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Genet."},{"key":"10.1016\/j.mce.2021.111359_bib62","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1375\/twin.15.1.126","article-title":"Clinical and genetic analysis of a compound heterozygous mutation in the thyroglobulin gene in a Chinese twin family with congenital goiter and hypothyroidism","volume":"15","author":"Liu","year":"2012","journal-title":"Twin Res. Hum. Genet."},{"key":"10.1016\/j.mce.2021.111359_bib63","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/j.jaut.2017.09.003","article-title":"Monogenic Hashimoto thyroiditis associated with a variant in the thyroglobulin (TG) gene","volume":"86","author":"Lo","year":"2018","journal-title":"J. Autoimmun."},{"key":"10.1016\/j.mce.2021.111359_bib64","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1089\/thy.2016.0016","article-title":"Detection of novel gene variants associated with congenital hypothyroidism in a Finnish patient cohort","volume":"26","author":"L\u00f6f","year":"2016","journal-title":"Thyroid"},{"key":"10.1016\/j.mce.2021.111359_bib65","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1507\/endocrj.EJ18-0156","article-title":"Targeted next-generation sequencing of thirteen causative genes in Chinese patients with congenital hypothyroidism","volume":"65","author":"Long","year":"2018","journal-title":"Endocr. J."},{"key":"10.1016\/j.mce.2021.111359_bib66","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1111\/j.1365-2265.2009.03621.x","article-title":"Molecular analysis of congenital goiters with hypothyroidism caused by defective thyroglobulin synthesis. 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Biochem."},{"key":"10.1016\/j.mce.2021.111359_bib69","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1530\/EJE-15-0959","article-title":"Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through puberty","volume":"174","author":"Maruo","year":"2016","journal-title":"Eur. J. Endocrinol."},{"key":"10.1016\/j.mce.2021.111359_bib70","doi-asserted-by":"crossref","first-page":"2838","DOI":"10.1172\/JCI119112","article-title":"Congenital hypothyroid goiter with deficient thyroglobulin. Identification of an Endoplasmic Reticulum Storage Disease with induction of molecular chaperones","volume":"98","author":"Medeiros-Neto","year":"1996","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.mce.2021.111359_bib71","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1530\/eje.0.1450485","article-title":"Genomic organization of the human thyroglobulin gene: the complete intron-exon structure","volume":"145","author":"Mendive","year":"2001","journal-title":"Eur. J. Endocrinol."},{"key":"10.1016\/j.mce.2021.111359_bib72","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1007\/BF03260082","article-title":"Nonsense-associated alternative splicing of the human thyroglobulin gene","volume":"9","author":"Mendive","year":"2005","journal-title":"Mol. Diagn."},{"key":"10.1016\/j.mce.2021.111359_bib73","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1038\/316647a0","article-title":"Primary structure of bovine thyroglobulin deduced from the sequence of its 8,431-base complementary DNA","volume":"316","author":"Mercken","year":"1985","journal-title":"Nature"},{"key":"10.1016\/j.mce.2021.111359_bib74","doi-asserted-by":"crossref","first-page":"D377","DOI":"10.1093\/nar\/gks1118","article-title":"PANTHER in 2013: modeling the evolution of gene function, and other gene attributes, in the context of phylogenetic trees","volume":"41","author":"Mi","year":"2013","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.mce.2021.111359_bib75","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1038\/jhg.2016.62","article-title":"Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability","volume":"61","author":"Mittal","year":"2016","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.mce.2021.111359_bib76","doi-asserted-by":"crossref","first-page":"2669","DOI":"10.2169\/internalmedicine.1163-18","article-title":"Congenital primary hypothyroidism with the homozygous nonsense mutation p.K1374* in the thyroglobulin gene and a normal-sized thyroid gland on levothyroxine replacement","volume":"58","author":"Mizokami","year":"2019","journal-title":"Intern. Med."},{"key":"10.1016\/j.mce.2021.111359_bib77","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1111\/j.1432-1033.1996.0125h.x","article-title":"Characterization of the type-1 repeat from thyroglobulin, a cysteine-rich module found in proteins from different families","volume":"240","author":"Molina","year":"1996","journal-title":"Eur. J. Biochem."},{"key":"10.1016\/j.mce.2021.111359_bib78","first-page":"94","article-title":"A \u201ccustomized\u201d CGH-array thyroarray\u00ae identifies genetic defects in congenital hypothyroidism not detectable by PCR and sequencing. 