P450c17 Deficiency: Clinical and Molecular Characterization of Six Patients-Reference-Cited by-同舟云学术

P450c17 Deficiency: Clinical and Molecular Characterization of Six Patients

Published:2007-03-01 Issue:3 Volume:92 Page:1000-1007
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Rosa S.¹,Duff C.¹,Meyer M.¹,Lang-Muritano M.¹,Balercia G.²,Boscaro M.²,Kemal Topaloglu A.³,Mioni R.⁴,Fallo F.⁴,Zuliani L.⁴,Mantero F.⁵,Schoenle E. J.¹,Biason-Lauber A.¹

Affiliation:

1. University Children’s Hospital Zürich (S.R., C.D., M.M., M.L.-M., E.J.S., A.B.-L.), 8032 Zürich, Switzerland

2. Ospedale Umberto I (G.B., M.B.), 60020 Ancona, Italy

3. Division of Pediatric Endocrinology and Metabolism (A.K.T.), Faculty of Medicine, Cukurova University, 01330 Adana, Turkey

4. Clinica Medica III (F.F., L.Z., R.M.), Division of Endocrinology, University of Padova, 35122 Padova, Italy

5. Department of Medical and Surgical Sciences (F.M.), Division of Endocrinology, University of Padova, 35122 Padova, Italy

Publisher

The Endocrine Society

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/92/3/1000/9054310/jcem1000.pdf

Reference26 articles.

1. Serine phosphorylation of human P450c17 increases 17,20-lyase activity: implications for adrenarche and the polycystic ovary syndrome.;Zhang;Proc Natl Acad Sci USA,1995

2. 17α-hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation.;Biason-Lauber;J Clin Endocrinol Metab,2000

3. A single amino acid substitution in the putative redox partner-binding site of P450c17 as cause of isolated 17,20-lyase deficiency.;Biason-Lauber;J Clin Endocrinol Metab,1997

4. P450c17 mutations R347H and R358Q selectively disrupt 17,20-lyase activity by disrupting interactions with P450 oxidoreductase and cytochrome b5.;Geller;Mol Endocrinol,1999

5. Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency.;Costa-Santos;J Clin Endocrinol Metab,2004

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