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16 results on '"Kralova, Barbora"'

1. Elevated erythroferrone distinguishes erythrocytosis with inherited defects in oxygen‐sensing pathway from primary familial and congenital polycythaemia

Author

Sochorcova, Lucie, primary, Hlusickova Kapralova, Katarina, additional, Fialova Kucerova, Jana, additional, Pospisilova, Dagmar, additional, Prochazkova, Daniela, additional, Jahoda, Ondrej, additional, Kurekova, Simona, additional, Kralova, Barbora, additional, Divoka, Martina, additional, Navratilova, Jana, additional, Manakova, Jirina, additional, Kriegova, Eva, additional, Indrak, Karel, additional, Faber, Edgar, additional, Divoky, Vladimir, additional, and Horvathova, Monika, additional

Published
2023
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5. Cooccurring JAK2 V617F and R1063H mutations increase JAK2 signaling and neutrophilia in myeloproliferative neoplasms

Author

Mambet, Cristina, Babosova, Olga, Defour, Jean-Philippe, Leroy, Emilie, Necula, Laura, Stanca, Oana, Tatic, Aurelia, Berbec, Nicoleta, Coriu, Daniel, Belickova, Monika, Kralova, Barbora, Lanikova, Lucie, Vesela, Jitka, Pecquet, Christian, Saussoy, Pascale, Havelange, Violaine, Diaconu, Carmen C., Divoky, Vladimir, and Constantinescu, Stefan N.

Published
2018
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6. Cooccurring V617F and R1063H mutations increase JAK2 signaling and neutrophilia in myeloproliferative neoplasms

Author

Mambet, Cristina, Babosova, Olga, Defour, Jean-Philippe, Leroy, Emilie, Necula, Laura, Stanca, Oana, Tatic, Aurelia, Berbec, Nicoleta, Coriu, Daniel, Belickova, Monika, Kralova, Barbora, Lanikova, Lucie, Vesela, Jitka, Pecquet, Christian, Saussoy, Pascale, Havelange, Violaine, Diaconu, Carmen C, Divoky, Vladimir, Constantinescu, Stefan N, UCL - SSS/DDUV - Institut de Duve, UCL - SSS/DDUV/MEXP - Médecine expérimentale, UCL - SSS/DDUV/SIGN - Cell signalling, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Service de biologie hématologique, UCL - (SLuc) Service d'hématologie, UCL - (SLuc) Centre du cancer, and UCL - (SLuc) Département de biologie clinique et d'anatomie pathologique

Subjects
Male, Myeloproliferative Disorders, Amino Acid Substitution, hemic and lymphatic diseases, Mutation, Missense, food and beverages, Humans, Female, Janus Kinase 2, Signal Transduction
Abstract

Although the concept of somatic driver mutations in myeloproliferative neoplasms (MPNs) represented by polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis is well established,1-3 the contribution of germline or co-occurring JAK2 variants to a particular MPN phenotype is less well understood.4,5 Recently, 2 germline JAK2 mutations, E846D and R1063H, were described in a case of hereditary erythrocytosis6 ; the same JAK2 R1063H variant was initially reported in 3 of 93 PV patients who were JAK2 V617F+. [...]

Published
2018

8. JAK2 R1063H Variant Enhances V617F Constitutive Signaling and Favors Development of Essential Thrombocythemia with Increased Hemoglobin and Neutrophils

Author

Mambet, Cristina, primary, Defour, Jean-Philippe, additional, Babosova, Olga, additional, Leroy, Emilie, additional, Necula, Laura, additional, Stanca, Oana, additional, Tatic, Aurelia, additional, Coriu, Daniel, additional, Belickova, Monika, additional, Kralova, Barbora, additional, Lanikova, Lucie, additional, Saussoy, Pascale, additional, Havelange, Violaine, additional, Diaconu, Carmen C., additional, Divoky, Vladimir, additional, and Constantinescu, Stefan N, additional

Published
2018
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10. Cooccurring V617F and R1063H mutations increase JAK2 signaling and neutrophilia in myeloproliferative neoplasms.

