Research Topics
Genomes and GenesSpecies | F G RiepeSummaryAffiliation: University of Kiel Country: Germany Publications
| Collaborators
|
Detail Information
Publications
PseudohypoaldosteronismFelix G Riepe
Division of Pediatric Endocrinology, Department of Pediatrics, University Hospital Schleswig Holstein, Kiel, Germany
Endocr Dev 24:86-95. 2013..Urinary tract infections and obstructive uropathies are the most frequent cause. Contrary to PHA1 and PHA2, the glomerular filtration rate is decreased in PHA3...
Intrinsic androgen-dependent gene expression patterns revealed by comparison of genital fibroblasts from normal males and individuals with complete and partial androgen insensitivity syndromePaul Martin Holterhus
Department of Pediatrics, University Hospital Schleswig Holstein, Campus Kiel, Schwanenweg 20, Kiel, Germany
BMC Genomics 8:376. 2007....- Disorders of sex development expose transcriptional autonomy of genetic sex and androgen-programmed hormonal sex in human blood leukocytesPaul Martin Holterhus
Department of Pediatrics, Christian Albrechts University of Kiel, Germany
BMC Genomics 10:292. 2009..g., 46, XY-females due to defective androgen biosynthesis) compared to normal 46, XY-males and 46, XX-females... - Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interactionFelix G Riepe
Division of Pediatric Endocrinology, Department of Pediatrics, University Hospital Schleswig Holstein, Schwanenweg 20, Kiel, Germany
J Clin Endocrinol Metab 93:2891-5. 2008..Congenital adrenal hyperplasia is caused by insufficient adrenal steroid biosynthesis due to impaired steroidogenic enzymes. The majority of patients suffer from deficiency of 21-hydroxylase (CYP21) coded by the CYP21A2 gene... - Clinical and molecular features of type 1 pseudohypoaldosteronismFelix G Riepe
Division of Paediatric Endocrinology, Department of Paediatrics, Christian Albrechts University, University Hospital Schleswig Holstein, Kiel, Germany
Horm Res 72:1-9. 2009..Some mutations are discussed in more detail to demonstrate some of these findings. A better clinical work-up of the patients suffering from PHA1 may delineate additional associations between the genotype and phenotype in the future... 
Exclusion of serum- and glucocorticoid-induced kinase 1 (SGK1) as a candidate gene for genetically heterogeneous renal pseudohypoaldosteronism type I in eight familiesFelix G Riepe
Division of Pediatric Endocrinology, Department of Pediatrics, University Hospital Schleswig Holstein, Campus Kiel, Kiel, Germany
Am J Nephrol 27:164-9. 2007..Therefore variations in the SGK1 gene may aggravate renal salt loss or cause PHA1...- Absence of exercise-induced leptin suppression associated with insufficient epinephrine reserve in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiencyF G Riepe
Division of Pediatric Endocrinology, Department of Pediatrics, Christian Albrechts Universitat Kiel, Kiel, Germany
Exp Clin Endocrinol Diabetes 114:105-10. 2006..In healthy subjects, an inhibitory effect of acute catecholamine elevation on the leptin plasma concentrations has been reported. However, it is not yet known how leptin levels respond to exercise in CAH patients... - Autosomal-dominant pseudohypoaldosteronism type 1 in a Turkish family is associated with a novel nonsense mutation in the human mineralocorticoid receptor geneFelix G Riepe
Department of Pediatrics, Christian Albrechts University Kiel, D 24105 Kiel, Germany
J Clin Endocrinol Metab 89:2150-2. 2004..This shows the incomplete penetrance of the phenotype, although a mild salt loss might have been overlooked in the father's childhood... - Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the alpha subunit of the epithelial sodium channelFelix G Riepe
Division of Paediatric Endocrinology, Department of Paediatrics, Christian Albrechts Universitat zu Kiel, Kiel, Germany
Clin Endocrinol (Oxf) 70:252-8. 2009..Mutations in the three coding genes of the epithelial sodium channel (ENaC) are responsible for the systemic autosomal recessive form. So far, no phenotype has been reported in heterozygous carriers... - Recent advances in diagnosis, treatment, and outcome of congenital adrenal hyperplasia due to 21-hydroxylase deficiencyFelix G Riepe
Division of Pediatric Endocrinology, Department of Pediatrics, Christian Albrechts Universitat Kiel, Schwanenweg 20, 24105, Kiel, Germany
Rev Endocr Metab Disord 8:349-63. 2007..However, many issues are still unresolved, and novel questions, which will have to be answered in the future, arise with every new finding... - Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1Felix G Riepe