35th Annual Meeting of the European Thyroid Association, Abstract OP66","author":"Moya","year":"2011","journal-title":"Eur. Thyroid J. 0"},{"key":"10.1016\/j.mce.2021.111359_bib79","doi-asserted-by":"crossref","first-page":"E1838","DOI":"10.1210\/jc.2011-1573","article-title":"Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients","volume":"96","author":"Narumi","year":"2011","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2021.111359_bib80","doi-asserted-by":"crossref","first-page":"3812","DOI":"10.1093\/nar\/gkg509","article-title":"SIFT: predicting amino acid changes that affect protein function","volume":"31","author":"Ng","year":"2003","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.mce.2021.111359_bib81","doi-asserted-by":"crossref","first-page":"4521","DOI":"10.1210\/jc.2016-1879","article-title":"Comprehensive screening of eight causatives genes in congenital hypothyroidism with gland-in-situ","volume":"101","author":"Nicholas","year":"2016","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2021.111359_bib82","doi-asserted-by":"crossref","first-page":"5045","DOI":"10.1210\/jc.2009-0646","article-title":"Six new mutations of the thyroglobulin gene discovered in Taiwanese children presenting with thyroid dyshormonogenesis","volume":"94","author":"Niu","year":"2009","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2021.111359_bib83","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1186\/s40348-017-0074-x","article-title":"Estimated prevalence of potentially damaging variants in the leptin gene","volume":"4","author":"Nunziata","year":"2017","journal-title":"Mol. Cell. Pediatr."},{"key":"10.1016\/j.mce.2021.111359_bib84","doi-asserted-by":"crossref","first-page":"8887","DOI":"10.1016\/S0021-9258(19)38971-9","article-title":"The earliest site of iodination in thyroglobulin is residue number 5","volume":"265","author":"Palumbo","year":"1990","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mce.2021.111359_bib85","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1089\/thy.2007.0321","article-title":"Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations","volume":"18","author":"Pardo","year":"2008","journal-title":"Thyroid"},{"key":"10.1016\/j.mce.2021.111359_bib86","doi-asserted-by":"crossref","first-page":"2938","DOI":"10.1210\/jc.2009-0150","article-title":"The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation","volume":"94","author":"Pardo","year":"2009","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2021.111359_bib87","doi-asserted-by":"crossref","first-page":"17085","DOI":"10.1074\/jbc.M314042200","article-title":"The acetylcholinesterase homology region is essential for normal conformational maturation and secretion of thyroglobulin","volume":"279","author":"Park","year":"2004","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mce.2021.111359_bib88","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1016\/0022-2836(87)90403-7","article-title":"Structural organization of the 5' region of the thyroglobulin gene. Evidence for intron loss and \"exonization\" during evolution","volume":"196","author":"Parma","year":"1987","journal-title":"J. Mol. Biol."},{"key":"10.1016\/j.mce.2021.111359_bib89","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1089\/thy.1996.6.423","article-title":"Thyroglobulin exon 10 gene point mutation in a patient with endemic goiter","volume":"6","author":"P\u00e9rez-Centeno","year":"1996","journal-title":"Thyroid"},{"key":"10.1016\/j.mce.2021.111359_bib90","doi-asserted-by":"crossref","first-page":"3522","DOI":"10.1210\/jc.2009-2109","article-title":"New insights into thyroglobulin pathophysiology revealed by the study of a family with congenital Goiter","volume":"95","author":"Peteiro-Gonzalez","year":"2010","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2021.111359_bib91","doi-asserted-by":"crossref","first-page":"111124","DOI":"10.1016\/j.mce.2020.111124","article-title":"A novel mutation in intron 11 donor splice site, responsible of a rare genotype in thyroglobulin gene by altering the pre-mRNA splincing process. 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Med."},{"key":"10.1016\/j.mce.2021.111359_bib94","doi-asserted-by":"crossref","first-page":"3766","DOI":"10.1210\/jc.2005-0278","article-title":"A new case of congenital goiter with hypothyroidism due to a homozygous p.R277X mutation in the exon 7 of the thyroglobulin gene: a mutational hot spot could explain the recurrence of this mutation","volume":"90","author":"Rivolta","year":"2005","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2021.111359_bib95","doi-asserted-by":"crossref","first-page":"6321","DOI":"10.1093\/nar\/gkg830","article-title":"Intrinsic differences between authentic and cryptic 5\u2019 splice sites","volume":"31","author":"Roca","year":"2003","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.mce.2021.111359_bib96","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1101\/gad.209759.112","article-title":"Pick one, but be quick: 5' splice sites and the problems of too many choices","volume":"27","author":"Roca","year":"2013","journal-title":"Genes Dev."