Zobrazeno 1 - 10
of 53
pro vyhledávání: '"María Apellániz-Ruiz"'
Autor:
Alberto Maillo, Estefania Huergo, María Apellániz-Ruiz, Edurne Urrutia-Lafuente, María Miranda, Josefa Salgado, Sara Pasalodos-Sanchez, Luna Delgado-Mora, Óscar Teijido, Ibai Goicoechea, Rosario Carmona, Javier Perez-Florido, Virginia Aquino, Daniel Lopez-Lopez, María Peña-Chilet, Sergi Beltran, Joaquín Dopazo, Iñigo Lasa, Juan José Beloqui, NAGEN-Scheme, Ángel Alonso, David Gomez-Cabrero
Publikováno v:
Genes, Vol 15, Iss 5, p 585 (2024)
Large-scale genomic studies have significantly increased our knowledge of genetic variability across populations. Regional genetic profiling is essential for distinguishing common benign variants from disease-causing ones. To this end, we conducted a
Externí odkaz:
https://doaj.org/article/dbc29b8998954f04a9df788239db6495
Autor:
Tomas Pascual, María Apellániz-Ruiz, Cristina Pernaut, Cecilia Cueto-Felgueroso, Pablo Villalba, Carlos Álvarez, Luis Manso, Lucia Inglada-Pérez, Mercedes Robledo, Cristina Rodríguez-Antona, Eva Ciruelos
Publikováno v:
PLoS ONE, Vol 12, Iss 7, p e0180192 (2017)
Metastatic breast cancer (MBC) progressing after endocrine therapy frequently activates PI3K/AKT/mTOR pathway. The BOLERO-2 trial showed that everolimus-exemestane achieves increased progression free survival (PFS) compared with exemestane. However,
Externí odkaz:
https://doaj.org/article/05a0407f1cc6484d88afca54b739dbe3
Autor:
Cristina Rodríguez-Antona, Magnus Ingelman-Sundberg, Mercedes Robledo, Inger Johansson, Alberto Cascón, Luis J. Leandro-García, Eva Guerra, Beatriz Castelo, Jesús García-Donás, María Sereno, Laura García-Estévez, Isabel Calvo, Gerardo Gutiérrez-Gutiérrez, Lara Sánchez-Barroso, Mi-Young Lee, María Apellániz-Ruiz
Supplementary Figure 1. CYP3A4.25 protein stability assessment
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66f6bfd19138fa063d71d1270272477a
https://doi.org/10.1158/1078-0432.22461834.v1
https://doi.org/10.1158/1078-0432.22461834.v1
Autor:
Cristina Rodríguez-Antona, Mercedes Robledo, Alberto Cascón, Fátima Al-Shahrour, Henrik Green, Elisabeth Åvall-Lundqvist, Veronika Mancikova, Cristina Montero-Conde, María Currás-Freixes, María Merino, María Sereno, Nuria Romero-Laorden, Jesús García-Donás, Andrés Redondo, Beatriz Castelo, Isabel Calvo, Gerardo Gutiérrez-Gutiérrez, Lara Sánchez-Barroso, Lucía Inglada-Pérez, Héctor Tejero, María Apellániz-Ruiz
Purpose: Neuropathy is the dose-limiting toxicity of paclitaxel and a major cause for decreased quality of life. Genetic factors have been shown to contribute to paclitaxel neuropathy susceptibility; however, the major causes for interindividual diff
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31ae265e1b3bc786e81fcb05b9df013a
https://doi.org/10.1158/1078-0432.c.6526400
https://doi.org/10.1158/1078-0432.c.6526400
Autor:
Cristina Rodríguez-Antona, Mercedes Robledo, Alberto Cascón, Fátima Al-Shahrour, Henrik Green, Elisabeth Åvall-Lundqvist, Veronika Mancikova, Cristina Montero-Conde, María Currás-Freixes, María Merino, María Sereno, Nuria Romero-Laorden, Jesús García-Donás, Andrés Redondo, Beatriz Castelo, Isabel Calvo, Gerardo Gutiérrez-Gutiérrez, Lara Sánchez-Barroso, Lucía Inglada-Pérez, Héctor Tejero, María Apellániz-Ruiz
