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...

Full description

Bibliographic Details
Main Authors: 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.
Format: Dataset
Language:English
Published: Springer Nature 2022
Subjects:
Online Access:http://hdl.handle.net/10261/329699
https://doi.org/10.1007/s12020-022-03054-3
id ftcsic:oai:digital.csic.es:10261/329699
record_format openpolar
spelling 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)
institution Open Polar
collection Digital.CSIC (Spanish National Research Council)
op_collection_id 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

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