},{"key":"10.1016\/j.mce.2021.111359_bib97","doi-asserted-by":"crossref","first-page":"1013","DOI":"10.1007\/s00438-017-1328-y","article-title":"Arginine CGA codons as a source of nonsense mutations: a possible role in multivariant gene expression, control of mRNA quality, and aging","volume":"292","author":"Romanov","year":"2017","journal-title":"Mol. Genet. 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Metab."},{"key":"10.1016\/j.mce.2021.111359_bib100","doi-asserted-by":"crossref","first-page":"W382","DOI":"10.1093\/nar\/gki387","article-title":"The Foldx web server: an online force field","volume":"33","author":"Schymkowitz","year":"2005","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.mce.2021.111359_bib101","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1093\/nar\/29.1.308","article-title":"dbSNP: the NCBI database of genetic variation","volume":"29","author":"Sherry","year":"2001","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.mce.2021.111359_bib102","first-page":"73","article-title":"Genetic evaluation of congenital hypothyroidism with gland in situ using targeted exome sequencing","volume":"51","author":"Shin","year":"2021","journal-title":"Ann. Clin. Lab. Sci."},{"key":"10.1016\/j.mce.2021.111359_bib103","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.mce.2017.12.009","article-title":"Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism","volume":"473","author":"Siffo","year":"2018","journal-title":"Mol. Cell. Endocrinol."},{"key":"10.1016\/j.mce.2021.111359_bib104","doi-asserted-by":"crossref","first-page":"W452","DOI":"10.1093\/nar\/gks539","article-title":"SIFT web server: predicting effects of amino acid substitutions on proteins","volume":"40","author":"Sim","year":"2012","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.mce.2021.111359_bib105","article-title":"A Novel mutation in the thyroglobulin gene resulting in neonatal goiter and congenital hypothyroidism in an Eritrean infant","author":"Stern","year":"2021","journal-title":"J. Clin. Res. Pediatr. Endocrinol."},{"key":"10.1016\/j.mce.2021.111359_bib106","doi-asserted-by":"crossref","first-page":"545339","DOI":"10.3389\/fendo.2020.545339","article-title":"High diagnostic yield of targeted next-generation sequencing in a cohort of patients with congenital hypothyroidism due to dyshormonogenesis","volume":"11","author":"Stoupa","year":"2021","journal-title":"Front. Endocrinol. (Lausanne)"},{"key":"10.1016\/j.mce.2021.111359_bib107","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1530\/EJE-17-1017","article-title":"The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes","volume":"178","author":"Sun","year":"2018","journal-title":"Eur. J. Endocrinol."},{"key":"10.1016\/j.mce.2021.111359_bib108","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1016\/0006-291X(86)91187-3","article-title":"Analysis of sequence and structure homologies between thyroglobulin and acetylcholinesterase: possible functional and clinical significance","volume":"137","author":"Swillens","year":"1986","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.mce.2021.111359_bib109","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1515\/jpem-2019-0433","article-title":"Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism","volume":"33","author":"Tanaka","year":"2020","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2021.111359_bib110","doi-asserted-by":"crossref","first-page":"2230","DOI":"10.1093\/bioinformatics\/btw222","article-title":"PANTHER-PSEP: predicting disease-causing genetic variants using position-specific evolutionary preservation","volume":"32","author":"Tang","year":"2016","journal-title":"Bioinformatics"},{"key":"10.1016\/j.mce.2021.111359_bib111","first-page":"210","article-title":"A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger","volume":"77","author":"Targovnik","year":"1993","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2021.111359_bib112","first-page":"3356","article-title":"A 138-nucleotide deletion in the thyroglobulin ribonucleic acid messenger in a congenital goiter with defective thyroglobulin synthesis","volume":"80","author":"Targovnik","year":"1995","journal-title":"J. Clin. Endocrinol. 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