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Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.
Flex, Elisabetta; Albadri, Shahad; Radio, Francesca Clementina; Cecchetti, Serena; Lauri, Antonella; Priolo, Manuela; Kissopoulos, Marta; Carpentieri, Giovanna; Fasano, Giulia; Venditti, Martina; Magliocca, Valentina; Bellacchio, Emanuele; Welch, Carrie L; Colombo, Paolo C; Kochav, Stephanie M; Chang, Richard; Barrick, Rebekah; Trivisano, Marina; Micalizzi, Alessia; Borghi, Rossella; Messina, Elena; Mancini, Cecilia; Pizzi, Simone; De Santis, Flavia; Rosello, Marion; Specchio, Nicola; Compagnucci, Claudia; McWalter, Kirsty; Chung, Wendy K; Del Bene, Filippo; Tartaglia, Marco.
Afiliación
  • Flex E; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
  • Albadri S; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 17 Rue Moreau, F-75012 Paris, France.
  • Radio FC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
  • Cecchetti S; Core Facilities, Istituto Superiore di Sanità, 00161 Rome, Italy.
  • Lauri A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
  • Priolo M; UOSD Genetica Medica, Grande Ospedale Metropolitano "Bianchi Melacrino Morelli", 89124 Reggio Calabria, Italy.
  • Kissopoulos M; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
  • Carpentieri G; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
  • Fasano G; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
  • Venditti M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
  • Magliocca V; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
  • Bellacchio E; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
  • Welch CL; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
  • Colombo PC; Department of Pediatrics, Columbia University Irving Medical Center, NY, New York 10032, USA.
  • Kochav SM; Department of Medicine, Columbia University Irving Medical Center, NY, New York 10032, USA.
  • Chang R; Department of Medicine, Columbia University Irving Medical Center, NY, New York 10032, USA.
  • Barrick R; Division of Metabolic Disorders, Children's Hospital of Orange County (CHOC), CA, Orange 92868, USA.
  • Trivisano M; Division of Metabolic Disorders, Children's Hospital of Orange County (CHOC), CA, Orange 92868, USA.
  • Micalizzi A; Department of Neuroscience, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
  • Borghi R; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
  • Messina E; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
  • Mancini C; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
  • Pizzi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
  • De Santis F; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
  • Rosello M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
  • Specchio N; Institut Curie, PSL Research University, INSERM U934, CNRS UMR3215 Paris, France.
  • Compagnucci C; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 17 Rue Moreau, F-75012 Paris, France.
  • McWalter K; Department of Neuroscience, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
  • Chung WK; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
  • Del Bene F; GeneDx, Gaithersburg, MD 20877, USA.
  • Tartaglia M; Department of Pediatrics, Columbia University Irving Medical Center, NY, New York 10032, USA.
Hum Mol Genet ; 32(3): 473-488, 2023 01 13.
Article en En | MEDLINE | ID: mdl-36018820
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cinesinas Tipo de estudio: Prognostic_studies Límite: Animals / Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cinesinas Tipo de estudio: Prognostic_studies Límite: Animals / Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Reino Unido