Physician
Hematology
Dr. James P. Kushner, MD
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James Kushner practices Hematology. He went to University of Pittsburgh School of Medicine. James Kushner is a published doctor. He has 98 papers published. The most current publication "An inherited enzymatic defect in porphyria cutanea tarda: decreased uroporphyrinogen decarboxylase activity."
Publications
- Anti-obesity and pro-diabetic effects of hemochromatosis.
- Uroporphyria in the Cyp1a2-/- mouse.
- Hepcidin mediates transcriptional changes that modulate acute cytokine-induced inflammatory responses in mice.
- Reconstitution of normal hepcidin expression in Hfe-deficient mice after liver transplantation: a new role of HFE in Kupffer cells?
- 2 out of 3 isn't bad.
- Toll-like receptors mediate induction of hepcidin in mice infected with Borrelia burgdorferi.
- Reduction of porphyrins to porphyrinogens with palladium on carbon.
- Down-regulation of hepcidin in porphyria cutanea tarda.
- The hepcidin-binding site on ferroportin is evolutionarily conserved.
- Increased glucose disposal and AMP-dependent kinase signaling in a mouse model of hemochromatosis.
- Zebrafish as a model for defining the functional impact of mammalian ferroportin mutations.
- Mapping genes responsible for strain-specific iron phenotypes in murine chromosome substitution strains.
- A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tarda.
- Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria.
- Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP).
- Gene expression patterns that correlate with hepatitis C and early progression to fibrosis in liver transplant recipients.
- Fast track to the porphyrias.
- Identification of a novel mutation in the L-ferritin IRE leading to hereditary hyperferritinemia-cataract syndrome.
- Recommendations for the diagnosis and treatment of the acute porphyrias.
- Oxidative stress, beta-cell apoptosis, and decreased insulin secretory capacity in mouse models of hemochromatosis.
- Identification of a novel mutation (C321X) in HJV.
- Crystal structure of the oxygen-dependant coproporphyrinogen oxidase (Hem13p) of Saccharomyces cerevisiae.
- A method for detecting recent selection in the human genome from allele age estimates.
- Clinical consequences of iron overload in hemochromatosis homozygotes.
- Uroporphyria in the uroporphyrinogen decarboxylase-deficient mouse: Interplay with siderosis and polychlorinated biphenyl exposure.
- Introduction: hereditary disorders of iron metabolism.
- Regulation of iron absorption in Hfe mutant mice.
- Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis.
- Maintaining iron balance in women blood donors of childbearing age: summary of a workshop.
- Paediatric non-Hodgkin''s lymphomas: The Children''s Cancer Study Group experience. An interim report.
- Biosynthesis of porphyrin precursors. Purification and characterization of mammalian L-alanine:gamma,delta-dioxovaleric acid aminotransferase.
- The effect of glyoxalase I on the metabolism of 4,5-dioxovaleric acid.
- Laboratory diagnosis of the porphyrias.
- Biosynthesis of porphyrin precursors: kinetic studies on mammalian L-alanine: gamma,delta-dioxovaleric acid aminotransferase.
- Purification and characterization of bovine hepatic uroporphyrinogen decarboxylase.
- Design, synthesis, and biological evaluation of analogues of the antitumor agent, 2-(4-[(7-chloro-2-quinoxalinyl)oxy]phenoxy)propionic acid (XK469).
- Late-onset hereditary Anemia: why the delay?
- Idiopathic refractory sideroblastic Anemia: clinical and laboratory investigation of 17 patients and review of the literature.
- Porphyria cutanea tarda associated with disinfectant misuse.
- Sideroblastic Anemia.
- Cytologic diagnosis and monitoring of Hodgkin's disease in cerebrospinal fluid: a case report.
- Successful treatment of a cardiac angiosarcoma with combined modality therapy.
- The enzymatic decarboxylation of the naturally occurring isomers of uroporphyrinogen by human erythrocytes.
- Prevalence of the 281 (Gly----Glu) mutation in hepatoerythropoietic porphyria and porphyria cutanea tarda.
- Assignment of uroporphyrinogen decarboxylase (UROD) to the pter----p21 region of human chromosome 1.
- Identification of amino acid changes affecting yeast uroporphyrinogen decarboxylase activity by sequence analysis of hem12 mutant alleles.
- The enzymatic defects in porphyria cutanea tarda and variegate porphyria.
- The enzymatic defect in porphyria cutanea tarda.
- Porphyria cutanea tarda in three generations of a single family.
- High-performance liquid chromatography of porphyrin esters. Identification of mixed esters generated in sample preparation.
- Evidence for cytokine-inducible nitric oxide synthesis from L-arginine in patients receiving interleukin-2 therapy.
