Concepedia

Molecular and Structural Analysis of Two Novel STAR Mutations in Patients with Lipoid Congenital Adrenal Hyperplasia

John C. Achermann, Joshua J. Meeks, Baxter Jeffs, Urmi Das, Peter Clayton, C G D Brook, J. Larry Jameson

Molecular Genetics and Metabolism · 2001 · 28 citations · 18 references

DOI

Concepts

References

18

Role of Steroidogenic Acute Regulatory Protein in Adrenal and Gonadal Steroidogenesis

Dong Lin, Teruo Sugawara, Jerome F. Strauss et al. · Science · 1995 · 1K citations

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The Pathophysiology and Genetics of Congenital Lipoid Adrenal Hyperplasia

Himangshu S. Bose, Jerome F. Strauss, Walter L. Miller · New England Journal of Medicine · 1996 · 637 citations · Full text

, , +17

Structure and lipid transport mechanism of a StAR-related domain.

James H. Hurley, Yosuke Tsujishita · Nature Structural Biology · 2000 · 552 citations

, , +11

Targeted disruption of the mouse gene encoding steroidogenic acute regulatory protein provides insights into congenital lipoid adrenal hyperplasia

Kathleen M. Caron, Shiu-Ching Soo, William C. Wetsel et al. · Proceedings of the National Academy of Sciences · 1997 · 450 citations

, , +17

Human steroidogenic acute regulatory protein: functional activity in COS-1 cells, tissue-specific expression, and mapping of the structural gene to 8p11.2 and a pseudogene to chromosome 13.

Teruo Sugawara, John A. Holt, Deborah A. Driscoll et al. · Proceedings of the National Academy of Sciences · 1995 · 386 citations

, , +17