Concepedia

Hsd3b2 Mutations

HSD3B2 Mutations is a genetic disorder characterized by pathogenic variants in the HSD3B2 gene that disrupt adrenal steroidogenesis, leading to congenital adrenal hyperplasia due to impaired conversion of Δ5-steroids to Δ4-ketosteroids.

39

Publications

1.6K

Citations

233

Authors

118

Institutions

Publications per year

2017–2026

7

Parents

Publications

39

The Human 3β-Hydroxysteroid Dehydrogenase/Δ5-Δ4 Isomerase Type 2 Promoter Is a Novel Target for the Immediate Early Orphan Nuclear Receptor Nur77 in Steroidogenic Cells

Luc J. Martin, Jacques Tremblay · Endocrinology · 2004 · 125 citations · Full text

, , +17

New Insight into the Molecular Basis of 3β-Hydroxysteroid Dehydrogenase Deficiency: Identification of Eight Mutations in the HSD3B2 Gene in Eleven Patients from Seven New Families and Comparison of the Functional Properties of Twenty-Five Mutant Enzymes1

Anne Marie Moisan, Marie‐Louise Ricketts, Véronique Tardy et al. · The Journal of Clinical Endocrinology & Metabolism · 1999 · 105 citations · Full text

, , +17

Joint effect of HSD3B1 and HSD3B2 genes is associated with hereditary and sporadic prostate cancer susceptibility.

Bao-Li Chang, Siqun L. Zheng, Gregory A. Hawkins et al. · PubMed · 2002 · 92 citations

, , +17

Refining Hormonal Diagnosis of Type II 3β-Hydroxysteroid Dehydrogenase Deficiency in Patients with Premature Pubarche and Hirsutism Based on HSD3B2 Genotyping

Lívia M. Mermejo, Lucila Leico Kagohara Elias, Suemi Marui et al. · The Journal of Clinical Endocrinology & Metabolism · 2005 · 90 citations · Full text

, , +17

GATA Factors and the Nuclear Receptors, Steroidogenic Factor 1/Liver Receptor Homolog 1, Are Key Mutual Partners in the Regulation of the Human 3β-Hydroxysteroid Dehydrogenase Type 2 Promoter

Luc J. Martin, Hiroaki Taniguchi, Nicholas M. Robert et al. · Molecular Endocrinology · 2005 · 84 citations · Full text

, , +17

1–5 of 39

Authors

233

  1. JS
    Jacques Simard

    Université Laval, Canada

    5 publications · 301 citations

    5

    h-index

  2. LJ
    Luc J. Martin

    Université de Moncton, Canada

    2 publications · 209 citations

    2

    h-index

  3. LF
    Lúcio Fábio Caldas Ferraz

    Universidade São Francisco, Brazil

    2 publications · 29 citations

    2

    h-index

  4. SM
    Suemi Marui

    Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, Brazil

    2 publications · 101 citations

    2

    h-index

  5. BB
    Berenice B. Mendonça

    Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, Brazil

    2 publications · 101 citations

    2

    h-index

1–5 of 233

Institutions

118

  1. Centre hospitalier de l'Université Laval

    Québec, Canada

    4 h-index

    8 publications

    782 citations

  2. Université Laval

    Québec, Canada

    4 h-index

    10 publications

    490 citations

  3. University of Southern California

    Los Angeles, United States

    2 h-index

    3 publications

    59 citations

  4. Christian-Albrechts-Universität zu Kiel

    Kiel, Germany

    2 h-index

    7 publications

    385 citations

  5. Sorbonne Université

    Paris, France

    2 h-index

    7 publications

    330 citations

  6. Inserm

    Paris, France

    2 h-index

    6 publications

    468 citations

  7. Medical Council of Canada

    Ottawa, Canada

    2 h-index

    6 publications

    177 citations

  8. Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo

    São Paulo, Brazil

    2 h-index

    5 publications

    188 citations

1–8 of 118

Venues

  1. The Journal of Clinical Endocrinology & Metabolism

    JCEM · 10 publications · 519 citations

    10

    h-index

  2. PubMed

    Repository · 3 publications · 175 citations

    3

    h-index

  3. Human Molecular Genetics

    2 publications · 65 citations

    2

    h-index

  4. Hormone Research in Paediatrics

    2 publications · 55 citations

    2

    h-index

  5. Endocrine Connections

    2 publications · 36 citations

    2

    h-index

1–5