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Walter Miller, MD

Title(s)Professor Emeritus, Pediatrics
SchoolSchool of Medicine
Phone415-476-2598
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    Collapse Biography 
    Collapse Education and Training
    University of California, San FranciscoResidency School of Medicine

    Collapse Research 
    Collapse Research Activities and Funding
    Pharmacogenomics of Human P450 Oxidoreductase
    NIH/NIGMS R01GM073020Feb 1, 2005 - Sep 3, 2009
    Role: Principal Investigator
    ANDROGEN PRODUCTION IN ADRENARCHE AND PCOS
    NIH/NICHD R01HD041958Apr 1, 2002 - Mar 31, 2007
    Role: Principal Investigator
    Molecular Biology of Steroidogenic P450 Enzymes
    NIH/NIDDK R01DK037922Jul 1, 1994 - Oct 31, 2006
    Role: Principal Investigator
    MOLECULAR REGULATION OF STEROIDOGENESIS
    NIH/NIDDK R01DK042154Jan 1, 1990 - Mar 31, 2001
    Role: Principal Investigator
    UNIQUE BIOASSAY SCREENING FOR STEROIDOGENIC ENZYME CLONE
    NIH/NIDDK R03DK037775Sep 1, 1986 - Aug 31, 1987
    Role: Principal Investigator
    Bio-Organic Biomedical Mass Spectrometry Resource
    NIH P41RR001614Mar 1, 1982 - May 31, 2015
    Role: Co-Investigator
    MOLECULAR BASES OF CONGENITAL ADRENAL HYPERPLASIAS
    NIH/NICHD R01HD016047Jan 1, 1982 - Dec 31, 1985
    Role: Principal Investigator
    Training Program in Pediatric Endocrinology
    NIH/NIDDK T32DK007161Jul 1, 1976 - Jun 30, 2021
    Role: Co-Principal Investigator
    Resource for Biocomputing, Visualization, and Informatics
    NIH/NCRR P41RR001081Jun 1, 1976 - Sep 14, 2012
    Role: Co-Investigator

    Collapse ORNG Applications 
    Collapse Websites

    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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    1. Miller WL. Congenital Adrenal Hyperplasia: Time to Replace 17OHP with 21-Deoxycortisol. Horm Res Paediatr. 2019; 91(6):416-420. PMID: 31450227.
      View in: PubMed
    2. Speiser PW, Auchus RJ, Merke DP, Miller WL, White PC. Response to Letter to the Editor: "Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline". J Clin Endocrinol Metab. 2019 06 01; 104(6):1928. PMID: 30561699.
      View in: PubMed
    3. Miller WL, Auchus RJ. The "backdoor pathway" of androgen synthesis in human male sexual development. PLoS Biol. 2019 04; 17(4):e3000198. PMID: 30943210.
      View in: PubMed
    4. Speiser PW, Arlt W, Auchus RJ, Baskin LS, Conway GS, Merke DP, Meyer-Bahlburg HFL, Miller WL, Murad MH, Oberfield SE, White PC. Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2018 11 01; 103(11):4043-4088. PMID: 30272171.
      View in: PubMed
    5. Miller WL. MECHANISMS IN ENDOCRINOLOGY: Rare defects in adrenal steroidogenesis. Eur J Endocrinol. 2018 Sep; 179(3):R125-R141. PMID: 29880708.
      View in: PubMed
    6. Miller WL, Merke DP. Tenascin-X, Congenital Adrenal Hyperplasia, and the CAH-X Syndrome. Horm Res Paediatr. 2018; 89(5):352-361. PMID: 29734195.
      View in: PubMed
    7. Miller WL. The Hypothalamic-Pituitary-Adrenal Axis: A Brief History. Horm Res Paediatr. 2018; 89(4):212-223. PMID: 29719288.
      View in: PubMed
    8. Miller WL. Steroidogenesis: Unanswered Questions. Trends Endocrinol Metab. 2017 11; 28(11):771-793. PMID: 29031608.
      View in: PubMed
    9. Miller WL. Melvin M. Grumbach, MD, 1925-2016?. Horm Res Paediatr. 2017; 87(4):283-286. PMID: 28365711.
      View in: PubMed
    10. Miller WL. In Memoriam: Melvin M. Grumbach, MD, (1925-2016) Pediatric Endocrinologist, Scientist, Educator, Leader. Pediatr Endocrinol Rev. 2017 Mar; 14(3):96-102. PMID: 28508597.
