Zobrazeno 1 - 10
of 46
pro vyhledávání: '"Berta Luzón-Toro"'
Autor:
Berta Luzón-Toro, Leticia Villalba-Benito, Raquel María Fernández, Ana Torroglosa, Guillermo Antiñolo, Salud Borrego
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-7 (2021)
Abstract The relevant role of long non-coding RNAs (lncRNAs) in cancer is currently a matter of increasing interest. Medullary thyroid cancer (MTC) is a rare neuroendocrine tumor (2–5% of all thyroid cancer) derived from the parafollicular C-cells
Externí odkaz:
https://doaj.org/article/1ac9788288b64ae5b60c58be3fede86e
Autor:
Tanja Mederer, Stefanie Schmitteckert, Julia Volz, Cristina Martínez, Ralph Röth, Thomas Thumberger, Volker Eckstein, Jutta Scheuerer, Cornelia Thöni, Felix Lasitschka, Leonie Carstensen, Patrick Günther, Stefan Holland-Cunz, Robert Hofstra, Erwin Brosens, Jill A Rosenfeld, Christian P Schaaf, Duco Schriemer, Isabella Ceccherini, Marta Rusmini, Joseph Tilghman, Berta Luzón-Toro, Ana Torroglosa, Salud Borrego, Clara Sze-Man Tang, Mercè Garcia-Barceló, Paul Tam, Nagarajan Paramasivam, Melanie Bewerunge-Hudler, Carolina De La Torre, Norbert Gretz, Gudrun A Rappold, Philipp Romero, Beate Niesler
Publikováno v:
PLoS Genetics, Vol 16, Iss 11, p e1009106 (2020)
Hirschsprung disease (HSCR, OMIM 142623) involves congenital intestinal obstruction caused by dysfunction of neural crest cells and their progeny during enteric nervous system (ENS) development. HSCR is a multifactorial disorder; pathogenetic variant
Externí odkaz:
https://doaj.org/article/454318530f204fd59d5a4e5139fe2ded
Autor:
Salud Borrego, J. M. Martos-Martínez, Guillermo Antiñolo, Berta Luzón-Toro, M. Rubio-Manzanares-Dorado, Raquel M. Fernández
Publikováno v:
Scientific Reports, Vol 9, Iss 1, Pp 1-12 (2019)
Scientific Reports
Digital.CSIC. Repositorio Institucional del CSIC
instname
Scientific Reports
Digital.CSIC. Repositorio Institucional del CSIC
instname
In recent years, long non-coding RNAs have emerged as a novel class of regulators of cancer biological processes. While they are dysregulated in many cancer types, little is known about their expression and functional profiles. This study has been fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31f65d733f0d2b222788c24b4438d9f8
http://link.springer.com/article/10.1038/s41598-019-50913-7
http://link.springer.com/article/10.1038/s41598-019-50913-7
Autor:
Salud Borrego, Berta Luzón-Toro, Leticia Villalba-Benito, Raquel M. Fernández, Guillermo Antiñolo, Ana Torroglosa
Publikováno v:
Clinical Genetics. 97:114-124
Hirschsprung disease (HSCR) is a rare congenital disorder caused by an incorrect enteric nervous system development due to a failure in migration, proliferation, differentiation and/or survival of enteric neural crest cells. HSCR is a complex genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37fb43135b9ae43931f95db9013d2936
https://doi.org/10.1111/cge.13615
https://doi.org/10.1111/cge.13615
Autor:
Joaquín Dopazo, Leticia Villalba-Benito, Berta Luzón-Toro, Raquel M. Fernández, Salud Borrego, Daniel Lopez-Lopez, María José Moya-Jiménez, Carlos S. Casimiro-Soriguer, Guillermo Antiñolo, Ana Torroglosa
Publikováno v:
Clinical Epigenetics
Digital.CSIC. Repositorio Institucional del CSIC
instname
Digital.CSIC. Repositorio Institucional del CSIC
instname
[Background] Hirschsprung disease (HSCR, OMIM 142623) is a rare congenital disorder that results from a failure to fully colonize the gut by enteric precursor cells (EPCs) derived from the neural crest. Such incomplete gut colonization is due to alte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5943a3b8d560ced4eae11d8d636e9cfd
http://hdl.handle.net/10261/265803
http://hdl.handle.net/10261/265803
Autor:
Salud Borrego, Guillermo Antiñolo, Raquel M. Fernández, Leticia Villalba-Benito, Berta Luzón-Toro, Ana Torroglosa
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-7 (2021)
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-7 (2021)
