Riepe FG - Search Results

1

Functional characterization of three CYP21A2 sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system.

Bleicken C, Loidi L, Dhir V, Parajes S, Quinteiro C, Dominguez F, Grötzinger J, Sippell WG, Riepe FG, Arlt W, Krone N. Bleicken C, et al. Among authors: riepe fg. Hum Mutat. 2009 Feb;30(2):E443-50. doi: 10.1002/humu.20926. Hum Mutat. 2009. PMID: 19058224

2

Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene.

Dhir V, Reisch N, Bleicken CM, Lebl J, Kamrath C, Schwarz HP, Grötzinger J, Sippell WG, Riepe FG, Arlt W, Krone N. Dhir V, et al. Among authors: riepe fg. J Clin Endocrinol Metab. 2009 Aug;94(8):3058-64. doi: 10.1210/jc.2009-0172. Epub 2009 May 19. J Clin Endocrinol Metab. 2009. PMID: 19454579

3

Functional characterization of two novel point mutations in the CYP21 gene causing simple virilizing forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Krone N, Riepe FG, Grötzinger J, Partsch CJ, Sippell WG. Krone N, et al. Among authors: riepe fg. J Clin Endocrinol Metab. 2005 Jan;90(1):445-54. doi: 10.1210/jc.2004-0813. Epub 2004 Oct 13. J Clin Endocrinol Metab. 2005. PMID: 15483094

4

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 analysis.

Grischuk Y, Rubtsov P, Riepe FG, Grötzinger J, Beljelarskaia S, Prassolov V, Kalintchenko N, Semitcheva T, Peterkova V, Tiulpakov A, Sippell WG, Krone N. Grischuk Y, et al. Among authors: riepe fg. J Clin Endocrinol Metab. 2006 Dec;91(12):4976-80. doi: 10.1210/jc.2006-0777. Epub 2006 Sep 19. J Clin Endocrinol Metab. 2006. PMID: 16984992

5

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 interaction.

Riepe FG, Hiort O, Grötzinger J, Sippell WG, Krone N, Holterhus PM. Riepe FG, et al. J Clin Endocrinol Metab. 2008 Jul;93(7):2891-5. doi: 10.1210/jc.2007-2646. Epub 2008 Apr 29. J Clin Endocrinol Metab. 2008. PMID: 18445671

6

Congenital adrenal hyperplasia due to 11-hydroxylase deficiency--insights from two novel CYP11B1 mutations (p.M92X, p.R453Q).

Krone N, Grötzinger J, Holterhus PM, Sippell WG, Schwarz HP, Riepe FG. Krone N, et al. Among authors: riepe fg. Horm Res. 2009;72(5):281-6. doi: 10.1159/000245930. Epub 2009 Oct 19. Horm Res. 2009. PMID: 19844114

7

Congenital adrenal hyperplasia: the molecular basis of 21-hydroxylase deficiency in H-2(aw18) mice.

Riepe FG, Tatzel S, Sippell WG, Pleiss J, Krone N. Riepe FG, et al. Endocrinology. 2005 Jun;146(6):2563-74. doi: 10.1210/en.2004-1563. Epub 2005 Feb 24. Endocrinology. 2005. PMID: 15731361

8

Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 gene.

Krone N, Riepe FG, Götze D, Korsch E, Rister M, Commentz J, Partsch CJ, Grötzinger J, Peter M, Sippell WG. Krone N, et al. Among authors: riepe fg. J Clin Endocrinol Metab. 2005 Jun;90(6):3724-30. doi: 10.1210/jc.2005-0089. Epub 2005 Mar 8. J Clin Endocrinol Metab. 2005. PMID: 15755848

9

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 substitutions.

Krone N, Riepe FG, Grötzinger J, Partsch CJ, Brämswig J, Sippell WG. Krone N, et al. Among authors: riepe fg. J Mol Med (Berl). 2005 Jul;83(7):561-8. doi: 10.1007/s00109-005-0655-3. Epub 2005 Apr 14. J Mol Med (Berl). 2005. PMID: 15830218

10

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 deficiency.

Krone N, Grischuk Y, Müller M, Volk RE, Grötzinger J, Holterhus PM, Sippell WG, Riepe FG. Krone N, et al. Among authors: riepe fg. J Clin Endocrinol Metab. 2006 Jul;91(7):2682-8. doi: 10.1210/jc.2006-0209. Epub 2006 May 2. J Clin Endocrinol Metab. 2006. PMID: 16670167

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