Supplementary files of the article Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis [Dataset]
Supplementary Notes 1: Case Reports. Supplementary Notes 2: 3D modeling analysis of the identified Thyroid Peroxidase (TPO), Dual Oxidase 2 (DUOX2) and Iodothyrosine Deiodinase I IYD variants. Supplementary Table 1. Human thyroid peroxidase, dual oxidase 2 and iodothyrosine deiodinase missense varia...
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Online Access: | http://hdl.handle.net/10261/329699 https://doi.org/10.1007/s12020-022-03054-3 |
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ftcsic:oai:digital.csic.es:10261/329699 2024-02-11T10:02:45+01:00 Supplementary files of the article Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis [Dataset] Molina, Maricel F. Papendieck, Patricia Sobrero, Gabriela Balbi, Viviana A. Belforte, Fiorella S. Bueno, Elena Adrover, Ezequiela Olcese, María C. Chiesa, Ana Miras, Mirta B. González, Verónica G. Gomes Pio, Mauricio González-Sarmiento, Rogelio Targovnik, Héctor M. Rivolta, Carina M. 2022 application/pdf http://hdl.handle.net/10261/329699 https://doi.org/10.1007/s12020-022-03054-3 en eng Springer Nature Molina, Maricel F.; Papendieck, Patricia; Sobrero, Gabriela; Balbi, Viviana A.; Belforte, Fiorella S.; Bueno, Elena; Adrover, Ezequiela; Olcese, María C.; Chiesa, Ana; Miras, Mirta B.; González, Verónica G.; Gomes Pio, Mauricio; González-Sarmiento, Rogelio; Targovnik, Héctor M.; Rivolta, Carina M. Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis. http://hdl.handle.net/10261/282986. http://dx.doi.org/10.1007/s12020-022-03054-3 http://dx.doi.org/10.1007/s12020-022-03054-3 Sí Molina, Maricel F.; Papendieck, Patricia; Sobrero, Gabriela; Balbi, Viviana A.; Belforte, Fiorella S.; Bueno, Elena; Adrover, Ezequiela; Olcese, María C.; Chiesa, Ana; Miras, Mirta B.; González, Verónica G.; Gomes Pio, Mauricio; González-Sarmiento, Rogelio; Targovnik, Héctor M.; Rivolta, Carina M.; 2022; Supplementary files of the article Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis [Dataset]; Springer Nature; http://dx.doi.org/10.1007/s12020-022-03054-3 http://hdl.handle.net/10261/329699 doi:10.1007/s12020-022-03054-3 none dataset 2022 ftcsic https://doi.org/10.1007/s12020-022-03054-3 2024-01-16T11:50:10Z Supplementary Notes 1: Case Reports. Supplementary Notes 2: 3D modeling analysis of the identified Thyroid Peroxidase (TPO), Dual Oxidase 2 (DUOX2) and Iodothyrosine Deiodinase I IYD variants. Supplementary Table 1. Human thyroid peroxidase, dual oxidase 2 and iodothyrosine deiodinase missense variants identified and their analysis with amino acid substitution prediction tools. Supplementary Table 2. Identification of human Thyroid Peroxidase (TPO) variants by Next-Generation Sequencing (NGS). Supplementary Table 3. Identification of human Dual Oxidase 2 (DUOX2) variants by Next-Generation Sequencing (NGS). Supplementary Figure 1. Differential diagnosis in patients with thyroid dyshormonogenesis. Supplementary Figure 2. Partial protein alignment of the Homo sapiens, Camelus dromedarius, Rattus norvegicus, Mus musculus, Culex quinquefasciatus, Sus scrofa, Lynx Canadensis, Xenopus tropicalis and Canis lupus familiaris thyroid peroxidase (TPO) species. Supplementary Figure 3. Partial protein alignment of the Homo sapiens, Mustela erminea, Sus scrofa, Mus musculus, Lynx canadensis, Bos taurus, Gallus gallus, Pan troglodytes dual oxidase 2 (DUOX2) species. Peer reviewed Dataset Canis lupus Lynx Digital.CSIC (Spanish National Research Council) |
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Digital.CSIC (Spanish National Research Council) |
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ftcsic |
language |
English |
description |
