Clinical and molecular characterization of a novel selenocysteine insertion sequence-binding protein 2 (SBP2) gene mutation (R128X). - Wikidata - awgldk - TriplyDB

Clinical and molecular characterization of a novel selenocysteine insertion sequence-binding protein 2 (SBP2) gene mutation (R128X).

Clinical and molecular characterization of a novel selenocysteine insertion sequence-binding protein 2 (SBP2) gene mutation (R128X).

http://www.wikidata.org/entity/Q37379565

about

Inherited defects in thyroid hormone cell-membrane transport and metabolism The syndromes of reduced sensitivity to thyroid hormone Synthesis and decoding of selenocysteine and human health Paradoxical Roles of Antioxidant Enzymes: Basic Mechanisms and Health Implications The syndrome of inherited partial SBP2 deficiency in humans.Selenoproteins: molecular pathways and physiological roles.Selenium, selenoproteins and the thyroid gland: interactions in health and disease.Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans.Identification of nucleotides and amino acids that mediate the interaction between ribosomal protein L30 and the SECIS element Inherited defects of thyroid hormone metabolism The ratio of serum free triiodothyronine to free thyroxine in children: a retrospective database survey of healthy short individuals and patients with severe thyroid hypoplasia or central hypothyroidism.Selenium Status Is Positively Associated with Bone Mineral Density in Healthy Aging European Men.Enhancement of lipid peroxidation and its amelioration by vitamin E in a subject with mutations in the SBP2 gene Role of Thyroid Hormones in Skeletal Development and Bone Maintenance.Physiological role and regulation of iodothyronine deiodinases: a 2011 update.Selenoprotein N in skeletal muscle: from diseases to function.Different causes of reduced sensitivity to thyroid hormone: diagnosis and clinical management.Selenium biochemistry and its role for human health.Selenium: an element for life.Characterization of the UGA-recoding and SECIS-binding activities of SECIS-binding protein 2 Selenoprotein P is the essential selenium transporter for bones.Thyroid Hormone Metabolism Defects in a Mouse Model of SBP2 Deficiency.On elongation factor eEFSec, its role and mechanism during selenium incorporation into nascent selenoproteins.Thyroid hormone status in patients with severe selenium deficiency.Concurrent TSHR mutations and DIO2 T92A polymorphism result in abnormal thyroid hormone metabolism.Selenoproteins in Nervous System Development, Function and Degeneration

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P2860

Clinical and molecular characterization of a novel selenocysteine insertion sequence-binding protein 2 (SBP2) gene mutation (R128X).

http://www.wikidata.org/entity/Q37379565

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

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scientific article published on 14 July 2009

@en

vedecký článok

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vetenskaplig artikel

@sv

videnskabelig artikel

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vědecký článek

@cs

name

Clinical and molecular charact ...... (SBP2) gene mutation (R128X).

@en

Clinical and molecular charact ...... ion sequence-binding protein 2

@nl

type

label

Clinical and molecular charact ...... (SBP2) gene mutation (R128X).

@en

Clinical and molecular charact ...... ion sequence-binding protein 2

@nl

prefLabel

Clinical and molecular charact ...... (SBP2) gene mutation (R128X).

@en

Clinical and molecular charact ...... ion sequence-binding protein 2

@nl

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The Journal of Clinical Endocrinology and Metabolism

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Clinical and molecular charact ...... (SBP2) gene mutation (R128X).

@en

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Caterina Di Cosmo

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Kum Kum Khanna

http://www.w3.org/2001/XMLSchema#string

Laura Papp

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Neil McLellan

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Roy E Weiss

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Samuel Refetoff

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Xiao-Hui Liao

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P2860

The redox state of SECIS binding protein 2 controls its localization and selenocysteine incorporation function

Cellular and molecular basis of deiodinase-regulated thyroid hormone signaling

Deiodinases: implications of the local control of thyroid hormone action

Targeted disruption of the type 2 selenodeiodinase gene (DIO2) results in a phenotype of pituitary resistance to T4

Efficient selenium transfer from mother to offspring in selenoprotein-P-deficient mice enables dose-dependent rescue of phenotypes associated with selenium deficiency

Insight into mammalian selenocysteine insertion: domain structure and ribosome binding properties of Sec insertion sequence binding protein 2

Listening to silence and understanding nonsense: exonic mutations that affect splicing

Selenium supplementation fails to correct the selenoprotein synthesis defect in subjects with SBP2 gene mutations.

Physiological and genetic analyses of inbred mouse strains with a type I iodothyronine 5' deiodinase deficiency.

Biochemical mechanisms of thyroid hormone deiodination.

P304

4003-4009

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scholarly article

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10.1210/JC.2009-0686

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10

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94

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2009-07-14T00:00:00Z

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19602558

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L-selenocysteine

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2758735

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