The p.Pro2232Leu variant in the ChEL domain of thyroglobulin gene causes intracellular transport disorder and congenital hypothyroidism-Reference-Cited by-同舟云学术

The p.Pro2232Leu variant in the ChEL domain of thyroglobulin gene causes intracellular transport disorder and congenital hypothyroidism

Published:2022-12-22 Issue:1 Volume:80 Page:47-53
ISSN:1559-0100
Container-title:Endocrine
language:en
Short-container-title:Endocrine

Author:

Siffo Sofia,Gomes Pio Mauricio,Martínez Elena Bueno,Lachlan Katherine,Walker Joanna,Weill Jacques,González-Sarmiento Rogelio,Rivolta Carina M.,Targovnik Héctor M.^ORCID

Funder

Fondo de Investigación Sanitaria/FEDER

Publisher

Springer Science and Business Media LLC

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://link.springer.com/content/pdf/10.1007/s12020-022-03284-5.pdf

Reference20 articles.

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2. P. van Trotsenburg, A. Stoupa, J. Léger, T. Rohrer, C. Peters, L. Fugazzola, A. Cassio, C. Heinrichs, V. Beauloye, J. Pohlenz, P. Rodien, R. Coutant, G. Szinnai, P. Murray, B. Bartés, D. Luton, M. Salerno, L. de Sanctis, M. Vigone, H. Krude, L. Persani, M. Polak, Congenital hypothyroidism: a 2020-2021 consensus guidelines update-an ENDO-European reference network initiative endorsed by the European society for pediatric endocrinology and the European society for endocrinology. Thyroid 31, 387–419 (2021). https://doi.org/10.1089/thy.2020.0333

3. S.A.R. van de Graaf, M. Cammenga, N.J. Ponne, G.J.M. Veenboer, M.H. Gons, J. Orgiazzi, J.J.M. de Vijlder, C. Ris-Stalpers, The screening for mutations in the thyroglobulin cDNA from six patients with congenital hypothyroidism. Biochimie 81, 425–432 (1999). https://doi.org/10.1016/s0300-9084(99)80091-1

4. A. Hishinuma, S. Fukata, S. Nishiyama, Y. Nishi, M. Oh-Ishi, Y. Murata, Y. Ohyama, N. Matsuura, K. Kasai, S. Harada, S. Kitanaka, J. Takamatsu, K. Kiwaki, H. Ohye, T. Uruno, C. Tomoda, T. Tajima, K. Kuma, A. Miyauchi, T. Ieiri, Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan. J. Clin. Endocrinol. Metab. 91, 3100–3104 (2006). https://doi.org/10.1210/jc.2005-2702

5. F. Coscia, A. Taler-Verčič, V.T. Chang, L. Sinn, F.J. O’Reilly, T. Izoré, M. Renko, I. Berger, J. Rappsilber, D. Turk, J. Lӧwe, The structure of human thyroglobulin. Nature 578, 627–630 (2020). https://doi.org/10.1038/s41586-020-1995-4

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