A Novel Compound Heterozygous Mutation in the Steroidogenic Acute Regulatory Protein Gene in a Patient with Congenital Lipoid Adrenal Hyperplasia1

Compound Heterozygous Mutation ◽

Heterozygous Mutation ◽

Compound Heterozygous ◽

A Novel Compound Heterozygous Mutation in the Steroidogenic Acute Regulatory Protein Gene in a Patient with Congenital Lipoid Adrenal Hyperplasia

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.84.11.3983 ◽

1999 ◽

Vol 84 (11) ◽

pp. 3983-3987 ◽

Cited By ~ 8

Author(s):

N. Katsumata

Keyword(s):

Protein Gene ◽

Regulatory Protein ◽

Compound Heterozygous Mutation ◽

Heterozygous Mutation ◽

Compound Heterozygous ◽

Adrenal Hyperplasia ◽

Novel Heterozygous Mutation in the Star (Steroidogenic Acute Regulatory Protein) Gene in a 46,XY Patient with Congenital Lipoid Adrenal Hyperplasia (CLAH)

10.1210/endo-meetings.2011.part3.p14.p2-728 ◽

2011 ◽

pp. P2-728-P2-728

Author(s):

Maria Sonia Baquedano ◽

Gabriela Guercio ◽

Daniela Napoli ◽

Mariana Costanzo ◽

Esperanza Berensztein ◽

...

Keyword(s):

Protein Gene ◽

Regulatory Protein ◽

Heterozygous Mutation ◽

Adrenal Hyperplasia ◽

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 ◽

Cited By ~ 32

Author(s):

Christa E. Flück ◽

Alexander Maret ◽

Delphine Mallet ◽

Stéphanie Portrat-Doyen ◽

John C. Achermann ◽

...

Keyword(s):

Protein Gene ◽

Novel Mutation ◽

Regulatory Protein ◽

Adrenal Hyperplasia ◽

Oxysterol Regulation of Steroidogenic Acute Regulatory Protein Gene Expression

Journal of Biological Chemistry ◽

10.1074/jbc.273.46.30729 ◽

1998 ◽

Vol 273 (46) ◽

pp. 30729-30735 ◽

Cited By ~ 47

Author(s):

Lane K. Christenson ◽

Jan M. McAllister ◽

Kumiko O. Martin ◽

Norman B. Javitt ◽

Tim F. Osborne ◽

...

Keyword(s):

Gene Expression ◽

Protein Gene ◽

Regulatory Protein ◽

Dexamethasone-induced suppression of steroidogenic acute regulatory protein gene expression in mouse Y-1 adrenocortical cells is associated with reduced histone H3 acetylation

Endocrine ◽

10.1007/s12020-007-9030-1 ◽

2007 ◽

Vol 32 (2) ◽

pp. 155-165 ◽

Cited By ~ 2

Author(s):

Wei-Ping Fon ◽

Pi-Hsueh S. Li

Keyword(s):

Gene Expression ◽

Protein Gene ◽

Regulatory Protein ◽

Histone H3 ◽

Adrenocortical Cells ◽

Histone H3 Acetylation ◽

Steroidogenic Acute Regulatory ◽

H3 Acetylation

Steroidogenic Factor-1 Influences Protein-Deoxyribonucleic Acid Interactions within the Cyclic Adenosine 3′,5′-Monophosphate-Responsive Regions of the Murine Steroidogenic Acute Regulatory Protein Gene*

Endocrinology ◽

10.1210/endo.141.4.7412 ◽

2000 ◽

Vol 141 (4) ◽

pp. 1345-1355 ◽

Cited By ~ 48

Author(s):

Clavia R. Wooton-Kee ◽

Barbara J. Clark

Keyword(s):

Deoxyribonucleic Acid ◽

Protein Gene ◽

Regulatory Protein ◽

Steroidogenic Factor 1 ◽

Heat Shock Interferes with Steroidogenesis by Reducing Transcription of the Steroidogenic Acute Regulatory Protein Gene

Molecular Endocrinology ◽

10.1210/mend.15.8.0676 ◽

2001 ◽

Vol 15 (8) ◽

pp. 1255-1263 ◽

Cited By ~ 16

Author(s):

Bruce D. Murphy ◽

Enzo Lalli ◽

Lance P. Walsh ◽

Zhiming Liu ◽

Jaemog Soh ◽

...

Keyword(s):

Heat Shock ◽

Protein Gene ◽

Regulatory Protein ◽

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 ◽

Adrenal Hyperplasia ◽

Frame Shift ◽

Frame Shift Mutation ◽

Mechanisms of Insulin-Like Growth Factor I Augmentation of Follicle-Stimulating Hormone-Induced Porcine Steroidogenic Acute Regulatory Protein Gene Promoter Activity in Granulosa Cells**This work was supported by the Lalor Foundation, NIH National Research Service Awards Grants HD-07382 and HD-08019 (to H.A.L.), HD-16393 and HD-16806 (to J.D.V.), and P30-HD-28934 (Center for Cellular and Molecular Reproduction).

Endocrinology ◽

10.1210/endo.140.1.6407 ◽

1999 ◽

Vol 140 (1) ◽

pp. 146-153 ◽

Cited By ~ 41

Author(s):

Holly A. LaVoie ◽

James C. Garmey ◽

Johannes D. Veldhuis

Keyword(s):

Growth Factor ◽

Promoter Activity ◽

Protein Gene ◽

Follicle Stimulating Hormone ◽

Regulatory Protein ◽

Gene Promoter ◽

Factor I ◽

Steroidogenic Acute Regulatory ◽

Research Service

Multiple Steroidogenic Factor 1 Binding Elements in the Human Steroidogenic Acute Regulatory Protein Gene 5‘-Flanking Region Are Required for Maximal Promoter Activity and Cyclic AMP Responsiveness†

Biochemistry ◽

10.1021/bi9628984 ◽

1997 ◽

Vol 36 (23) ◽

pp. 7249-7255 ◽

Cited By ~ 120

Author(s):

Teruo Sugawara ◽

Marianthi Kiriakidou ◽

Jan M. McAllister ◽

Caleb B. Kallen ◽

Jerome F. Strauss

Keyword(s):

Cyclic Amp ◽

Promoter Activity ◽

Protein Gene ◽

Regulatory Protein ◽

Steroidogenic Factor 1 ◽

Flanking Region ◽