      View in: PubMed
    11. Miller WL. In Memoriam: Melvin M. Grumbach (1925-2016). Endocrinology. 2016 12; 157(12):4499-4501. PMID: 27911151.
      View in: PubMed
    12. Miller WL. In Memoriam: Melvin M. Grumbach (1925-2016). Endocr Rev. 2016 12; 37(6):549-551. PMID: 27915503.
      View in: PubMed
    13. Miller WL. Introduction to the 2016 Keith L. Parker Memorial Lecturer: Douglas M. Stocco, Ph.D. Mol Cell Endocrinol. 2017 02 05; 441:2-6. PMID: 27345241.
      View in: PubMed
    14. Tee MK, Speek M, Legeza B, Modi B, Teves ME, McAllister JM, Strauss JF, Miller WL. Alternative splicing of DENND1A, a PCOS candidate gene, generates variant 2. Mol Cell Endocrinol. 2016 10 15; 434:25-35. PMID: 27297658.
      View in: PubMed
    15. Miller WL. Genetic disorders of Vitamin D biosynthesis and degradation. J Steroid Biochem Mol Biol. 2017 01; 165(Pt A):101-108. PMID: 27060335.
      View in: PubMed
    16. Else T, Auchus RJ, Miller WL. Adrenocortical carcinoma in a 17th-century girl. J Steroid Biochem Mol Biol. 2017 01; 165(Pt A):109-113. PMID: 26960202.
      View in: PubMed
    17. Miller WL. Disorders in the initial steps of steroid hormone synthesis. J Steroid Biochem Mol Biol. 2017 01; 165(Pt A):18-37. PMID: 26960203.
      View in: PubMed
    18. Miller WL, Chung BC. The First Defect in Electron Transfer to Mitochondrial P450 Enzymes. Endocrinology. 2016 Mar; 157(3):1003-6. PMID: 26919515.
      View in: PubMed
    19. Jin Y, Chen M, Penning TM, Miller WL. Electron transfer by human wild-type and A287P mutant P450 oxidoreductase assessed by transient kinetics: functional basis of P450 oxidoreductase deficiency. Biochem J. 2015 May 15; 468(1):25-31. PMID: 25728647.
      View in: PubMed
    20. Delle Piane L, Rinaudo PF, Miller WL. 150 years of congenital adrenal hyperplasia: translation and commentary of De Crecchio's classic paper from 1865. Endocrinology. 2015 Apr; 156(4):1210-7. PMID: 25635623.
      View in: PubMed
    21. Miller WL. Fetal endocrine therapy for congenital adrenal hyperplasia should not be done. Best Pract Res Clin Endocrinol Metab. 2015 Jun; 29(3):469-83. PMID: 26051303.
      View in: PubMed
    22. Agrawal V, Tee MK, Qiao J, Muench MO, Miller WL. Potential role of increased oxygenation in altering perinatal adrenal steroidogenesis. Pediatr Res. 2015 Feb; 77(2):298-309. PMID: 25470028.
      View in: PubMed
    23. Mugg A, Legeza B, Tee MK, Damm I, Long RK, Miller WL. Quantitation of CYP24A1 enzymatic activity with a simple two-hybrid system. J Clin Endocrinol Metab. 2015 Feb; 100(2):684-8. PMID: 25375986.
      View in: PubMed
    24. Miller WL, Tee MK. The post-translational regulation of 17,20 lyase activity. Mol Cell Endocrinol. 2015 Jun 15; 408:99-106. PMID: 25224484.
      View in: PubMed
    25. Chanakul A, Zhang MY, Louw A, Armbrecht HJ, Miller WL, Portale AA, Perwad F. FGF-23 regulates CYP27B1 transcription in the kidney and in extra-renal tissues. PLoS One. 2013; 8(9):e72816. PMID: 24019880.
      View in: PubMed
    26. Taylor LK, Auchus RJ, Baskin LS, Miller WL. Cortisol response to operative stress with anesthesia in healthy children. J Clin Endocrinol Metab. 2013 Sep; 98(9):3687-93. PMID: 23861461.
      View in: PubMed
    27. Tee MK, Miller WL. Phosphorylation of human cytochrome P450c17 by p38a selectively increases 17,20 lyase activity and androgen biosynthesis. J Biol Chem. 2013 Aug 16; 288(33):23903-13. PMID: 23836902.
      View in: PubMed
    28. Miller WL. Steroid hormone synthesis in mitochondria. Mol Cell Endocrinol. 2013 Oct 15; 379(1-2):62-73. PMID: 23628605.
      View in: PubMed
    29. Biason-Lauber A, Miller WL, Pandey AV, Flück CE. Of marsupials and men: "Backdoor" dihydrotestosterone synthesis in male sexual differentiation. Mol Cell Endocrinol. 2013 May 22; 371(1-2):124-32. PMID: 23376007.
