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Refetoff, Samuel
One or more keywords matched the following items that are connected to Refetoff, Samuel
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Academic Article Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent.
Academic Article Missense mutations of dual oxidase 2 (DUOX2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with DUOX2 maturation factor.
Academic Article A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion.
Academic Article Mice deficient in dual oxidase maturation factors are severely hypothyroid.
Academic Article Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism.
Academic Article Genetic causes of congenital hypothyroidism due to dyshormonogenesis.
Academic Article Aberrant Cerebellar Development in Mice Lacking Dual Oxidase Maturation Factors.
Academic Article Overexpression of Interleukin-4 in the Thyroid of Transgenic Mice Upregulates the Expression of Duox1 and the Anion Transporter Pendrin.
Academic Article DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype.
Academic Article Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families.
Academic Article Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism.
Concept Dual Oxidases
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  • Dual Oxidases