Zobrazeno 1 - 10
of 296
pro vyhledávání: '"I. Lorda"'
Autor:
A. Arteche-López, A. Ávila-Fernández, R. Riveiro Álvarez, B. Almoguera, A. Bustamante Aragonés, I. Martin-Merida, M. A. López Martínez, A. Giménez Pardo, C. Vélez-Monsalve, J. Gallego Merlo, I. García Vara, F. Blanco-Kelly, S. Tahsin Swafiri, I. Lorda Sánchez, M. J. Trujillo Tiebas, C. Ayuso
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-9 (2022)
Abstract Nowadays, exome sequencing is a robust and cost-efficient genetic diagnostic tool already implemented in many clinical laboratories. Despite it has undoubtedly improved our diagnostic capacity and has allowed the discovery of many new Mendel
Externí odkaz:
https://doaj.org/article/dc31d4d3897d477b98adf615cd93c2b5
Autor:
A. Arteche-López, A. Ávila-Fernández, R. Romero, R. Riveiro-Álvarez, M. A. López-Martínez, A. Giménez-Pardo, C. Vélez-Monsalve, J. Gallego-Merlo, I. García-Vara, Berta Almoguera, A. Bustamante-Aragonés, F. Blanco-Kelly, S. Tahsin-Swafiri, E. Rodríguez-Pinilla, P. Minguez, I. Lorda, M. J. Trujillo-Tiebas, C. Ayuso
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)
Abstract Despite the improved accuracy of next-generation sequencing (NGS), it is widely accepted that variants need to be validated using Sanger sequencing before reporting. Validation of all NGS variants considerably increases the turnaround time a
Externí odkaz:
https://doaj.org/article/3232ae8192614cb485634017846e2717
Autor:
Cristina Duarte-Olivenza, Goretti Moran, Juan M. Hurle, Carlos I. Lorda-Diez, Juan A. Montero
Publikováno v:
Cell Death and Disease, Vol 14, Iss 12, Pp 1-10 (2023)
Abstract Micromass cultures of embryonic limb skeletal progenitors replicate the tissue remodelling processes observed during digit morphogenesis. Here, we have employed micromass cultures in an in vitro assay to study the nature of cell degeneration
Externí odkaz:
https://doaj.org/article/c01873eabc68444b8ef8c264e1fcddbe
Autor:
I. Perea-Romero, L. Fernández-Caballero, I.F. Iancu, C. Rodilla, I. Martín-Mérida, A. Ávila-Fernández, B. Almoguera, R. Riveiro-Álvarez, M.J. Trujillo-Tiebas, I. Lorda-Sánchez, S. Tahsin-Swafiri, F. López-Grondona, A.I. Sánchez, F. Blanco-Kelly, M. Pozo-Valero, P. Mínguez, J.M. Millán, P. Martín-Gutiérrez, B. Jiménez-Rolando, E. Carreño, B. García-Sandoval, M. Cortón, C. Ayuso
Publikováno v:
ANALES RANM. 139:274-284
Inherited Retinal Dystrophies (IRDs) are a group of rare diseases with a prevalence of 1:3000-4000 people. They are genetic, primarily affecting retinal photoreceptors and epithelial pigmentary cells, and lead to neurodegeneration and finally apoptos
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 8 (2020)
Digits develop in the distal part of the embryonic limb primordium as radial prechondrogenic condensations separated by undifferentiated mesoderm. In a short time interval the interdigital mesoderm undergoes massive degeneration to determine the form
Externí odkaz:
https://doaj.org/article/8014011aedc3431d91793f00b78a7509
Publikováno v:
Developmental Dynamics
Dev Dyn . 2021 Sep;250(9):1236-1247
UCrea Repositorio Abierto de la Universidad de Cantabria
instname
Dev Dyn . 2021 Sep;250(9):1236-1247
UCrea Repositorio Abierto de la Universidad de Cantabria
instname
Our aim is to critically review current knowledge of the function and regulation of cell death in the developing limb. We provide a detailed, but short, overview of the areas of cell death observed in the developing limb, establishing their function
Publikováno v:
Cells, 2022, 12(1), 175
Cells; Volume 12; Issue 1; Pages: 175
Cells; Volume 12; Issue 1; Pages: 175
Considering the importance of programmed cell death in the formation of the skeleton during embryonic development, the aim of the present study was to analyze whether regulated cell degeneration also accompanies the differentiation of embryonic limb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::499403501054858b981d9810bde9e6ee
https://hdl.handle.net/10902/27782
https://hdl.handle.net/10902/27782
Publikováno v:
Dev Dyn . 2022 Jan;251(1):125-136
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)
Transforming growth factor beta (TGFβ) constitutes a large and evolutionarily conserved superfamily of secreted factors that play essential roles in embryonic development, cancer, tissue regeneration and human degenerative pathology. Studies of this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c51ce251a5e25160fe02e0aba309cdf
http://hdl.handle.net/10902/23775
http://hdl.handle.net/10902/23775
Publikováno v:
Frontiers in Cell and Developmental Biology
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
At early developmental stages, limb bud mesodermal undifferentiated cells are morphologically indistinguishable. Although the identification of several mesodermal skeletal progenitor cell populations has been recognized, in advanced stages of limb de
Autor:
Beatriz Olivia Camarena Gómez, Angel Carracedo, Beatriz Morte, María Palomares-Bralo, Patricia Arias, Carmen Ayuso, Marta Pacio-Míguez, Fernando Santos-Simarro, Jair Tenorio-Castaño, Alma Kuechler, Pedro Arias, Feliciano J. Ramos, Eduardo F Tizzano, Sergio Ramos, Fermina López-Grondona, Luis A. Pérez-Jurado, María Pilar Méndez Perez, Julián Nevado, Berta Almoguera, Francisco Barros, Enrique Galán-Gómez, Sixto García-Miñaur, Alba Alcochea, Irene Valenzuela, Victor Martinez-Glez, Frank J. Kaiser, Ivon Cuscó, I. Lorda-Sánchez, Juan Pié, Pablo Lapunzina, Juan Carrión
Publikováno v:
Genes, Vol 12, Iss 738, p 738 (2021)
Genes
Volume 12
Issue 5
Biblos-e Archivo. Repositorio Institucional de la UAM
Universitat Autònoma de Barcelona
Dipòsit Digital de Documents de la UAB
Scientia
Genes
Volume 12
Issue 5
Biblos-e Archivo. Repositorio Institucional de la UAM
Universitat Autònoma de Barcelona
Dipòsit Digital de Documents de la UAB
Scientia
Schuurs–Hoeijmakers syndrome (SHMS) or PACS1 Neurodevelopmental disorder is a rare disorder characterized by intellectual disability, abnormal craniofacial features and congenital malformations. SHMS is an autosomal dominant hereditary disease caus