Mutations in the Steroidogenic Acute Regulatory Protein (StAR) in Six Patients with Congenital Lipoid Adrenal Hyperplasia

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.85.10.3636 ◽

2000 ◽

Vol 85 (10) ◽

pp. 3636-3639 ◽

Author(s):

H. S. Bose

Keyword(s):

Regulatory Protein ◽

Steroidogenic Acute Regulatory Protein ◽

Adrenal Hyperplasia ◽

Congenital Lipoid Adrenal Hyperplasia ◽

Steroidogenic Acute Regulatory

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A Novel Mutation L260P of the Steroidogenic Acute Regulatory Protein Gene in Three Unrelated Patients of Swiss Ancestry with Congenital Lipoid Adrenal Hyperplasia

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.2005-0874 ◽

2005 ◽

Vol 90 (9) ◽

pp. 5304-5308 ◽

Author(s):

Christa E. Flück ◽

Alexander Maret ◽

Delphine Mallet ◽

Stéphanie Portrat-Doyen ◽

John C. Achermann ◽

...

Keyword(s):

Protein Gene ◽

Novel Mutation ◽

Regulatory Protein ◽

Steroidogenic Acute Regulatory Protein ◽

Adrenal Hyperplasia ◽

Congenital Lipoid Adrenal Hyperplasia ◽

Steroidogenic Acute Regulatory

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Nonclassic Congenital Lipoid Adrenal Hyperplasia: A New Disorder of the Steroidogenic Acute Regulatory Protein with Very Late Presentation and Normal Male Genitalia

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.2006-1565 ◽

2006 ◽

Vol 91 (12) ◽

pp. 4781-4785 ◽

Author(s):

Bo Y. Baker ◽

Lin Lin ◽

Chan J. Kim ◽

Jamal Raza ◽

Claire P. Smith ◽

...

Keyword(s):

Male Genitalia ◽

Regulatory Protein ◽

Late Presentation ◽

Steroidogenic Acute Regulatory Protein ◽

Normal Male ◽

Adrenal Hyperplasia ◽

Congenital Lipoid Adrenal Hyperplasia ◽

Steroidogenic Acute Regulatory

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T→A transversion 11 bp from a splice acceptor site in the human gene for steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia

Human Molecular Genetics ◽

10.1093/hmg/4.12.2299 ◽

1995 ◽

Vol 4 (12) ◽

pp. 2299-2305 ◽

Author(s):

Meng-Kian Tee ◽

Dong Lin ◽

Teruo Sugawara ◽

John A. Holt ◽

Yann Guiguen ◽

...

Keyword(s):

Regulatory Protein ◽

Steroidogenic Acute Regulatory Protein ◽

Splice Acceptor Site ◽

Acceptor Site ◽

Splice Acceptor ◽

Adrenal Hyperplasia ◽

Congenital Lipoid Adrenal Hyperplasia ◽

Steroidogenic Acute Regulatory

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Congenital lipoid adrenal hyperplasia caused by a frame-shift mutation in the steroidogenic acute regulatory protein gene

HORMONES ◽

10.14310/horm.2002.1198 ◽

2003 ◽

Vol 2 (3) ◽

pp. 179-182

Author(s):

Anastasios Papadimitriou ◽

Ioanna Fountzoula ◽

Georgia Tzortzatou ◽

Himangshu Bose

Keyword(s):

Protein Gene ◽

Regulatory Protein ◽

Steroidogenic Acute Regulatory Protein ◽

Adrenal Hyperplasia ◽

Congenital Lipoid Adrenal Hyperplasia ◽

Frame Shift ◽

Frame Shift Mutation ◽

Steroidogenic Acute Regulatory

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NEW DEVELOPMENTS IN CONGENITAL LIPOID ADRENAL HYPERPLASIA AND STEROIDOGENIC ACUTE REGULATORY PROTEIN

Pediatric Clinics of North America ◽

10.1016/s0031-3955(05)70483-1 ◽

1997 ◽

Vol 44 (2) ◽

pp. 397-421 ◽

Author(s):

