Concepedia

Cyp11b1 Mutations

CYP11B1 Mutations is a genetic alteration in the CYP11B1 gene, which encodes 11β-hydroxylase, distinguished by its specific association with impaired cortisol biosynthesis leading to congenital adrenal hyperplasia.

130

Publications

5.5K

Citations

743

Authors

292

Institutions

Publications per year

2017–2026

18

Parents

Publications

130

Steroid metabolome analysis reveals prevalent glucocorticoid excess in primary aldosteronism

Wiebke Arlt, Katharina Lang, Alice Sitch et al. · JCI Insight · 2017 · 276 citations · Full text

, , +17

A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin.

Perrin C. White, Jakob Dupont, M I New et al. · Journal of Clinical Investigation · 1991 · 272 citations · Full text

, , +17

Structural Analysis and Evaluation of the Aldosterone Synthase Gene in Hypertension

Eva Brand, Nathalie Chatelain, Paolo Mulatero et al. · Hypertension · 1998 · 230 citations · Full text

, , +10

Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8.

Kathleen M. Curnow, Liliya Slutsker, Jan Vítek et al. · Proceedings of the National Academy of Sciences · 1993 · 210 citations

, , +17

Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency.

Leigh Pascoe, Kathleen M. Curnow, Liliya Slutsker et al. · Proceedings of the National Academy of Sciences · 1992 · 189 citations

, , +17

1–5 of 130

Authors

743

  1. JC
    John Connell

    University of Glasgow, United Kingdom

    9 publications · 281 citations

    9

    h-index

  2. ED
    Eleanor Davies

    University of Glasgow, United Kingdom

    9 publications · 278 citations

    9

    h-index

  3. RF
    Robert Fraser

    University of Washington, United States

    8 publications · 246 citations

    8

    h-index

  4. PC
    Perrin C. White

    The University of Texas Southwestern Medical Center, United States

    8 publications · 1.1K citations

    8

    h-index

  5. RB
    Rita Bernhardt

    Saarland University, Germany

    7 publications · 218 citations

    7

    h-index

1–5 of 743

Institutions

292

  1. Christian-Albrechts-Universität zu Kiel

    Kiel, Germany

    9 h-index

    33 publications

    1.5K citations

  2. Saarland University

    Saarbrücken, Germany

    8 h-index

    24 publications

    866 citations

  3. Cornell University

    Ithaca, United States

    8 h-index

    36 publications

    4.7K citations

  4. University of Lübeck

    Lübeck, Germany

    6 h-index

    25 publications

    1.1K citations

  5. University Hospital Schleswig-Holstein

    Kiel, Germany

    6 h-index

    25 publications

    1.1K citations

  6. Inserm

    Paris, France

    6 h-index

    34 publications

    3.4K citations

  7. The University of Queensland

    Brisbane, Australia

    5 h-index

    23 publications

    1.4K citations

  8. University of Birmingham

    Birmingham, United Kingdom

    5 h-index

    30 publications

    4.4K citations

1–8 of 292

Venues

  1. The Journal of Clinical Endocrinology & Metabolism

    JCEM · 37 publications · 1.5K citations

    27

    h-index

  2. Clinical Endocrinology

    9 publications · 216 citations

    9

    h-index

  3. Hypertension

    8 publications · 703 citations

    8

    h-index

  4. Hormone Research in Paediatrics

    7 publications · 181 citations

    7

    h-index

  5. 4

    h-index

1–5