Email: cshackleton@chori.org
Phone: 510-450-7660

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Publications 2007-2012

  1. Analysis of bioactive oxysterols in newborn mouse brain by liquid chromatography - mass spectrometry. Meljon A, Theofilopoulos S, Shackleton CH, et al J Lipid Res. 2012 .

  2. A missense mutation in the human cytochrome b5 gene causes 46,XY disorder of sex development due to true isolated 17,20 lyase deficiency.
    Idkowiak J, Randell T, Dhir V, Patel P, Shackleton CH, et al J Clin Endocrinol Metab. 2012 ;97:E465-75

  3. Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.Krone N, Reisch N, Idkowiak J, Dhir V, Ivison HE, Hughes BA, Rose IT, O'Neil DM, Vijzelaar R, Smith MJ, MacDonald F, Cole TR, Adolphs N, Barton JS, Blair EM, Braddock SR, Collins F, Cragun DL, Dattani MT, Day R, Dougan S, Feist M, Gottschalk ME, Gregory JW, Haim M, Harrison R, Olney AH, Hauffa BP, Hindmarsh PC, Hopkin RJ, Jira PE, Kempers M, Kerstens MN, Khalifa MM, Köhler B, Maiter D, Nielsen S, O'Riordan SM, Roth CL, Shane KP, Silink M, Stikkelbroeck NM, Sweeney E, Szarras-Czapnik M, Waterson JR, Williamson L, Hartmann MF, Taylor NF, Wudy SA, Malunowicz EM, Shackleton CH, Arlt W. J Clin Endocrinol Metab. 2012 ;97:E257-67.

  4. Urine steroid metabolomics as a biomarker tool for detecting malignancy in adrenal tumors. Arlt W, Biehl M, Taylor AE, Hahner S, Libé R, Hughes BA, Schneider P, Smith DJ, Stiekema H, Krone N, Porfiri E, Opocher G, Bertherat J, Mantero F, Allolio B, Terzolo M, Nightingale P, Shackleton CH, Bertagna X, Fassnacht M, Stewart PM. J Clin Endocrinol Metab. 2011;96:3775-84

  5. Role of a disordered steroid metabolome in the elucidation of sterol and steroid biosynthesis. Shackleton CH. Lipids. 2012 ;47:1-12.

  6. Distinctive profile of the 17-hydroxylase and 17,20-lyase activities revealed by urinary steroid metabolomes of patients with CYP17 deficiency.
    Neres MS, Auchus RJ, Shackleton CH, Kater CE. Arq Bras Endocrinol Metabol. 2010;54:826-32.

  7. Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency. Idkowiak J, O'Riordan S, Reisch N, Malunowicz EM, Collins F, Kerstens MN, Köhler B, Graul-Neumann LM, Szarras-Czapnik M, Dattani M, Silink M, Shackleton CH, Maiter D, Krone N, Arlt W.
    J Clin Endocrinol Metab. 2011;96:E453-62

  8. Hair and skin sterols in normal mice and those with deficient dehydrosterol reductase (DHCR7), the enzyme associated with Smith-Lemli-Opitz syndrome.
    Serra M, Matabosch X, Ying L, Watson G, Shackleton C. J Steroid Biochem Mol Biol. 2010;122:318-25.

  9. Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer. Matabosch X, Ying L, Serra M, Wassif CA, Porter FD, Shackleton C, Watson G. J Steroid Biochem Mol Biol. 2010;122:303-9.

  10. Prevalence of steroid sulfatase deficiency in California according to race and ethnicity. Craig WY, Roberson M, Palomaki GE, Shackleton CH, Marcos J, Haddow JE. Prenat Diagn. 2010 ;30:893-8.

  11. Gas chromatography/mass spectrometry (GC/MS) remains a pre-eminent discovery tool in clinical steroid investigations even in the era of fast liquid chromatography tandem mass spectrometry (LC/MS/MS). Krone N, Hughes BA, Lavery GG, Stewart PM, Arlt W, Shackleton CH. J Steroid Biochem Mol Biol. 2010;121:496-504.

  12. Concomitant mutations in the P450 oxidoreductase and androgen receptor genes presenting with 46,XY disordered sex development and androgenization at adrenarche. Idkowiak J, Malunowicz EM, Dhir V, Reisch N, Szarras-Czapnik M, Holmes DM, Shackleton CH, Davies JD, Hughes IA, Krone N, Arlt W.
    J Clin Endocrinol Metab. 2010 ;95:3418-27.

