John C Achermann Selected Research

steroidogenic acute regulatory protein

7/2010	Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR).
3/2008	Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc.
12/2006	Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia.
9/2005	A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia.

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John C Achermann Research Topics

Disease

7	Adrenal Insufficiency (Adrenal Gland Hypofunction) 05/2022 - 12/2006
6	Addison Disease (Addison's Disease) 05/2022 - 02/2007
6	Hypogonadism (Hypergonadotropic Hypogonadism) 01/2017 - 02/2003
6	46,XY Disorder of Sex Development (Male Pseudohermaphroditism) 08/2015 - 03/2007
4	Virilism (Virilization) 01/2018 - 12/2006
4	Familial Hypoadrenocorticism 01/2011 - 01/2002
4	Hyperplasia 07/2010 - 09/2005
3	Neoplasms (Cancer) 01/2021 - 03/2020
3	And Genital Anomalies Adrenal Hypoplasia Congenita Metaphyseal Dysplasia Intrauterine Growth Retardation 01/2020 - 05/2012
3	Infections 05/2017 - 02/2007
3	Disorders of Sex Development (Intersexuality) 04/2013 - 03/2007
3	Lipoid congenital adrenal hyperplasia 10/2009 - 09/2005
2	Nephrotic Syndrome (Syndrome, Nephrotic) 05/2022 - 03/2017
2	Hyperpigmentation 01/2022 - 01/2020
2	Primary Ovarian Insufficiency 01/2022 - 08/2015
2	Congenital Adrenal Hyperplasia (Hyperplasia, Congenital Adrenal) 03/2020 - 01/2020
2	Oligospermia (Oligozoospermia) 03/2020 - 12/2006
2	Hypoglycemia (Reactive Hypoglycemia) 01/2020 - 10/2009
2	Sphingolipidoses (Sphingolipidosis) 01/2020 - 03/2017
2	Anorchia 01/2020 - 12/2007
2	Androgen-Insensitivity Syndrome (Testicular Feminization) 12/2019 - 04/2013
2	Fetal Growth Retardation (Intrauterine Growth Retardation) 05/2017 - 01/2007
2	Inborn Genetic Diseases (Disease, Hereditary) 04/2017 - 06/2002
2	Infertility (Sterility) 12/2016 - 08/2015
2	Hypospadias 08/2015 - 08/2009
2	Familial Glucocorticoid Deficiency 1 01/2008 - 01/2007
2	Delayed Puberty 12/2006 - 05/2005
2	Dosage-sensitive sex reversal 01/2003 - 09/2002
1	Hypothyroidism 01/2022
1	Neuroblastoma 01/2021
1	Hypotension (Low Blood Pressure) 01/2020
1	Hyperaldosteronism (Conn Syndrome) 01/2020
1	Bartter Syndrome (Syndrome, Bartter) 01/2020
1	Alkalosis 01/2020
1	Jaundice (Icterus) 01/2020
1	Weight Gain 01/2020
1	46,XY Gonadal Dysgenesis (Swyer Syndrome) 01/2020
1	Uniparental Disomy 01/2020
1	Habitual Abortion (Recurrent Miscarriage) 01/2019
1	Obesity 03/2018
1	monosomy Chromosome 7 05/2017
1	Bone Marrow Failure Disorders 05/2017
1	Fetal Weight 01/2017
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2017
1	Diabetes Mellitus 01/2017
1	Spontaneous Abortion (Miscarriage) 01/2017
1	Thyroid Diseases (Thyroid Disease) 01/2017
1	Hypoparathyroidism 01/2017
1	Amenorrhea 12/2016
1	Ovotesticular Disorders of Sex Development 01/2016
1	Beckwith-Wiedemann Syndrome (Exomphalos Macroglossia Gigantism Syndrome) 05/2012
1	Birth Weight (Birth Weights) 02/2012
1	Endocrine System Diseases (Endocrine Diseases) 04/2011
1	Male Infertility (Male Sterility) 10/2010
1	Cryptorchidism (Undescended Testes) 08/2009
1	Hypopituitarism (Sheehan's Syndrome) 05/2008
1	Anophthalmos (Anophthalmia) 05/2008

Drug/Important Bio-Agent (IBA)

6	Steroidogenic Factor 1IBA 07/2012 - 03/2007
5	Cholesterol Side-Chain Cleavage Enzyme (CYP11A1)IBA 01/2022 - 03/2008
5	GlucocorticoidsIBA 01/2022 - 12/2006
5	Cytoplasmic and Nuclear Receptors (Nuclear Receptors)IBA 01/2020 - 01/2003
5	SteroidsIBA 10/2009 - 01/2004
4	MineralocorticoidsIBA 01/2020 - 12/2006
4	AndrogensIBA 01/2020 - 12/2006
4	steroidogenic acute regulatory proteinIBA 07/2010 - 09/2005
3	Pro-Opiomelanocortin (Proopiomelanocortin)IBA 03/2018 - 01/2007
3	GonadotropinsIBA 12/2016 - 01/2002
3	Transcription Factors (Transcription Factor)IBA 01/2016 - 06/2002
3	Testosterone (Sustanon)FDA Link 04/2013 - 08/2009
2	sphingosine 1-phosphate lyase (aldolase)IBA 05/2022 - 03/2017
2	Proteins (Proteins, Gene)FDA Link 01/2022 - 05/2017
2	Growth Hormone (Somatotropin)IBA 01/2022 - 01/2017
2	DNA (Deoxyribonucleic Acid)IBA 09/2021 - 01/2019
2	Messenger RNA (mRNA)IBA 01/2021 - 01/2021
2	AldosteroneIBA 01/2020 - 12/2006
2	Oxidoreductases (Dehydrogenase)IBA 01/2020 - 12/2019
2	17-alpha-Hydroxyprogesterone (17 Hydroxyprogesterone)IBA 01/2020 - 05/2005
2	SaltsIBA 01/2020 - 02/2007
2	Codon (Codons)IBA 01/2019 - 03/2007
2	Proliferating Cell Nuclear Antigen (PCNA)IBA 01/2019 - 05/2012
2	Hormones (Hormone)IBA 01/2017 - 05/2005
2	Hydrocortisone (Cortisol)FDA LinkGeneric 10/2009 - 12/2006
2	Corticotropin Receptors (ACTH Receptor)IBA 02/2007 - 01/2007
1	6-methyladenineIBA 01/2022
1	Thyrotropin (Thyroid-Stimulating Hormone)FDA Link 01/2022
1	sphingosine 1-phosphate (sphingosine-1-phosphate)IBA 01/2020
1	RNA Helicases (RNA Helicase)IBA 01/2020
1	Adrenocorticotropic Hormone (ACTH)FDA Link 01/2020
1	3 beta-hydroxysteroid dehydrogenase type IIIBA 01/2020
1	ReninIBA 01/2020
1	NucleotidesIBA 01/2019
1	MelanocortinsIBA 03/2018
1	SphingolipidsIBA 03/2017
1	KisspeptinsIBA 01/2017
1	Androgen Receptors (Androgen Receptor)IBA 04/2013
1	Protein Isoforms (Isoforms)IBA 02/2012
1	Cholesterol Esters (Cholesteryl Esters)IBA 04/2011
1	inhibin BIBA 08/2009

Therapy/Procedure

1	Orchiectomy (Orchidectomy) 03/2020
1	Investigational Therapies (Experimental Therapy) 01/2017