..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. ..
- Lee P, West C, Crain K, Wang L. Genetic polymorphisms and susceptibility to lung disease. J Negat Results Biomed. 2006;5:5 pubmed....
- Lee P. Role of matriptase-2 (TMPRSS6) in iron metabolism. Acta Haematol. 2009;122:87-96 pubmed publisher..In this review, we discuss the putative role of matriptase-2/TMPRSS6 in iron homeostasis. ..
- Lee P, Halloran C, Trevino R, Felitti V, Beutler E. Human transferrin G277S mutation: a risk factor for iron deficiency anaemia. Br J Haematol. 2001;115:329-33 pubmed....
- Lee P, Gelbart T, West C, Halloran C, Sipe J, Beutler E. Polymorphisms in iron-responsive binding protein 2 and lack of association with sporadic Parkinson's disease. Mov Disord. 2002;17:1302-4 pubmed..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. ..
- Lee P, Barton J, Rao S, Acton R, Adler B, Beutler E. 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. Blood Cells Mol Dis. 2006;36:292-7 pubmed..Thus, ALAS2 mutations might contribute to more severe iron loading in persons with primary hemochromatosis. ..
- Lee P, Hsu M, Welser Alves J, Peng H. Severe microcytic anemia but increased erythropoiesis in mice lacking Hfe or Tfr2 and Tmprss6. Blood Cells Mol Dis. 2012;48:173-8 pubmed publisher..Furthermore, repression of hepcidin expression by hypoxia was unaffected by the loss of functional Hfe, Tfr2 and Tmprss6...