Cedric H L Shackleton Selected Research

Oxidoreductases (Dehydrogenase)

1/2020	Reply to Flück et al.: Alternative androgen pathway biosynthesis drives fetal female virilization in P450 oxidoreductase deficiency.
10/2019	Alternative pathway androgen biosynthesis and human fetal female virilization.
5/2014	Diminished 11β-hydroxysteroid dehydrogenase type 2 activity is associated with decreased weight and weight gain across the first year of life.
1/2014	Remission of hypertension and electrolyte abnormalities following renal transplantation in a patient with apparent mineralocorticoid excess well documented throughout childhood.
3/2013	Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency.
2/2012	Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.
1/2012	Role of a disordered steroid metabolome in the elucidation of sterol and steroid biosynthesis.
3/2011	Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.
8/2010	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).
7/2010	Concomitant mutations in the P450 oxidoreductase and androgen receptor genes presenting with 46,XY disordered sex development and androgenization at adrenarche.

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Cedric H L Shackleton Research Topics

Disease

8	Congenital Adrenal Hyperplasia (Hyperplasia, Congenital Adrenal) 10/2021 - 08/2002
7	Smith-Lemli-Opitz Syndrome 07/2013 - 01/2003
4	Cortisone reductase deficiency 01/2012 - 08/2003
3	Virilism (Virilization) 01/2020 - 07/2010
3	Neoplasms (Cancer) 12/2019 - 12/2011
3	Adrenal Insufficiency (Adrenal Gland Hypofunction) 01/2013 - 03/2011
3	Antley-Bixler Syndrome Phenotype 07/2010 - 08/2004
3	Disorders of Sex Development (Intersexuality) 08/2007 - 06/2004
2	Adrenal incidentaloma 01/2020 - 12/2011
2	Overweight 01/2019 - 10/2014
2	X-Linked Ichthyosis (Ichthyosis, X Linked) 01/2016 - 08/2009
2	Obesity 10/2014 - 05/2003
2	Hypogonadism (Hypergonadotropic Hypogonadism) 01/2013 - 03/2011
2	46,XY Disorder of Sex Development (Male Pseudohermaphroditism) 03/2012 - 07/2010
2	Polycystic Ovary Syndrome (Syndrome, Stein-Leventhal) 08/2003 - 10/2002
1	Hyperaldosteronism (Conn Syndrome) 12/2023
1	Adenoma (Adenomas) 12/2023
1	Failure to Thrive 10/2021
1	Ichthyosis (Xeroderma) 01/2016
1	Insulin Resistance 10/2014
1	Metabolic Diseases (Metabolic Disease) 10/2014
1	Diabetes Mellitus 10/2014
1	Weight Gain 05/2014
1	Birth Weight (Birth Weights) 05/2014
1	Alkalosis 01/2014
1	Apparent Mineralocorticoid Excess Syndrome 01/2014
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2014
1	Hypertension (High Blood Pressure) 01/2014
1	Adrenal Cortex Neoplasms (Adrenocortical Cancer) 01/2013
1	Adrenocortical Carcinoma 01/2013
1	Adrenogenital Syndrome 01/2012
1	Spontaneous Rupture 03/2011
1	Ovarian Cysts (Ovarian Cyst) 03/2011
1	Glucocorticoid-Remediable Aldosteronism 08/2010
1	Cholestasis 04/2008
1	Metabolic Syndrome (Dysmetabolic Syndrome X) 03/2006
1	Luteoma 08/2004
1	Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 08/2004
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2003
1	Hyperandrogenism 10/2002

Drug/Important Bio-Agent (IBA)

19	SteroidsIBA 12/2023 - 08/2002
12	Oxidoreductases (Dehydrogenase)IBA 01/2020 - 06/2004
8	AndrogensIBA 01/2020 - 08/2003
7	GlucocorticoidsIBA 10/2014 - 08/2007
5	Hydrocortisone (Cortisol)FDA LinkGeneric 10/2021 - 08/2003
4	MineralocorticoidsIBA 10/2021 - 03/2012
4	EnzymesIBA 10/2014 - 08/2007
4	SterolsIBA 07/2013 - 08/2004
4	11-beta-Hydroxysteroid Dehydrogenase Type 1IBA 10/2008 - 05/2003
3	Steroid 17-alpha-Hydroxylase (17 alpha Hydroxylase)IBA 10/2021 - 03/2012
3	Biomarkers (Surrogate Marker)IBA 10/2014 - 10/2008
3	CholesterolIBA 01/2012 - 09/2006
3	Adrenocorticotropic Hormone (ACTH)FDA Link 03/2011 - 08/2003
3	galactose-6-phosphate dehydrogenaseIBA 10/2008 - 08/2003
2	Mixed Function Oxygenases (Monooxygenases)IBA 10/2021 - 03/2013
2	Testosterone (Sustanon)FDA Link 10/2019 - 03/2011
2	methylamphotericin B (AME)IBA 01/2014 - 08/2010
2	Steroid 21-Hydroxylase (21 Hydroxylase)IBA 03/2013 - 06/2004
2	7-dehydrocholesterol reductaseIBA 01/2012 - 10/2007
2	Cortisone FDA Link 10/2008 - 08/2003
2	17-alpha-Hydroxyprogesterone (17 Hydroxyprogesterone)IBA 08/2004 - 08/2002
1	AldosteroneIBA 12/2023
1	Dehydroepiandrosterone (DHEA)IBA 10/2019
1	Glucose (Dextrose)FDA LinkGeneric 01/2019
1	ElectrolytesIBA 01/2014
1	ReninIBA 01/2014
1	PotassiumIBA 01/2014
1	Spironolactone (Aldactone)FDA LinkGeneric 01/2014
1	OxysterolsIBA 07/2013
1	Cytochrome P-450 Enzyme System (Cytochrome P450)IBA 03/2013
1	Mitotane (Lysodren)FDA Link 01/2013
1	Cytochrome P-450 CYP3AIBA 01/2013
1	Cytochromes b5 (Cytochrome b5)IBA 03/2012
1	Cosyntropin (Cortrosyn)FDA LinkGeneric 02/2012
1	PregnanetriolIBA 01/2012
1	Estrogens (Estrogen)FDA Link 03/2011
1	Progestins (Progestagens)IBA 03/2011
1	Gonadotropin-Releasing Hormone (GnRH)FDA Link 03/2011
1	GonadotropinsIBA 03/2011
1	Mutant Proteins (Protein, Mutant)IBA 07/2010
1	Androgen Receptors (Androgen Receptor)IBA 07/2010
1	Bile Acids and Salts (Bile Acids)IBA 04/2008
1	LanosterolIBA 08/2004
1	Progesterone FDA LinkGeneric 08/2004
1	Fluconazole (Zonal)FDA LinkGeneric 08/2004
1	Insulin-Like Growth Factor I (IGF-1)IBA 05/2003
1	Human Growth Hormone (Saizen)FDA LinkGeneric 05/2003
1	Growth Hormone (Somatotropin)IBA 05/2003
1	Cholestenone 5 alpha-Reductase (5 alpha-Reductase)IBA 10/2002
1	11-beta-Hydroxysteroid Dehydrogenases (11beta Hydroxysteroid Dehydrogenase)IBA 10/2002

Therapy/Procedure

1	Kidney Transplantation 01/2014
1	Therapeutics 01/2013