caa a22 4500 605544026 CHVBK 20210128100929.0 cr unu---uuuuu 210128e20151101xx s 000 0 eng 10.1007/s00109-015-1306-y doi (NATIONALLICENCE)springer-10.1007/s00109-015-1306-y Functional and in silico assessment of MAX variants of unknown significance [Elektronische Daten] [Iñaki Comino-Méndez, Luis Leandro-García, Guillermo Montoya, Lucía Inglada-Pérez, Aguirre de Cubas, María Currás-Freixes, Carolyn Tysoe, Louise Izatt, Rocío Letón, Álvaro Gómez-Graña, Veronika Mancikova, María Apellániz-Ruiz, Massimo Mannelli, Francesca Schiavi, Judith Favier, Anne-Paule Gimenez-Roqueplo, Henri Timmers, Giovanna Roncador, Juan Garcia, Cristina Rodríguez-Antona, Mercedes Robledo, Alberto Cascón] Springer-Verlag Berlin Heidelberg, 2015 Pheochromocytoma nationallicence Paraganglioma nationallicence PC12 cells nationallicence Variants of unknown significance nationallicence MAX nationallicence Comino-Méndez Iñaki Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029, Madrid, Spain aut Leandro-García Luis Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029, Madrid, Spain aut Montoya Guillermo Macromolecular Crystallography Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain aut Inglada-Pérez Lucía Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029, Madrid, Spain aut de Cubas Aguirre Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029, Madrid, Spain aut Currás-Freixes María Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029, Madrid, Spain aut Tysoe Carolyn Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK aut Izatt Louise Department of Clinical Genetics, Guy's and St Thomas' Foundation Trust, Guy's Hospital, London, UK aut Letón Rocío Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029, Madrid, Spain aut Gómez-Graña Álvaro Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029, Madrid, Spain aut Mancikova Veronika Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029, Madrid, Spain aut Apellániz-Ruiz María Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029, Madrid, Spain aut Mannelli Massimo Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy aut Schiavi Francesca Familial Cancer Clinic and Oncoendocrinology, Veneto Institute of Oncology IRCCS, Padova, Italy aut Favier Judith INSERM, UMR970, Paris-Cardiovascular Research Center, and Université Paris Descartes, Sorbonne Paris Cité, Faculté de Médecine, Paris, France aut Gimenez-Roqueplo Anne-Paule INSERM, UMR970, Paris-Cardiovascular Research Center, and Université Paris Descartes, Sorbonne Paris Cité, Faculté de Médecine, Paris, France aut Timmers Henri Department of Medicine, Division of Endocrinology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands aut Roncador Giovanna Monoclonal Antibodies Unit, Biotechnology Programme, Spanish National Cancer Research Centre (CNIO), Madrid, Spain aut Garcia Juan Department of Pathology, M D Anderson Cancer Center Madrid, Madrid, Spain aut Rodríguez-Antona Cristina Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029, Madrid, Spain aut Robledo Mercedes Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029, Madrid, Spain aut Cascón Alberto Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029, Madrid, Spain aut Journal of Molecular Medicine Springer Berlin Heidelberg 93/11(2015-11-01), 1247-1255 0946-2716 93:11<1247 2015 93 109 https://doi.org/10.1007/s00109-015-1306-y text/html Onlinezugriff via DOI BK010053 XK010053 XK010000 Metadata rights reserved Springer special CC-BY-NC licence nationallicence 1 research-article jats NATIONALLICENCE NATIONALLICENCE NL-springer NATIONALLICENCE 856 40 https://doi.org/10.1007/s00109-015-1306-y text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Comino-Méndez Iñaki Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029, Madrid, Spain aut NATIONALLICENCE 700 1- Leandro-García Luis Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029, Madrid, Spain aut NATIONALLICENCE 700 1- Montoya Guillermo Macromolecular Crystallography Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain aut NATIONALLICENCE 700 1- Inglada-Pérez Lucía Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029, Madrid, Spain aut NATIONALLICENCE 700 1- de Cubas Aguirre Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029, Madrid, Spain aut NATIONALLICENCE 700 1- Currás-Freixes María Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029, Madrid, Spain aut NATIONALLICENCE 700 1- Tysoe Carolyn Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK aut NATIONALLICENCE 700 1- Izatt Louise Department of Clinical Genetics, Guy's and St Thomas' Foundation Trust, Guy's Hospital, London, UK aut NATIONALLICENCE 700 1- Letón Rocío Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029, Madrid, Spain aut NATIONALLICENCE 700 1- Gómez-Graña Álvaro Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029, Madrid, Spain aut NATIONALLICENCE 700 1- Mancikova Veronika Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029, Madrid, Spain aut NATIONALLICENCE 700 1- Apellániz-Ruiz María Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029, Madrid, Spain aut NATIONALLICENCE 700 1- Mannelli Massimo Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy aut NATIONALLICENCE 700 1- Schiavi Francesca Familial Cancer Clinic and Oncoendocrinology, Veneto Institute of Oncology IRCCS, Padova, Italy aut NATIONALLICENCE 700 1- Favier Judith INSERM, UMR970, Paris-Cardiovascular Research Center, and Université Paris Descartes, Sorbonne Paris Cité, Faculté de Médecine, Paris, France aut NATIONALLICENCE 700 1- Gimenez-Roqueplo Anne-Paule INSERM, UMR970, Paris-Cardiovascular Research Center, and Université Paris Descartes, Sorbonne Paris Cité, Faculté de Médecine, Paris, France aut NATIONALLICENCE 700 1- Timmers Henri Department of Medicine, Division of Endocrinology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Roncador Giovanna Monoclonal Antibodies Unit, Biotechnology Programme, Spanish National Cancer Research Centre (CNIO), Madrid, Spain aut NATIONALLICENCE 700 1- Garcia Juan Department of Pathology, M D Anderson Cancer Center Madrid, Madrid, Spain aut NATIONALLICENCE 700 1- Rodríguez-Antona Cristina Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029, Madrid, Spain aut NATIONALLICENCE 700 1- Robledo Mercedes Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029, Madrid, Spain aut NATIONALLICENCE 700 1- Cascón Alberto Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029, Madrid, Spain aut NATIONALLICENCE 773 0- Journal of Molecular Medicine Springer Berlin Heidelberg 93/11(2015-11-01), 1247-1255 0946-2716 93:11<1247 2015 93 109