Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Sheila Cástro-Sánchez"'
Publikováno v:
Frontiers in Molecular Biosciences, Vol 4 (2017)
Bardet-Biedl syndrome (BBS) is a rare genetic disorder that belongs to the group of ciliopathies, defined as diseases caused by defects in cilia structure and/or function. The six diagnostic features considered for this syndrome include retinal dystr
Externí odkaz:
https://doaj.org/article/57eafbeb7fb041cea4df77f66577e3f5
Autor:
Sheila Castro-Sánchez, María Álvarez-Satta, Mohamed A Tohamy, Sergi Beltran, Sophia Derdak, Diana Valverde
Publikováno v:
PLoS ONE, Vol 12, Iss 8, p e0183081 (2017)
Ciliopathies are a group of rare disorders characterized by a high genetic and phenotypic variability, which complicates their molecular diagnosis. Hence the need to use the latest powerful approaches to faster identify the genetic defect in these pa
Externí odkaz:
https://doaj.org/article/be52a19db908499ba96242824a36929a
Autor:
Guillermo Pousada, Vincenzo Lupo, Sheila Cástro-Sánchez, María Álvarez-Satta, Ana Sánchez-Monteagudo, Adolfo Baloira, Carmen Espinós, Diana Valverde
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-19 (2017)
Abstract Pulmonary arterial hypertension is a progressive disease that causes the obstruction of precapillary pulmonary arteries and a sustained increase in pulmonary vascular resistance. The aim was to analyze functionally the variants found in the
Externí odkaz:
https://doaj.org/article/6b58ee7f72ba4e7fbad01dfe022de748
Autor:
María Álvarez-Satta, Mauro Lago-Docampo, Brais Bea-Mascato, Carlos Solarat, Sheila Castro-Sánchez, Søren T. Christensen, Diana Valverde
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
In this study, we aimed to evaluate the role of ALMS1 in the morphology of primary cilia and regulation of cellular signaling using a knockdown model of the hTERT-RPE1 cell line. ALMS1 depletion resulted in the formation of longer cilia, which often
Externí odkaz:
https://doaj.org/article/2d1838e82c63439eb0ccef885435e330