Varaico: Literature-Extracted Genetic Variants

Gene:SECISBP2
Variant:p.Q79*
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SECISBP2

NM_024077.5:p.Q79*

Associated Papers

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

39201272 (PubMed )
Supplement: ijms-25-08585-s001.zip › Table_S1.xlsx › Table_S1

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

38963712 (PubMed )
Supplement: supplementary_table_2.pdf

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

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

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

Enhancement of lipid peroxidation and its amelioration by vitamin E in a subject with mutations in the SBP2 gene.

Saito Y et al.

Journal of Lipid Research, 2015

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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."