A Novel Intronic Pathogenic Variant in STAR With a Dominant Negative Mechanism Causes Attenuated Lipoid Congenital Adrenal Hyperplasia
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A. Larson | N. Meeks | N. Nokoff | E. Finn | Wuyan Chen | K. Kripps | Fang Xu | C. Chambers | Michele Rapp
[1] S. Ida,et al. Clinical features of 57 patients with lipoid congenital adrenal hyperplasia: criteria for nonclassic form revisited. , 2020, The Journal of clinical endocrinology and metabolism.
[2] H. Shibata,et al. Pubertal and Adult Testicular Functions in Nonclassic Lipoid Congenital Adrenal Hyperplasia: A Case Series and Review , 2019, Journal of the Endocrine Society.
[3] A. Tiulpakov,et al. The rare form of congenital adrenal hyperplasia caused by an autosomal dominant form of STAR deficiency , 2018, Problems of Endocrinology.
[4] V. Papadopoulos,et al. Adrenal Mitochondria and Steroidogenesis: From Individual Proteins to Functional Protein Assemblies , 2016, Front. Endocrinol..
[5] A. Belgorosky,et al. Unique dominant negative mutation in the N-terminal mitochondrial targeting sequence of StAR, causing a variant form of congenital lipoid adrenal hyperplasia. , 2013, The Journal of clinical endocrinology and metabolism.
[6] B. Dick,et al. Characterization of Novel StAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal Hyperplasia , 2011, PloS one.
[7] D. Berney,et al. Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency. , 2009, The Journal of clinical endocrinology and metabolism.
[8] W. Miller,et al. Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia. , 2006, The Journal of clinical endocrinology and metabolism.
[9] W. Miller. Androgen biosynthesis from cholesterol to DHEA , 2002, Molecular and Cellular Endocrinology.
[10] H. Watari,et al. Unveiling the mechanism of action and regulation of the steroidogenic acute regulatory protein , 1998, Molecular and Cellular Endocrinology.
[11] W. Miller. Congenital lipoid adrenal hyperplasia: the human gene knockout for the steroidogenic acute regulatory protein. , 1997, Journal of molecular endocrinology.
[12] W. Miller,et al. The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. , 1996, The New England journal of medicine.
[13] A. Rogol,et al. Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis. , 1995, Science.