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Academic Journal

STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179.

  • Authors : Grasberger H; Department of Internal Medicine, Medical School, University of Michigan, Ann Arbor, MI, USA.; Dumitrescu AM

Subjects: MicroRNAs*/MicroRNAs*/MicroRNAs*/genetics ; Mutation* ; Microsatellite Repeats*/Microsatellite Repeats*/Microsatellite Repeats*/genetics

  • Source: Nature genetics [Nat Genet] 2024 May; Vol. 56 (5), pp. 877-888. Date of Electronic Publication: 2024 May 07.Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Loss-of-function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community.

Subjects: Hyperthyroidism/Hyperthyroidism/Hyperthyroidism/*genetics ; Mutation/Mutation/Mutation/*physiology ; Receptors, Thyrotropin/Receptors, Thyrotropin/Receptors, Thyrotropin/*genetics

  • Source: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2009 May; Vol. 94 (5), pp. 1706-12. Date of Electronic Publication: 2009 Feb 24.Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print-Electronic Cited Medium: Internet

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C-terminal amino acid alteration rather than late termination causes complete deficiency of thyroxine-binding globulin CD-NeuIsenburg.

  • Authors : Moeller LC; Division of Endocrinology, Department of Medicine, University Hospital of Essen Medical School, Hufelandstrasse 55, 45122 Essen, Germany.; Fingerhut A

Subjects: Mutation*; Thyroxine-Binding Proteins/Thyroxine-Binding Proteins/Thyroxine-Binding Proteins/*chemistry ; Thyroxine-Binding Proteins/Thyroxine-Binding Proteins/Thyroxine-Binding Proteins/*deficiency

  • Source: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2006 Aug; Vol. 91 (8), pp. 3215-8. Date of Electronic Publication: 2006 May 30.Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print-Electronic Cited Medium: Print

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  • 1-3 of  3 results for ""Grasberger H""