John D. Phillips

John D. Phillips, PhD

Languages spoken: English

Academic Information

Departments Primary - Internal Medicine

Divisions: Hematology & Hematologic Malignancies

John D. Phillips, Ph.D. is a Professor in the Division of Hematology and Hematologic Malignancies, Department of Internal Medicine at the University of Utah. His primary research focuses on the porphyria and porphyrin biosynthesis. Additionally, Dr. Phillips also has interests in specific T-cell responses to malignancies, birth tissue products, stem cells and exosomes for clinical use. Dr. Phillips obtained his B.S. from University of New Hampshire, and then his Ph.D. from Dartmouth College.

Education History

Undergraduate University of New Hampshire
 BS
Doctoral Training Dartmouth College
 PhD
Research Fellow University of Utah
 Postdoctoral Research Fellow

Selected Publications

Journal Article

  1. Wang L, He F, Bu J, Zhen Y, Liu X, Du W, Dong J, Cooney JD, Dubey SK, Shi Y, Gong B, Li J, McBride PF, Jia Y, Lu F, Soltis KA, Lin Y, Namburi P, Liang C, Sundaresan P, Paw BH, Li W, Li DY, Phillips JD, Yang Z (2012). ABCB6 mutations cause ocular coloboma. Am J Hum Genet, 90(1), 40-8. (Read full article)
  2. Boynton TO, Gerdes S, Craven SH, Neidle EL, Phillips JD, Dailey H (2011). Discovery of a gene involved in a third bacterial protoporphyrinogen oxidase activity through comparative genomic analysis and functional complementation. Applied and environmental microbiology, 77(14), 4795-801. (Read full article)
  3. Franklin MR, Phillips JD, Kushner J (2000). CYP3A-inducing agents and the attenuation of uroporphyrin accumulation and excretion in a rat model of porphyria cutanea tarda. Biochemical pharmacology, 60(9), 1325-31. (Read full article)
  4. Phillips JD, Guo B, Yu Y, Brown FM, Leibold E (1996). Expression and biochemical characterization of iron regulatory proteins 1 and 2 in Saccharomyces cerevisiae. Biochemistry, 35(49), 15704-14. (Read full article)
  5. Schubert HL, Phillips JD, Hill C (2003). Structures along the catalytic pathway of PrmC/HemK, an N5-glutamine AdoMet-dependent methyltransferase. Biochemistry, 42(19), 5592-9. (Read full article)
  6. Wyckoff EE, Phillips JD, Sowa AM, Franklin MR, Kushner J (1996). Mutational analysis of human uroporphyrinogen decarboxylase. Biochimica et biophysica acta, 1298(2), 294-304. (Read full article)
  7. Troadec MB, Warner D, Wallace J, Thomas K, Spangrude GJ, Phillips JD, Khalimonchuk O, Paw BH, Ward DM, Kaplan (2011). Targeted deletion of the mouse Mitoferrin1 gene: from anemia to protoporphyria. Blood, 117(20), 5494-5502.
  8. Phillips JD, Kinikini DV, Yu Y, Guo B, Leibold E (1996). Differential regulation of IRP1 and IRP2 by nitric oxide in rat hepatoma cells. Blood, 87(7), 2983-92. (Read full article)
  9. Bulaj ZJ, Phillips JD, Ajioka RS, Franklin MR, Griffen LM, Guinee DJ, Edwards CQ, Kushner J (2000). Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda. Blood, 95(5), 1565-71. (Read full article)
  10. Phillips JD, Parker TL, Schubert HL, Whitby FG, Hill CP, Kushner J (2001). Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase. Blood, 98(12), 3179-85. (Read full article)
