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11 p, 5.0 MB |
Fibroblast activation and abnormal extracellular matrix remodelling as common hallmarks in three cancer-prone genodermatoses
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Chacón-Solano, Esteban (Regenerative Medicine and Tissue Engineering Group. Fundación Jiménez Díaz (IIS-FJD)) ;
León Canseco, Carlos (Regenerative Medicine and Tissue Engineering Group. Fundación Jiménez Díaz (IIS-FJD)) ;
Díaz, F. (Regenerative Medicine and Tissue Engineering Group. Fundación Jiménez Díaz (IIS-FJD)) ;
García-García, Francisco (Bioinformatics and Biostatistics Unit. Centro de Investigación Príncipe Felipe (CIPF)) ;
García, M. (Epithelial Biomedicine Division. CIEMAT-CIBERER (U714)) ;
Escámez Toledano, María José (Epithelial Biomedicine Division. CIEMAT-CIBERER (U714)) ;
Guerrero-Aspizua, Sara (Epithelial Biomedicine Division. CIEMAT-CIBERER (U714)) ;
Conti, C.J. (Regenerative Medicine and Tissue Engineering Group. Fundación Jiménez Díaz (IIS-FJD)) ;
Mencía, None (Regenerative Medicine and Tissue Engineering Group. Fundación Jiménez Díaz (IIS-FJD)) ;
Martínez-Santamaría, L. (Regenerative Medicine and Tissue Engineering Group. Fundación Jiménez Díaz (IIS-FJD)) ;
Llames, S. (Tissue Engineering Unit. Centro Comunitario Sangre y Tejidos (CCST)) ;
Pévida, M. (Tissue Engineering Unit. Centro Comunitario Sangre y Tejidos (CCST)) ;
Carbonell-Caballero, J. (Department of Computational Genomics. Centro de Investigación Príncipe Felipe (CIPF)) ;
Puig-Butille, Joan Anton (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Maseda, R. (Department of Pediatric Dermatology. La Paz Hospital) ;
Puig, Susana (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
de Lucas, R. (Department of Pediatric Dermatology. La Paz Hospital) ;
Baselga Torres, Eulàlia (Institut d'Investigació Biomèdica Sant Pau) ;
Larcher, F. (Epithelial Biomedicine Division. CIEMAT-CIBERER (U714)) ;
Dopazo, J. (Bioinformatics in Rare Diseases (BiER-U715). CIBERER. FPS. Hospital Virgen del Rocío) ;
del Río, M. (Epithelial Biomedicine Division. CIEMAT-CIBERER (U714))
Background: Recessive dystrophic epidermolysis bullosa (RDEB), Kindler syndrome (KS) and xeroderma pigmentosum complementation group C (XPC) are three cancer-prone genodermatoses whose causal genetic mutations cannot fully explain, on their own, the array of associated phenotypic manifestations. [...]
2019 -  10.1111/bjd.17698
British journal of dermatology, Vol. 181 Núm. 3 (january 2019) , p. 512-522
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7 p, 312.9 KB |
Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome
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Elias-Mas, Andrea (Universitat de Barcelona) ;
Potrony, Miriam (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Bague, Jaume (Hospital Clínic i Provincial de Barcelona) ;
Cutler, David J. (Emory University School of Medicine) ;
Álvarez-Mora, María Isabel (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Torres, Teresa (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Barcos, Tamara (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Puig-Butille, Joan Anton (Hospital Clínic i Provincial de Barcelona) ;
Rubio, Marta (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Madrigal, Irene (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Puig, Susana (Hospital Clínic i Provincial de Barcelona) ;
Allen, Emily G. (Emory University School of Medicine (Estats Units d'Amèrica)) ;
Rodriguez-Revenga, Laia (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Universitat Autònoma de Barcelona
Fragile X-associated tremor/ataxia syndrome (FXTAS, OMIM# 300623) is a late-onset neurodegenerative disorder with reduced penetrance that appears in adult FMR1 premutation carriers (55-200 CGGs). Clinical symptoms in FXTAS patients usually begin with an action tremor. [...]