      View in: PubMed
    30. Tee MK, Abramsohn M, Loewenthal N, Harris M, Siwach S, Kaplinsky A, Markus B, Birk O, Sheffield VC, Parvari R, Pavari R, Hershkovitz E, Miller WL. Varied clinical presentations of seven patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc. J Clin Endocrinol Metab. 2013 Feb; 98(2):713-20. PMID: 23337730.
      View in: PubMed
    31. Nebert DW, Wikvall K, Miller WL. Human cytochromes P450 in health and disease. Philos Trans R Soc Lond B Biol Sci. 2013 Feb 19; 368(1612):20120431. PMID: 23297354.
      View in: PubMed
    32. Agrawal V, Miller WL. P450 oxidoreductase: genotyping, expression, purification of recombinant protein, and activity assessments of wild-type and mutant protein. Methods Mol Biol. 2013; 987:225-37. PMID: 23475681.
      View in: PubMed
    33. Gucev ZS, Tee MK, Chitayat D, Wherrett DK, Miller WL. Distinguishing deficiencies in the steroidogenic acute regulatory protein and the cholesterol side chain cleavage enzyme causing neonatal adrenal failure. J Pediatr. 2013 Apr; 162(4):819-22. PMID: 23158025.
      View in: PubMed
    34. Miller WL, Witchel SF. Prenatal treatment of congenital adrenal hyperplasia: risks outweigh benefits. Am J Obstet Gynecol. 2013 May; 208(5):354-9. PMID: 23123167.
      View in: PubMed
    35. Miller WL. A brief history of adrenal research: steroidogenesis - the soul of the adrenal. Mol Cell Endocrinol. 2013 May 22; 371(1-2):5-14. PMID: 23123735.
      View in: PubMed
    36. Miller WL. P450 oxidoreductase deficiency: a disorder of steroidogenesis with multiple clinical manifestations. Sci Signal. 2012 Oct 23; 5(247):pt11. PMID: 23092891.
      View in: PubMed
    37. Auchus RJ, Miller WL. Defects in androgen biosynthesis causing 46,XY disorders of sexual development. Semin Reprod Med. 2012 Oct; 30(5):417-26. PMID: 23044879.
      View in: PubMed
    38. Subramanian M, Agrawal V, Sandee D, Tam HK, Miller WL, Tracy TS. Effect of P450 oxidoreductase variants on the metabolism of model substrates mediated by CYP2C9.1, CYP2C9.2, and CYP2C9.3. Pharmacogenet Genomics. 2012 Aug; 22(8):590-7. PMID: 22547083.
      View in: PubMed
    39. Papadopoulos V, Miller WL. Role of mitochondria in steroidogenesis. Best Pract Res Clin Endocrinol Metab. 2012 Dec; 26(6):771-90. PMID: 23168279.
      View in: PubMed
    40. Witchel SF, Miller WL. Prenatal treatment of congenital adrenal hyperplasia-not standard of care. J Genet Couns. 2012 Oct; 21(5):615-24. PMID: 22639328.
      View in: PubMed
    41. Schonemann MD, Muench MO, Tee MK, Miller WL, Mellon SH. Expression of P450c17 in the human fetal nervous system. Endocrinology. 2012 May; 153(5):2494-505. PMID: 22434081.
      View in: PubMed
    42. Auchus RJ, Miller WL. Congenital adrenal hyperplasia--more dogma bites the dust. J Clin Endocrinol Metab. 2012 Mar; 97(3):772-5. PMID: 22392955.
      View in: PubMed
    43. Miller WL. The syndrome of 17,20 lyase deficiency. J Clin Endocrinol Metab. 2012 Jan; 97(1):59-67. PMID: 22072737.
      View in: PubMed
    44. Miller WL, Bose HS. Early steps in steroidogenesis: intracellular cholesterol trafficking. J Lipid Res. 2011 Dec; 52(12):2111-35. PMID: 21976778.
      View in: PubMed
    45. Flück CE, Meyer-Böni M, Pandey AV, Kempná P, Miller WL, Schoenle EJ, Biason-Lauber A. Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation. Am J Hum Genet. 2011 Aug 12; 89(2):201-18. PMID: 21802064.
      View in: PubMed
    46. Sandee D, Miller WL. High-yield expression of a catalytically active membrane-bound protein: human P450 oxidoreductase. Endocrinology. 2011 Jul; 152(7):2904-8. PMID: 21586563.
      View in: PubMed
    47. Tee MK, Huang N, Damm I, Miller WL. Transcriptional regulation of the human P450 oxidoreductase gene: hormonal regulation and influence of promoter polymorphisms. Mol Endocrinol. 2011 May; 25(5):715-31. PMID: 21393444.
