Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1

Felix G Riepe; Johannes Finkeldei; Luisa de Sanctis; Silvia Einaudi; Alberto Testa; Beate Karges; Michael Peter; Matthias Viemann; Joachim Grötzinger; Wolfgang G Sippell; Geza Fejes-Toth; Nils Krone

doi:10.1210/jc.2006-1161

Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1

Felix G Riepe, Johannes Finkeldei, Luisa de Sanctis, Silvia Einaudi, Alberto Testa, Beate Karges, Michael Peter, Matthias Viemann, Joachim Grötzinger, Wolfgang G Sippell, Geza Fejes-Toth, Nils Krone

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43 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	4552-61
Number of pages	10
Journal	Journal of Clinical Endocrinology and Metabolism
Volume	91
Issue number	11
DOIs	https://doi.org/10.1210/jc.2006-1161
Publication status	Published - 2006

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Riepe, F. G., Finkeldei, J., de Sanctis, L., Einaudi, S., Testa, A., Karges, B., Peter, M., Viemann, M., Grötzinger, J., Sippell, W. G., Fejes-Toth, G., & Krone, N. (2006). Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1. Journal of Clinical Endocrinology and Metabolism, 91(11), 4552-61. https://doi.org/10.1210/jc.2006-1161

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title = "Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1",

abstract = "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.",

author = "Riepe, {Felix G} and Johannes Finkeldei and {de Sanctis}, Luisa and Silvia Einaudi and Alberto Testa and Beate Karges and Michael Peter and Matthias Viemann and Joachim Gr{\"o}tzinger and Sippell, {Wolfgang G} and Geza Fejes-Toth and Nils Krone",

year = "2006",

doi = "10.1210/jc.2006-1161",

language = "English",

volume = "91",

pages = "4552--61",

journal = "Journal of Clinical Endocrinology and Metabolism",

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Riepe, FG, Finkeldei, J, de Sanctis, L, Einaudi, S, Testa, A, Karges, B, Peter, M, Viemann, M, Grötzinger, J, Sippell, WG, Fejes-Toth, G & Krone, N 2006, 'Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1', Journal of Clinical Endocrinology and Metabolism, vol. 91, no. 11, pp. 4552-61. https://doi.org/10.1210/jc.2006-1161

TY - JOUR

T1 - Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1

AU - Riepe, Felix G

AU - Finkeldei, Johannes

AU - de Sanctis, Luisa

AU - Einaudi, Silvia

AU - Testa, Alberto

AU - Karges, Beate

AU - Peter, Michael

AU - Viemann, Matthias

AU - Grötzinger, Joachim

AU - Sippell, Wolfgang G

AU - Fejes-Toth, Geza

AU - Krone, Nils

PY - 2006

Y1 - 2006

N2 - 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.

AB - 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.

U2 - 10.1210/jc.2006-1161

DO - 10.1210/jc.2006-1161

M3 - Article

C2 - 16954160

SN - 0021-972X

VL - 91

SP - 4552

EP - 4561

JO - Journal of Clinical Endocrinology and Metabolism

JF - Journal of Clinical Endocrinology and Metabolism

IS - 11

ER -

Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1

Abstract

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