Division of Pediatric Endocrinology, Department of Pediatrics, University Hospital Schleswig Holstein, Schwanenweg 20, D 24105 Kiel, Germany
J Clin Endocrinol Metab 91:4552-61. 2006..Pseudohypoaldosteronism type 1 (PHA1) is a rare salt-wasting syndrome. Mutations in the NR3C2 gene coding for the mineralocorticoid receptor (MR) cause autosomal dominant PHA1... - Three novel point mutations of the CYP21 gene detected in classical forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiencyN Krone
Division of Paediatric Endocrinology, Department of Paediatrics, Christian Albrechts Universitat zu Kiel, Universitätsklinikum Schleswig Holstein Campus Kiel, Kiel, Germany
Exp Clin Endocrinol Diabetes 114:111-7. 2006..Knowledge of the residual 21-hydroxylase function improves both genetic counselling and individual clinical management in CAH patients... - Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1Antonio Balsamo
Division of Pediatric Endocrinology, Department of Pediatrics, Policlinico S Orsola Malpighi, University of Bologna, Via Massarenti 11, 40138 Bologna, Italy
Eur J Endocrinol 156:249-56. 2007..The renal form of pseudohypoaldosteronism type 1 (PHA1) is a rare disease caused by mutations in the human mineralocorticoid receptor gene (NR3C2)... - Testosterone synthesis in patients with 17β-hydroxysteroid dehydrogenase 3 deficiencyR Werner
Division of Pediatric Endocrinology, Department of Pediatric and Adolescent Medicine, University of Lubeck, Lubeck, Germany
Sex Dev 6:161-8. 2012..After gonadectomy, both androstenedione and testosterone decline rapidly in vivo. In 17β-HSD 3 deficiency, relevant amounts of testosterone are synthesized most probably through AKR1C3 in the testis and not peripherally in GSF... - Congenital adrenal hyperplasia: the molecular basis of 21-hydroxylase deficiency in H-2(aw18) miceFelix G Riepe
Division of Paediatric Endocrinology, Department of Paediatrics, Christian Albrechts University of Kiel, Schwanenweg 20, D 24105 Kiel, Germany
Endocrinology 146:2563-74. 2005..The underlying genetic mechanisms are also known to be responsible for 21-OHD in humans, so rodent 21-OHD turns out to be an excellent genetic model for studying the human disease... - Congenital lipoid adrenal hyperplasia: functional characterization of three novel mutations in the STAR geneSusanne Bens
Division of Pediatric Endocrinology, Department of Pediatrics, University Hospital Schleswig Holstein, Schwanenweg 20, D 24105 Kiel, Germany
J Clin Endocrinol Metab 95:1301-8. 2010..We speculate that the substitution of hydrophilic glutamine with basic arginine at the surface of the molecule may accelerate cholesterol transfer... - Identification of a novel mutation in the human mineralocorticoid receptor gene in a german family with autosomal-dominant pseudohypoaldosteronism type 1: further evidence for marked interindividual clinical heterogeneityFelix G Riepe
Division of Pediatric Endocrinology, Department of Pediatrics, Christian Albrechts University Kiel, Germany
J Clin Endocrinol Metab 88:1683-6. 2003..It remains to be elucidated whether other defects or polymorphisms in genes coding for regulatory proteins participating in sodium homeostasis are a cause of the heterogeneity of the clinical manifestations in autosomal dominant PHA1... - Serum cortisol and cortisone levels in newborns with congenital adrenal hyperplasia before the start of therapyJ Dotsch
Department of Pediatrics, University of Kiel, Kiel, Germany
J Endocrinol Invest 28:413-6. 2005..While declining plasma aldosterone levels precede the onset of SW in CAH patients, plasma cortisol concentrations are kept normal in SW-CAH infants, temporarily maintaining sufficient mineralocorticoid activity... - No correlation between androgen receptor CAG and GGN repeat length and the degree of genital virilization in females with 21-hydroxylase deficiencyM Welzel
Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, Christian Albrechts University, Schwanenweg 20, D 24105 Kiel, Germany
J Clin Endocrinol Metab 95:2443-50. 2010..However, genital virilization in affected females correlates only weakly with CYP21A2 mutation groups, suggesting the influence of genetic modifiers... - Chromatographic system for the simultaneous measurement of plasma 18-hydroxy-11-deoxycorticosterone and 18-hydroxycorticosterone by radioimmunoassay: reference data for neonates and infants and its application in aldosterone-synthase deficiencyF G Riepe
Division of Paediatric Endocrinology, Department of Paediatrics, Christian Albrechts University Kiel, Schwanenweg 20, 24105 Kiel, Germany
