Zobrazeno 1 - 10
of 171
pro vyhledávání: '"Celia Badenas"'
Autor:
Jordi To‐Figueras, Esther Titos, Paula Aguilera, Alba Díaz, Javier Muñoz‐Luque, Irene Madrigal, Celia Badenas, Mercè Torra, Constantino Fondevila, Jordi Colmenero
Publikováno v:
JIMD Reports, Vol 64, Iss 1, Pp 10-16 (2023)
Abstract Acute intermittent porphyria (AIP) is a rare disease caused by a deficiency of hydroxymethylbilane synthase (HMBS), the third enzyme of the heme‐synthesis pathway. Decreased enzymatic activity in the liver induces an overproduction of heme
Externí odkaz:
https://doaj.org/article/8b1c4c929a8f4366a72bf93691d03550
Autor:
Miriam Potrony, Tariq Sami Haddad, Gemma Tell-Martí, Pol Gimenez-Xavier, Carlos Leon, Marta Pevida, Judit Mateu, Celia Badenas, Cristina Carrera, Josep Malvehy, Paula Aguilera, Sara Llames, Maria José Escámez, Joan A. Puig-Butillé, Marcela del Río, Susana Puig
Publikováno v:
Frontiers in Medicine, Vol 8 (2021)
Familial melanoma accounts for 10% of cases, being CDKN2A the main high-risk gene. However, the mechanisms underlying melanomagenesis in these cases remain poorly understood. Our aim was to analyze the transcriptome of melanocyte-keratinocyte co-cult
Externí odkaz:
https://doaj.org/article/a850c7da79184016a1d494670bb72606
Autor:
Jordi To‐Figueras, Esther Titos, Paula Aguilera, Alba Díaz, Javier Muñoz‐Luque, Irene Madrigal, Celia Badenas, Mercè Torra, Constantino Fondevila, Jordi Colmenero
Publikováno v:
JIMD Reports. 64:10-16
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e2ebc58a52210b94422e50c77ece99af
https://doi.org/10.1002/jmd2.12329
https://doi.org/10.1002/jmd2.12329
Autor:
Zoe Mariño, Cristina Molera‐Busoms, Celia Badenas, Jesús Quintero‐Bernabeu, Mercè Torra, Xavier Forns, Rafael Artuch
Publikováno v:
Journal of Inherited Metabolic Disease.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5a69df8f1ea26ad8709e815e18ab5614
https://doi.org/10.1002/jimd.12639
https://doi.org/10.1002/jimd.12639
Autor:
Mercè Brunet, Celia Badenas, Miquel Navasa, Esther Fernández-Galán, Wladimiro Jiménez, Constantino Fondevila, Joan Anton Puig-Butille
Publikováno v:
Liver Transplantation. 28:257-268
Monitoring of graft function is essential during the first months after liver transplantation (LT), but current liver function tests (LFTs) lack the specificity and sensitivity to ensure an efficient diagnosis of acute rejection (AR). Recently, donor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdf794f0e0b35ab2918d80603bc5a769
https://doi.org/10.1002/lt.26272
https://doi.org/10.1002/lt.26272
Autor:
Jordi To-Figueras, Sandra Castaño-Díez, Paula Aguilera, Laura Serra-García, Francesc Alamon-Reig, Daniel Morgado-Carrasco, Celia Badenas, Amanda Isabel Pérez-Valencia
Publikováno v:
Photodermatology, Photoimmunology & Photomedicine. 38:86-91
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cf277d8b57e713af1ee4fcb6fd42432a
https://doi.org/10.1111/phpp.12720
https://doi.org/10.1111/phpp.12720
Autor:
Miriam Potrony, Antoni Borrell, Narcís Masoller, Alfons Nadal, Leonardo Rodriguez-Carunchio, Karmele Saez de Gordoa Elizalde, Juan Francisco Quesada-Espinosa, Jose Luis Villanueva-Cañas, Montse Pauta, Meritxell Jodar, Irene Madrigal, Celia Badenas, Maria Isabel Alvarez-Mora, Laia Rodriguez-Revenga
Lethal congenital contracture syndrome 11 (LCCS11) is caused by homozygous or compound heterozygous variants in the GLDN gene on chromosome 15q21. GLDN encodes gliomedin, a protein required for the formation of the nodes of Ranvier and development of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1f865a3df7d7ed2daec1921cda7964c
http://hdl.handle.net/2445/191265
http://hdl.handle.net/2445/191265
Autor:
María Isabel Alvarez-Mora, Laia Rodríguez-Revenga, Meritxell Jodar, Miriam Potrony, Aurora Sanchez, Celia Badenas, Josep Oriola, José Luis Villanueva-Cañas, Esteban Muñoz, Francesc Valldeoriola, Ana Cámara, Yaroslau Compta, Mar Carreño, María Jose Martí, Raquel Sánchez-Valle, Irene Madrigal
Publikováno v:
Genes; Volume 14; Issue 4; Pages: 813
Neurological disorders (ND) are diseases that affect the brain and the central and autonomic nervous systems, such as neurodevelopmental disorders, cerebellar ataxias, Parkinson’s disease, or epilepsies. Nowadays, recommendations of the American Co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3318fbfe0f4b7d85b57960707133f0e
https://doi.org/10.3390/genes14040813
https://doi.org/10.3390/genes14040813
Autor:
Yuval Yaron, Virginia Borobio, Montse Pauta, Antoni Borrell, Raigam Jafet Martinez-Portilla, Celia Badenas, Anna Soler, Carmen Illanes, Fernanda Paz-y-Miño
Publikováno v:
Human Reproduction (Oxford, England)
STUDY QUESTION Can maternal plasma cell-free DNA (cfDNA) detect chromosomal anomalies in early pregnancy loss (EPL) and recurrent pregnancy loss (RPL)? SUMMARY ANSWER Genome-wide cfDNA testing can serve as an alternative to cytogenetic analysis in pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::408f7049c258f76dacf2c4520951747b
http://europepmc.org/articles/PMC7259365
http://europepmc.org/articles/PMC7259365
Autor:
Anna Pocurull, Jordi To-Figueras, Xavier Forns, Paula Aguilera, Sabela Lens, Zoe Mariño, Celia Badenas, Rafael Oliva, Sergio Rodríguez-Tajes, Concepció Bartres, Lydia Sastre
Publikováno v:
Alimentary Pharmacology & Therapeutics. 51:968-973
Background Hepatitis C virus (HCV) is a risk factor for porphyria cutanea tarda (PCT), a rare disease originating in the liver characterised by overproduction of porphyrins. Although hepatitis C infection is highly prevalent among patients with porph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34aed095d0fe636a5e628bb67b5fa1e7
https://doi.org/10.1111/apt.15703
https://doi.org/10.1111/apt.15703