BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

213 related articles for article (PubMed ID: 18724044)

  • 1. Ovarian histological findings in an adult patient with the steroidogenic acute regulatory protein (StAR) deficiency reveal the impairment of steroidogenesis by lipoid deposition.
    Kaku U; Kameyama K; Izawa M; Yamada M; Miyamoto J; Suzuki T; Sasano H; Hasegawa Y
    Endocr J; 2008 Dec; 55(6):1043-9. PubMed ID: 18724044
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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.
    Bose HS; Pescovitz OH; Miller WL
    J Clin Endocrinol Metab; 1997 May; 82(5):1511-5. PubMed ID: 9141542
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Molecular pathology and mechanism of action of the steroidogenic acute regulatory protein, StAR.
    Miller WL; Strauss JF
    J Steroid Biochem Mol Biol; 1999; 69(1-6):131-41. PubMed ID: 10418987
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Spontaneous puberty in 46,XX subjects with congenital lipoid adrenal hyperplasia. Ovarian steroidogenesis is spared to some extent despite inactivating mutations in the steroidogenic acute regulatory protein (StAR) gene.
    Fujieda K; Tajima T; Nakae J; Sageshima S; Tachibana K; Suwa S; Sugawara T; Strauss JF
    J Clin Invest; 1997 Mar; 99(6):1265-71. PubMed ID: 9077535
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Targeted disruption of the mouse gene encoding steroidogenic acute regulatory protein provides insights into congenital lipoid adrenal hyperplasia.
    Caron KM; Soo SC; Wetsel WC; Stocco DM; Clark BJ; Parker KL
    Proc Natl Acad Sci U S A; 1997 Oct; 94(21):11540-5. PubMed ID: 9326645
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel splicing junction mutation in the gene for the steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia.
    Okuyama E; Nishi N; Onishi S; Itoh S; Ishii Y; Miyanaka H; Fujita K; Ichikawa Y
    J Clin Endocrinol Metab; 1997 Jul; 82(7):2337-42. PubMed ID: 9215316
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Disorders in the initial steps of steroid hormone synthesis.
    Miller WL
    J Steroid Biochem Mol Biol; 2017 Jan; 165(Pt A):18-37. PubMed ID: 26960203
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in the steroidogenic acute regulatory protein (StAR) in six patients with congenital lipoid adrenal hyperplasia.
    Bose HS; Sato S; Aisenberg J; Shalev SA; Matsuo N; Miller WL
    J Clin Endocrinol Metab; 2000 Oct; 85(10):3636-9. PubMed ID: 11061515
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Phenotypic variations in lipoid congenital adrenal hyperplasia.
    Bhangoo A; Anhalt H; Ten S; King SR
    Pediatr Endocrinol Rev; 2006 Mar; 3(3):258-71. PubMed ID: 16639391
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia.
    Flück CE; Pandey AV; Dick B; Camats N; Fernández-Cancio M; Clemente M; Gussinyé M; Carrascosa A; Mullis PE; Audi L
    PLoS One; 2011; 6(5):e20178. PubMed ID: 21647419
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Developmental roles of the steroidogenic acute regulatory protein (StAR) as revealed by StAR knockout mice.
    Hasegawa T; Zhao L; Caron KM; Majdic G; Suzuki T; Shizawa S; Sasano H; Parker KL
    Mol Endocrinol; 2000 Sep; 14(9):1462-71. PubMed ID: 10976923
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Molecular genetic analysis of congenital lipoid adrenal hyperplasia].
    Qiu WJ; Ye J; Han B; Han LS; Gu XF
    Zhonghua Er Ke Za Zhi; 2004 Aug; 42(8):585-8. PubMed ID: 15347444
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Partial defect in the cholesterol side-chain cleavage enzyme P450scc (CYP11A1) resembling nonclassic congenital lipoid adrenal hyperplasia.
    Sahakitrungruang T; Tee MK; Blackett PR; Miller WL
    J Clin Endocrinol Metab; 2011 Mar; 96(3):792-8. PubMed ID: 21159840
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia.
    Nakae J; Tajima T; Sugawara T; Arakane F; Hanaki K; Hotsubo T; Igarashi N; Igarashi Y; Ishii T; Koda N; Kondo T; Kohno H; Nakagawa Y; Tachibana K; Takeshima Y; Tsubouchi K; Strauss JF; Fujieda K
    Hum Mol Genet; 1997 Apr; 6(4):571-6. PubMed ID: 9097960
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular pathogenesis of lipoid adrenal hyperplasia and adrenal hypoplasia congenita.
    Fujieda K; Okuhara K; Abe S; Tajima T; Mukai T; Nakae J
    J Steroid Biochem Mol Biol; 2003 Jun; 85(2-5):483-9. PubMed ID: 12943739
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia.
    Flück CE; Maret A; Mallet D; Portrat-Doyen S; Achermann JC; Leheup B; Theintz GE; Mullis PE; Morel Y
    J Clin Endocrinol Metab; 2005 Sep; 90(9):5304-8. PubMed ID: 15985476
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Congenital lipoid adrenal hyperplasia caused by a novel splicing mutation in the gene for the steroidogenic acute regulatory protein.
    González AA; Reyes ML; Carvajal CA; Tobar JA; Mosso LM; Baquedano P; Solar A; Venegas A; Fardella CE
    J Clin Endocrinol Metab; 2004 Feb; 89(2):946-51. PubMed ID: 14764819
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Homozygous Q258X mutation in the steroidogenic acute regulatory gene in a Japanese patient with congenital lipoid adrenal hyperplasia.
    Katsumata N; Tanae A; Shinagawa T; Nagashima-Miyokawa A; Shimizu M; Yasunaga T; Tanaka T; Hibi I
    Endocr J; 1997 Jun; 44(3):441-6. PubMed ID: 9279522
    [TBL] [Abstract][Full Text] [Related]  

  • 19. STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases.
    Camats N; Pandey AV; Fernández-Cancio M; Fernández JM; Ortega AM; Udhane S; Andaluz P; Audí L; Flück CE
    Clin Endocrinol (Oxf); 2014 Feb; 80(2):191-9. PubMed ID: 23859637
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical disorders associated with abnormal cholesterol transport: mutations in the steroidogenic acute regulatory protein.
    Stocco DM
    Mol Cell Endocrinol; 2002 May; 191(1):19-25. PubMed ID: 12044915
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.