Supplementary Table 1. Non synonymous coding and splicing site variants in the discovery series targeted sequencing. Supplementary Table 2. Association of common non-synonymous coding variants with paclitaxel-induced neuropathy.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c40f8b7183fa3abc2481f0a3819ec30b
https://doi.org/10.1158/1078-0432.22466693
https://doi.org/10.1158/1078-0432.22466693
Autor:
Cristina Rodríguez-Antona, Magnus Ingelman-Sundberg, Mercedes Robledo, Inger Johansson, Alberto Cascón, Luis J. Leandro-García, Eva Guerra, Beatriz Castelo, Jesús García-Donás, María Sereno, Laura García-Estévez, Isabel Calvo, Gerardo Gutiérrez-Gutiérrez, Lara Sánchez-Barroso, Mi-Young Lee, María Apellániz-Ruiz
Supplementary Figure 3. CYP3A4*22 association with paclitaxel-induced neuropathy and paclitaxel dose modifications.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9860cc956eb524ea464de7095e8a66a1
https://doi.org/10.1158/1078-0432.22461828.v1
https://doi.org/10.1158/1078-0432.22461828.v1
Autor:
Cristina Rodríguez-Antona, Magnus Ingelman-Sundberg, Mercedes Robledo, Inger Johansson, Alberto Cascón, Luis J. Leandro-García, Eva Guerra, Beatriz Castelo, Jesús García-Donás, María Sereno, Laura García-Estévez, Isabel Calvo, Gerardo Gutiérrez-Gutiérrez, Lara Sánchez-Barroso, Mi-Young Lee, María Apellániz-Ruiz
Supplementary Figure 2. Neuropathy risk conditions confer an increased risk of paclitaxel-induced neuropathy and a trend towards treatment modifications.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::511616f48c9956749733b8ef3009fb61
https://doi.org/10.1158/1078-0432.22461831.v1
https://doi.org/10.1158/1078-0432.22461831.v1
Autor:
Cristina Rodríguez-Antona, Magnus Ingelman-Sundberg, Mercedes Robledo, Inger Johansson, Alberto Cascón, Luis J. Leandro-García, Eva Guerra, Beatriz Castelo, Jesús García-Donás, María Sereno, Laura García-Estévez, Isabel Calvo, Gerardo Gutiérrez-Gutiérrez, Lara Sánchez-Barroso, Mi-Young Lee, María Apellániz-Ruiz
Purpose: Paclitaxel, a widely used chemotherapeutic drug, can cause peripheral neuropathies leading to dose reductions and treatment suspensions and decreasing the quality of life of patients. It has been suggested that genetic variants altering pacl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f3fcf5f66dcf6f031b5daf03ff37963
https://doi.org/10.1158/1078-0432.c.6524919
https://doi.org/10.1158/1078-0432.c.6524919
Autor:
Cristina Rodríguez-Antona, Magnus Ingelman-Sundberg, Mercedes Robledo, Inger Johansson, Alberto Cascón, Luis J. Leandro-García, Eva Guerra, Beatriz Castelo, Jesús García-Donás, María Sereno, Laura García-Estévez, Isabel Calvo, Gerardo Gutiérrez-Gutiérrez, Lara Sánchez-Barroso, Mi-Young Lee, María Apellániz-Ruiz
Supplementary data. Supplementary figure legends and supplementary tables
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f44d98b5b0ce75b65b58a6d05ce8bfa
https://doi.org/10.1158/1078-0432.22461825
https://doi.org/10.1158/1078-0432.22461825
Autor:
Leanne de Kock, John R. Priest, Anne-Sophie Chong, Dorothée Bouron-Dal Soglio, William D. Foulkes, María Apellániz-Ruiz, William R Doyle, Barbara Rivera
Publikováno v:
Journal of Medical Genetics. 59:723-726
In 2016, we reported a child with bilateral lung cysts and left lung type II pleuropulmonary blastoma (PPB), classic phenotypes of DICER1 syndrome; we identified a DICER1 hotspot mutation c.5425G>A, p.Gly1809Arg in both a lung cyst and PPB, but the v