Characterization of Novel StAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal Hyperplasia

Adrenal Hyperplasia ◽

Protein Mutations ◽

Clinical, Genetic, and Functional Characterization of Patients with Non-Classic Congenital Lipoid Adrenal Hyperplasia (NCLCAH) and Partial Loss-of-Function Mutations in the Steroidogenic Acute Regulatory Protein (StAR).

10.1210/endo-meetings.2010.part2.p13.p2-624 ◽

2010 ◽

pp. P2-624-P2-624

Author(s):

T Sahakitrungruang ◽

RE Soccio ◽

JC Achermann ◽

WL Miller

Keyword(s):

Functional Characterization ◽

Regulatory Protein ◽

Loss Of Function ◽

Adrenal Hyperplasia ◽

Partial Loss ◽

Clinical Genetic ◽

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 ◽

Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency

Italian Journal of Pediatrics ◽

10.1186/s13052-017-0371-y ◽

2017 ◽

Vol 43 (1) ◽

Cited By ~ 2

Author(s):

Carla Bizzarri ◽

Elisa Pisaneschi ◽

Mafalda Mucciolo ◽

Stefania Pedicelli ◽

Daniela Galeazzi ◽

...

Keyword(s):

Congenital Adrenal Hyperplasia ◽

Adrenal Insufficiency ◽

Gene Mutation ◽

Regulatory Protein ◽

Adrenal Hyperplasia ◽

Steroidogenic Acute Regulatory ◽

Star Gene

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 ◽

Cited By ~ 107

Author(s):

Bo Y. Baker ◽

Lin Lin ◽

Chan J. Kim ◽

Jamal Raza ◽

Claire P. Smith ◽

...

Keyword(s):

Male Genitalia ◽

Regulatory Protein ◽

Late Presentation ◽

Normal Male ◽

Adrenal Hyperplasia ◽

A case report of pedigree of a homozygous mutation of the steroidogenic acute regulatory protein causing lipoid congenital adrenal hyperplasia

Medicine ◽

10.1097/md.0000000000006994 ◽

2017 ◽

Vol 96 (21) ◽

pp. e6994 ◽

Cited By ~ 1

Author(s):

Rong Fu ◽

Lin Lu ◽

Jun Jiang ◽

Min Nie ◽

Xiaojing Wang ◽

...

Keyword(s):

Case Report ◽

Congenital Adrenal Hyperplasia ◽

Regulatory Protein ◽

Homozygous Mutation ◽

Adrenal Hyperplasia ◽

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 ◽

Cited By ~ 77

Author(s):

Meng-Kian Tee ◽

Dong Lin ◽

Teruo Sugawara ◽

John A. Holt ◽

Yann Guiguen ◽

...

Keyword(s):

Human Gene ◽

Regulatory Protein ◽

Splice Acceptor Site ◽

Acceptor Site ◽

Splice Acceptor ◽

Adrenal Hyperplasia ◽

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 ◽

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 ◽

Cited By ~ 30

Author(s):

H. S. Bose

Keyword(s):

Regulatory Protein ◽

Adrenal Hyperplasia ◽

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 ◽

Cited By ~ 14

Author(s):

Paul Saenger

Keyword(s):

Regulatory Protein ◽

Adrenal Hyperplasia ◽

New Developments ◽

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

Biochemistry ◽

10.1021/bi980588a ◽

1998 ◽

Vol 37 (27) ◽

pp. 9768-9775 ◽

Cited By ~ 41

Author(s):

Himangshu S. Bose ◽

Michael A. Baldwin ◽

Walter L. Miller

Keyword(s):

Regulatory Protein ◽

Adrenal Hyperplasia ◽