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A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function.
Lam, Michael T; Coppola, Simona; Krumbach, Oliver H F; Prencipe, Giusi; Insalaco, Antonella; Cifaldi, Cristina; Brigida, Immacolata; Zara, Erika; Scala, Serena; Di Cesare, Silvia; Martinelli, Simone; Di Rocco, Martina; Pascarella, Antonia; Niceta, Marcello; Pantaleoni, Francesca; Ciolfi, Andrea; Netter, Petra; Carisey, Alexandre F; Diehl, Michael; Akbarzadeh, Mohammad; Conti, Francesca; Merli, Pietro; Pastore, Anna; Levi Mortera, Stefano; Camerini, Serena; Farina, Luciapia; Buchholzer, Marcel; Pannone, Luca; Cao, Tram N; Coban-Akdemir, Zeynep H; Jhangiani, Shalini N; Muzny, Donna M; Gibbs, Richard A; Basso-Ricci, Luca; Chiriaco, Maria; Dvorsky, Radovan; Putignani, Lorenza; Carsetti, Rita; Janning, Petra; Stray-Pedersen, Asbjorg; Erichsen, Hans Christian; Horne, AnnaCarin; Bryceson, Yenan T; Torralba-Raga, Lamberto; Ramme, Kim; Rosti, Vittorio; Bracaglia, Claudia; Messia, Virginia; Palma, Paolo; Finocchi, Andrea.
Afiliação
  • Lam MT; Department of Pediatrics, Baylor College of Medicine, Houston, TX.
  • Coppola S; Department of Pediatrics, Columbia University, Irving Medical Center, New York, NY.
  • Krumbach OHF; Medical Scientist Training Program and Translational Biology and Molecular Medicine Graduate Program, Baylor College of Medicine, Houston, TX.
  • Prencipe G; National Center for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
  • Insalaco A; Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich-Heine University, Düsseldorf, Germany.
  • Cifaldi C; Immunology Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
  • Brigida I; Immunology Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
  • Zara E; Academic Department of Pediatrics, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
  • Scala S; Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.
  • Di Cesare S; San Raffaele Telethon Institute for Gene Therapy, Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele Scientific Institute, Milan, Italy.
  • Martinelli S; National Center for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
  • Di Rocco M; San Raffaele Telethon Institute for Gene Therapy, Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele Scientific Institute, Milan, Italy.
  • Pascarella A; Academic Department of Pediatrics, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
  • Niceta M; Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.
  • Pantaleoni F; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
  • Ciolfi A; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
  • Netter P; Department of Cellular Biotechnology and Haematology, Sapienza University of Rome, Rome, Italy.
  • Carisey AF; Immunology Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
  • Diehl M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
  • Akbarzadeh M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
  • Conti F; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
  • Merli P; Department of Pediatrics, Baylor College of Medicine, Houston, TX.
  • Pastore A; Department of Pediatrics, Baylor College of Medicine, Houston, TX.
  • Levi Mortera S; Department of Pediatrics, Columbia University, Irving Medical Center, New York, NY.
  • Camerini S; Department of Bioengineering, Rice University, Houston, TX.
  • Farina L; Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich-Heine University, Düsseldorf, Germany.
  • Buchholzer M; Academic Department of Pediatrics, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
  • Pannone L; Department of Pediatric Hematology and Oncology, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
  • Cao TN; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
  • Coban-Akdemir ZH; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
  • Jhangiani SN; Core Facilities, Italian National Institute of Health, Rome, Italy.
  • Muzny DM; National Center for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
  • Gibbs RA; Immunology Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
  • Basso-Ricci L; Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich-Heine University, Düsseldorf, Germany.
  • Chiriaco M; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
  • Dvorsky R; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
  • Putignani L; Department of Pediatrics, Baylor College of Medicine, Houston, TX.
  • Carsetti R; Baylor-Hopkins Center for Mendelian Genomics, Houston, TX.
  • Janning P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
  • Stray-Pedersen A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
  • Erichsen HC; Human Genome Sequencing Center of Baylor College of Medicine, Houston, TX.
  • Horne A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
  • Bryceson YT; Human Genome Sequencing Center of Baylor College of Medicine, Houston, TX.
  • Torralba-Raga L; Baylor-Hopkins Center for Mendelian Genomics, Houston, TX.
  • Ramme K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
  • Rosti V; Human Genome Sequencing Center of Baylor College of Medicine, Houston, TX.
  • Bracaglia C; San Raffaele Telethon Institute for Gene Therapy, Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele Scientific Institute, Milan, Italy.
  • Messia V; Academic Department of Pediatrics, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
  • Palma P; Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich-Heine University, Düsseldorf, Germany.
  • Finocchi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
J Exp Med ; 216(12): 2778-2799, 2019 12 02.
Article em En | MEDLINE | ID: mdl-31601675
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Proteína cdc42 de Ligação ao GTP / Suscetibilidade a Doenças / Linfo-Histiocitose Hemofagocítica Tipo de estudo: Prognostic_studies Limite: Animals / Child / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Proteína cdc42 de Ligação ao GTP / Suscetibilidade a Doenças / Linfo-Histiocitose Hemofagocítica Tipo de estudo: Prognostic_studies Limite: Animals / Child / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article