The relevant role of long non-coding RNAs (lncRNAs) in cancer is currently a matter of increasing interest. Medullary thyroid cancer (MTC) is a rare neuroendocrine tumor (2–5% of all thyroid cancer) derived from the parafollicular C-cells which sec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3acdcf68368796ce06c6cf1751cf01b8
https://hdl.handle.net/10668/16931
https://hdl.handle.net/10668/16931
Autor:
Berta Luzón-Toro, Raquel M Fernández, Ana Torroglosa, Juan Carlos de Agustín, Cristina Méndez-Vidal, Dolores Isabel Segura, Guillermo Antiñolo, Salud Borrego
Publikováno v:
PLoS ONE, Vol 8, Iss 1, p e54800 (2013)
Hirschsprung disease (HSCR, OMIM 142623) is a developmental disorder characterized by the absence of ganglion cells along variable lengths of the distal gastrointestinal tract, which results in tonic contraction of the aganglionic colon segment and f
Externí odkaz:
https://doaj.org/article/3fe93145c2b243b3b895410317265737
Autor:
Raquel María Fernández, Yves Mathieu, Berta Luzón-Toro, Rocío Núñez-Torres, Antonio González-Meneses, Guillermo Antiñolo, Jeanne Amiel, Salud Borrego
Publikováno v:
PLoS ONE, Vol 8, Iss 1, p e54043 (2013)
Hirschsprung disease (HSCR) is a congenital malformation of the hindgut resulting from a disruption of neural crest cell migration during embryonic development. It has a complex genetic aetiology with several genes involved in its pathogenesis. PHOX2
Externí odkaz:
https://doaj.org/article/57fa4cbc69e3434b89f68c1eb04658d8
Autor:
Leticia Villalba-Benito, María José Moya-Jiménez, Raquel M. Fernández, Ana Torroglosa, Salud Borrego, Guillermo Antiñolo, Berta Luzón-Toro
Publikováno v:
International Journal of Molecular Sciences
Digital.CSIC. Repositorio Institucional del CSIC
instname
International Journal of Molecular Sciences, Vol 21, Iss 5534, p 5534 (2020)
Digital.CSIC. Repositorio Institucional del CSIC
instname
International Journal of Molecular Sciences, Vol 21, Iss 5534, p 5534 (2020)
This article belongs to the Special Issue Biomarkers in Rare Diseases.
Hirschsprung disease (HSCR) is a neurocristopathy defined by intestinal aganglionosis due to alterations during the development of the Enteric Nervous System (ENS). A wide sp
Hirschsprung disease (HSCR) is a neurocristopathy defined by intestinal aganglionosis due to alterations during the development of the Enteric Nervous System (ENS). A wide sp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dfa35eb15dfa685225096edc191809c
https://pubmed.ncbi.nlm.nih.gov/32748823
https://pubmed.ncbi.nlm.nih.gov/32748823
Autor:
Melanie Bewerunge-Hudler, Beate Niesler, Thomas Thumberger, Isabella Ceccherini, Marta Rusmini, Joseph Tilghman, Phillipp Romero, Leonie Carstensen, Ana Torroglosa, Ralph Röth, Erwin Brosens, Patrick Günther, Norbert Gretz, Christian P. Schaaf, Berta Luzón-Toro, Robert M.W. Hofstra, Volker Eckstein, Carolina De La Torre, Jutta Scheuerer, Stefanie Schmitteckert, Jill A. Rosenfeld, Julia Volz, Felix Lasitschka, Duco Schriemer, Merce Garcia-Barcelo, Cornelia Thöni, Clara S. Tang, Tanja Mederer, Cristina Martínez, Paul K.H. Tam, Gudrun A. Rappold, Stefan Holland-Cunz, Nagarajan Paramasivam, Salud Borrego
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
PLoS Genetics (online), 16(11):e1009106. Public Library of Science
PLoS Genetics
PLoS genetics, 16(11):1009106, 1-20. PUBLIC LIBRARY SCIENCE
PLoS Genetics, Vol 16, Iss 11, p e1009106 (2020)
instname
PLoS Genetics (online), 16(11):e1009106. Public Library of Science
PLoS Genetics
PLoS genetics, 16(11):1009106, 1-20. PUBLIC LIBRARY SCIENCE
PLoS Genetics, Vol 16, Iss 11, p e1009106 (2020)
[Abstract] Hirschsprung disease (HSCR, OMIM 142623) involves congenital intestinal obstruction caused by dysfunction of neural crest cells and their progeny during enteric nervous system (ENS) development. HSCR is a multifactorial disorder; pathogene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d3601aaa82e03a3adf7ae9ba691f5dd
https://hdl.handle.net/1765/132288
https://hdl.handle.net/1765/132288