2023 - 10.3389/fnagi.2022.1073258
Frontiers in aging neuroscience, Vol. 14 (january 2023)
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10 p, 749.0 KB |
Characterization of individuals at high risk of developing melanoma in Latin America : bases for genetic counseling in melanoma
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Puig, Susana (Universitat de Barcelona. Departament de Medicina) ;
Potrony, Miriam (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Cuellar, Francisco (Consejo Nacional de Ciencia y Tecnología (CONACYT)) ;
Puig-Butille, Joan Anton (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Carrera, Cristina (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Aguilera, Paula (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Nagore, Eduardo (Universidad Católica de Valencia) ;
Garcia-Casado, Zaida (Instituto Valenciano Oncologia) ;
Requena, Celia (Fundació Institut Valencià d'Oncologia) ;
Kumar, Rajiv (Division of Molecular Genetic Epidemiology, German Cancer Research Center) ;
Landman, Gilles (International Research Center, AC Camargo Cancer Center) ;
Costa Soares de Sá, Bianca (International Research Center, AC Camargo Cancer Center) ;
Gargantini Rezze, Gisele (International Research Center, AC Camargo Cancer Center) ;
Facure, Luciana (International Research Center, AC Camargo Cancer Center) ;
de Avila, Alexandre Leon Ribeiro (International Research Center, AC Camargo Cancer Center) ;
Achatz, Maria Isabel (International Research Center, AC Camargo Cancer Center) ;
Carraro, Dirce Maria (International Research Center, AC Camargo Cancer Center) ;
Duprat Neto, João Pedreira (International Research Center, AC Camargo Cancer Center) ;
Grazziotin, Thais C. (Dermatology Department and Post-Graduation Program of Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA)) ;
Bonamigo, Renan R. (Dermatology Department and Post-Graduation Program of Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA)) ;
Rey, Maria Carolina W. (Dermatology Department and Post-Graduation Program of Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA)) ;
Balestrini, Claudia (Servicio de Dermatología, Hospital Dr. Sótero del Río) ;
Morales, Enrique (Servicio de Dermatología, Hospital San Juan de Dios) ;
Molgo, Montserrat (Pontificia Universidad Católica de Chile) ;
Bakos, Renato Marchiori (Hospital de Clínicas de Porto Alegre (Brasil)) ;
Ashton-Prolla, Patricia (Hospital de Clínicas de Porto Alegre (Brasil)) ;
Giugliani, Roberto (Hospital de Clínicas de Porto Alegre (Brasil)) ;
Larre Borges, Alejandra (Universidad de la República (Montevideo, Uruguai)) ;
Barquet, Virginia (Universidad de la República (Montevideo, Uruguai)) ;
Pérez, Javiera (Universidad de la República (Montevideo, Uruguai)) ;
Martínez, Miguel (Universidad de la República (Montevideo, Uruguai)) ;
Cabo, Horacio (Consultorio Dermatológico Drs. Cohen Sabban y Cabo) ;
Cohen Sabban, Emilia (Consultorio Dermatológico Drs. Cohen Sabban y Cabo) ;
Latorre, Clara (Consultorio Dermatológico Drs. Cohen Sabban y Cabo) ;
Carlos-Ortega, Blanca (Hospital Especialidades Centro Medico Nacional La Raza) ;
Salas-Alanis, Julio C.. (Departamento de Ciencias Básicas, Escuela de Medicina Universidad de Monterrey) ;
Gonzalez, Roger (Hospital Universitario. Dr. José Eleuterio González (Monterrey, Mèxic)) ;
Olazaran, Zulema (Hospital Universitario. Dr. José Eleuterio González (Monterrey, Mèxic)) ;
Malvehy, Josep (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Badenas, Celia (Institut d'Investigacions Biomèdiques August Pi i Sunyer)
CDKN2A is the main high-risk melanoma-susceptibility gene, but it has been poorly assessed in Latin America. We sought to analyze CDKN2A and MC1R in patients from Latin America with familial and sporadic multiple primary melanoma (SMP) and compare the data with those for patients from Spain to establish bases for melanoma genetic counseling in Latin America. [...]
2015 - 10.1038/gim.2015.160
Genetics in medicine, Vol. 18 (december 2015) , p. 727-736
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