  11. To-Figueras J, Phillips JD, Gonzalez-López JM, Badenas C, Madrigal I, González-Romarís EM, Ramos C, Aguirre JM, Herrero (2011). Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene. The British journal of dermatology, 165(3), 499-505. (Read full article)
  12. Arch DD, Bergeron M, Hathaway L, Kushner JP, Phillips JD, Franklin M (2009). Longitudinal study of a mouse model of familial porphyria cutanea tarda. Cellular and molecular biology (Noisy-le-Grand, France), 55(2), 46-54. (Read full article)
  13. Phillips JD, Whitby FG, Kushner JP, Hill C (1997). Characterization and crystallization of human uroporphyrinogen decarboxylase. Protein science, 6(6), 1343-6. (Read full article)
  14. Yasuda M, Gan L, Chen B, Yu C, Zhang J, Gama-Sosa MA, Pollak DD, Berger S, Phillips JD, Edelmann W, Desnick R (2019). Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria. Human molecular genetics, 28(11), 1755-1767. (Read full article)
  15. Schubert HL, Raux E, Matthews MA, Phillips JD, Wilson KS, Hill CP, Warren M (2002). Structural diversity in metal ion chelation and the structure of uroporphyrinogen III synthase. Biochemical Society transactions, 30(4), 595-600. (Read full article)
  16. Whitby FG, Phillips JD, Kushner JP, Hill C (1998). Crystal structure of human uroporphyrinogen decarboxylase. The EMBO journal, 17(9), 2463-71. (Read full article)
  17. Mathews MA, Schubert HL, Whitby FG, Alexander KJ, Schadick K, Bergonia HA, Phillips JD, Hill C (2001). Crystal structure of human uroporphyrinogen III synthase. The EMBO journal, 20(21), 5832-9. (Read full article)
  18. Phillips JD, Whitby FG, Kushner JP, Hill C (2003). Structural basis for tetrapyrrole coordination by uroporphyrinogen decarboxylase. The EMBO journal, 22(23), 6225-33. (Read full article)
  19. Saberi B, Naik H, Overbey JR, Erwin AL, Anderson KE, Bissell DM, Bonkovsky HL, Phillips JD, Wang B, K Singal A, M McGuire B, Desnick RJ, Balwani (2021). Hepatocellular Carcinoma in Acute Hepatic Porphyrias: Results from the Longitudinal Study of the U.S. Porphyrias Consortium. Hepatology (Baltimore, Md.), 73(5), 1736-1746. (Read full article)
  20. Gouya L, Ventura P, Balwani M, Bissell DM, Rees DC, Stölzel U, Phillips JD, Kauppinen R, Langendonk JG, Desnick RJ, Deybach JC, Bonkovsky HL, Parker C, Naik H, Badminton M, Stein PE, Minder E, Windyga J, Bruha R, Cappellini MD, Sardh E, Harper P, Sandberg S, Aarsand AK, Andersen J, Alegre F, Ivanova A, Talbi N, Chan A, Querbes W, Ko J, Penz C, Liu S, Lin T, Simon A, Anderson K (2020). EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks. Hepatology (Baltimore, Md.), 71(5), 1546-1558. (Read full article)
  21. Franklin MR, Phillips JD, Kushner J (2002). Uroporphyria in the uroporphyrinogen decarboxylase-deficient mouse: Interplay with siderosis and polychlorinated biphenyl exposure. Hepatology (Baltimore, Md.), 36(4 Pt 1), 805-11. (Read full article)
  22. Phillips JD, Whitby FG, Warby CA, Labbe P, Yang C, Pflugrath JW, Ferrara JD, Robinson H, Kushner JP, Hill C (2004). Crystal Structure of the Oxygen-dependent Coproporphyrinogen Oxidase (Hem13p) of Saccharomyces cerevisiae. The Journal of biological chemistry, 279, 38960-38968.
  23. Seguin A, Jia X, Earl AM, Li L, Wallace J, Qiu A, Bradley T, Shrestha R, Troadec MB, Hockin M, Titen S, Warner DE, Dowdle PT, Wohlfahrt ME, Hillas E, Firpo MA, Phillips JD, Kaplan J, Paw BH, Barasch J, Ward D (2020). The mitochondrial metal transporters mitoferrin1 and mitoferrin2 are required for liver regeneration and cell proliferation in mice. The Journal of biological chemistry, 295(32), 11002-11020. (Read full article)
