Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Darya Gorbenko-del Blanco"'
Autor:
Miriam Aza-Carmona, Veronica Barca-Tierno, Alfonso Hisado-Oliva, Alberta Belinchón, Darya Gorbenko-del Blanco, Jose Ignacio Rodriguez, Sara Benito-Sanz, Angel Campos-Barros, Karen E Heath
Publikováno v:
PLoS ONE, Vol 9, Iss 1, p e83104 (2014)
SHOX and SHOX2 transcription factors are highly homologous, with even identical homeodomains. Genetic alterations in SHOX result in two skeletal dysplasias; Léri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD), while no human gene
Externí odkaz:
https://doaj.org/article/89a138f2f118481c9cfa442111c15dd6
Autor:
Arturo Ibáñez-Fonseca, Silvia Santiago Maniega, Darya Gorbenko del Blanco, Benedicta Catalán Bernardos, Aurelio Vega Castrillo, Ángel José Álvarez Barcia, Matilde Alonso, Héctor J. Aguado, José Carlos Rodríguez-Cabello
Publikováno v:
Frontiers in Bioengineering and Biotechnology, Vol 8 (2020)
Large skeletal muscle injuries, such as a volumetric muscle loss (VML), often result in an incomplete regeneration due to the formation of a non-contractile fibrotic scar tissue. This is, in part, due to the outbreak of an inflammatory response, whic
Externí odkaz:
https://doaj.org/article/b2fddb8c76f04195a74f55c113d001fb
Autor:
Aleksandra Mas‐Stachurska, Anna‐Maria Siegert, Monsterrat Batlle, Darya Gorbenko del Blanco, Thayna Meirelles, Cira Rubies, Fabio Bonorino, Carla Serra‐Peinado, Bart Bijnens, Julio Baudin, Marta Sitges, Lluís Mont, Eduard Guasch, Gustavo Egea
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 6, Iss 9 (2017)
BackgroundMarfan syndrome (MF) leads to aortic root dilatation and a predisposition to aortic dissection, mitral valve prolapse, and primary and secondary cardiomyopathy. Overall, regular physical exercise is recommended for a healthy lifestyle, but
Externí odkaz:
https://doaj.org/article/8f8f08a782a14322b78942e702882ae2
Autor:
Aurelio Vega Castrillo, José Carlos Rodríguez-Cabello, Angel José Àlvarez Barcia, Héctor J. Aguado, Darya Gorbenko Del Blanco, Silvia Santiago Maniega, Arturo Ibáñez-Fonseca, Matilde Alonso, Benedicta Catalán Bernardos
Publikováno v:
Frontiers in Bioengineering and Biotechnology, Vol 8 (2020)
Frontiers in Bioengineering and Biotechnology
Frontiers in Bioengineering and Biotechnology
Large skeletal muscle injuries, such as a volumetric muscle loss (VML), often result in an incomplete regeneration due to the formation of a non-contractile fibrotic scar tissue. This is, in part, due to the outbreak of an inflammatory response, whic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::589bb8ba5184c2ae11e99355c9f99a62
https://doi.org/10.3389/fbioe.2020.00413
https://doi.org/10.3389/fbioe.2020.00413
Autor:
Simon Heath, Anna-Maria Siegert, Jordi Alberch, Darya Gorbenko del Blanco, María Galán, Gerardo Garcia Diaz-Barriga, Gustavo Egea, Anna Esteve-Codina, Miquel Navas-Madroñal
Publikováno v:
Biochimica et biophysica acta. Molecular basis of disease. 1865(1)
Marfan syndrome (MFS) is caused by mutations in the protein fibrillin-1 (FBN1) which affects the integrity of connective tissue elastic fibres. The most severe clinical outcome is the formation of ascending aortic aneurysms. FBN1 mutations are extrem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::072bb1f6dabd5b6e76de697cd8435949
https://pubmed.ncbi.nlm.nih.gov/30385411
https://pubmed.ncbi.nlm.nih.gov/30385411
Autor:
Elena Vallespín, Ana González-Rivas Fernández, Adela Escudero, Esther Diaz-Rodriguez, Vilborg Matre, Montserrat Garcia-Lavandeira, Clara V. Alvarez, Manuel Nistal, Patricia M. Hinkle, Maria P. De Miguel, Pablo Lapunzina, Yolanda B. de Rijke, José Moreno, José Cameselle-Teijeiro, Darya Gorbenko del Blanco, Anita C. S. Hokken-Koelega, Angela R. Garcia-Rendueles, Julián Nevado, Marta Cerezo García, Raquel Barrio
Publikováno v:
Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela
instname
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Scientific Reports
Scientific Reports, 7. Nature Publishing Group
instname
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Scientific Reports
Scientific Reports, 7. Nature Publishing Group
IGSF1 (Immunoglobulin Superfamily 1) gene defects cause central hypothyroidism and macroorchidism. However, the pathogenic mechanisms of the disease remain unclear. Based on a patient with a full deletion of IGSF1 clinically followed from neonate to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b16c19fb1e502a0d9ed25df18d2008a
Autor:
Bart Bijnens, Julio Baudin, Eduard Guasch, Thayna Meirelles, Lluís Mont, Anna-Maria Siegert, Darya Gorbenko del Blanco, Monsterrat Batlle, Carla Serra-Peinado, Fabio Bonorino, Marta Sitges, Gustavo Egea, Aleksandra Mas-Stachurska, Cira Rubies
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instname
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instname
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Marfan syndrome (MF) leads to aortic root dilatation and a predisposition to aortic dissection, mitral valve prolapse, and primary and secondary cardiomyopathy. Overall, regular physical exercise is recommended for a healthy lifestyle, but
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f341075727ea08ff2b87da8b5162bbb4
http://hdl.handle.net/2445/116287
http://hdl.handle.net/2445/116287
Autor:
Daniel Navajas, Renata Kelly da Palma, Ramon Farré, Luis Vicente Franco de Oliveira, Josep M. Montserrat, Darya Gorbenko del Blanco, Isaac Almendros, Gustavo Egea
Publikováno v:
Respiratory Physiology & Neurobiology. 207:58-60
Marfan syndrome (MFS) is a genetic disorder caused by mutations in the FBN1 gene that codifies for fibrilin-1. MFS affects elastic fiber formation and the resulting connective tissue shows abnormal tissue laxity and organization. Although an increase
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99978467fb42f7253230eb15a8af8f92
https://doi.org/10.1016/j.resp.2014.12.013
https://doi.org/10.1016/j.resp.2014.12.013
Publikováno v:
Clinical Endocrinology, 78(3), 415-423. Wiley-Blackwell Publishing Ltd
SummaryObjective Combined pituitary hormone deficiency (CPHD) is characterized by deficiencies of two or more anterior pituitary hormones. Its genetic cause is unknown in the majority of cases. The Hedgehog (Hh) signalling pathway has been implicated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f1782b3a81f7a29c5ee94aa17942595
https://doi.org/10.1111/cen.12000
https://doi.org/10.1111/cen.12000
Publikováno v:
Clinical Endocrinology. 76:706-712
Summary Objectives Growth hormone insensitivity syndrome (GHIS) is characterized by extreme short stature and resistance to the actions of growth hormone (GH). The heterogeneity ranges from the most severe form, known as Laron syndrome, to less sever
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::10b80a942249db9b4d9ae862c765b3ad
https://doi.org/10.1111/j.1365-2265.2011.04304.x
https://doi.org/10.1111/j.1365-2265.2011.04304.x