Paul Saenger

Keyword(s):

Regulatory Protein ◽

Steroidogenic Acute Regulatory Protein ◽

Adrenal Hyperplasia ◽

New Developments ◽

Congenital Lipoid Adrenal Hyperplasia ◽

Steroidogenic Acute Regulatory

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Incorrect Folding of Steroidogenic Acute Regulatory Protein (StAR) in Congenital Lipoid Adrenal Hyperplasia†

Biochemistry ◽

10.1021/bi980588a ◽

1998 ◽

Vol 37 (27) ◽

pp. 9768-9775 ◽

Author(s):

Himangshu S. Bose ◽

Michael A. Baldwin ◽

Walter L. Miller

Keyword(s):

Regulatory Protein ◽

Steroidogenic Acute Regulatory Protein ◽

Adrenal Hyperplasia ◽

Congenital Lipoid Adrenal Hyperplasia ◽

Steroidogenic Acute Regulatory

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Gonadal Histology with Testicular Carcinomain Situin a 15-Year-Old 46,XY Female Patient with a Premature Termination in the Steroidogenic Acute Regulatory Protein Causing Congenital Lipoid Adrenal Hyperplasia

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jcem.84.5.5694 ◽

1999 ◽

Vol 84 (5) ◽

pp. 1628-1632 ◽

Author(s):

Eckhard Korsch ◽

Michael Peter ◽

Olaf Hiort ◽

Wolfgang G. Sippell ◽

Benno M. Ure ◽

...

Keyword(s):

Female Patient ◽

Premature Termination ◽

Regulatory Protein ◽

Steroidogenic Acute Regulatory Protein ◽

Adrenal Hyperplasia ◽

Congenital Lipoid Adrenal Hyperplasia ◽

Gonadal Histology ◽

Steroidogenic Acute Regulatory ◽

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Spontaneous Feminization in a 46,XX Female Patient with Congenital Lipoid Adrenal Hyperplasia Due to a Homozygous Frameshift Mutation in the Steroidogenic Acute Regulatory Protein

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.82.5.1511 ◽

1997 ◽

Vol 82 (5) ◽

pp. 1511-1515 ◽

Author(s):

H. S. Bose

Keyword(s):

Female Patient ◽

Frameshift Mutation ◽

Regulatory Protein ◽

Steroidogenic Acute Regulatory Protein ◽

Adrenal Hyperplasia ◽

Congenital Lipoid Adrenal Hyperplasia ◽

Steroidogenic Acute Regulatory

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Congenital lipoid adrenal hyperplasia (a rare form of adrenal insufficiency and ambiguous genitalia) caused by a novel mutation of the steroidogenic acute regulatory protein gene

European Journal of Pediatrics ◽

10.1007/s00431-011-1620-5 ◽

2011 ◽

Vol 171 (5) ◽

pp. 787-793 ◽

Author(s):

Oksana Lekarev ◽

Delphine Mallet ◽

Tony Yuen ◽

Yves Morel ◽

Maria I. New

Keyword(s):

Adrenal Insufficiency ◽

Protein Gene ◽

Novel Mutation ◽

Regulatory Protein ◽

Ambiguous Genitalia ◽

Steroidogenic Acute Regulatory Protein ◽

Adrenal Hyperplasia ◽

Rare Form ◽

Congenital Lipoid Adrenal Hyperplasia ◽

Steroidogenic Acute Regulatory

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Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia

Human Molecular Genetics ◽

10.1093/hmg/6.4.571 ◽

1997 ◽

Vol 6 (4) ◽

pp. 571-576 ◽

Author(s):

J Nakae

Keyword(s):

Regulatory Protein ◽

Japanese Patients ◽

Steroidogenic Acute Regulatory Protein ◽

Adrenal Hyperplasia ◽

Congenital Lipoid Adrenal Hyperplasia ◽

Steroidogenic Acute Regulatory ◽

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