articles
- Heterozygous congenital Factor VII deficiency with the 9729de14 mutation, associated with severe spontaneous intracranial bleeding in an adolescent male. 57:8-12. 2016
- Neurotoxicity of the anticoagulant-selective E149A-activated protein C variant after focal ischemic stroke in mice. 51:104-108. 2013
- Severe microcytic anemia but increased erythropoiesis in mice lacking hfe or tfr2 and tmprss6. 48:173-178. 2012
- Common tmprss6 mutations and iron, erythrocyte, and pica phenotypes in 48 women with iron deficiency or depletion. 48:124-127. 2012
- The familial parkinson's disease gene dj-1 (park7) is expressed in red cells and plays a role in protection against oxidative damage. 45:227-232. 2010
- Polymorphisms and mutations of human tmprss6 in iron deficiency anemia. 44:16-21. 2010
- Severe iron overload with a novel aminolevulinate synthase mutation and hepatitis c infection. A case report. 42:1-4. 2009
- The anemia of ageing is not associated with increased plasma hepcidin levels. 41:252-254. 2008
- Human chitotriosidase polymorphisms g354r and a442v associated with reduced enzyme activity. 39:353-360. 2007
- 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. 39:255-262. 2007
- Slc40a1 q248h allele frequencies and q248h-associated risk of non-hfe iron overload in persons of sub-saharan african descent. 39:206-211. 2007
- In vivo imaging of hepcidin promoter stimulation by iron and inflammation. 38:253-257. 2007
- 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. 36:342-346. 2006
- Platelet interactions with vessel wall components during thrombogenesis. 36:145-147. 2006
- The promise of protein C. 36:211-216. 2006
- 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. 36:292-297. 2006
- 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. 34:226-228. 2005
- Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features. 34:157-161. 2005
- Chronic inflammation does not appear to modify the homozygous hereditary hemochromatosis phenotype. 35:326-327. 2005
- The mitochondrial nt 16189 polymorphism and hereditary hemochromatosis. 33:344-345. 2004
- A single amino acid change in the binding pocket alters specificity of an anti-integrin antibody AP7.4 as revealed by its crystal structure. 32:176-181. 2004
- Ferroportin 1 (SCL40A1) variant associated with iron overload in African-Americans. 31:305-309. 2003
- Recombinant murine-activated protein C is neuroprotective in a murine ischemic stroke model. 30:271-276. 2003
- Penetrance of hemochromatosis. 29:418-432. 2002
- Seeking candidate mutations that affect iron homeostasis. 29:471-487. 2002
- Activated protein C-dependent and -independent anticoagulant activities of protein S have different structural requirements. 29:190-199. 2002
- Low protein Z levels and risk of ischemic stroke: differences by diabetic status and gender. 29:139-144. 2002
- Protein C pathway impairment in nonsymptomatic cigarette smokers. 29:73-82. 2002
- 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. 27:783-802. 2001
- Polymorphisms in the transferrin 5 ' flanking region associated with differences in total iron binding capacity: Possible implications in iron homeostasis. 27:539-548. 2001
- Mutation analysis of the transferrin receptor-2 gene in patients with iron overload. 27:285-289. 2001
- The hfe gene of browsing and grazing rhinoceroses: A possible site of adaptation to a low-iron diet. 27:342-350. 2001
- Tissue- and epitope-specific mechanisms account for the diverse effects of anti-CD44 antibodies on the maintenance of primitive hematopoietic progenitors in vitro. 26:291-302. 2000
- Gamma heavy chain disease in man: Independent structural abnormalities and reduced transcription of a functionally rearranged lambda L-chain gene result in the absence of L-chains. 26:177-185. 2000
- Cardiolipin enhances protein C pathway anticoagulant activity. 26:115-123. 2000
- Genomic structure of the human p47-phox (ncf1) gene. 26:37-46. 2000
- The effect of transferrin polymorphisms on iron metabolism. 25:374-379. 1999
- Analysis of Tlr4-mediated LPS signal transduction in macrophages by mutational modification of the receptor. 25:328-338. 1999
- Homology models of the C domains of blood coagulation factors V and VIII: A proposed membrane binding mode for FV and FVIII C2 domains. 24:448-461. 1998
- alpha2- macroglobulin and C1-inactivator are plasma inhibitors of human glandular kallikrein. 24:412-419. 1998
- Genetic and physical mapping of the Lps locus: Identification of the Toll-4 receptor as a candidate gene in the critical region. 24:340-355. 1998
- TNF, apoptosis and autoimmunity: a common thread?. 24:216-230. 1998
- The human nramp2 gene: Characterization of the gene structure, alternative splicing, promoter region and polymorphisms. 24:199-215. 1998
- Involvement of amino acid residues 423-429 of human protein S in binding to C4b-binding protein. 24:101-113. 1998
- Crystal structure of NMC-4 fab anti-von Willebrand factor A1 domain. 23:123-134. 1997
- Cloning of the murine platelet glycoprotein Ib alpha gene highlighting species-specific platelet adhesion. 23:292-301. 1997
- Selective interaction of a conformationally-constrained Arg-Gly-Asp (RGD) motif with the integrin receptor alpha v beta 3 expressed on human tumor cells. 23:230-241. 1997
- Multicentric epithelioid angiosarcoma of the bone. Pitfalls in clinical and morphological diagnosis. 22:205-213. 1996
- Mutation analysis in hereditary hemochromatosis. 22:187-194. 1996
- A strategy for cloning the hereditary hemochromatosis gene. 21:207-216. 1995
- Platelet microparticles bind, activate and aggregate neutrophils in vitro - Commentary. 21:A231-A231. 1995
- The clinical course of treated and untreated Gaucher disease. A study of 45 patients.. 21:86-108. 1995