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
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
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
Human Genetic Disorders Resulting in Systemic Selenoprotein Deficiency.
Schoenmakers E et al.
International Journal of Molecular Sciences, 2021
Human Disorders Affecting the Selenocysteine Incorporation Pathway Cause Systemic Selenoprotein Deficiency.
Schoenmakers E et al.
Antioxidants & Redox Signaling, 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
Gained in translation: The power of digging deep into disease models.
Copeland PR
The Journal of Biological Chemistry, 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
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
Role of Thyroid Hormones in Skeletal Development and Bone Maintenance.
Bassett JH et al.
Endocrine Reviews, 2016
Secisbp2 is essential for embryonic development and enhances selenoprotein expression.
Seeher S et al.
Antioxidants & Redox Signaling, 2014
Inherited defects in thyroid hormone cell-membrane transport and metabolism.
Fu J et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2014
Edgotype: a fundamental link between genotype and phenotype.
Sahni N et al.
Current Opinion in Genetics & Development, 2013
The syndromes of reduced sensitivity to thyroid hormone.
Dumitrescu AM et al.
Biochimica Et Biophysica Acta, 2013
Proteome-wide analysis of amino acid variations that influence protein lysine acetylation.
Suo SB et al.
Journal of Proteome Research, 2013
Inherited defects of thyroid hormone metabolism.
Dumitrescu AM et al.
Annales D'endocrinologie, 2011
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
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
Selenium supplementation fails to correct the selenoprotein synthesis defect in subjects with SBP2 gene mutations.
Schomburg L et al.
Thyroid : Official Journal of the American Thyroid Association, 2009
Altered RNA binding activity underlies abnormal thyroid hormone metabolism linked to a mutation in selenocysteine insertion sequence-binding protein 2.
Bubenik JL et al.
The Journal of Biological Chemistry, 2007
Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination.
Refetoff S et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2007
Novel biological and clinical aspects of thyroid hormone metabolism.
Dumitrescu AM et al.
Endocrine Development, 2007
Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.
Dumitrescu AM et al.
Nature Genetics, 2005
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