Associated Papers
Structural and catalytic consequences of active-site vs. distal mutations in human dehalogenase: insights from molecular dynamics simulations.
Karmakar S et al.
Physical Chemistry Chemical Physics : Pccp, 2026
Hypothyroidism due to biallelic variants in IYD: description of 4 families and a novel variant.
Boros E et al.
European Journal of Endocrinology, 2024
Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.
Park KS
Genes, 2021
34200080 (PubMed )
Supplement: genes-12-00863-s001.zip › Supplementary_Files_Rev1_v20210529_.xlsx › Table_S4
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
The Caenorhabditis elegans iodotyrosine deiodinase ortholog SUP-18 functions through a conserved channel SC-box to regulate the muscle two-pore domain potassium channel SUP-9.
de la Cruz IP et al.
Plos Genetics, 2014
Iodotyrosine deiodinase defect identified via genome-wide approach.
Burniat A et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
Genetic causes of congenital hypothyroidism due to dyshormonogenesis.
Grasberger H et al.
Current Opinion in Pediatrics, 2011
Genetics and phenomics of hypothyroidism and goiter due to iodotyrosine deiodinase (DEHAL1) gene mutations.
Moreno JC et al.
Molecular and Cellular Endocrinology, 2010
Molecular characterization of iodotyrosine dehalogenase deficiency in patients with hypothyroidism.
Afink G et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
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