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

Por Shackleton, Cedric H. L.
Publicado em 2011

GC/MS in Recent Years Has Defined the Normal and Clinically Disordered Steroidome: Will It Soon Be Surpassed by LC/Tandem MS in This Role?

Por Shackleton, Cedric, Pozo, Oscar J, Marcos, Josep
Publicado no J Endocr Soc (2018)

Points: Recognising placental steroid sulphatase deficiency

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

Hair and skin sterols in normal mice and those with deficient dehydrosterol reductase (DHCR7), the enzyme associated with Smith-Lemli-Opitz syndrome

Por Serra, Montserrat, Matabosch, Xavier, Ying, Lee, Watson, Gordon, Shackleton, Cedric
Publicado em 2010

Biochemical and physiological improvement in a mouse model of Smith–Lemli–Opitz syndrome (SLOS) following gene transfer with AAV vectors

Por Ying, Lee, Matabosch, Xavier, Serra, Montserrat, Watson, Berna, Shackleton, Cedric, Watson, Gordon
Publicado em 2014

Delivery of the 7-dehydrocholesterol reductase gene to the central nervous system using adeno-associated virus vector in a mouse model of Smith-Lemli-Opitz Syndrome

Por Pasta, Saloni, Akhile, Omoye, Tabron, Dorothy, Ting, Flora, Shackleton, Cedric, Watson, Gordon
Publicado no Mol Genet Metab Rep (2015)

Steroid production and Excretion by the pregnant mouse, particularly in relation to pregnancies with fetuses deficient in Δ(7)-sterol reductase (Dhcr7), the enzyme associated with...

Por Matabosch, Xavier, Rahman, Mahbuba, Hughes, Beverly, Patel, Shailendra B., Watson, Gordon, Shackleton, Cedric
Publicado em 2009

A Novel Form of Human Mendelian Hypertension Featuring Nonglucocorticoid-Remediable Aldosteronism

Por Geller, David S., Zhang, Junhui, Wisgerhof, Max V., Shackleton, Cedric, Kashgarian, Michael, Lifton, Richard P.
Publicado em 2008

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

Reply to Flück et al.: Alternative androgen pathway biosynthesis drives fetal female virilization in P450 oxidoreductase deficiency

Por Reisch, Nicole, Auchus, Richard J., Shackleton, Cedric H. L., Hanley, Neil A., Arlt, Wiebke
Publicado no Proc Natl Acad Sci U S A (2020)

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

Potential of sterol analysis by liquid chromatography - tandem mass spectrometry for the prenatal diagnosis of Smith-Lemli-Opitz syndrome

Por Griffiths, William J., Wang, Yuqin, Karu, Kersti, Samuel, Emmanuel, McDonnell, Shane, Hornshaw, Martin, Shackleton, Cedric
Publicado em 2008

Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer

Por Matabosch, Xavier, Ying, Lee, Serra, Montserrat, Wassif, Christopher A., Porter, Forbes D., Shackleton, Cedric, Watson, Gordon
Publicado em 2010

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)

Human steroid biosynthesis, metabolism and excretion are differentially reflected by serum and urine steroid metabolomes: A comprehensive review

Por Schiffer, Lina, Barnard, Lise, Baranowski, Elizabeth S., Gilligan, Lorna C., Taylor, Angela E., Arlt, Wiebke, Shackleton, Cedric H.L., Storbeck, Karl-Heinz
Publicado no J Steroid Biochem Mol Biol (2019)

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