      View in: PubMed
    48. Auchus RJ, Witchel SF, Leight KR, Aisenberg J, Azziz R, Bachega TA, Baker LA, Baratz AB, Baskin LS, Berenbaum SA, Breault DT, Cerame BI, Conway GS, Eugster EA, Fracassa S, Gearhart JP, Geffner ME, Harris KB, Hurwitz RS, Katz AL, Kalro BN, Lee PA, Alger Lin G, Loechner KJ, Marshall I, Merke DP, Migeon CJ, Miller WL, Nenadovich TL, Oberfield SE, Pass KA, Poppas DP, Lloyd-Puryear MA, Quigley CA, Riepe FG, Rink RC, Rivkees SA, Sandberg DE, Schaeffer TL, Schlussel RN, Schneck FX, Seely EW, Snyder D, Speiser PW, Therrell BL, Vanryzin C, Vogiatzi MG, Wajnrajch MP, White PC, Zuckerman AE. Guidelines for the Development of Comprehensive Care Centers for Congenital Adrenal Hyperplasia: Guidance from the CARES Foundation Initiative. Int J Pediatr Endocrinol. 2010; 2010:275213. PMID: 21274448.
      View in: PubMed
    49. Miller WL. Role of mitochondria in steroidogenesis. Endocr Dev. 2011; 20:1-19. PMID: 21164254.
      View in: PubMed
    50. Sahakitrungruang T, Tee MK, Blackett PR, Miller WL. Partial defect in the cholesterol side-chain cleavage enzyme P450scc (CYP11A1) resembling nonclassic congenital lipoid adrenal hyperplasia. J Clin Endocrinol Metab. 2011 Mar; 96(3):792-8. PMID: 21159840.
      View in: PubMed
    51. Ghayee HK, Rege J, Watumull LM, Nwariaku FE, Carrick KS, Rainey WE, Miller WL, Auchus RJ. Clinical, biochemical, and molecular characterization of macronodular adrenocortical hyperplasia of the zona reticularis: a new syndrome. J Clin Endocrinol Metab. 2011 Feb; 96(2):E243-50. PMID: 21084398.
      View in: PubMed
    52. Miller WL, Agrawal V, Sandee D, Tee MK, Huang N, Choi JH, Morrissey K, Giacomini KM. Consequences of POR mutations and polymorphisms. Mol Cell Endocrinol. 2011 Apr 10; 336(1-2):174-9. PMID: 21070833.
      View in: PubMed
    53. Miller WL, Auchus RJ. The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders. Endocr Rev. 2011 Feb; 32(1):81-151. PMID: 21051590.
      View in: PubMed
    54. Sandee D, Morrissey K, Agrawal V, Tam HK, Kramer MA, Tracy TS, Giacomini KM, Miller WL. Effects of genetic variants of human P450 oxidoreductase on catalysis by CYP2D6 in vitro. Pharmacogenet Genomics. 2010 Nov; 20(11):677-86. PMID: 20940534.
      View in: PubMed
    55. Agrawal V, Choi JH, Giacomini KM, Miller WL. Substrate-specific modulation of CYP3A4 activity by genetic variants of cytochrome P450 oxidoreductase. Pharmacogenet Genomics. 2010 Oct; 20(10):611-8. PMID: 20697309.
      View in: PubMed
    56. Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP, Meyer-Bahlburg HF, Miller WL, Montori VM, Oberfield SE, Ritzen M, White PC. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2010 Sep; 95(9):4133-60. PMID: 20823466.
      View in: PubMed
    57. Dong Q, Cheng Z, Chang W, Blackman BE, Conte FA, Hu J, Shoback D, Miller WL. Naturally-occurring mutation in the calcium-sensing receptor reveals the significance of extracellular domain loop III region for class C G-protein-coupled receptor function. J Clin Endocrinol Metab. 2010 Oct; 95(10):E245-52. PMID: 20631026.
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    58. Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP, Meyer-Bahlburg HF, Miller WL, Montori VM, Oberfield SE, Ritzen M, White PC. A Summary of the Endocrine Society Clinical Practice Guidelines on Congenital Adrenal Hyperplasia due to Steroid 21-Hydroxylase Deficiency. Int J Pediatr Endocrinol. 2010; 2010:494173. PMID: 20981249.
      View in: PubMed
    59. Sahakitrungruang T, Soccio RE, Lang-Muritano M, Walker JM, Achermann JC, Miller WL. Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR). J Clin Endocrinol Metab. 2010 Jul; 95(7):3352-9. PMID: 20444910.
      View in: PubMed
    60. Sahakitrungruang T, Tee MK, Rattanachartnarong N, Shotelersuk V, Suphapeetiporn K, Miller WL. Functional characterization of vasopressin receptor 2 mutations causing partial and complete congenital nephrogenic diabetes insipidus in Thai families. Horm Res Paediatr. 2010; 73(5):349-54. PMID: 20389105.
