Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Christian M. Moya"'
Autor:
Mercedes Robledo, Bruce A. Ponder, Joaquín Dopazo, Pilar Santisteban, Javier Benítez, Anna González-Neira, Miguel Urioste, Ángel Carracedo, José Ángel Díaz-Pérez, Cristina Álvarez-Escolá, Guiomar Pérez de Nanclares, Salud Borrego, Iñigo Landa, Fátima Mercadillo, Alberto Cascón, Rocío Letón, Arancha Cebrián, Christian M. Moya, Roger L. Milne, Cristina Montero-Conde, Sergio Ruiz-Llorente
Supplementary Information and Tables 1-5 from Association Study of 69 Genes in the Ret Pathway Identifies Low-penetrance Loci in Sporadic Medullary Thyroid Carcinoma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f7d14d2263705209952e3f83bef158e
https://doi.org/10.1158/0008-5472.22370996.v1
https://doi.org/10.1158/0008-5472.22370996.v1
Autor:
Lucía Garzón, Carmen Luna, Christian M. Moya, Elena Gallego, José Moreno, Rogelio Simón, Pilar Santisteban, Miguel A. Zaballos, Michael B. Yaffe
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
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[Context]: Identification of a frameshift heterozygous mutation in the transcription factor NKX2-1 in a patient with brain-lung-thyroid syndrome (BLTS) and life-threatening lung emphysema.
[Objective]: To study the genetic defect that causes thi
[Objective]: To study the genetic defect that causes thi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea345f5f867dd64c64bf27d25d321a0d
https://doi.org/10.1210/jc.2017-01241
https://doi.org/10.1210/jc.2017-01241
Autor:
Peter Arvan, Karen G. Scheps, Héctor M. Targovnik, Cintia E. Citterio, Osvaldo Rey, Sofia Siffo, Christian M. Moya, Maricel F. Molina, Carina M. Rivolta, Mauricio Gomes Pio
Publikováno v:
Molecular and Cellular Endocrinology. 505:110719
Thyroglobulin (TG), a large glycosylated protein secreted by thyrocytes into the thyroid follicular lumen, plays an essential role in thyroid hormone biosynthesis. Rattus norvegicus TG (rTG) is encoded by a large single copy gene, 186-kb long, locate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6beb7c449d3b49ad8cddb29df2961625
https://doi.org/10.1016/j.mce.2020.110719
https://doi.org/10.1016/j.mce.2020.110719
Autor:
Pilar Santisteban, Marina Romaní-Pérez, Lucas C. González-Matías, Verónica Outeiriño-Iglesias, Eva Vigo, Federico Mallo, Christian M. Moya
Publikováno v:
Endocrinology. 156:3559-3569
Diabetes alters microvascular function in the vascular beds of organs, including the lungs. Cardiovascular complications of pulmonary vascular affectation may be a consequence of the overactivation of the vasoconstrictive and proliferative components
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adf3f1c44006fe716337720f1aae8767
https://doi.org/10.1210/en.2014-1685
https://doi.org/10.1210/en.2014-1685
Autor:
Cristina Álvarez-Escolá, Mercedes Robledo, Pilar Santisteban, Roger L. Milne, Javier Benitez, Fátima Mercadillo, Miguel Urioste, Guiomar Perez de Nanclares, Joaquín Dopazo, Cristina Montero-Conde, Iñigo Landa, Alberto Cascón, Salud Borrego, Christian M. Moya, Bruce A.J. Ponder, Angel Carracedo, Arancha Cebrián, Anna González-Neira, Rocío Letón, Sergio Ruiz-Llorente, José Ángel Díaz-Pérez
Publikováno v:
Cancer Research. 67:9561-9567
To date, few association studies have been done to better understand the genetic basis for the development of sporadic medullary thyroid carcinoma (sMTC). To identify additional low-penetrance genes, we have done a two-stage case-control study in two
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b97c6076dc6bbf5bddb6f928bf6359a
https://doi.org/10.1158/0008-5472.can-07-1638
https://doi.org/10.1158/0008-5472.can-07-1638
Autor:
María Bargadá, P. Martul, Guiomar Perez de Nanclares, Christian M. Moya, Pilar Santisteban, Enric Vicens-Calvet, Raquel Coya, J. Ramón Bilbao, Luis Castaño, Neus Potau, Antonio Carrascosa
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
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10 pages, 8 figures.-- et al.
[Context]: We studied two sisters with congenital hypothyroidism and choreoathetosis but not respiratory distress. [Objective]: The aim of this study was to establish the genetic defect that causes this phenotype an
[Context]: We studied two sisters with congenital hypothyroidism and choreoathetosis but not respiratory distress. [Objective]: The aim of this study was to establish the genetic defect that causes this phenotype an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13d7e1f385c7dab613e0076bffe54037
https://doi.org/10.1210/jc.2005-1497
https://doi.org/10.1210/jc.2005-1497
Autor:
Carina M. Rivolta, Christian M. Moya, Sebastián A. Esperante, Viviana J. Gutnisky, Viviana Varela, Héctor M. Targovnik
Publikováno v:
Medicina (Buenos Aires), Vol 65, Iss 3, Pp 257-267 (2005)
Las enfermedades tiroideas constituyen una heterogénea colección de anormalidades asociadas a mutaciones en los genes responsables en el desarrollo de la tiroides: factor de transcripción tiroideo 1 (TTF-1), factor de transcripción tiroideo 2 (TT
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::da84481627c4a7b85c7d5bf5fdaaba64
http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S0025-76802005000300015
http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S0025-76802005000300015
Publikováno v:
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
We identified a novel large insertion/deletion (Indel) polymorphism of 1464 bp localized in intron 18 of the human thyroglobulin gene. Data from sequence showed a high A+T content (62%), two 17-bp long motif repeats, and three different types of 10-b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05633288b25857a1f9de90d297d5228d
https://doi.org/10.1089/105072503321669785
https://doi.org/10.1089/105072503321669785
Autor:
Carina M, Rivolta, Christian M, Moya, Sebastian A, Esperante, Viviana J, Gutnisky, Viviana, Varela, Hector M, Targovnik
Publikováno v:
Medicina. 65(3)
Thyroid diseases constitute a heterogeneous collection of abnormalities associated with mutations in genes responsible for the development of thyroid: thyroid transcription factor-1 (TTF-1), thyroid transcriptions factor-2 (TTF-2) and PAX8, or in one
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::29cbd8a094414e1f0e0eb0acb7d29375
https://pubmed.ncbi.nlm.nih.gov/16042141
https://pubmed.ncbi.nlm.nih.gov/16042141
Autor:
Héctor M. Targovnik, Viviana Varela, Viviana J. Gutnisky, Carina M. Rivolta, Rogelio González-Sarmiento, José M. Miralles-García, Christian M. Moya
Publikováno v:
The Journal of clinical endocrinology and metabolism. 90(6)
Identification of thyroglobulin (TG) gene mutations may provide insight into the structure-function relationship. In this study, we have performed molecular studies in a patient with congenital goiter, hypothyroidism, and impairment of TG synthesis.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39cbf1503f11cfeae1f803a6bc464c15
https://pubmed.ncbi.nlm.nih.gov/15769978
https://pubmed.ncbi.nlm.nih.gov/15769978