Felix G Riepe Selected Research

Pseudohypoaldosteronism

5/2013	Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1.
1/2013	Pseudohypoaldosteronism.
1/2011	Critical points in the management of pseudohypoaldosteronism type 1.
2/2009	Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the alpha subunit of the epithelial sodium channel.
1/2009	Clinical and molecular features of type 1 pseudohypoaldosteronism.
5/2007	Molecular pathogenesis of renal pseudohypoaldosteronism type 1.
2/2007	Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1.
1/2007	Exclusion of serum- and glucocorticoid-induced kinase 1 (SGK1) as a candidate gene for genetically heterogeneous renal pseudohypoaldosteronism type I in eight families.
11/2006	Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1.
9/2006	Recurrence of the R947X mutation in unrelated families with autosomal dominant pseudohypoaldosteronism type 1: evidence for a mutational hot spot in the mineralocorticoid receptor gene.

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Felix G Riepe Research Topics

Disease

14	Congenital Adrenal Hyperplasia (Hyperplasia, Congenital Adrenal) 10/2012 - 09/2002
13	Pseudohypoaldosteronism 05/2013 - 04/2003
4	Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 05/2014 - 01/2005
4	Failure to Thrive 01/2009 - 04/2003
3	Dehydration (Water Stress) 01/2013 - 05/2007
3	Acidosis 01/2013 - 09/2004
2	Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency 05/2020 - 05/2014
2	Precocious Puberty 01/2019 - 01/2004
2	Hyperkalemia 01/2013 - 01/2011
2	Adrenal Insufficiency (Adrenal Gland Hypofunction) 01/2013 - 03/2005
2	Rare Diseases (Rare Disease) 02/2007 - 09/2006
1	Cystic Fibrosis (Mucoviscidosis) 05/2013
1	Lipoid congenital adrenal hyperplasia 01/2013
1	Hyponatremia 01/2013
1	Androgen-Insensitivity Syndrome (Testicular Feminization) 01/2013
1	46,XY Disorder of Sex Development (Male Pseudohermaphroditism) 01/2013
1	Disorders of Sex Development (Intersexuality) 02/2012
1	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 01/2012
1	Familial Hypoadrenocorticism 01/2012
1	Blister (Bulla) 01/2012
1	Intellectual Disability (Idiocy) 01/2012
1	Growth Disorders 12/2011
1	Body Weight (Weight, Body) 12/2011
1	Hypokalemia 01/2011
1	Hypertension (High Blood Pressure) 01/2011
1	Brain Diseases (Brain Disorder) 10/2009
1	Shock 01/2009
1	Virilism (Virilization) 04/2008
1	Adrenal hyperplasia 2 04/2008
1	Hyperandrogenism 12/2007
1	Wasting Syndrome (Wasting Disease) 11/2006
1	Acne Vulgaris 07/2006
1	Familial Testotoxicosis 07/2006
1	Pseudohypoparathyroidism 04/2005
1	Perinatal Death 03/2005
1	Hyperaldosteronism (Conn Syndrome) 09/2004
1	Pre-Eclampsia (Preeclampsia) 02/2004
1	HELLP Syndrome 02/2004
1	Gynecomastia 01/2004

Drug/Important Bio-Agent (IBA)

11	SaltsIBA 05/2013 - 04/2003
7	Mineralocorticoid Receptors (Mineralocorticoid Receptor)IBA 05/2013 - 04/2003
7	SteroidsIBA 10/2012 - 09/2002
6	Steroid 11-beta-Hydroxylase (11 beta-Hydroxylase)IBA 05/2020 - 06/2005
4	MineralocorticoidsIBA 01/2013 - 09/2006
4	Proteins (Proteins, Gene)FDA Link 02/2012 - 04/2005
4	EnzymesIBA 07/2008 - 02/2004
3	AldosteroneIBA 01/2013 - 12/2007
3	Steroid 21-Hydroxylase (21 Hydroxylase)IBA 02/2009 - 01/2005
2	Adrenocorticotropic Hormone (ACTH)FDA Link 01/2019 - 03/2005
2	DNA (Deoxyribonucleic Acid)IBA 01/2013 - 02/2004
2	Mixed Function Oxygenases (Monooxygenases)IBA 02/2012 - 01/2011
2	Hormones (Hormone)IBA 01/2012 - 02/2009
2	SodiumIBA 01/2011 - 05/2007
2	PotassiumIBA 01/2009 - 05/2007
2	HydrogenIBA 01/2009 - 05/2007
2	GlucocorticoidsIBA 01/2007 - 03/2005
1	GonadotropinsIBA 01/2019
1	steroidogenic acute regulatory proteinIBA 01/2013
1	Androgen Receptors (Androgen Receptor)IBA 01/2013
1	ReninIBA 01/2013
1	Codon (Codons)IBA 02/2012
1	HyperglycerolemiaIBA 01/2012
1	Testosterone (Sustanon)FDA Link 01/2012
1	Androstenedione (4 Androstene 3,17 dione)IBA 01/2012
1	Dehydroepiandrosterone (DHEA)IBA 01/2012
1	Insulin-Like Growth Factor I (IGF-1)IBA 12/2011
1	RNA (Ribonucleic Acid)IBA 12/2011
1	AntibodiesIBA 10/2009
1	3 beta-hydroxysteroid dehydrogenase type IIIBA 04/2008
1	Oxidoreductases (Dehydrogenase)IBA 04/2008
1	Hydrocortisone (Cortisol)FDA LinkGeneric 12/2007
1	Phosphotransferases (Kinase)IBA 01/2007
1	Parathyroid Hormone (Parathormone)IBA 04/2005
1	Adenylyl Cyclases (Adenylyl Cyclase)IBA 04/2005
1	Cytochrome P-450 Enzyme System (Cytochrome P450)IBA 01/2005
1	claudin 8IBA 09/2004
1	Nonsense Codon (Nonsense Mutation)IBA 05/2004
1	AndrogensIBA 01/2004
1	Anastrozole (Arimidex)FDA LinkGeneric 01/2004
1	4-(fluoromethyl)phenyl phosphate (FMPP)IBA 01/2004
1	Estrogens (Estrogen)FDA Link 01/2004
1	Aromatase InhibitorsIBA 01/2004
1	PregnenoloneIBA 09/2002
1	17-alpha-Hydroxypregnenolone (17 Hydroxypregnenolone)IBA 09/2002

Therapy/Procedure

1	Ligation 01/2012
1	Therapeutics 01/2004