  24. Yien YY, Shi J, Chen C, Cheung JTM, Grillo AS, Shrestha R, Li L, Zhang X, Kafina MD, Kingsley PD, King MJ, Ablain J, Li H, Zon LI, Palis J, Burke MD, Bauer DE, Orkin SH, Koehler CM, Phillips JD, Kaplan J, Ward DM, Lodish HF, Paw B (2018). FAM210B is an erythropoietin target and regulates erythroid heme synthesis by controlling mitochondrial iron import and ferrochelatase activity. The Journal of biological chemistry, 293(51), 19797-19811. (Read full article)
  25. Phillips JD, Whitby FG, Warby CA, Labbe P, Yang C, Pflugrath JW, Ferrara JD, Robinson H, Kushner JP, Hill C (2004). Crystal structure of the oxygen-dependant coproporphyrinogen oxidase (Hem13p) of Saccharomyces cerevisiae. The Journal of biological chemistry, 279(37), 38960-8. (Read full article)
  26. Guo B, Brown FM, Phillips JD, Yu Y, Leibold E (1995). Characterization and expression of iron regulatory protein 2 (IRP2). Presence of multiple IRP2 transcripts regulated by intracellular iron levels. The Journal of biological chemistry, 270(28), 16529-35. (Read full article)
  27. Guo B, Phillips JD, Yu Y, Leibold E (1995). Iron regulates the intracellular degradation of iron regulatory protein 2 by the proteasome. The Journal of biological chemistry, 270(37), 21645-51. (Read full article)
  28. Rondelli CM, Perfetto M, Danoff A, Bergonia H, Gillis S, O'Neill L, Jackson L, Nicolas G, Puy H, West R, Phillips JD, Yien Y (2021). The ubiquitous mitochondrial protein unfoldase CLPX regulates erythroid heme synthesis by control of iron utilization and heme synthesis enzyme activation and turnover. The Journal of biological chemistry, 297(2), 100972. (Read full article)
  29. Yien YY, Robledo RF, Schultz IJ, Takahashi-Makise N, Gwynn B, Bauer DE, Dass A, Yi G, Li L, Hildick-Smith GJ, Cooney JD, Pierce EL, Mohler K, Dailey TA, Miyata N, Kingsley PD, Garone C, Hattangadi SM, Huang H, Chen W, Keenan EM, Shah DI, Schlaeger TM, DiMauro S, Orkin SH, Cantor AB, Palis J, Koehler CM, Lodish HF, Kaplan J, Ward DM, Dailey HA, Phillips JD, Peters LL, Paw B (2014). TMEM14C is required for erythroid mitochondrial heme metabolism. The Journal of clinical investigation, 124(10), 4294-304. (Read full article)
  30. Bulaj ZJ, Franklin MR, Phillips JD, Miller KL, Bergonia HA, Ajioka RS, Griffen LM, Guinee DJ, Edwards CQ, Kushner J (2000). Transdermal estrogen replacement therapy in postmenopausal women previously treated for porphyria cutanea tarda. The Journal of laboratory and clinical medicine, 136(6), 482-8. (Read full article)
  31. Whitby FG, Phillips JD, Hill CP, McCoubrey W, Maines M (2002). Crystal structure of a biliverdin IXalpha reductase enzyme-cofactor complex. Journal of molecular biology, 319(5), 1199-210. (Read full article)
  32. Chen B, Solis-Villa C, Erwin AL, Balwani M, Nazarenko I, Phillips JD, Desnick RJ, Yasuda (2019). Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria. Journal of inherited metabolic disease, 42(1), 186-194. (Read full article)
  33. Bulaj ZJ, Ajioka RS, Phillips JD, LaSalle BA, Jorde LB, Griffen LM, Edwards CQ, Kushner J (2000). Disease-related conditions in relatives of patients with hemochromatosis. The New England journal of medicine, 343(21), 1529-35. (Read full article)