J Chromatogr B Analyt Technol Biomed Life Sci 785:293-301. 2003..Its application for the diagnosis of aldosterone synthase deficiency is demonstrated in two patients with homozygous mutation/deletion in the encoding CYP11B2 gene... - Functional characterization of two novel point mutations in the CYP21 gene causing simple virilizing forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiencyNils Krone
Division of Pediatric Endocrinology, Department of Pediatrics, , , Schwanenweg 20, D-24105 Kiel, Germany
J Clin Endocrinol Metab 90:445-54. 2005..Studying the enzyme function in vitro helps to understand the phenotypical expression and disease severity of 21-hydroxylase deficiency and also provides new insights into cytochrome P450 structure-function relationships... - Principles and clinical applications of liquid chromatography - tandem mass spectrometry for the determination of adrenal and gonadal steroid hormonesA E Kulle
Department of Pediatrics, University Hospital Schleswig Holstein, Christian Albrechts University of Kiel, Kiel, Germany
J Endocrinol Invest 34:702-8. 2011.... - Androgen receptor mutations are associated with altered epigenomic programming as evidenced by HOXA5 methylationS Bens
Institute of Human Genetics, Christian Albrechts University of Kiel and University Hospital Schleswig Holstein, Campus Kiel, Kiel, Germany
Sex Dev 5:70-6. 2011.... - Automated chromatographic system for the simultaneous measurement of plasma pregnenolone and 17-hydroxypregnenolone by radioimmunoassayF G Riepe
Department of Paediatrics, Division of Paediatric Endocrinology, Christian Albrechts University Kiel, Germany
J Chromatogr B Biomed Sci Appl 763:99-106. 2001..Normal values for this assay in young male adults, in adult females, and in prepubertal boys and girls were established as a basis for the functional diagnosis of androgen excess syndromes/steroidogenesis defects... - Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutationF G Riepe
Division of Pediatric Endocrinology, Department of Pediatrics, Christian Albrechts University, D 24105 Kiel, Germany
J Clin Endocrinol Metab 86:4353-7. 2001.... - [Calcinosis cutis in Albright hereditary osteodystrophy: pseudohypoparathyroidism type Ia]R Fölster-Holst
Dermatologie, Venerologie und Allergologie, Universitatsklinikum Schleswig Holstein, Campus Kiel, Germany
Hautarzt 57:893-7. 2006..The diagnosis was confirmed by biochemical and molecular analyses. An unusual feature was calcinosis cutis at such an early age, which led to extensive differential diagnostic procedures... - Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia resulting from 11-hydroxylase deficiencyNils Krone
Division of Pediatric Endocrinology, Department of Pediatrics, Christian Albrechts Universitat zu Kiel, Universitätsklinikum Schleswig Holstein Campus Kiel, Schwanenweg 20, D 24105 Kiel, Germany
J Clin Endocrinol Metab 91:2682-8. 2006..Congenital adrenal hyperplasia is a group of autosomal recessive inherited disorders of steroidogenesis. The deficiency of steroid 11-hydroxylase (CYP11B1) resulting from mutations in the CYP11B1 gene is the second most frequent cause... - Hashimoto encephalopathy in a 15-year-old-girl: EEG findings and follow-upHiltrud Muhle
Department of Neuropediatrics, University Medical Center Schleswig Holstein, Christian Albrechts Universitat zu Kiel, 24105 Kiel, Germany
Pediatr Neurol 41:301-4. 2009..Laboratory findings were in accordance with Hashimoto encephalopathy, which was steroid-responsive... - Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 geneNils Krone
Division of Pediatric Endocrinology, Department of Pediatrics, Christian Albrechts Universitat zu Kiel, Universitatskinderklinik, Schwanenweg 20, D 24105 Kiel, Germany
J Clin Endocrinol Metab 90:3724-30. 2005..Moreover, the combination of in vitro enzyme function and molecular modeling provides new insights in cytochrome P450 structural-functional relationships... - The residue E351 is essential for the activity of human 21-hydroxylase: evidence from a naturally occurring novel point mutation compared with artificial mutants generated by single amino acid substitutionsNils Krone
Division of Pediatric Endocrinology, Department of Pediatrics, Christian Albrechts Universitat zu Kiel, Universitätsklinikum Schleswig Holstein Campus Kiel, Schwanenweg 20, 24105, Kiel, Germany
J Mol Med (Berl) 83:561-8. 2005..The combination of in vitro enzyme function and computerized protein analysis of the E351 residue of the CYP21 protein provides experimental evidence for the ERR triad being a fundamental structural element of cytochrome P450 enzymes... - Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasiaMaik Welzel
