Role of a Disordered Steroid Metabolome in the Elucidation of Sterol and Steroid Biosynthesis

Por Shackleton, Cedric H. L.
Publicado em 2011

Points: Recognising placental steroid sulphatase deficiency

Por Epstein, Ervin H, Krauss, Ronald M, Shackleton, Cedric H L
Publicado em 1983

Analysis by liquid chromatography–mass spectrometry of sterols and oxysterols in brain of the newborn Dhcr7(Δ3-5/T93M) mouse: A model of Smith–Lemli–Opitz syndrome

Por Meljon, Anna, Watson, Gordon L., Wang, Yuqin, Shackleton, Cedric H.L., Griffiths, William J.
Publicado em 2013

Cholesterol Biosynthesis from Birth to Adulthood in a Mouse Model for 7-dehydrosterol reductase deficiency (Smith-Lemli-Opitz Syndrome)

Por Marcos, Josep, Shackleton, Cedric H.L., Buddhikot, Madhavee M., Porter, Forbes D., Watson, Gordon L.
Publicado em 2007

Prostate formation in a marsupial is mediated by the testicular androgen 5α-androstane-3α,17β-diol

Por Shaw, Geoffrey, Renfree, Marilyn B., Leihy, Michael W., Shackleton, Cedric H. L., Roitman, Esther, Wilson, Jean D.
Publicado em 2000

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 spect...

Por Krone, Nils, Hughes, Beverly A., Lavery, Gareth G., Stewart, Paul M., Arlt, Wiebke, Shackleton, Cedric H.L.
Publicado em 2010

A Missense Mutation in the Human Cytochrome b5 Gene causes 46,XY Disorder of Sex Development due to True Isolated 17,20 Lyase Deficiency

Por Idkowiak, Jan, Randell, Tabitha, Dhir, Vivek, Patel, Pushpa, Shackleton, Cedric H. L., Taylor, Norman F., Krone, Nils, Arlt, Wiebke
Publicado em 2012

Evidence for Increased 5α-Reductase Activity During Early Childhood in Daughters of Women With Polycystic Ovary Syndrome

Por Torchen, Laura C., Idkowiak, Jan, Fogel, Naomi R., O'Neil, Donna M., Shackleton, Cedric H. L., Arlt, Wiebke, Dunaif, Andrea
Publicado no J Clin Endocrinol Metab (2016)

A SULT2A1 genetic variant identified by GWAS as associated with low serum DHEAS does not impact on the actual DHEA/DHEAS ratio

Por Haring, Robin, Wallaschofski, Henri, Teumer, Alexander, Kroemer, Heyo, Taylor, Angela E, Shackleton, Cedric H L, Nauck, Matthias, Völker, Uwe, Homuth, Georg, Arlt, Wiebke
Publicado em 2013

Analysis of bioactive oxysterols in newborn mouse brain by LC/MS

Por Meljon, Anna, Theofilopoulos, Spyridon, Shackleton, Cedric H. L., Watson, Gordon L., Javitt, Norman B., Knölker, Hans-Joachim, Saini, Ratni, Arenas, Ernest, Wang, Yuqin, Griffiths, William J.
Publicado em 2012

A genetic defect resulting in mild low-renin hypertension

Por Wilson, Robert C., Dave-Sharma, Swati, Wei, Ji-Qing, Obeyesekere, Varuni R., Li, Kevin, Ferrari, Paolo, Krozowski, Zygmunt S., Shackleton, Cedric H. L., Bradlow, Leon, Wiens, Timothy, New, Maria I.
Publicado em 1998

Concomitant Mutations in the P450 Oxidoreductase and Androgen Receptor Genes Presenting with 46,XY Disordered Sex Development and Androgenization at Adrenarche

Por Idkowiak, Jan, Malunowicz, Ewa M., Dhir, Vivek, Reisch, Nicole, Szarras-Czapnik, Maria, Holmes, Donna M., Shackleton, Cedric H. L., Davies, John D., Hughes, Ieuan A., Krone, Nils, Arlt, Wiebke
Publicado em 2010

Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty

Por Idkowiak, Jan, Taylor, Angela E., Subtil, Sandra, O'Neil, Donna M., Vijzelaar, Raymon, Dias, Renuka P., Amin, Rakesh, Barrett, Timothy G., Shackleton, Cedric H. L., Kirk, Jeremy M. W., Moss, Celia, Arlt, Wiebke
Publicado no J Clin Endocrinol Metab (2016)

Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency

Por Lavery, Gareth G., Walker, Elizabeth A., Tiganescu, Ana, Ride, Jon P., Shackleton, Cedric H. L., Tomlinson, Jeremy W., Connell, John M. C., Ray, David W., Biason-Lauber, Anna, Malunowicz, Ewa M., Arlt, Wiebke, Stewart, Paul M.
Publicado em 2008

Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency

Por Reisch, Nicole, Idkowiak, Jan, Hughes, Beverly A., Ivison, Hannah E., Abdul-Rahman, Omar A., Hendon, Laura G., Olney, Ann Haskins, Nielsen, Shelly, Harrison, Rachel, Blair, Edward M., Dhir, Vivek, Krone, Nils, Shackleton, Cedric H. L., Arlt, Wiebke
Publicado em 2013

Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

Por Idkowiak, Jan, O'Riordan, Stephen, Reisch, Nicole, Malunowicz, Ewa M., Collins, Felicity, Kerstens, Michiel N., Köhler, Birgit, Graul-Neumann, Luitgard Margarete, Szarras-Czapnik, Maria, Dattani, Mehul, Silink, Martin, Shackleton, Cedric H. L., Maiter, Dominique, Krone, Nils, Arlt, Wiebke
Publicado em 2011

Urine Steroid Metabolomics as a Biomarker Tool for Detecting Malignancy in Adrenal Tumors

Por Arlt, Wiebke, Biehl, Michael, Taylor, Angela E., Hahner, Stefanie, Libé, Rossella, Hughes, Beverly A., Schneider, Petra, Smith, David J., Stiekema, Han, Krone, Nils, Porfiri, Emilio, Opocher, Giuseppe, Bertherat, Jerôme, Mantero, Franco, Allolio, Bruno, Terzolo, Massimo, Nightingale, Peter, Shackleton, Cedric H. L., Bertagna, Xavier, Fassnacht, Martin, Stewart, Paul M.
Publicado em 2011

Steroid metabolome analysis reveals prevalent glucocorticoid excess in primary aldosteronism

Por Arlt, Wiebke, Lang, Katharina, Sitch, Alice J., Dietz, Anna S., Rhayem, Yara, Bancos, Irina, Feuchtinger, Annette, Chortis, Vasileios, Gilligan, Lorna C., Ludwig, Philippe, Riester, Anna, Asbach, Evelyn, Hughes, Beverly A., O’Neil, Donna M., Bidlingmaier, Martin, Tomlinson, Jeremy W., Hassan-Smith, Zaki K., Rees, D. Aled, Adolf, Christian, Hahner, Stefanie, Quinkler, Marcus, Dekkers, Tanja, Deinum, Jaap, Biehl, Michael, Keevil, Brian G., Shackleton, Cedric H.L., Deeks, Jonathan J., Walch, Axel K., Beuschlein, Felix, Reincke, Martin
Publicado no JCI Insight (2017)

Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

Por Krone, Nils, Reisch, Nicole, Idkowiak, Jan, Dhir, Vivek, Ivison, Hannah E., Hughes, Beverly A., Rose, Ian T., O'Neil, Donna M., Vijzelaar, Raymon, Smith, Matthew J., MacDonald, Fiona, Cole, Trevor R., Adolphs, Nicolai, Barton, John S., Blair, Edward M., Braddock, Stephen R., Collins, Felicity, Cragun, Deborah L., Dattani, Mehul T., Day, Ruth, Dougan, Shelley, Feist, Miriam, Gottschalk, Michael E., Gregory, John W., Haim, Michaela, Harrison, Rachel, Haskins Olney, Ann, Hauffa, Berthold P., Hindmarsh, Peter C., Hopkin, Robert J., Jira, Petr E., Kempers, Marlies, Kerstens, Michiel N., Khalifa, Mohamed M., Köhler, Birgit, Maiter, Dominique, Nielsen, Shelly, O'Riordan, Stephen M., Roth, Christian L., Shane, Kate P., Silink, Martin, Stikkelbroeck, Nike M. M. L., Sweeney, Elizabeth, Szarras-Czapnik, Maria, Waterson, John R., Williamson, Lori, Hartmann, Michaela F., Taylor, Norman F., Wudy, Stefan A., Malunowicz, Ewa M., Shackleton, Cedric H. L., Arlt, Wiebke
Publicado em 2012