  34. Phillips JD, Jackson LK, Bunting M, Franklin MR, Thomas KR, Levy JE, Andrews NC, Kushner J (2001). A mouse model of familial porphyria cutanea tarda. Proceedings of the National Academy of Sciences of the United States of America, 98(1), 259-64. (Read full article)
  35. Franklin MR, Phillips JD, Kushner J (1997). Cytochrome P450 induction, uroporphyrinogen decarboxylase depression, porphyrin accumulation and excretion, and gender influence in a 3-week rat model of porphyria cutanea tarda. Toxicology and applied pharmacology, 147(2), 289-99. (Read full article)
  36. Lorenzo FR 5th, Phillips JD, Nussenzveig R, Lingam B, Koul PA, Schrier SL, Prchal J (2011). Molecular basis of two novel mutations found in type I methemoglobinemia. Blood cells, molecules & diseases, 46(4), 277-81. (Read full article)
  37. Phillips JD, Kushner JP, Bergonia HA, Franklin M (2011). Uroporphyria in the Cyp1a2-/- mouse. Blood cells, molecules & diseases, 47(4), 249-54. (Read full article)
  38. Balwani M, Doheny D, Bishop DF, Nazarenko I, Yasuda M, Dailey HA, Anderson KE, Bissell DM, Bloomer J, Bonkovsky HL, Phillips JD, Liu L, Desnick RJ, Porphyrias Consortium of the National Institutes of Health Rare Diseases Clinical Research Network (2013). Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria. Molecular medicine (Cambridge, Mass.), 19, 26-35. (Read full article)
  39. Franklin MR, Phillips JD, Kushner J (2001). Accelerated development of uroporphyria in mice heterozygous for a deletion at the uroporphyrinogen decarboxylase locus. Journal of biochemical and molecular toxicology, 15(5), 287-93. (Read full article)
  40. Phillips J (2019). Heme biosynthesis and the porphyrias. Molecular genetics and metabolism, 128(3), 164-177. (Read full article)
  41. Parker CJ, Desnick RJ, Bissel MD, Bloomer JR, Singal A, Gouya L, Puy H, Anderson KE, Balwani M, Phillips J (2019). Results of a pilot study of isoniazid in patients with erythropoietic protoporphyria. Molecular genetics and metabolism, 128(3), 309-313. (Read full article)
  42. Crowther MD, Dolton G, Legut M, Caillaud ME, Lloyd A, Attaf M, Galloway SAE, Rius C, Farrell CP, Szomolay B, Ager A, Parker AL, Fuller A, Donia M, McCluskey J, Rossjohn J, Svane IM, Phillips JD, Sewell A (2020). Genome-wide CRISPR-Cas9 screening reveals ubiquitous T cell cancer targeting via the monomorphic MHC class I-related protein MR1. Nature immunology, 21(2), 178-185. (Read full article)
  43. Crowther MD, Dolton G, Legut M, Caillaud ME, Lloyd A, Attaf M, Galloway SAE, Rius C, Farrell CP, Szomolay B, Ager A, Parker AL, Fuller A, Donia M, McCluskey J, Rossjohn J, Svane IM, Phillips JD, Sewell A (2020). Author Correction: Genome-wide CRISPR-Cas9 screening reveals ubiquitous T cell cancer targeting via the monomorphic MHC class I-related protein MR1. Nature immunology, 21(6), 695. (Read full article)
  44. Chalermwat C, Thosapornvichai T, Wongkittichote P, Phillips JD, Cox JE, Jensen AN, Wattanasirichaigoon D, Jensen L (2019). Overexpression of the peroxin Pex34p suppresses impaired acetate utilization in yeast lacking the mitochondrial aspartate/glutamate carrier Agc1p. FEMS yeast research, 19(8), (Read full article)
