Mutations in TBL1X Are Associated With Central Hypothyroidism. - Wikidata - awgldk - TriplyDB

Mutations in TBL1X Are Associated With Central Hypothyroidism.

Mutations in TBL1X Are Associated With Central Hypothyroidism.

http://www.wikidata.org/entity/Q37502569

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Pediatric Hypothyroidism: Diagnosis and Treatment.The actions of thyroid hormone signaling in the nucleus.Central hypothyroidism - a neglected thyroid disorder.Congenital Central Hypothyroidism Caused by a Novel Thyroid-Stimulating Hormone-Beta Subunit Gene Mutation in Two Siblings.Congenital hypothyroidism: insights into pathogenesis and treatment.TRH Action Is Impaired in Pituitaries of Male IGSF1-Deficient Mice.NCoR1-independent mechanism plays a role in the action of the unliganded thyroid hormone receptor.Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection.Central Hypothyroidism Due to a TRHR Mutation Causing Impaired Ligand Affinity and Transactivation of Gq.A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome.Two siblings with congenital central hypothyroidism caused by a novel mutation in the IGSF1 gene.2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism

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Mutations in TBL1X Are Associated With Central Hypothyroidism.

http://www.wikidata.org/entity/Q37502569

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 07 September 2016

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Mutations in TBL1X Are Associated With Central Hypothyroidism.

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Mutations in TBL1X Are Associated With Central Hypothyroidism.

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type

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Mutations in TBL1X Are Associated With Central Hypothyroidism.

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Mutations in TBL1X Are Associated With Central Hypothyroidism.

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prefLabel

Mutations in TBL1X Are Associated With Central Hypothyroidism.

@en

Mutations in TBL1X Are Associated With Central Hypothyroidism.

@nl

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The Journal of Clinical Endocrinology and Metabolism

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Mutations in TBL1X Are Associated With Central Hypothyroidism

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A S Paul van Trotsenburg

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Anita Boelen

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Charlotte A Heinen

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Eric Fliers

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Erica L T van den Akker

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Gijs W E Santen

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Jan M Wit

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Mariëlle Alders

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Monique Losekoot

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Nienke R Biermasz

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P2860

X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats

Central Hypothyroidism: Pathogenic, Diagnostic, and Therapeutic Challenges

Purification and functional characterization of the human N-CoR complex: the roles of HDAC3, TBL1 and TBLR1

Isolation and characterization of a novel ligand-dependent thyroid hormone receptor-coactivating protein

Thyroid-stimulating hormone (TSH) deficiency caused by a single base substitution in the CAGYC region of the beta-subunit

Thyroid hormone receptor-binding protein, an LXXLL motif-containing protein, functions as a general coactivator

Structure of RCC1 chromatin factor bound to the nucleosome core particle

Structural basis for the assembly of the SMRT/NCoR core transcriptional repression machinery

Structure of HDAC3 bound to co-repressor and inositol tetraphosphate

A novel mechanism for isolated central hypothyroidism: inactivating mutations in the thyrotropin-releasing hormone receptor gene

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4564-4573

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scholarly article

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10.1210/JC.2016-2531

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12

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Rick Robert van Rijn

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2016-09-07T00:00:00Z

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27603907

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5155687

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