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Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
De Mori, Roberta; Romani, Marta; D'Arrigo, Stefano; Zaki, Maha S; Lorefice, Elisa; Tardivo, Silvia; Biagini, Tommaso; Stanley, Valentina; Musaev, Damir; Fluss, Joel; Micalizzi, Alessia; Nuovo, Sara; Illi, Barbara; Chiapparini, Luisa; Di Marcotullio, Lucia; Issa, Mahmoud Y; Anello, Danila; Casella, Antonella; Ginevrino, Monia; Leggins, Autumn Sa'na; Roosing, Susanne; Alfonsi, Romina; Rosati, Jessica; Schot, Rachel; Mancini, Grazia Maria Simonetta; Bertini, Enrico; Dobyns, William B; Mazza, Tommaso; Gleeson, Joseph G; Valente, Enza Maria.
Afiliação
  • De Mori R; Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome 00143, Italy; Department of Biological and Environmental Sciences, University of Messina, Messina 98125, Italy.
  • Romani M; Molecular Genetics Laboratory, GENOMA Group, Rome 00138, Italy.
  • D'Arrigo S; Developmental Neurology Division, Foundation IRCCS Neurological Institute Carlo Besta, Milan 20133, Italy.
  • Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.
  • Lorefice E; Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome 00143, Italy.
  • Tardivo S; Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome 00143, Italy.
  • Biagini T; IRCCS Casa Sollievo della Sofferenza, Laboratory of Bioinformatics, San Giovanni Rotondo (FG) 71013, Italy.
  • Stanley V; Laboratory for Pediatric Brain Diseases, Rady Children's Institute for Genomic Medicine, University of California, San Diego, Howard Hughes Medical Institute, La Jolla, CA 92037, USA.
  • Musaev D; Laboratory for Pediatric Brain Diseases, Rady Children's Institute for Genomic Medicine, University of California, San Diego, Howard Hughes Medical Institute, La Jolla, CA 92037, USA.
  • Fluss J; Pediatric Neurology Unit, Geneva Children's Hospital, 1211 Genève 4, Switzerland.
  • Micalizzi A; Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome 00143, Italy; Department of Biological and Environmental Sciences, University of Messina, Messina 98125, Italy.
  • Nuovo S; Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome 00143, Italy; Department of Medicine and Surgery, University of Salerno, Salerno 84081, Italy.
  • Illi B; Institute of Molecular Biology and Pathology, National Research Council, Rome 00185, Italy.
  • Chiapparini L; Neuroradiology Department, Foundation IRCCS Neurological Institute Carlo Besta, Milan 20133, Italy.
  • Di Marcotullio L; Department of Molecular Medicine and Istituto Pasteur Fondazione Cenci Bolognetti, Sapienza University, Rome 00161, Italy.
  • Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.
  • Anello D; Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome 00143, Italy.
  • Casella A; Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome 00143, Italy.
  • Ginevrino M; Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome 00143, Italy; Department of Molecular Medicine, University of Pavia, Pavia 27100, Italy.
  • Leggins AS; Laboratory for Pediatric Brain Diseases, Rady Children's Institute for Genomic Medicine, University of California, San Diego, Howard Hughes Medical Institute, La Jolla, CA 92037, USA.
  • Roosing S; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands.
  • Alfonsi R; Department of Molecular Medicine and Istituto Pasteur Fondazione Cenci Bolognetti, Sapienza University, Rome 00161, Italy.
  • Rosati J; IRCCS Casa Sollievo della Sofferenza, Laboratory of Cellular Reprogramming, San Giovanni Rotondo (FG) 71013, Italy.
  • Schot R; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 CN, the Netherlands.
  • Mancini GMS; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 CN, the Netherlands.
  • Bertini E; Laboratory of Molecular Medicine, Unit of Neuromuscular and NeuroDegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital IRCCS, Rome 00146, Italy.
  • Dobyns WB; Departments of Pediatrics and Neurology, University of Washington, Seattle, WA 98101, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
  • Mazza T; IRCCS Casa Sollievo della Sofferenza, Laboratory of Bioinformatics, San Giovanni Rotondo (FG) 71013, Italy.
  • Gleeson JG; Laboratory for Pediatric Brain Diseases, Rady Children's Institute for Genomic Medicine, University of California, San Diego, Howard Hughes Medical Institute, La Jolla, CA 92037, USA.
  • Valente EM; Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome 00143, Italy; Department of Molecular Medicine, University of Pavia, Pavia 27100, Italy. Electronic address: em.valente@hsantalucia.it.
Am J Hum Genet ; 101(4): 552-563, 2017 Oct 05.
Article em En | MEDLINE | ID: mdl-28965847
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Retina / Anormalidades Múltiplas / Doenças do Desenvolvimento Ósseo / Cerebelo / Anormalidades do Olho / Anormalidades Craniofaciais / Mutação de Sentido Incorreto / Doenças Renais Císticas / Proteínas Hedgehog Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Itália
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Retina / Anormalidades Múltiplas / Doenças do Desenvolvimento Ósseo / Cerebelo / Anormalidades do Olho / Anormalidades Craniofaciais / Mutação de Sentido Incorreto / Doenças Renais Císticas / Proteínas Hedgehog Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Itália