  45. Naik H, Overbey JR, Montgomery GH, Winkel G, Balwani M, Anderson KE, Bissell DM, Bonkovsky HL, Phillips JD, Wang B, McGuire B, Keel S, Levy C, Erwin A, Desnick R (2020). Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria. Genetics in medicine, 22(3), 590-597. (Read full article)
  46. Chen B, Whatley S, Badminton M, Aarsand AK, Anderson KE, Bissell DM, Bonkovsky HL, Cappellini MD, Floderus Y, Friesema ECH, Gouya L, Harper P, Kauppinen R, Loskove Y, Martásek P, Phillips JD, Puy H, Sandberg S, Schmitt C, To-Figueras J, Weiss Y, Yasuda M, Deybach JC, Desnick R (2019). International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias. Genetics in medicine, 21(11), 2605-2613. (Read full article)
  47. Huang Z, Chen K, Xu T, Zhang J, Li Y, Li W, Agarwal AK, Clark AM, Phillips JD, Pan (2011). Sampangine inhibits heme biosynthesis in both yeast and human. Eukaryotic cell, 10(11), 1536-44. (Read full article)
  48. Phillips JD, Warby CA, Kushner J (2005). Identification of a novel mutation in the L-ferritin IRE leading to hereditary hyperferritinemia-cataract syndrome. American journal of medical genetics. Part A, 134A(1), 77-9. (Read full article)
  49. Selzman CH, Tonna JE, Pierce J, Vargas C, Skidmore C, Lewis G, Hatton ND, Phillips J (2021). A pilot trial of human amniotic fluid for the treatment of COVID-19. BMC research notes, 14(1), 32. (Read full article)
  50. Dailey HA, Septer AN, Daugherty L, Thames D, Gerdes S, Stabb EV, Dunn AK, Dailey TA, Phillips J (2011). The Escherichia coli protein YfeX functions as a porphyrinogen oxidase, not a heme dechelatase. mBio, 2(6), e00248-11. (Read full article)
  51. Tonna JE, Pierce J, Hatton N, Lewis G, Phillips JD, Messina A, Skidmore CR, Taylor K, Selzman C (2021). Safety and feasibility of using acellular sterile filtered amniotic fluid as a treatment for patients with COVID-19: protocol for a randomised, double-blinded, placebo-controlled clinical trial. BMJ open, 11(2), e045162. (Read full article)
  52. Naik H, Overbey JR, Desnick RJ, Anderson KE, Bissell DM, Bloomer J, Bonkovsky HL, Phillips JD, Wang B, Singal A, Balwani (2019). Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X-linked protoporphyria. JIMD reports, 50(1), 9-19. (Read full article)
  53. Pek RH, Yuan X, Rietzschel N, Zhang J, Jackson L, Nishibori E, Ribeiro A, Simmons W, Jagadeesh J, Sugimoto H, Alam MZ, Garrett L, Haldar M, Ralle M, Phillips JD, Bodine DM, Hamza (2019). Hemozoin produced by mammals confers heme tolerance. eLife, 8, (Read full article)
  54. Gou E, Weng C, Greene T, Anderson KE, Phillips J (2018). Longitudinal Analysis of Erythrocyte and Plasma Protoporphyrin Levels in Patients with Protoporphyria. The journal of applied laboratory medicine, 3(2), 213-221. (Read full article)

Case Report

  1. Moghe A, Ramanujam VMS, Phillips JD, Desnick RJ, Anderson K (2019). Harderoporphyria: Case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase (CPOX) mutations. Molecular genetics and metabolism reports, 19, 100457. (Read full article)

Letter

  1. Wang B, Balwani M, Bonkovsky HL, Anderson KE, Bloomer JR, Bissell DM, Phillips JD, Desnick RJ, Porphyrias Consortium of the Rare Diseases Clinical Research Network (2018). Reply. Hepatology (Baltimore, Md.), 67(2), 803-804. (Read full article)