      View in: PubMed
    61. Wang YH, Tee MK, Miller WL. Human cytochrome p450c17: single step purification and phosphorylation of serine 258 by protein kinase a. Endocrinology. 2010 Apr; 151(4):1677-84. PMID: 20160131.
      View in: PubMed
    62. Miller WL. Did Akhenaten have the Antley-Bixler syndrome? Ann Intern Med. 2009 Dec 15; 151(12):892; author reply 892. PMID: 20008767.
      View in: PubMed
    63. Sahakitrungruang T, Huang N, Tee MK, Agrawal V, Russell WE, Crock P, Murphy N, Migeon CJ, Miller WL. Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients. J Clin Endocrinol Metab. 2009 Dec; 94(12):4992-5000. PMID: 19837910.
      View in: PubMed
    64. Sim SC, Miller WL, Zhong XB, Arlt W, Ogata T, Ding X, Wolf CR, Flück CE, Pandey AV, Henderson CJ, Porter TD, Daly AK, Nebert DW, Ingelman-Sundberg M. Nomenclature for alleles of the cytochrome P450 oxidoreductase gene. Pharmacogenet Genomics. 2009 Jul; 19(7):565-6. PMID: 19535965.
      View in: PubMed
    65. Sahakitrungruang T, Tee MK, Speiser PW, Miller WL. Novel P450c17 mutation H373D causing combined 17alpha-hydroxylase/17,20-lyase deficiency. J Clin Endocrinol Metab. 2009 Aug; 94(8):3089-92. PMID: 19470621.
      View in: PubMed
    66. Miller WL. Androgen synthesis in adrenarche. Rev Endocr Metab Disord. 2009 Mar; 10(1):3-17. PMID: 18821018.
      View in: PubMed
    67. Ranadive SA, Ersoy B, Favre H, Cheung CC, Rosenthal SM, Miller WL, Vaisse C. Identification, characterization and rescue of a novel vasopressin-2 receptor mutation causing nephrogenic diabetes insipidus. Clin Endocrinol (Oxf). 2009 Sep; 71(3):388-93. PMID: 19170711.
      View in: PubMed
    68. Gomes LG, Huang N, Agrawal V, Mendonça BB, Bachega TA, Miller WL. Extraadrenal 21-hydroxylation by CYP2C19 and CYP3A4: effect on 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2009 Jan; 94(1):89-95. PMID: 18957504.
      View in: PubMed
    69. Miller WL, Huang N, Agrawal V, Giacomini KM. Genetic variation in human P450 oxidoreductase. Mol Cell Endocrinol. 2009 Mar 05; 300(1-2):180-4. PMID: 18930113.
      View in: PubMed
    70. Agrawal V, Huang N, Miller WL. Pharmacogenetics of P450 oxidoreductase: effect of sequence variants on activities of CYP1A2 and CYP2C19. Pharmacogenet Genomics. 2008 Jul; 18(7):569-76. PMID: 18551037.
      View in: PubMed
    71. Hershkovitz E, Parvari R, Wudy SA, Hartmann MF, Gomes LG, Loewental N, Miller WL. Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20-lyase deficiency. J Clin Endocrinol Metab. 2008 Sep; 93(9):3584-8. PMID: 18559916.
      View in: PubMed
    72. Bremer AA, Miller WL. The serine phosphorylation hypothesis of polycystic ovary syndrome: a unifying mechanism for hyperandrogenemia and insulin resistance. Fertil Steril. 2008 May; 89(5):1039-48. PMID: 18433749.
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    73. Gomes LG, Huang N, Agrawal V, Mendonça BB, Bachega TA, Miller WL. The common P450 oxidoreductase variant A503V is not a modifier gene for 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2008 Jul; 93(7):2913-6. PMID: 18397975.
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    74. Scott RR, Miller WL. Genetic and clinical features of p450 oxidoreductase deficiency. Horm Res. 2008; 69(5):266-75. PMID: 18259105.
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    75. Bose M, Whittal RM, Miller WL, Bose HS. Steroidogenic activity of StAR requires contact with mitochondrial VDAC1 and phosphate carrier protein. J Biol Chem. 2008 Apr 04; 283(14):8837-45. PMID: 18250166.
      View in: PubMed
    76. Huang N, Agrawal V, Giacomini KM, Miller WL. Genetics of P450 oxidoreductase: sequence variation in 842 individuals of four ethnicities and activities of 15 missense mutations. Proc Natl Acad Sci U S A. 2008 Feb 05; 105(5):1733-8. PMID: 18230729.
      View in: PubMed
    77. Bose HS, Whittal RM, Ran Y, Bose M, Baker BY, Miller WL. StAR-like activity and molten globule behavior of StARD6, a male germ-line protein. Biochemistry. 2008 Feb 26; 47(8):2277-88. PMID: 18211099.
