Detalhe da pesquisa
1.
Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome.
Hum Mutat
; 38(3): 260-264, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27805744
2.
Identification of Iodotyrosines as Novel Substrates for the Thyroid Hormone Transporter MCT8.
Thyroid
; 2024 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38661522
3.
Parent Perspectives on Complex Needs in Patients With MCT8 Deficiency: An International, Prospective, Registry Study.
J Clin Endocrinol Metab
; 109(1): e330-e335, 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37450560
4.
Neurologic Complications of Rotavirus Infections in Children.
Pediatr Infect Dis J
; 42(7): 533-536, 2023 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37053595
5.
Selenoprotein deficiency disorder predisposes to aortic aneurysm formation.
Nat Commun
; 14(1): 7994, 2023 Dec 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38042913
6.
IGSF1 Deficiency Leads to Reduced TSH Production Independent of Alterations in Thyroid Hormone Action in Male Mice.
Endocrinology
; 163(8)2022 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35708735
7.
Thyroid Hormone Transporters in a Human Placental Cell Model.
Thyroid
; 32(9): 1129-1137, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35699060
8.
Functional Characterization of the Novel and Specific Thyroid Hormone Transporter SLC17A4.
Thyroid
; 32(3): 326-335, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34937426
9.
Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study.
J Clin Endocrinol Metab
; 107(3): e1136-e1147, 2022 02 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34679181
10.
Monocarboxylate Transporter 8 Deficiency: From Pathophysiological Understanding to Therapy Development.
Front Endocrinol (Lausanne)
; 12: 723750, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34539576
11.
Monocarboxylate transporter 8 deficiency: update on clinical characteristics and treatment.
Endocrine
; 71(3): 689-695, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33650046
12.
Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series.
J Clin Endocrinol Metab
; 106(2): 539-553, 2021 01 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33141165
13.
Thyroid Hormone Transporters.
Endocr Rev
; 41(2)2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31754699
14.
Insights Into the Mechanism of MCT8 Oligomerization.
J Endocr Soc
; 4(8): bvaa080, 2020 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32724870
15.
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.
Lancet Diabetes Endocrinol
; 8(7): 594-605, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32559475
16.
Insight Into Molecular Determinants of T3 vs T4 Recognition From Mutations in Thyroid Hormone Receptor α and ß.
J Clin Endocrinol Metab
; 104(8): 3491-3500, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30817817
17.
The In Vitro Functional Impairment of Thyroid Hormone Receptor Alpha 1 Isoform Mutants Is Mainly Dictated by Reduced Ligand Sensitivity.
Thyroid
; 29(12): 1834-1842, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31530256
18.
In Vitro Characterization of Human, Mouse, and Zebrafish MCT8 Orthologues.
Thyroid
; 29(10): 1499-1510, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31436139
19.
Functional Analysis of Genetic Variation in the SECIS Element of Thyroid Hormone Activating Type 2 Deiodinase.
J Clin Endocrinol Metab
; 104(5): 1369-1377, 2019 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30423129
20.
Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial.
Lancet Diabetes Endocrinol
; 7(9): 695-706, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31377265