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Iodide Handling Disorders (NIS, TPO, TG, IYD)

Best Practice & Research Clinical Endocrinology & Metabolism, 2017-03, Vol.31 (2), p.195-212

2017

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Targeted Next-Generation Sequencing of Congenital Hypothyroidism-Causative Genes Reveals Unexpected Thyroglobulin Gene Variants in Patients with Iodide Transport Defect

International journal of molecular sciences, 2022-08, Vol.23 (16), p.9251

2022

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Thyroid hormone synthesis continues despite biallelic thyroglobulin mutation with cell death

JCI insight, 2021-06, Vol.6 (11)

2021

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Structural features of thyroglobulin linked to protein trafficking

Protein science, 2023-11, Vol.32 (11), p.e4784-n/a

2023

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Relationship between the dimerization of thyroglobulin and its ability to form triiodothyronine

The Journal of biological chemistry, 2018-03, Vol.293 (13), p.4860-4869

2018

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Thyroglobulin Gene Mutations in Congenital Hypothyroidism

Hormone research in paediatrics, 2011-01, Vol.75 (5), p.311-321

2011

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ATP-Dependent Chromatin Remodeling by the Cockayne Syndrome B DNA Repair-Transcription-Coupling Factor

Molecular and Cellular Biology, 2000-10, Vol.20 (20), p.7643-7653

2000

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Structure and genetic variants of thyroglobulin: Pathophysiological implications

Molecular and cellular endocrinology, 2021-05, Vol.528, p.111227-111227, Article 111227

2021

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Mouse Rad54 affects DNA conformation and DNA-damage-induced Rad51 foci formation

Current biology, 1999-03, Vol.9 (6), p.325-328

1999

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De novo triiodothyronine formation from thyrocytes activated by thyroid-stimulating hormone

The Journal of biological chemistry, 2017-09, Vol.292 (37), p.15434-15444

2017

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Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism

Molecular and cellular endocrinology, 2018-09, Vol.473, p.1-16

2018

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David operation: single center 10-year experience

Journal of cardiovascular surgery, 2015-08, Vol.56 (4), p.639

2015

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p.L571P in the linker domain of rat thyroglobulin causes intracellular retention

Molecular and cellular endocrinology, 2020-04, Vol.505, p.110719, Article 110719

2020

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Novel compound heterozygous Thyroglobulin mutations c.745+1G>A/c.7036+2T>A associated with congenital goiter and hypothyroidism in a Vietnamese family. Identification of a new cryptic 5′ splice site in the exon 6

Molecular and cellular endocrinology, 2015-03, Vol.404, p.102-112

2015

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Human USP3 Is a Chromatin Modifier Required for S Phase Progression and Genome Stability

Current biology, 2007-11, Vol.17 (22), p.1972-1977

2007

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Compound heterozygous DUOX2 gene mutations (c.2335-1G>C/c.3264_3267delCAGC) associated with congenital hypothyroidism. Characterization of complex cryptic splice sites by minigene analysis

Molecular and cellular endocrinology, 2016-01, Vol.419, p.172-184

2016

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New insights into thyroglobulin gene: Molecular analysis of seven novel mutations associated with goiter and hypothyroidism

Molecular and cellular endocrinology, 2013-01, Vol.365 (2), p.277-291

2013

Volltextzugriff (PDF)

Transcriptional Healing

Cell, 2000-05, Vol.101 (5), p.447-450

2000

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Kinetic characterization of human thyroperoxidase. Normal and pathological enzyme expression in Baculovirus System: A molecular model of functional expression

Molecular and cellular endocrinology, 2015-03, Vol.404, p.9-15

2015

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Two novel mutations in the thyroglobulin gene as cause of congenital hypothyroidism: Identification a cryptic donor splice site in the exon 19

Molecular and cellular endocrinology, 2012-01, Vol.348 (1), p.313-321

2012

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DNA damage triggers nucleotide excision repair-dependent monoubiquitylation of histone H2A

Genes & development, 2006-05, Vol.20 (10), p.1343-1352

2006

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Novel mutational mechanism in the thyroglobulin gene: Imperfect DNA inversion as a cause for hereditary hypothyroidism

Molecular and cellular endocrinology, 2013-12, Vol.381 (1-2), p.220-229

2013

Volltextzugriff (PDF)

A new compound heterozygous for c.886C>T/c.2206C>T [p.R277X/p.Q717X] mutations in the thyroglobulin gene as a cause of foetal goitrous hypothyroidism

Clinical endocrinology (Oxford), 2011-04, Vol.74 (4), p.533-535

2011

Volltextzugriff (PDF)

Np95 Is a Histone-Binding Protein Endowed with Ubiquitin Ligase Activity

Molecular and Cellular Biology, 2004-03, Vol.24 (6), p.2526-2535

2004

Volltextzugriff (PDF)

GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer

Nature communications, 2020-08, Vol.11 (1), p.3981-3981, Article 3981

2020

Volltextzugriff (PDF)

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Iodide Handling Disorders (NIS, TPO, TG, IYD)

Targeted Next-Generation Sequencing of Congenital Hypothyroidism-Causative Genes Reveals Unexpected Thyroglobulin Gene Variants in Patients with Iodide Transport Defect

Thyroid hormone synthesis continues despite biallelic thyroglobulin mutation with cell death

Structural features of thyroglobulin linked to protein trafficking

Relationship between the dimerization of thyroglobulin and its ability to form triiodothyronine

Thyroglobulin Gene Mutations in Congenital Hypothyroidism

ATP-Dependent Chromatin Remodeling by the Cockayne Syndrome B DNA Repair-Transcription-Coupling Factor

Structure and genetic variants of thyroglobulin: Pathophysiological implications

Mouse Rad54 affects DNA conformation and DNA-damage-induced Rad51 foci formation

De novo triiodothyronine formation from thyrocytes activated by thyroid-stimulating hormone

Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism

David operation: single center 10-year experience

p.L571P in the linker domain of rat thyroglobulin causes intracellular retention

Novel compound heterozygous Thyroglobulin mutations c.745+1G>A/c.7036+2T>A associated with congenital goiter and hypothyroidism in a Vietnamese family. Identification of a new cryptic 5′ splice site in the exon 6

Human USP3 Is a Chromatin Modifier Required for S Phase Progression and Genome Stability

Compound heterozygous DUOX2 gene mutations (c.2335-1G>C/c.3264_3267delCAGC) associated with congenital hypothyroidism. Characterization of complex cryptic splice sites by minigene analysis

New insights into thyroglobulin gene: Molecular analysis of seven novel mutations associated with goiter and hypothyroidism

Transcriptional Healing

Kinetic characterization of human thyroperoxidase. Normal and pathological enzyme expression in Baculovirus System: A molecular model of functional expression

Two novel mutations in the thyroglobulin gene as cause of congenital hypothyroidism: Identification a cryptic donor splice site in the exon 19

DNA damage triggers nucleotide excision repair-dependent monoubiquitylation of histone H2A

Novel mutational mechanism in the thyroglobulin gene: Imperfect DNA inversion as a cause for hereditary hypothyroidism

A new compound heterozygous for c.886C>T/c.2206C>T [p.R277X/p.Q717X] mutations in the thyroglobulin gene as a cause of foetal goitrous hypothyroidism

Np95 Is a Histone-Binding Protein Endowed with Ubiquitin Ligase Activity

GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer

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