Publications and Manuscripts, 2000-2004

1. Shackleton C, Marcos J, Arlt W, Hauffa BP. Prenatal diagnosis of P450 oxidoreductase efficiency (ORD): a disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley-Bixler syndrome phenotype. Am J Med Genet 2004, in press.

2. Adachi M, Asakura Y, Tachibana K, Shackleton CH. Abnormal steroidogenesis in three patients with Antley-Bixler syndrome: apparent decreased activity of 17 alpha-hydroxylase, 17,20-lyase and 21-hydroxylase. Pediatrics International 2004, in press.

3. Arlt W, Walker EA, Draper N, Ivison HE, Ride JP, Hammer F, Chalder SM, Borucka-Mankiewicz M, Hauffa BP, Malunowicz EM, Stewart PM, Shackleton CHL. Congenital adrenal hyperplasia with apparent combined P450c17 and P450c21 deficiency is caused by mutations in P450 oxidoreductase. Lancet 2004;363:2128-2135.

4. Shackleton C, Marcos J, Malunowicz EM, Szarras-Czapnik M, Jira P, Taylor NF, Murphy N, Crushell E, Gottschalk M, Hauffa BP, Cragun DL, Hopkin RJ, Adachi M, Arlt W. Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis. Am J Med Genet 2004;128A:333-339.

5. Cragun DL, Trumpy SK, Shackleton CHL, Kelley RI, Leslie ND, Mulrooney N, Hopkin RJ. Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome. Am J Med Genet 2004;129A:1-7.

6. Marcos J, Guo L-W, Wilson WK, Porter FD, Shackleton C. The implications of 7-dehydrosterol-7-reductase deficiency (Smith-Lemli-Opitz syndrome) to neurosteroid production. Steroids 2004;69:51-60.

7. Corbin CJ, Mapes SM, Marcos J, Shackleton CH, Morrow D, Safe S, Wise T, Ford JJ, Conley AJ. Paralogues of porcine aromatase cytochrome P450: A novel hydroxylase activity is associated with the survival of a duplicated gene. Endocrinology 2004;69:51-60.

8. Zhu YS, Cordero JJ, Can S, Cai LQ, You X, Herrera C, DeFillo-Ricart M, Shackleton C, Imperato-McGinley J. Mutations in CYP11B1 gene: phenotype-genotype correlations. Am J Med Genet 2003;122A:193-200.

9. Tomlinson JW, Crabtree N, Clark PM, Holder G, Toogood AA, Shackleton CHL, Stewart PM. Low-dose growth hormone inhibits 11 beta-hydroxysteroid dehydrogenase type 1 but has no effect upon fat mass in patients with simple obesity. J Clin Endocrinol Metab 2003;88:2113-8.

10. Shackleton C, Malunowicz E. Apparent pregnene hydroxylation deficiency (APHD): seeking the parentage of an orphan metabolome. Steroids 2003;68:707-17.

11. Marshall I, Ugrasbul F, Manginello F, Wajnrajch MP, Shackleton CH, New MI, Vogiatzi MV. Congenital hypopituitarism as a cause of undetectable estriol levels in the maternal triple-marker screen. J Clin Endocrinol Metab 2003;88:4144-8.
260. Guo LW, Wilson WK, Pang J, Shackleton CH. Chemical synthesis of 7- and 8-dehydro derivatives of pregnane-3,17alpha,20-triols, potential steroid metabolites in Smith-Lemli-Opitz syndrome. Steroids 2003;68:31-42.

12. Draper N, Walker EA, Bujalska IJ, Tomlinson JW, Chalder SM, Arlt W, Lavery GG, Bedendo O, Ray DW, Laing I, Malunowicz E, White PC, Hewison M, Mason PJ, Connell JM, Shackleton CHL, Stewart PM Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency. Nat Genet 2003;34:434-9.

13. Cooper MS, Blumsohn A, Goddard PE, Bartlett WA, Shackleton CH, Eastell R, Hewison M, Stewart PM. 11beta-hydroxysteroid dehydrogenase type 1 activity predicts the effects of glucocorticoids on bone. J Clin Endocrinol Metab 2003;88:3874-7.

14. Slominski A, Wortsman J, Foecking MF, Shackleton C, Gomez-Sanchez C, Szczesniewski A. Gas chromatography/mass spectrometry characterization of corticosteroid metabolism in human immortalized keratinocytes. J Invest Dermatol 2002;118:310-5.

