Detalhe da pesquisa
1.
Targeted Next-Generation Sequencing of Congenital Hypothyroidism-Causative Genes Reveals Unexpected Thyroglobulin Gene Variants in Patients with Iodide Transport Defect.
Int J Mol Sci
; 23(16)2022 Aug 17.
Artigo
Inglês
| MEDLINE | ID: mdl-36012511
2.
Relationship between the dimerization of thyroglobulin and its ability to form triiodothyronine.
J Biol Chem
; 293(13): 4860-4869, 2018 03 30.
Artigo
Inglês
| MEDLINE | ID: mdl-29440273
3.
De novo triiodothyronine formation from thyrocytes activated by thyroid-stimulating hormone.
J Biol Chem
; 292(37): 15434-15444, 2017 09 15.
Artigo
Inglês
| MEDLINE | ID: mdl-28743746
4.
Structural features of thyroglobulin linked to protein trafficking.
Protein Sci
; 32(11): e4784, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37717261
5.
Structure and genetic variants of thyroglobulin: Pathophysiological implications.
Mol Cell Endocrinol
; 528: 111227, 2021 05 15.
Artigo
Inglês
| MEDLINE | ID: mdl-33689781
6.
Thyroid hormone synthesis continues despite biallelic thyroglobulin mutation with cell death.
JCI Insight
; 6(11)2021 06 08.
Artigo
Inglês
| MEDLINE | ID: mdl-33914707
7.
p.L571P in the linker domain of rat thyroglobulin causes intracellular retention.
Mol Cell Endocrinol
; 505: 110719, 2020 04 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31972331
8.
GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer.
Nat Commun
; 11(1): 3981, 2020 08 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32769997
9.
The role of thyroglobulin in thyroid hormonogenesis.
Nat Rev Endocrinol
; 15(6): 323-338, 2019 06.
Artigo
Inglês
| MEDLINE | ID: mdl-30886364
10.
Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism.
Mol Cell Endocrinol
; 473: 1-16, 2018 09 15.
Artigo
Inglês
| MEDLINE | ID: mdl-29275168
11.
Iodide handling disorders (NIS, TPO, TG, IYD).
Best Pract Res Clin Endocrinol Metab
; 31(2): 195-212, 2017 03.
Artigo
Inglês
| MEDLINE | ID: mdl-28648508
12.
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.
Clin Endocrinol (Oxf)
; 74(4): 533-5, 2011 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-21128992
13.
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.
Mol Cell Endocrinol
; 419: 172-84, 2016 Jan 05.
Artigo
Inglês
| MEDLINE | ID: mdl-26506010
14.
Author Correction: GWAS of thyroid stimulating hormone highlights the pleiotropic effects and inverse association with thyroid cancer.
Nat Commun
; 12(1): 7354, 2021 Dec 16.
Artigo
Inglês
| MEDLINE | ID: mdl-34916535
15.
Kinetic characterization of human thyroperoxidase. Normal and pathological enzyme expression in Baculovirus system: a molecular model of functional expression.
Mol Cell Endocrinol
; 404: 9-15, 2015 Mar 15.
Artigo
Inglês
| MEDLINE | ID: mdl-25576858
16.
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.
Mol Cell Endocrinol
; 404: 102-12, 2015 Mar 15.
Artigo
Inglês
| MEDLINE | ID: mdl-25633667
17.
New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism.
Mol Cell Endocrinol
; 365(2): 277-91, 2013 Jan 30.
Artigo
Inglês
| MEDLINE | ID: mdl-23164529
18.
Novel mutational mechanism in the thyroglobulin gene: imperfect DNA inversion as a cause for hereditary hypothyroidism.
Mol Cell Endocrinol
; 381(1-2): 220-9, 2013 Dec 05.
Artigo
Inglês
| MEDLINE | ID: mdl-23933148
19.
Two novel mutations in the thyroglobulin gene as cause of congenital hypothyroidism: identification a cryptic donor splice site in the exon 19.
Mol Cell Endocrinol
; 348(1): 313-21, 2012 Jan 02.
Artigo
Inglês
| MEDLINE | ID: mdl-21958696
20.
Thyroglobulin gene mutations in congenital hypothyroidism.
Horm Res Paediatr
; 75(5): 311-21, 2011.
Artigo
Inglês
| MEDLINE | ID: mdl-21372558