The Clinical and Molecular Characterization of Patients With Dyshormonogenic Congenital Hypothyroidism Reveals Specific Diagnostic Clues for DUOX2 Defects-Reference-Cited by-同舟云学术

The Clinical and Molecular Characterization of Patients With Dyshormonogenic Congenital Hypothyroidism Reveals Specific Diagnostic Clues for DUOX2 Defects

Published:2014-03-01 Issue:3 Volume:99 Page:E544-E553
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Muzza M.¹,Rabbiosi S.²,Vigone M. C.²,Zamproni I.²,Cirello V.¹,Maffini M. A.¹,Maruca K.²,Schoenmakers N.³,Beccaria L.⁴,Gallo F.⁵,Park S.-M.⁶,Beck-Peccoz P.¹,Persani L.⁷,Weber G.²,Fugazzola L.¹

Affiliation:

1. Department of Clinical Sciences and Community Health (M.M., V.C., M.A.M., P.B.-P., L.F.), University of Milan, and Endocrine Unit, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Ca' Granda, 20122 Milan, Italy

2. Department of Pediatrics (S.R., M.C.V., I.Z., K.M., G.W.), San Raffaele Scientific Institute, Vita-Salute San Raffaele University, 21032 Milan, Italy

3. Metabolic Research Laboratories (N.S.), Wellcome Trust-Medical Research Council Institute of Metabolic Science, University of Cambridge, Cambridge CB2 0QQ, United Kingdom

4. Department of Pediatrics (L.B.), A. Manzoni Hospital, 73100 Lecco, Italy

5. Department of Pediatrics (F.G.), Perrino Hospital, 72100 Brindisi, Italy

6. Department of Clinical Genetics (S.-M.P.), Addenbrooke's Hospital, Cambridge CB2 0QQ, United Kingdom

7. Department of Clinical Sciences and Community Health (L.P.), University of Milan, Milan, and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, 20149 Milan, Italy

Publisher

The Endocrine Society

Subject

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

Link

http://academic.oup.com/jcem/article-pdf/99/3/E544/11158206/jcemE544.pdf

Reference26 articles.

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3. Purification of a novel flavoprotein involved in the thyroid NADPH oxidase. Cloning of the porcine and human cDNAs;Dupuy;J Biol Chem,1999

4. Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent;Grasberger;J Biol Chem,2006

5. Heterodimerization controls localization of Duox-DuoxA NADPH oxidases in airway cells;Luxen;J Cell Sci,2009

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