15. Silfen ME, Shackleton CH, Manibo AM, Levine LS, Sekhar D, McMahon DJ, Oberfield SE. 5 alpha-reductase and 11 beta-hydroxysteroid dehydrogenase activity in prepubertal Hispanic girls with premature adrenarche. J Clin Endocrinol Metab 2002;87:4647-51.

16. Shackleton C, Roitman E, Guo LW, Wilson WK, Porter FD. Identification of 7(8) and 8(9) unsaturated adrenal steroid metabolites produced by patients with 7-dehydrosterol-delta7-reductase deficiency (Smith-Lemli-Opitz syndrome). J Steroid Biochem Mol Biol 2002;82:225-32.

17. Papageorgopoulos C, Caldwell K, Schweingrubber H, Neese RA, Shackleton CH, Hellerstein M. Measuring synthesis rates of muscle creatine kinase and myosin with stable isotopes and mass spectrometry. Anal Biochem 2002;309:1-10.

18. Palermo M, Armanini D, Shackleton CH, Sorba G, Cossu M, Roitman E, Scaroni C, Delitala G. Furosemide and 11beta-hydroxysteroid dehydrogenase activity, in man. Exp Clin Endocrinol Diabetes 2002;110:272-6.

19. Caulfield MP, Lynn T, Gottschalk ME, Jones KL, Taylor NF, Malunowicz, EM, Shackleton CHL, Reitz RE, Fisher DA. The diagnosis of congenital adrenal hyperplasia in the newborn by gas chromatography/mass spectrometry analysis of random urine specimens. J Clin Endocrinol Metab 2002;87:3682-90.

20. Brasch J, Flader S, Roggentin P, Wudy S, Homoki J, Shackleton CHL, Sipell W. [Dehydroepiandrosterone metabolism by Epidermophyton floccosum]. Mycoses 2002;45 Suppl 1:37-40.

21. Shackleton CH, Roitman E, Kratz L, Kelley R. Dehydro-oestriol and dehydropregnanetriol are candidate analytes for prenatal diagnosis of Smith-Lemli-Opitz syndrome. Prenat Diagn 2001;21:207-12.

22. Rauz S, Walker EA, Shackleton CH, Hewison M, Murray PI, Stewart PM. Expression and putative role of 11 beta-hydroxysteroid dehydrogenase isozymes within the human eye. Invest Ophthalmol Vis Sci 2001;42:2037-42.

23. Palermo M, Delitala G, Mantero F, Stewart PM, Shackleton CH. Congenital deficiency of 11beta-hydroxysteroid dehydrogenase (apparent mineralocorticoid excess syndrome): diagnostic value of urinary free cortisol and cortisone. J Endocrinol Invest 2001;24:17-23.

24. Guo LW, Shackleton CH, Wilson WK. Synthesis of ring B unsaturated estriols. Confirming the structure of a diagnostic analyte for Smith-Lemli-Opitz syndrome. Org Lett 2001;3:2547-50.

25. Shaw G, Renfree MB, Leihy MW, Shackleton CH, Roitman E, Wilson JD. Prostate formation in a marsupial is mediated by the testicular androgen 5 alpha-androstane-3 alpha,17 beta-diol. Proc Natl Acad Sci U S A 2000;97:12256-9.

26. Palermo M, Delitala G, Sorba G, Cossu M, Satta R, Tedde R, Pala A, Shackleton CHL. Does kidney transplantation normalise cortisol metabolism in apparent mineralocorticoid excess syndrome? J Endocrinol Invest 2000;23:457-62.

27. Chin D, Shackleton C, Prasad VK, Kohn B, David R, Imperato-McGinley J, Cohen H, McMahon DJ, Oberfield SE. Increased 5alpha-reductase and normal 11beta-hydroxysteroid dehydrogenase metabolism of C19 and C21 steroids in a young population with polycystic ovarian syndrome. J Pediatr Endocrinol Metab 2000;13:253-9.
28. Biason-Lauber A, Suter SL, Shackleton CH, Zachmann M. Apparent cortisone reductase deficiency: a rare cause of hyperandrogenemia and hypercortisolism. Horm Res 2000;53:260-6.