Supplementary Notes 1: Case Reports. Supplementary Notes 2: 3D modeling analysis of the identified Thyroid Peroxidase (TPO), Dual Oxidase 2 (DUOX2) and Iodothyrosine Deiodinase I IYD variants. Supplementary Table 1. Human thyroid peroxidase, dual oxidase 2 and iodothyrosine deiodinase missense variants identified and their analysis with amino acid substitution prediction tools. Supplementary Table 2. Identification of human Thyroid Peroxidase (TPO) variants by Next-Generation Sequencing (NGS). Supplementary Table 3. Identification of human Dual Oxidase 2 (DUOX2) variants by Next-Generation Sequencing (NGS). Supplementary Figure 1. Differential diagnosis in patients with thyroid dyshormonogenesis. Supplementary Figure 2. Partial protein alignment of the Homo sapiens, Camelus dromedarius, Rattus norvegicus, Mus musculus, Culex quinquefasciatus, Sus scrofa, Lynx Canadensis, Xenopus tropicalis and Canis lupus familiaris thyroid peroxidase (TPO) species. Supplementary Figure 3. Partial protein alignment of the Homo sapiens, Mustela erminea, Sus scrofa, Mus musculus, Lynx canadensis, Bos taurus, Gallus gallus, Pan troglodytes dual oxidase 2 (DUOX2) species. Peer reviewed |
format |
Dataset |
author |
Molina, Maricel F. Papendieck, Patricia Sobrero, Gabriela Balbi, Viviana A. Belforte, Fiorella S. Bueno, Elena Adrover, Ezequiela Olcese, María C. Chiesa, Ana Miras, Mirta B. González, Verónica G. Gomes Pio, Mauricio González-Sarmiento, Rogelio Targovnik, Héctor M. Rivolta, Carina M. |
spellingShingle |
Molina, Maricel F. Papendieck, Patricia Sobrero, Gabriela Balbi, Viviana A. Belforte, Fiorella S. Bueno, Elena Adrover, Ezequiela Olcese, María C. Chiesa, Ana Miras, Mirta B. González, Verónica G. Gomes Pio, Mauricio González-Sarmiento, Rogelio Targovnik, Héctor M. Rivolta, Carina M. Supplementary files of the article Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis [Dataset] |
author_facet |
Molina, Maricel F. Papendieck, Patricia Sobrero, Gabriela Balbi, Viviana A. Belforte, Fiorella S. Bueno, Elena Adrover, Ezequiela Olcese, María C. Chiesa, Ana Miras, Mirta B. González, Verónica G. Gomes Pio, Mauricio González-Sarmiento, Rogelio Targovnik, Héctor M. Rivolta, Carina M. |
author_sort |
Molina, Maricel F. |
title |
Supplementary files of the article Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis [Dataset] |
title_short |
Supplementary files of the article Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis [Dataset] |
title_full |
Supplementary files of the article Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis [Dataset] |
title_fullStr |
Supplementary files of the article Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis [Dataset] |
title_full_unstemmed |
Supplementary files of the article Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis [Dataset] |
title_sort |
supplementary files of the article mutational screening of the tpo and duox2 genes in argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis [dataset] |
publisher |
Springer Nature |
publishDate |
2022 |
url |
http://hdl.handle.net/10261/329699 https://doi.org/10.1007/s12020-022-03054-3 |
genre |
Canis lupus Lynx |
genre_facet |
Canis lupus Lynx |
op_relation |
Molina, Maricel F.; Papendieck, Patricia; Sobrero, Gabriela; Balbi, Viviana A.; Belforte, Fiorella S.; Bueno, Elena; Adrover, Ezequiela; Olcese, María C.; Chiesa, Ana; Miras, Mirta B.; González, Verónica G.; Gomes Pio, Mauricio; González-Sarmiento, Rogelio; Targovnik, Héctor M.; Rivolta, Carina M. Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis. http://hdl.handle.net/10261/282986. http://dx.doi.org/10.1007/s12020-022-03054-3 http://dx.doi.org/10.1007/s12020-022-03054-3 Sí Molina, Maricel F.; Papendieck, Patricia; Sobrero, Gabriela; Balbi, Viviana A.; Belforte, Fiorella S.; Bueno, Elena; Adrover, Ezequiela; Olcese, María C.; Chiesa, Ana; Miras, Mirta B.; González, Verónica G.; Gomes Pio, Mauricio; González-Sarmiento, Rogelio; Targovnik, Héctor M.; Rivolta, Carina M.; 2022; Supplementary files of the article Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis [Dataset]; Springer Nature; http://dx.doi.org/10.1007/s12020-022-03054-3 http://hdl.handle.net/10261/329699 doi:10.1007/s12020-022-03054-3 |
op_rights |
none |
op_doi |
https://doi.org/10.1007/s12020-022-03054-3 |
_version_ |
1790598803016908800 |