      View in: PubMed
    78. Tee MK, Dong Q, Miller WL. Pathways leading to phosphorylation of p450c17 and to the posttranslational regulation of androgen biosynthesis. Endocrinology. 2008 May; 149(5):2667-77. PMID: 18187541.
      View in: PubMed
    79. Kim CJ, Lin L, Huang N, Quigley CA, AvRuskin TW, Achermann JC, Miller WL. Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc. J Clin Endocrinol Metab. 2008 Mar; 93(3):696-702. PMID: 18182448.
      View in: PubMed
    80. Flück CE, Pandey AV, Huang N, Agrawal V, Miller WL. P450 oxidoreductase deficiency - a new form of congenital adrenal hyperplasia. Endocr Dev. 2008; 13:67-81. PMID: 18493134.
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    81. Miller WL. Steroidogenic enzymes. Endocr Dev. 2008; 13:1-18. PMID: 18493130.
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    82. Kim CJ, Kaplan LE, Perwad F, Huang N, Sharma A, Choi Y, Miller WL, Portale AA. Vitamin D 1alpha-hydroxylase gene mutations in patients with 1alpha-hydroxylase deficiency. J Clin Endocrinol Metab. 2007 Aug; 92(8):3177-82. PMID: 17488797.
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    83. Scott RR, Gomes LG, Huang N, Van Vliet G, Miller WL. Apparent manifesting heterozygosity in P450 oxidoreductase deficiency and its effect on coexisting 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2007 Jun; 92(6):2318-22. PMID: 17389698.
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    84. Miller WL. Steroidogenic acute regulatory protein (StAR), a novel mitochondrial cholesterol transporter. Biochim Biophys Acta. 2007 Jun; 1771(6):663-76. PMID: 17433772.
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    85. Baker BY, Epand RF, Epand RM, Miller WL. Cholesterol binding does not predict activity of the steroidogenic acute regulatory protein, StAR. J Biol Chem. 2007 Apr 06; 282(14):10223-32. PMID: 17301050.
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    86. Miller WL. Mechanism of StAR's regulation of mitochondrial cholesterol import. Mol Cell Endocrinol. 2007 Feb; 265-266:46-50. PMID: 17207924.
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    87. Miller WL. StAR search--what we know about how the steroidogenic acute regulatory protein mediates mitochondrial cholesterol import. Mol Endocrinol. 2007 Mar; 21(3):589-601. PMID: 16973755.
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    88. Baker BY, Lin L, Kim CJ, Raza J, Smith CP, Miller WL, Achermann JC. Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia. J Clin Endocrinol Metab. 2006 Dec; 91(12):4781-4785. PMID: 16968793.
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    89. Flück CE, Miller WL. P450 oxidoreductase deficiency: a new form of congenital adrenal hyperplasia. Curr Opin Pediatr. 2006 Aug; 18(4):435-41. PMID: 16915000.
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    90. Miller WL, Huang N, Pandey AV, Flück CE, Agrawal V. P450 oxidoreductase deficiency: a new disorder of steroidogenesis. Ann N Y Acad Sci. 2005 Dec; 1061:100-8. PMID: 16467261.
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    91. Baker BY, Yaworsky DC, Miller WL. A pH-dependent molten globule transition is required for activity of the steroidogenic acute regulatory protein, StAR. J Biol Chem. 2005 Dec 16; 280(50):41753-60. PMID: 16234239.
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    92. Feldman BJ, Rosenthal SM, Vargas GA, Fenwick RG, Huang EA, Matsuda-Abedini M, Lustig RH, Mathias RS, Portale AA, Miller WL, Gitelman SE. Nephrogenic syndrome of inappropriate antidiuresis. N Engl J Med. 2005 May 05; 352(18):1884-90. PMID: 15872203.
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    93. Huang N, Dardis A, Miller WL. Regulation of cytochrome b5 gene transcription by Sp3, GATA-6, and steroidogenic factor 1 in human adrenal NCI-H295A cells. Mol Endocrinol. 2005 Aug; 19(8):2020-34. PMID: 15831526.
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    94. Huang N, Pandey AV, Agrawal V, Reardon W, Lapunzina PD, Mowat D, Jabs EW, Van Vliet G, Sack J, Flück CE, Miller WL. Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. Am J Hum Genet. 2005 May; 76(5):729-49. PMID: 15793702.
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    95. Miller WL. Minireview: regulation of steroidogenesis by electron transfer. Endocrinology. 2005 Jun; 146(6):2544-50. PMID: 15774560.
