Dataset.
Supplementary files of the article Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis [Dataset]
Digital.CSIC. Repositorio Institucional del CSIC
oai:digital.csic.es:10261/329699
Digital.CSIC. Repositorio Institucional del CSIC
- 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 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
DOI: http://hdl.handle.net/10261/329699
Digital.CSIC. Repositorio Institucional del CSIC
oai:digital.csic.es:10261/329699
HANDLE: http://hdl.handle.net/10261/329699
Digital.CSIC. Repositorio Institucional del CSIC
oai:digital.csic.es:10261/329699
Ver en: http://hdl.handle.net/10261/329699
Digital.CSIC. Repositorio Institucional del CSIC
oai:digital.csic.es:10261/329699
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Digital.CSIC. Repositorio Institucional del CSIC
oai:digital.csic.es:10261/329699
Dataset. 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]
Digital.CSIC. Repositorio Institucional del CSIC
- 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 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
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