Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim

EMBO Molecular Medicine

Volumn 10, Issue 1, 2018, Pages 63-75

  Pecci, Alessandro ^a   Ragab, Iman ^b   Bozzi, Valeria ^a   De Rocco, Daniela ^c   Barozzi, Serena ^a   Giangregorio, Tania ^d   Ali, Heba ^b   Melazzini, Federica ^a   Sallam, Mohamed ^b   Alfano, Caterina ^e,f   Pastore, Annalisa ^g   Balduini, Carlo L ^a   Savoia, Anna ^c,d  

^a FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^b AIN SHAMS UNIVERSITY   (Egypt)

^c INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^d UNIVERSITY OF TRIESTE   (Italy)

^e KING'S COLLEGE LONDON   (United Kingdom)

^f RiMED Foundation   (Italy)

^g UNIVERSITY OF PAVIA   (Italy)

Author keywords

congenital amegakaryocytic thrombocytopenia; MPL; mutation; romiplostim; thrombopoietin

Indexed keywords

CYCLOSPORIN A; MITOGEN ACTIVATED PROTEIN KINASE 1; MITOGEN ACTIVATED PROTEIN KINASE 3; OXYMETHOLONE; PROTEIN KINASE B; ROMIPLOSTIM; STAT5 PROTEIN; THROMBOPOIETIN; THROMBOPOIETIN RECEPTOR; FC RECEPTOR; FUSION PROTEIN; MPL PROTEIN, HUMAN;

ADULT; AMINO ACID SUBSTITUTION; ANEMIA; ARTICLE; BINDING SITE; BONE MARROW EXAMINATION; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA; CONGENITAL DISORDER; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME PHOSPHORYLATION; FEMALE; GENE MUTATION; HOMOZYGOSITY; HUMAN; HUMAN CELL; INTRACELLULAR SIGNALING; LEUKOCYTE COUNT; MALE; MEAN CORPUSCULAR VOLUME; MEGAKARYOCYTE; MPL GENE; MUTATIONAL ANALYSIS; NEUTROPENIA; NEUTROPHIL COUNT; PANCYTOPENIA; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN BLOOD LEVEL; PROTEIN EXPRESSION; PROTEIN PHOSPHORYLATION; PROTEIN SYNTHESIS; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; THPO GENE; THROMBOCYTE COUNT; THROMBOCYTE TRANSFUSION; THROMBOCYTOPENIA; TRANSCRIPTION INITIATION SITE; TRANSLATION INITIATION; TREATMENT DURATION; TREATMENT RESPONSE; CELL LINE; DRUG EFFECT; GENETICS; HEK293 CELL LINE; INFANT; PEDIGREE; POINT MUTATION; PRESCHOOL CHILD;

CELL LINE; CHILD, PRESCHOOL; FEMALE; HEK293 CELLS; HUMANS; INFANT; MALE; PEDIGREE; POINT MUTATION; RECEPTORS, FC; RECEPTORS, THROMBOPOIETIN; RECOMBINANT FUSION PROTEINS; THROMBOCYTOPENIA; THROMBOPOIETIN;

EID: 85036544324     PISSN: 17574676     EISSN: 17574684     Source Type: Journal    
DOI: 10.15252/emmm.201708168     Document Type: Article

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