Division of Pediatric Endocrinology, Department of Pediatrics, Christian Albrechts Universitat zu Kiel, 24105 Kiel, Germany
J Clin Endocrinol Metab 93:1418-25. 2008..Most mutations are located within domains regarded crucial for enzyme function. The function of the C terminus of the 3beta-HSD protein is not known... - A novel ultrapressure liquid chromatography tandem mass spectrometry method for the simultaneous determination of androstenedione, testosterone, and dihydrotestosterone in pediatric blood samples: age- and sex-specific reference dataA E Kulle
Department of Pediatrics, Christian Albrechts University of Kiel, 24105 Kiel, Germany
J Clin Endocrinol Metab 95:2399-409. 2010..Mass spectrometry-based methods are available for individual steroids but need complex sample preparation and report only fragmentary reference data for the pediatric population... - Management of congenital adrenal hyperplasia: results of the ESPE questionnaireFelix G Riepe
Division of Paediatric Endocrinology, Department of Paediatrics, Christian Albrechts University, Kiel, Germany
Horm Res 58:196-205. 2002..All participating ESPE members feel the need for further improvement in prenatal diagnosis and treatment, compliance during puberty, screening programmes, psychological aspects, and corrective surgery... - Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS geneFelix G Riepe
Department of Pediatrics, Division of Pediatric Endocrinology, , Campus Kiel, , Germany
Eur J Endocrinol 152:515-9. 2005..The possibility of AHO and PHP Ia should be considered in children with hypothyroidism and calcinosis cutis. Systematic reviews regarding the frequency of calcinosis in AHO are warranted... - Disproportionate stature but normal height in hypochondroplasiaFelix G Riepe
Division of Paediatric Endocrinology, Department of Paediatrics, Christian-Albrechts-University of Kiel, Schwanenweg 20, 24105, Kiel, Germany
Eur J Pediatr 164:397-9. 2005 - Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiencyAnne Marie Pulichino
Laboratoire de Genetique Moleculaire, Institut de recherches cliniques de Montreal IRCM, Montreal, Quebec, H2W 1R7 Canada
Genes Dev 17:711-6. 2003..This work defines congenital early onset IAD as a relatively homogeneous clinical entity caused by recessive transmission of loss-of-function mutations in the TPIT gene... - Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysisYulia Grischuk
Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, Russia
J Clin Endocrinol Metab 91:4976-80. 2006..Congenital adrenal hyperplasia is a group of autosomal recessive inherited disorders of steroidogenesis. The most frequent cause is the deficiency of steroid 21-hydroxylase (CYP21) due to mutations in the CYP21A2 gene... - Recurrence of the R947X mutation in unrelated families with autosomal dominant pseudohypoaldosteronism type 1: evidence for a mutational hot spot in the mineralocorticoid receptor geneFabio L Fernandes-Rosa
Department of Pediatrics, , Avenida Bandeirantes, , 14049-900 Sao Paulo, Brazil
J Clin Endocrinol Metab 91:3671-5. 2006..CONCLUSION: Codon 947 of the mineralocorticoid receptor is the first mutational hot spot for autosomal dominant PHA1... - Genetic heterogeneity in autosomal dominant pseudohypoaldosteronism type I: exclusion of claudin-8 as a candidate geneCatherine L Huey
Division of Nephrology, Department of Medicine, University of Southern California Keck School of Medicine, Los Angeles, Calif. 90033, USA
Am J Nephrol 24:483-7. 2004..CONCLUSION: We present further evidence for locus heterogeneity in PHAI. Mutations in claudin-8 are unlikely to be a cause of PHAI. Further studies of other claudins in this disease are warranted... - Long-term follow-up of spontaneous development in a boy with familial male precocious pubertyCarl Joachim Partsch
Children s Hospital, Städtische Kliniken Esslingen, Esslingen a N, Germany
Horm Res 62:177-81. 2004..We report on a boy with FMPP whose growth pattern and pubertal development was studied longitudinally without treatment... - Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutationsSophie Vallette-Kasic
Laboratoire de Genetique Moleculaire, Institut de Recherches Cliniques de Montreal, 110 avenue des Pins Ouest, Montreal, Quebec, Canada
J Clin Endocrinol Metab 90:1323-31. 2005..Identification of TPIT gene mutations as the principal molecular cause of neonatal IAD permits prenatal diagnosis for families at risk for the purpose of early glucocorticoid replacement therapy...