Zobrazeno 1 - 10
of 95
pro vyhledávání: '"Luisa-María Botella"'
Autor:
Laura Lorente-Herraiz, Angel M. Cuesta, Jaime Granado, Lucía Recio-Poveda, Luisa-María Botella, Virginia Albiñana
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 7, p 3952 (2024)
Cerebral cavernous malformation (CCM) or familial cavernomatosis is a rare, autosomal dominant, inherited disease characterized by the presence of vascular malformations consisting of blood vessels with an abnormal structure in the form of clusters.
Externí odkaz:
https://doaj.org/article/fb9ef1dd16b245ee9c5d1227bef580e7
Autor:
Isabel de Rojas-P, Virginia Albiñana, Lucía Recio-Poveda, Amanda Rodriguez-Rufián, Ángel M. Cuesta, Luisa-María Botella
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-6 (2020)
Abstract Von Hippel-Lindau syndrome (VHL) is a rare disease of dominant inheritance that increases susceptibility to tumor development, with a complete penetrance at the age of 60. In this report, we present the unprecedented case of a VHL carrier wh
Externí odkaz:
https://doaj.org/article/383796de483f4052990caf2d77f6f9c3
Autor:
Angel M. Cuesta, Eunate Gallardo-Vara, Juan Casado-Vela, Lucía Recio-Poveda, Luisa-María Botella, Virginia Albiñana
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 8, p 4217 (2022)
Rare Diseases (RD) are defined by their prevalence in less than 5 in 10,000 of the general population. Considered individually, each RD may seem insignificant, but together they add up to more than 7000 different diseases. Research in RD is not attra
Externí odkaz:
https://doaj.org/article/37bf8baa0f37456ab8221b3d1bf57a19
Autor:
Virginia Albiñana, Guillermo Giménez-Gallego, Angela García-Mato, Patricia Palacios, Lucia Recio-Poveda, Angel-M Cuesta, José-Luis Patier, Luisa-María Botella
Publikováno v:
TH Open, Vol 03, Iss 03, Pp e230-e243 (2019)
Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia characterized by recurrent and spontaneous epistaxis (nose bleeds), telangiectases on skin and mucosa, internal organ arteriovenous malformations, and dominant autosomal inheritance.
Externí odkaz:
https://doaj.org/article/02fb504621504e31997fc759d8991017
Autor:
Tania Aguado, Marta García, Adela García, Gemma Ferrer-Mayorga, Lucía Martínez-Santamaría, Marcela del Río, Luisa-María Botella, José-María Sánchez-Puelles
Publikováno v:
Cells, Vol 9, Iss 9, p 2108 (2020)
Recessive dystrophic epidermolysis bullosa (RDEB) is a severe skin disease caused by mutation of the COL7A1 gene. RDEB is associated with high levels of TGF-β1, which is likely to be involved in the fibrosis that develops in this disease. Endoglin (
Externí odkaz:
https://doaj.org/article/a7bae1e81a544c68a49d8af94b5b9af8
Autor:
Miguel-Angel Díaz-Castellanos, Karina Villar Gómez de las Heras, Tamara Díaz-Redondo, Encarnación González-Flores, Virginia Albiñana, Luisa-María Botella
Publikováno v:
F1000Research, Vol 6 (2017)
This case report presents the clinical evolution and management of a patient with a hereditary paraganglioma syndrome. This disease is characterized by rare tumors of neural crest origin that are symmetrically distributed along the paravertebral axis
Externí odkaz:
https://doaj.org/article/ceafde87aba843a88fce00fe9c6c2031
Autor:
Virginia Albiñana, Eunate Gallardo-Vara, Juan Casado-Vela, Lucía Recio-Poveda, Luisa María Botella, Angel M Cuesta
Publikováno v:
Journal of clinical medicine. 11(15)
18 p.-4 fig.-1 tab.
Research on cancer therapies focuses on processes such as angiogenesis, cell signaling, stemness, metastasis, and drug resistance and inflammation, all of which are influenced by the cellular and molecular microenvironment of
Research on cancer therapies focuses on processes such as angiogenesis, cell signaling, stemness, metastasis, and drug resistance and inflammation, all of which are influenced by the cellular and molecular microenvironment of
Autor:
Suriel, Errasti Díaz, Mercedes, Peñalva, Lucía, Recio-Poveda, Susana, Vilches, Juan, Casado-Vela, Julián, Pérez Pérez, Luisa María, Botella, Virginia, Albiñana, Angel M, Cuesta
Publikováno v:
Journal of clinical medicine. 11(11)
Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disorder of vascular development. Common manifestations include epistaxis, telangiectasias and arteriovenous malformations in multiple organs. Different deletions or nonsense mutations have been d
Autor:
Suriel Errasti Díaz, Mercedes Peñalva, Lucía Recio-Poveda, Susana Vilches, Juan Casado-Vela, Julián Pérez Pérez, Luisa María Botella, Virginia Albiñana, Angel M. Cuesta
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
Journal of Clinical Medicine; Volume 11; Issue 11; Pages: 3053
E-Prints Complutense. Archivo Institucional de la UCM
instname
Journal of Clinical Medicine; Volume 11; Issue 11; Pages: 3053
E-Prints Complutense. Archivo Institucional de la UCM
Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disorder of vascular development. Common manifestations include epistaxis, telangiectasias and arteriovenous malformations in multiple organs. Different deletions or nonsense mutations have been d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8be87225030ed4e1f37b78766b6618ee
http://hdl.handle.net/10261/271607
http://hdl.handle.net/10261/271607
Autor:
Virginia Albiñana, Lucía Recio-Poveda, Pilar González-Peramato, Luis Martinez-Piñeiro, Luisa María Botella, Angel M. Cuesta
Publikováno v:
International Journal of Molecular Sciences; Volume 23; Issue 3; Pages: 1325
International Journal of Molecular Sciences, Vol 23, Iss 1325, p 1325 (2022)
International Journal of Molecular Sciences, Vol 23, Iss 1325, p 1325 (2022)
15 p.-5 fig.-2 tab.
Von Hippel-Lindau (VHL) syndrome is a rare inherited cancer disease where the lack of VHL protein triggers the development of multisystemic tumors such us retinal hemangioblastomas (HBs), CNS-HBs, and clear cell renal cell ca
Von Hippel-Lindau (VHL) syndrome is a rare inherited cancer disease where the lack of VHL protein triggers the development of multisystemic tumors such us retinal hemangioblastomas (HBs), CNS-HBs, and clear cell renal cell ca