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    96. Flück CE, Yaworsky DC, Miller WL. Effects of anticonvulsants on human p450c17 (17alpha-hydroxylase/17,20 lyase) and 3beta-hydroxysteroid dehydrogenase type 2. Epilepsia. 2005 Mar; 46(3):444-8. PMID: 15730543.
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    97. Pandey AV, Miller WL. Regulation of 17,20 lyase activity by cytochrome b5 and by serine phosphorylation of P450c17. J Biol Chem. 2005 Apr 08; 280(14):13265-71. PMID: 15687493.
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    98. Miller WL. Disorders of androgen synthesis--from cholesterol to dehydroepiandrosterone. Med Princ Pract. 2005; 14 Suppl 1:58-68. PMID: 16103714.
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    99. Chen X, Baker BY, Abduljabbar MA, Miller WL. A genetic isolate of congenital lipoid adrenal hyperplasia with atypical clinical findings. J Clin Endocrinol Metab. 2005 Feb; 90(2):835-40. PMID: 15546900.
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    100. Miller WL, Huang N, Flück CE, Pandey AV. P450 oxidoreductase deficiency. Lancet. 2004 Nov 6-12; 364(9446):1663. PMID: 15530620.
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    101. Pandey AV, Flück CE, Huang N, Tajima T, Fujieda K, Miller WL. P450 oxidoreductase deficiency: a new disorder of steroidogenesis affecting all microsomal P450 enzymes. Endocr Res. 2004 Nov; 30(4):881-8. PMID: 15666840.
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    102. Hauet T, Yao ZX, Bose HS, Wall CT, Han Z, Li W, Hales DB, Miller WL, Culty M, Papadopoulos V. Peripheral-type benzodiazepine receptor-mediated action of steroidogenic acute regulatory protein on cholesterol entry into leydig cell mitochondria. Mol Endocrinol. 2005 Feb; 19(2):540-54. PMID: 15498831.
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    103. Yaworsky DC, Baker BY, Bose HS, Best KB, Jensen LB, Bell JD, Baldwin MA, Miller WL. pH-dependent Interactions of the carboxyl-terminal helix of steroidogenic acute regulatory protein with synthetic membranes. J Biol Chem. 2005 Jan 21; 280(3):2045-54. PMID: 15489236.
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    104. Huang N, Miller WL. LBP proteins modulate SF1-independent expression of P450scc in human placental JEG-3 cells. Mol Endocrinol. 2005 Feb; 19(2):409-20. PMID: 15471945.
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    105. Miller WL. P450 oxidoreductase deficiency: a new disorder of steroidogenesis with multiple clinical manifestations. Trends Endocrinol Metab. 2004 Sep; 15(7):311-5. PMID: 15350602.
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    106. Dong Q, Miller WL. Vitamin D 25-hydroxylase deficiency. Mol Genet Metab. 2004 Sep-Oct; 83(1-2):197-8. PMID: 15464435.
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    107. Gassner HL, Toppari J, Quinteiro González S, Miller WL. Near-miss apparent SIDS from adrenal crisis. J Pediatr. 2004 Aug; 145(2):178-83. PMID: 15289763.
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    108. Holmes NM, Miller WL, Baskin LS. Lack of defects in androgen production in children with hypospadias. J Clin Endocrinol Metab. 2004 Jun; 89(6):2811-6. PMID: 15181062.
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    109. Arlt W, Neogi P, Gross C, Miller WL. Cinnamic acid based thiazolidinediones inhibit human P450c17 and 3beta-hydroxysteroid dehydrogenase and improve insulin sensitivity independent of PPARgamma agonist activity. J Mol Endocrinol. 2004 Apr; 32(2):425-36. PMID: 15072549.
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    110. Flück CE, Miller WL. GATA-4 and GATA-6 modulate tissue-specific transcription of the human gene for P450c17 by direct interaction with Sp1. Mol Endocrinol. 2004 May; 18(5):1144-57. PMID: 14988427.
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    111. Flück CE, Tajima T, Pandey AV, Arlt W, Okuhara K, Verge CF, Jabs EW, Mendonça BB, Fujieda K, Miller WL. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet. 2004 Mar; 36(3):228-30. PMID: 14758361.
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    112. Tuckey RC, Bose HS, Czerwionka I, Miller WL. Molten globule structure and steroidogenic activity of N-218 MLN64 in human placental mitochondria. Endocrinology. 2004 Apr; 145(4):1700-7. PMID: 14715710.
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    113. Miller WL. Steroid 17alpha-hydroxylase deficiency--not rare everywhere. J Clin Endocrinol Metab. 2004 Jan; 89(1):40-2. PMID: 14715825.
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    114. Lin CJ, Dardis A, Wijesuriya SD, Abdullah MA, Casella SJ, Miller WL. Lack of mutations in CYP2D6 and CYP27 in patients with apparent deficiency of vitamin D 25-hydroxylase. Mol Genet Metab. 2003 Dec; 80(4):469-72. PMID: 14654361.