  13. Clinical steroid mass spectrometry: a 45-year history culminating in HPLC-MS/MS becoming an essential tool for patient diagnosis. Shackleton C.
    J Steroid Biochem Mol Biol. 2010;121:481-90

  14. A half-century of anabolic steroids in sport. Bowers LD, Clark RV, Shackleton CH.Steroids. 2009 ;74:285-7.

  15. Maternal urine and serum steroid measurements to identify steroid sulfatase deficiency (STSD) in second trimester pregnancies. Marcos J, Craig WY, Palomaki GE, Kloza EM, Haddow JE, Roberson M, Bradley LA, Shackleton CH.
    Prenat Diagn. 2009 29:771-80.

  16. Steroid production and excretion by the pregnant mouse, particularly in relation to pregnancies with fetuses deficient in Delta7-sterol reductase (Dhcr7), the enzyme associated with Smith-Lemli-Opitz syndrome. Matabosch X, Rahman M, Hughes B, Patel SB, Watson G, Shackleton C. J Steroid Biochem Mol Biol. 2009 ;116:61-70

  17. Steroid analysis and doping control 1960-1980: scientific developments and personal anecdotes. Shackleton C. Steroids. 2009 ;74:288-95.

  18. Steroid biomarkers and genetic studies reveal inactivating mutations in  hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency.  Lavery GG, Walker EA, Tiganescu A, Ride JP, Shackleton CH, Tomlinson JW, Connell JM, Ray DW, Biason-Lauber A, Malunowicz EM, Arlt W, Stewart PM.  J Clin Endocrinol Metab. 2008;93:3827-32.

  19. Potential of sterol analysis by liquid chromatography-tandem mass spectrometry for the prenatal diagnosis of Smith-Lemli-Opitz syndrome. Griffiths WJ, Wang Y, Karu K, Samuel E, McDonnell S, Hornshaw M, Shackleton C. Clin Chem. 2008 ;54:1317-24.

  20. A novel form of human mendelian hypertension featuring nonglucocorticoid-remediable aldosteronism. Geller DS, Zhang J, Wisgerhof MV, Shackleton C, Kashgarian M, Lifton RP. J Clin Endocrinol Metab. 2008 ;93:3117-23.

  21. The corticosteroid metabolic profile of the mouse. Shackleton CH, Hughes BA, Lavery GG, Walker EA, Stewart PM. Steroids. 2008 ;73:1066-76.

  22. 17-Hydroxylase/C17,20-lyase (CYP17) is not the enzyme responsible for side-chain cleavage of cortisol and its metabolites. Shackleton CH, Neres MS, Hughes BA, Stewart PM, Kater CE. Steroids. 2008 ;73:652-6.

  23. Human D4-3-oxosteroid 5b-reductase (AKR1D1) deficiency and steroid metabolism. Palermo M, Marazzi MG, Hughes BA, Stewart PM, Clayton PT, Shackleton CH. Steroids. 2008;73:417-23.

  24. Cholesterol biosynthesis from birth to adulthood in a mouse model for 7-dehydrosterol reductase deficiency (Smith-Lemli-Opitz syndrome).
    Marcos J, Shackleton CH, Buddhikot MM, Porter FD, Watson GL.
    Steroids. 2007;72:802-8.

  25. Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS). Shackleton CH, Marcos J, Palomaki GE, Craig WY, Kelley RI, Kratz LE, Haddow JE. Am J Med Genet A. 2007;143A:2129-36.

  26. Identification of plasma glucocorticoids in pallid sturgeon in response to stress.
    Webb MA, Allert JA, Kappenman KM, Marcos J, Feist GW, Schreck CB, Shackleton CH. Gen Comp Endocrinol. 2007 ;154:98-104.

  27. 11b-Hydroxysteroid Dehydrogenase Type 1 Regulation by Intracellular Glucose 6-Phosphate Provides Evidence for a Novel Link between Glucose Metabolism and Hypothalamo-Pituitary-Adrenal Axis Function. Walker EA, Ahmed A, Lavery GG, Tomlinson JW, Kim SY, Cooper MS, Ride JP, Hughes BA, Shackleton CH, McKiernan P, Elias E, Chou JY, Stewart PM. J Biol Chem. 2007 14;28:27030-6.

  28. Differential inhibition of CYP17A1 and CYP21A2 activities by the P450 oxidoreductase mutant A287P. Dhir V, Ivison HE, Krone N, Shackleton CH, Doherty AJ, Stewart PM, Arlt W. Mol Endocrinol. 2007 ;21:1958-68.

Revised: Thursday, September 27, 2012 2:35 PM

 

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