- Regulation of HeLa cell transferrin receptors.
- Internalization and subcellular localization of transferrin and transferrin receptors in HeLa cells.
- Uroporphyrinogen decarboxylase. A method for measuring enzyme activity.
- Transferrin receptors of human fibroblasts. Analysis of receptor properties and regulation.
- Mining the genome for iron.
- Thermostable erythrocyte rosette-forming lymphocytes in hereditary hemochromatosis. I. Identification in peripheral blood.
- Disorders of excess iron.
- Hereditary haemochromatosis.
- Preserving the national blood supply.
- Biosynthesis of porphyrins and heme from gamma, delta-dioxovalerate by intact hepatocytes.
- Molecular cloning and nucleotide sequence of a complete human uroporphyrinogen decarboxylase cDNA.
- Biosynthesis of 5-aminolevulinic acid and heme from 4,5-dioxovalerate in the rat.
- The HLA class I locus: analysis of RFLPs in hereditary hemochromatosis.
- The role of iron in the pathogenesis of porphyria cutanea tarda. II. Inhibition of uroporphyrinogen decarboxylase.
- The role of iron in the pathogenesis of porphyria cutanea tarda. An in vitro model.
- Hepatic siderosis and porphyria cutanea tarda: relation of iron excess to the metabolic defect.
- Transferrin receptor function in hereditary hemochromatosis.
- An inherited enzymatic defect in porphyria cutanea tarda: decreased uroporphyrinogen decarboxylase activity.
- Neonatal hemochromatosis. Genetic analysis of transferrin-receptor, H-apoferritin, and L-apoferritin loci and of the human leukocyte antigen class I region.
- Allelic association under map error and recombinational heterogeneity: a tale of two sites.
- Regulation of the distribution of tissue iron. Lessons learned from the hypotransferrinemic mouse.
- Hereditary hemochromatosis: contributions of genetic analyses.
- Hereditary hemochromatosis. Analysis of laboratory expression of the disease by genotype in 18 pedigrees.
- Thyroid disease in hemochromatosis. Increased incidence in homozygous men.
- Blood lead concentrations in hereditary hemochromatosis.
- Structural and kinetic characterization of mutant human uroporphyrinogen decarboxylases.
- Mapping the locus for hereditary hemochromatosis: localization between HLA-B and HLA-A.
- Coincidental hemochromatosis and viral hepatitis.
- Uroporphyrinogen decarboxylase in Saccharomyces cerevisiae. HEM12 gene sequence and evidence for two conserved glycines essential for enzymatic activity.
- Steady-state levels of uroporphyrinogen decarboxylase mRNA in lymphoblastoid cell lines from patients with familial porphyria cutanea tarda and their relatives.
- Familial porphyria cutanea tarda: hybridization analysis of the uroporphyrinogen decarboxylase locus.
- Southern blood club symposium: an update on selected aspects of hemochromatosis.
- Mapping recombinant events with molecular markers in hemochromatosis pedigrees.
- Haplotype analysis of hemochromatosis: evaluation of different linkage-disequilibrium approaches and evolution of disease chromosomes.
- Recombinations defining centromeric and telomeric borders for the hereditary haemochromatosis locus.
- Twenty-four hour variation of transferrin saturation in treated and untreated haemochromatosis homozygotes.
- Homogeneous multiplex genotyping of hemochromatosis mutations with fluorescent hybridization probes.
- Prevalence of heterozygotes for hemochromatosis in the white population of the United States.
- Iron overload in hereditary spherocytosis: association with HLA-linked hemochromatosis.
- Screening for hemochromatosis in healthy blood donors. Preliminary results.
- Prevalence of hemochromatosis among 11,065 presumably healthy blood donors.
- Longitudinal study of a mouse model of familial porphyria cutanea tarda.
- Heme regulation of HeLa cell transferrin receptor number.
- Tissue distribution and clearance kinetics of non-transferrin-bound iron in the hypotransferrinemic mouse: a rodent model for hemochromatosis.
- The heme biosynthesis pathway and clinical manifestations of abnormal function.
- Measurement of uroporphyrinogen decarboxylase activity.
Schools
University of Pittsburgh Main Campus
Presby St Lukes Hospital
Presby University Hospital
University of Utah
Conditions Treated
- Anemia
- Immune Thrombocytopenic Purpura (ITP)
- Myeloma
- Thrombocytosis
Doctors Specialties
- Hematology
- Medical Oncology
- Oncology
Accepted Insurances
Education
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University of Pittsburgh Medical Center -
Rush University Medical Center -
University of Pittsburgh School of Medicine
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