Author

UCL - SSS/DDUV - Institut de Duve, UCL - SSS/DDUV/MEXP - Médecine expérimentale, UCL - SSS/DDUV/SIGN - Cell signalling, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Service de biologie hématologique, UCL - (SLuc) Service d'hématologie, UCL - (SLuc) Centre du cancer, Mambet, Cristina, Babosova, Olga, Defour, Jean-Philippe, Leroy, Emilie, Necula, Laura, Stanca, Oana, Tatic, Aurelia, Berbec, Nicoleta, Coriu, Daniel, Belickova, Monika, Kralova, Barbora, Lanikova, Lucie, Vesela, Jitka, Pecquet, Christian, Saussoy, Pascale, Havelange, Violaine, Diaconu, Carmen C, Divoky, Vladimir, Constantinescu, Stefan N., UCL - SSS/DDUV - Institut de Duve, UCL - SSS/DDUV/MEXP - Médecine expérimentale, UCL - SSS/DDUV/SIGN - Cell signalling, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Service de biologie hématologique, UCL - (SLuc) Service d'hématologie, UCL - (SLuc) Centre du cancer, Mambet, Cristina, Babosova, Olga, Defour, Jean-Philippe, Leroy, Emilie, Necula, Laura, Stanca, Oana, Tatic, Aurelia, Berbec, Nicoleta, Coriu, Daniel, Belickova, Monika, Kralova, Barbora, Lanikova, Lucie, Vesela, Jitka, Pecquet, Christian, Saussoy, Pascale, Havelange, Violaine, Diaconu, Carmen C, Divoky, Vladimir, and Constantinescu, Stefan N.

Abstract

Although the concept of somatic driver mutations in myeloproliferative neoplasms (MPNs) represented by polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis is well established,1-3 the contribution of germline or co-occurring JAK2 variants to a particular MPN phenotype is less well understood.4,5 Recently, 2 germline JAK2 mutations, E846D and R1063H, were described in a case of hereditary erythrocytosis6 ; the same JAK2 R1063H variant was initially reported in 3 of 93 PV patients who were JAK2 V617F+. [...]

Published
2018

11. Cooperation of germ line JAK2 mutations E846D and R1063H in hereditary erythrocytosis with megakaryocytic atypia.

Author

UCL - SSS/DDUV - Institut de Duve, UCL - (SLuc) Service de biologie hématologique, Kapralova, Katarina, Horvathova, Monika, Pecquet, Christian, Fialova Kucerova, Jana, Pospisilova, Dagmar, Leroy, Emilie, Kralova, Barbora, Milosevic Feenstra, Jelena D, Schischlik, Fiorella, Kralovics, Robert, Constantinescu, Stefan N., Divoky, Vladimir, UCL - SSS/DDUV - Institut de Duve, UCL - (SLuc) Service de biologie hématologique, Kapralova, Katarina, Horvathova, Monika, Pecquet, Christian, Fialova Kucerova, Jana, Pospisilova, Dagmar, Leroy, Emilie, Kralova, Barbora, Milosevic Feenstra, Jelena D, Schischlik, Fiorella, Kralovics, Robert, Constantinescu, Stefan N., and Divoky, Vladimir

Abstract

The role of somatic JAK2 mutations in clonal myeloproliferative neoplasms (MPNs) is well established. Recently, germ line JAK2 mutations were associated with polyclonal hereditary thrombocytosis and triple-negative MPNs. We studied a patient who inherited 2 heterozygous JAK2 mutations, E846D from the mother and R1063H from the father, and exhibited erythrocytosis and megakaryocytic atypia but normal platelet number. Culture of erythroid progenitors from the patient and his parents revealed hypersensitivity to erythropoietin (EPO). Using cellular models, we show that both E846D and R1063H variants lead to constitutive signaling (albeit much weaker than JAK2 V617F), and both weakly hyperactivate JAK2/STAT5 signaling only in the specific context of the EPO receptor (EPOR). JAK2 E846D exhibited slightly stronger effects than JAK2 R1063H and caused prolonged EPO-induced phosphorylation of JAK2/STAT5 via EPOR. We propose that JAK2 E846D predominantly contributes to erythrocytosis, but is not sufficient for the full pathological phenotype to develop. JAK2 R1063H, with very weak effect on JAK2/STAT5 signaling, is necessary to augment JAK2 activity caused by E846D above a threshold level leading to erythrocytosis with megakaryocyte abnormalities. Both mutations were detected in the germ line of rare polycythemia vera, as well as certain leukemia patients, suggesting that they might predispose to hematological malignancy. Stefan N. Constantinescu and Vladimir Divoky are co-last Author

Published
2016

16. Cooccurring JAK2V617F and R1063H mutations increase JAK2 signaling and neutrophilia in myeloproliferative neoplasms

Author

Mambet, Cristina, Babosova, Olga, Defour, Jean-Philippe, Leroy, Emilie, Necula, Laura, Stanca, Oana, Tatic, Aurelia, Berbec, Nicoleta, Coriu, Daniel, Belickova, Monika, Kralova, Barbora, Lanikova, Lucie, Vesela, Jitka, Pecquet, Christian, Saussoy, Pascale, Havelange, Violaine, Diaconu, Carmen C., Divoky, Vladimir, and Constantinescu, Stefan N.

Published
2018
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