Výsledky vyhledávání - "Clara Ruíz-Ponte"

Cribriform morular thyroid carcinoma: a case report with pathological, immunohistochemical, and molecular findings suggesting an origin from follicular cells (or their endodermal precursors)

Autor: Ana Echegoyen-Silanes, José Javier Pineda-Arribas, María Sánchez-Ares, Soledad Cameselle-García, Beatriz Sobrino, Clara Ruíz-Ponte, Magalí Piso-Neira, Emma Anda, José Manuel Cameselle-Teijeiro

Publikováno v: Virchows Archiv. 482:615-623

Cribriform morular thyroid carcinoma (CMTC) is a rare malignant thyroid tumor with a peculiar growth pattern secondary to permanent activation of the WNT/β-catenin pathway. CMTC may be associated with familial adenomatous polyposis or sporadic; it s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::87f3989110ab93e76a676e9da52afae8
https://doi.org/10.1007/s00428-023-03495-9

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Akademický článek

Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer

Autor: C. Fernández-Rozadilla, M. Álvarez-Barona, I. Quintana, A. López-Novo, J. Amigo, J. M. Cameselle-Teijeiro, E. Roman, D. Gonzalez, X. Llor, L. Bujanda, X. Bessa, R. Jover, F. Balaguer, A. Castells, S. Castellví-Bel, G. Capellá, A. Carracedo, L. Valle, Clara Ruiz-Ponte

Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)

Abstract Colorectal cancer (CRC) is a complex disease that can be caused by a spectrum of genetic variants ranging from low to high penetrance changes, that interact with the environment to determine which individuals will develop the disease. In thi

Externí odkaz: https://doaj.org/article/1a336233f77f4df2a8dd367041fb7916

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Cribriform-morular variant of papillary thyroid carcinoma: molecular characterization of a case with neuroendocrine differentiation and aggressive behavior

Autor: José, Cameselle-Teijeiro, Lia P, Menasce, Beng K, Yap, Rovel J, Colaco, Patricia, Castro, Ricardo, Celestino, Clara, Ruíz-Ponte, Paula, Soares, Manuel, Sobrinho-Simões

Publikováno v: American journal of clinical pathology. 131(1)

We describe an especially aggressive case of cribriform-morular variant (C-MV) of papillary thyroid carcinoma (PTC) in a 42-year-old man with familial adenomatous polyposis who died with lung and brain metastases 17 months after thyroidectomy. The an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::671efc2f1711362f0692505ab32e586c
https://pubmed.ncbi.nlm.nih.gov/19095577

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Akademický článek

Patterns of genetic differentiation and the footprints of historical migrations in the Iberian Peninsula

Autor: Clare Bycroft, Ceres Fernandez-Rozadilla, Clara Ruiz-Ponte, Inés Quintela, Ángel Carracedo, Peter Donnelly, Simon Myers

Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)

The Iberian Peninsula has a complex history. Here, the authors analyse the genetic structure of the modern Iberian population at fine scale, revealing historical population movements associated with the time of Muslim rule.

Externí odkaz: https://doaj.org/article/2f1caba003dd4a0d9be6caf54cc06a31

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Akademický článek

Role of GALNT12 in the genetic predisposition to attenuated adenomatous polyposis syndrome.

Autor: Víctor Lorca, Daniel Rueda, Lorena Martín-Morales, Carmen Poves, María Jesús Fernández-Aceñero, Clara Ruiz-Ponte, Patricia Llovet, David Marrupe, Vanesa García-Barberán, Beatriz García-Paredes, Pedro Pérez-Segura, Miguel de la Hoya, Eduardo Díaz-Rubio, Trinidad Caldés, Pilar Garre

Publikováno v: PLoS ONE, Vol 12, Iss 11, p e0187312 (2017)

The involvement of GALNT12 in colorectal carcinogenesis has been demonstrated but it is not clear to what extent it is implicated in familial CRC susceptibility. Partially inactivating variant, NM_024642.4:c.907G>A, p.(D303N), has been previously det

Externí odkaz: https://doaj.org/article/fd09141029544588ac11fc1e88cef1b0

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Akademický článek

A colorectal cancer susceptibility new variant at 4q26 in the Spanish population identified by genome-wide association analysis.

Publikováno v: PLoS ONE, Vol 9, Iss 6, p e101178 (2014)

BackgroundNon-hereditary colorectal cancer (CRC) is a complex disorder resulting from the combination of genetic and non-genetic factors. Genome-wide association studies (GWAS) are useful for identifying such genetic susceptibility factors. However,

Externí odkaz: https://doaj.org/article/5263b15232e048de89f66f787f7df1c3

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Akademický článek

Association between CASP8 -652 6N del polymorphism (rs3834129) and colorectal cancer risk: results from a multi-centric study.

Publikováno v: PLoS ONE, Vol 9, Iss 1, p e85538 (2014)

The common -652 6N del variant in the CASP8 promoter (rs3834129) has been described as a putative low-penetrance risk factor for different cancer types. In particular, some studies suggested that the deleted allele (del) was inversely associated with

Externí odkaz: https://doaj.org/article/31af3978956a4ba7a787743173a3331b

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Akademický článek

Multiple sporadic colorectal cancers display a unique methylation phenotype.

Autor: Victoria Gonzalo, Juan Jose Lozano, Virginia Alonso-Espinaco, Leticia Moreira, Jenifer Muñoz, Maria Pellisé, Sergi Castellví-Bel, Xavier Bessa, Montserrat Andreu, Rosa M Xicola, Xavier Llor, Clara Ruiz-Ponte, Angel Carracedo, Rodrigo Jover, Antoni Castells, Francesc Balaguer, Gastrointestinal Oncology Group of the Spanish Gastroenterological Association

Publikováno v: PLoS ONE, Vol 9, Iss 3, p e91033 (2014)

Epigenetics are thought to play a major role in the carcinogenesis of multiple sporadic colorectal cancers (CRC). Previous studies have suggested concordant DNA hypermethylation between tumor pairs. However, only a few methylation markers have been a

Externí odkaz: https://doaj.org/article/f0a32a8c0b34487d9f0f0fd5034ba26d

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