Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism-Reference-Cited by-同舟云学术

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Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism

Published:2017-06-16 Issue:9 Volume:102 Page:3085-3090
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Aycan Zehra,Cangul Hakan,Muzza Marina,Bas Veysel N,Fugazzola Laura,Chatterjee V Krishna,Persani Luca,Schoenmakers Nadia

Publisher

The Endocrine Society

Subject

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

Link

http://academic.oup.com/jcem/article-pdf/102/9/3085/19703409/jc.2017-00529.pdf

Reference12 articles.

1. Genetic disorders coupled to ROS deficiency;Redox Biol,2015

2. The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects;J Clin Endocrinol Metab,2014

3. A truncating DUOX2 mutation (R434X) causes severe congenital hypothyroidism;J Pediatr Endocrinol Metab,2014

4. Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism;N Engl J Med,2002

5. Caenorhabditis elegans and human dual oxidase 1 (DUOX1) “peroxidase” domains: insights into heme binding and catalytic activity;J Biol Chem,2009

Cited by 49 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype–Phenotype Correlation;International Journal of Molecular Sciences;2024-08-03

2. Iodine and Thyroid Maternal and Fetal Metabolism during Pregnancy;Metabolites;2023-05-06

3. DUOX1 and DUOX2, DUOXA1 and DUOXA2;NADPH Oxidases Revisited: From Function to Structure;2023

4. Mutation screening of eight genes and comparison of the clinical data in a Chinese cohort with congenital hypothyroidism;Endocrine;2022-09-20

5. MECHANISMS IN ENDOCRINOLOGY: The pathophysiology of transient congenital hypothyroidism;European Journal of Endocrinology;2022-06-20

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