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    115. Dardis A, Miller WL. Dexamethasone does not exert direct intracellular feedback on steroidogenesis in human adrenal NCI-H295A cells. J Endocrinol. 2003 Oct; 179(1):131-42. PMID: 14529573.
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    116. Flück CE, Miller WL, Auchus RJ. The 17, 20-lyase activity of cytochrome p450c17 from human fetal testis favors the delta5 steroidogenic pathway. J Clin Endocrinol Metab. 2003 Aug; 88(8):3762-6. PMID: 12915666.
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    117. Nazarov PA, Drutsa VL, Miller WL, Shkumatov VM, Luzikov VN, Novikova LA. Formation and functioning of fused cholesterol side-chain cleavage enzymes. DNA Cell Biol. 2003 Apr; 22(4):243-52. PMID: 12823901.
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    118. Miller WL, Portale AA. Vitamin D biosynthesis and vitamin D 1 alpha-hydroxylase deficiency. Endocr Dev. 2003; 6:156-74. PMID: 12964431.
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    119. Rao RM, Jo Y, Leers-Sucheta S, Bose HS, Miller WL, Azhar S, Stocco DM. Differential regulation of steroid hormone biosynthesis in R2C and MA-10 Leydig tumor cells: role of SR-B1-mediated selective cholesteryl ester transport. Biol Reprod. 2003 Jan; 68(1):114-21. PMID: 12493702.
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    120. Miller WL. Androgen biosynthesis from cholesterol to DHEA. Mol Cell Endocrinol. 2002 Dec 30; 198(1-2):7-14. PMID: 12573809.
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    121. Arlt W, Martens JW, Song M, Wang JT, Auchus RJ, Miller WL. Molecular evolution of adrenarche: structural and functional analysis of p450c17 from four primate species. Endocrinology. 2002 Dec; 143(12):4665-72. PMID: 12446594.
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    122. Pandey AV, Mellon SH, Miller WL. Protein phosphatase 2A and phosphoprotein SET regulate androgen production by P450c17. J Biol Chem. 2003 Jan 31; 278(5):2837-44. PMID: 12444089.
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    123. Bose HS, Lingappa VR, Miller WL. The steroidogenic acute regulatory protein, StAR, works only at the outer mitochondrial membrane. Endocr Res. 2002 Nov; 28(4):295-308. PMID: 12530629.
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    124. Tuckey RC, Headlam MJ, Bose HS, Miller WL. Transfer of cholesterol between phospholipid vesicles mediated by the steroidogenic acute regulatory protein (StAR). J Biol Chem. 2002 Dec 06; 277(49):47123-8. PMID: 12372832.
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    125. Wijesuriya SD, Bristow J, Miller WL. Localization and analysis of the principal promoter for human tenascin-X. Genomics. 2002 Oct; 80(4):443-52. PMID: 12376099.
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    126. Flück CE, Martens JW, Conte FA, Miller WL. Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay. J Clin Endocrinol Metab. 2002 Sep; 87(9):4318-23. PMID: 12213892.
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    127. Miller WL. Disorders of androgen biosynthesis. Semin Reprod Med. 2002 Aug; 20(3):205-16. PMID: 12428201.
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    128. Wang X, Zhang MY, Miller WL, Portale AA. Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro. J Clin Endocrinol Metab. 2002 Jun; 87(6):2424-30. PMID: 12050193.
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    129. Bose HS, Lingappa VR, Miller WL. Rapid regulation of steroidogenesis by mitochondrial protein import. Nature. 2002 May 02; 417(6884):87-91. PMID: 11986670.
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    130. Xie Z, Munson SJ, Huang N, Portale AA, Miller WL, Bikle DD. The mechanism of 1,25-dihydroxyvitamin D(3) autoregulation in keratinocytes. J Biol Chem. 2002 Oct 04; 277(40):36987-90. PMID: 11956203.
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    131. Zhang MY, Wang X, Wang JT, Compagnone NA, Mellon SH, Olson JL, Tenenhouse HS, Miller WL, Portale AA. Dietary phosphorus transcriptionally regulates 25-hydroxyvitamin D-1alpha-hydroxylase gene expression in the proximal renal tubule. Endocrinology. 2002 Feb; 143(2):587-95. PMID: 11796514.
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    132. Clayton PE, Miller WL, Oberfield SE, Ritzén EM, Sippell WG, Speiser PW. Consensus statement on 21-hydroxylase deficiency from the European Society for Paediatric Endocrinology and the Lawson Wilkins Pediatric Endocrine Society. Horm Res. 2002; 58(4):188-95. PMID: 12324718.
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