Associated Papers
The First-Ever Investigation of SNP rs119461977 in SECISBP2/SBP2 Gene and its Implications for Hypothyroidism: A Novel Case-Control Research.
Kaur M et al.
Indian Journal of Clinical Biochemistry : Ijcb, 2025
Case Report: A homozygous selenocysteine insertion sequence-binding protein 2 (SECISBP2) gene mutation in a pediatric patient.
Almohammadi L et al.
Frontiers in Pediatrics, 2025
Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency.
Stoupa A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Normal Values for the fT3/fT4 Ratio: Centile Charts (0-29 Years) and Their Application for the Differential Diagnosis of Children with Developmental Delay.
Wilpert NM et al.
International Journal of Molecular Sciences, 2024
2024 European Thyroid Association Guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action.
Persani L et al.
European Thyroid Journal, 2024
Gene polymorphisms and thyroid hormone signaling: implication for the treatment of hypothyroidism.
Penna GC et al.
Endocrine, 2024
Selenoprotein deficiency disorder predisposes to aortic aneurysm formation.
Schoenmakers E et al.
Nature Communications, 2023
Human Genetic Disorders Resulting in Systemic Selenoprotein Deficiency.
Schoenmakers E et al.
International Journal of Molecular Sciences, 2021
Inherited Disorders of Thyroid Hormone Metabolism Defect Caused by the Dysregulation of Selenoprotein Expression.
Lee KW et al.
Frontiers in Endocrinology, 2021
Human Disorders Affecting the Selenocysteine Incorporation Pathway Cause Systemic Selenoprotein Deficiency.
Schoenmakers E et al.
Antioxidants & Redox Signaling, 2020
Role of the Thyroid Gland in Expression of the Thyroid Phenotype of Sbp2-Deficient Mice.
Fujisawa H et al.
Endocrinology, 2020
Clinical and Molecular Analysis in 2 Families With Novel Compound Heterozygous SBP2 (SECISBP2) Mutations.
Fu J et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Iodothyronine deiodinases and reduced sensitivity to thyroid hormones.
Paragliola RM et al.
Frontiers in Bioscience (landmark Edition), 2020
Ribosome profiling of selenoproteins in vivo reveals consequences of pathogenic Secisbp2 missense mutations.
Zhao W et al.
The Journal of Biological Chemistry, 2019
[Differential diagnosis between autoimmune thyrotoxicosis and thyroid hormone resistance syndrome: clinical case report].
Mazurina NV et al.
Problemy Endokrinologii, 2019
A Novel Homozygous Selenocysteine Insertion Sequence Binding Protein 2 (SECISBP2, SBP2) Gene Mutation in a Turkish Boy.
Çatli G et al.
Thyroid : Official Journal of the American Thyroid Association, 2018
Thyroid Hormone Metabolism Defects in a Mouse Model of SBP2 Deficiency.
Fu J et al.
Endocrinology, 2017
Why 21? The significance of selenoproteins for human health revealed by inborn errors of metabolism.
Schweizer U et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2016
[Impaired sensitivity to thyroid hormone].
Kvistad SA et al.
Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke, 2016
Role of Thyroid Hormones in Skeletal Development and Bone Maintenance.
Bassett JH et al.
Endocrine Reviews, 2016
Inherited defects in thyroid hormone cell-membrane transport and metabolism.
Fu J et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2014
The syndromes of reduced sensitivity to thyroid hormone.
Dumitrescu AM et al.
Biochimica Et Biophysica Acta, 2013
Novel compound heterozygous mutations in the SBP2 gene: characteristic clinical manifestations and the implications of GH and triiodothyronine in longitudinal bone growth and maturation.
Hamajima T et al.
European Journal of Endocrinology, 2012
Inherited defects of thyroid hormone metabolism.
Dumitrescu AM et al.
Annales D'endocrinologie, 2011
Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans.
Schoenmakers E et al.
The Journal of Clinical Investigation, 2010
Selenoprotein-related disease in a young girl caused by nonsense mutations in the SBP2 gene.
Azevedo MF et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Genetics and phenomics of selenoenzymes--how to identify an impaired biosynthesis?
Schomburg L
Molecular and Cellular Endocrinology, 2010
The syndrome of inherited partial SBP2 deficiency in humans.
Dumitrescu AM et al.
Antioxidants & Redox Signaling, 2010
Clinical and molecular characterization of a novel selenocysteine insertion sequence-binding protein 2 (SBP2) gene mutation (R128X).
Di Cosmo C et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Resistance to thyroid hormone with and without receptor gene mutations.
Refetoff S
Annales D'endocrinologie, 2003
[Inherited defects of thyroid hormone biosynthesis].
Ieiri T et al.
Ryoikibetsu Shokogun Shirizu, 1993
Inherited defects in thyroid hormone synthesis.
McGirr EM
Annals of Clinical Research, 1972