Associated Papers
The role of thyroglobulin in thyroid hormonogenesis.
Citterio CE et al.
Nature Reviews. Endocrinology, 2019
Thyroglobulin From Molecular and Cellular Biology to Clinical Endocrinology.
Di Jeso B et al.
Endocrine Reviews, 2016
Maturation of thyroglobulin protein region I.
Lee J et al.
The Journal of Biological Chemistry, 2011
Thyroglobulin gene mutations in congenital hypothyroidism.
Targovnik HM et al.
Hormone Research in Paediatrics, 2011
Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations.
Targovnik HM et al.
Molecular and Cellular Endocrinology, 2010
Recurrence of the p.R277X/p.R1511X compound heterozygous mutation in the thyroglobulin gene in unrelated families with congenital goiter and hypothyroidism: haplotype analysis using intragenic thyroglobulin polymorphisms.
Caputo M et al.
The Journal of Endocrinology, 2007
Thyroglobulin gene mutations producing defective intracellular transport of thyroglobulin are associated with increased thyroidal type 2 iodothyronine deiodinase activity.
Kanou Y et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
Molecular advances in thyroglobulin disorders.
Rivolta CM et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2006
Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan.
Hishinuma A et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
Naturally occurring mutations in the thyroglobulin gene.
Vono-Toniolo J et al.
Thyroid : Official Journal of the American Thyroid Association, 2005
A new case of congenital goiter with hypothyroidism caused by a homozygous p.R277X mutation in the exon 7 of the thyroglobulin gene: a mutational hot spot could explain the recurrence of this mutation.
Rivolta CM et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Two distinct compound heterozygous constellations (R277X/IVS34-1G>C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis.
Gutnisky VJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G-->A [R2223H]) resulting in fetal goitrous hypothyroidism.
Caron P et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Congenital goiter with hypothyroidism caused by a 5' splice site mutation in the thyroglobulin gene.
Targovnik HM et al.
Thyroid : Official Journal of the American Thyroid Association, 2001