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Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction.
Bonora, Elena; Bianco, Francesca; Cordeddu, Lina; Bamshad, Michael; Francescatto, Ludmila; Dowless, Dustin; Stanghellini, Vincenzo; Cogliandro, Rosanna F; Lindberg, Greger; Mungan, Zeynel; Cefle, Kivanc; Ozcelik, Tayfun; Palanduz, Sukru; Ozturk, Sukru; Gedikbasi, Asuman; Gori, Alessandra; Pippucci, Tommaso; Graziano, Claudio; Volta, Umberto; Caio, Giacomo; Barbara, Giovanni; D'Amato, Mauro; Seri, Marco; Katsanis, Nicholas; Romeo, Giovanni; De Giorgio, Roberto.
Afiliación
  • Bonora E; Department of Medical and Surgical Sciences, University of Bologna, and St. Orsola-Malpighi Hospital, Bologna, Italy.
  • Bianco F; Department of Medical and Surgical Sciences, University of Bologna, and St. Orsola-Malpighi Hospital, Bologna, Italy.
  • Cordeddu L; Karolinska Institutet, Stockholm, Sweden.
  • Bamshad M; University of Washington Center for Mendelian Genomics, Seattle, Washington.
  • Francescatto L; Center for Human Disease Modeling, Duke University, Durham, North Carolina.
  • Dowless D; Center for Human Disease Modeling, Duke University, Durham, North Carolina.
  • Stanghellini V; Department of Medical and Surgical Sciences, University of Bologna, and St. Orsola-Malpighi Hospital, Bologna, Italy.
  • Cogliandro RF; Department of Medical and Surgical Sciences, University of Bologna, and St. Orsola-Malpighi Hospital, Bologna, Italy.
  • Lindberg G; Karolinska Institutet, Stockholm, Sweden.
  • Mungan Z; Koc University of Istanbul, Istanbul, Turkey.
  • Cefle K; Istanbul Medical Faculty, Department of Internal Medicine, Division of Medical Genetics, Turkey.
  • Ozcelik T; Bilkent University, Bilkent, Ankara, Turkey.
  • Palanduz S; Istanbul Medical Faculty, Department of Internal Medicine, Division of Medical Genetics, Turkey.
  • Ozturk S; Istanbul Medical Faculty, Department of Internal Medicine, Division of Medical Genetics, Turkey.
  • Gedikbasi A; Istanbul Medical Faculty, Department of Internal Medicine, Division of Medical Genetics, Turkey.
  • Gori A; Department of Medical and Surgical Sciences, University of Bologna, and St. Orsola-Malpighi Hospital, Bologna, Italy.
  • Pippucci T; Department of Medical and Surgical Sciences, University of Bologna, and St. Orsola-Malpighi Hospital, Bologna, Italy.
  • Graziano C; Department of Medical and Surgical Sciences, University of Bologna, and St. Orsola-Malpighi Hospital, Bologna, Italy.
  • Volta U; Department of Medical and Surgical Sciences, University of Bologna, and St. Orsola-Malpighi Hospital, Bologna, Italy.
  • Caio G; Department of Medical and Surgical Sciences, University of Bologna, and St. Orsola-Malpighi Hospital, Bologna, Italy.
  • Barbara G; Department of Medical and Surgical Sciences, University of Bologna, and St. Orsola-Malpighi Hospital, Bologna, Italy.
  • D'Amato M; Karolinska Institutet, Stockholm, Sweden.
  • Seri M; Department of Medical and Surgical Sciences, University of Bologna, and St. Orsola-Malpighi Hospital, Bologna, Italy.
  • Katsanis N; Center for Human Disease Modeling, Duke University, Durham, North Carolina.
  • Romeo G; Department of Medical and Surgical Sciences, University of Bologna, and St. Orsola-Malpighi Hospital, Bologna, Italy. Electronic address: egf.giovanni.romeo@gmail.com.
  • De Giorgio R; Department of Medical and Surgical Sciences, University of Bologna, and St. Orsola-Malpighi Hospital, Bologna, Italy; Centro Unificato di Ricerca Biomedica Applicata, Bologna, Italy. Electronic address: roberto.degiorgio@unibo.it.
Gastroenterology ; 148(4): 771-782.e11, 2015 Apr.
Article en En | MEDLINE | ID: mdl-25575569

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fosfoproteínas / Seudoobstrucción Intestinal / ARN Mensajero / Proteínas Nucleares / Sistema Nervioso Entérico / Proteínas de Ciclo Celular / Proteínas de Pez Cebra / Subunidad alfa 2 del Factor de Unión al Sitio Principal / Apolipoproteína B-100 / Motilidad Gastrointestinal Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Animals / Female / Humans / Male / Middle aged Idioma: En Revista: Gastroenterology Año: 2015 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fosfoproteínas / Seudoobstrucción Intestinal / ARN Mensajero / Proteínas Nucleares / Sistema Nervioso Entérico / Proteínas de Ciclo Celular / Proteínas de Pez Cebra / Subunidad alfa 2 del Factor de Unión al Sitio Principal / Apolipoproteína B-100 / Motilidad Gastrointestinal Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Animals / Female / Humans / Male / Middle aged Idioma: En Revista: Gastroenterology Año: 2015 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Estados Unidos