Presence of atypical thrombopoietin receptor (MPL) mutations in triple-negative essential thrombocythemia patients-Reference-Cited by-同舟云学术

Presence of atypical thrombopoietin receptor (MPL) mutations in triple-negative essential thrombocythemia patients

Published:2016-01-21 Issue:3 Volume:127 Page:333-342
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Cabagnols Xénia¹²³,Favale Fabrizia¹²³,Pasquier Florence¹²³,Messaoudi Kahia¹²³,Defour Jean Philippe⁴⁵,Ianotto Jean Christophe⁶,Marzac Christophe⁷,Le Couédic Jean Pierre¹²³,Droin Nathalie¹²³,Chachoua Ilyas⁴⁵,Favier Remi¹²³,Diop M’boyba Khadija¹²³,Ugo Valérie⁸,Casadevall Nicole¹²³⁷,Debili Najet¹²³,Raslova Hana¹²³,Bellanné-Chantelot Christine¹²³⁹,Constantinescu Stefan N.⁴⁵,Bluteau Olivier¹²³,Plo Isabelle¹²³,Vainchenker William¹²³¹⁰

Affiliation:

1. INSERM, Unité Mixte de Recherche (UMR) 1170, Gustave Roussy, Villejuif, France;

2. Université Paris-Saclay, UMR1170, Gustave Roussy, Villejuif, France;

3. UMR1170, Gustave Roussy, Villejuif, France;

4. de Duve Institute, Université Catholique de Louvain, Brussels, Belgium;

5. Ludwig Institute for Cancer Research, Signal Transduction & Molecular Hematology Unit, Brussels, Belgium;

6. Service d’Hématologie, Centre Hospitalier Universitaire (CHU) Brest, Brest, France;

7. Laboratoire d’Hématologie, Hôpital Saint Antoine, Assistance Publique-Hôpitaux de Paris, Paris, France;

8. Laboratoire d’Hématologie, CHU Brest, Brest, France;

9. Département de Génétique, Hôpital Pitié-Salpêtrière, Université Pierre et Marie Curie, Assistance Publique-Hôpitaux de Paris, Paris, France; and

10. Consultation d’Hématologie-Immunologie, Hôpital Saint Louis, Assistance Publique-Hôpitaux de Paris, Paris, France

Abstract

Key Points Enrichment of atypical MPL mutations in essential thrombocythemia. MPLS204P and MPLY591N mutants are weak gain-of-function mutants.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/127/3/333/1393530/333.pdf

Reference49 articles.

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4. Tryptophan at the transmembrane-cytosolic junction modulates thrombopoietin receptor dimerization and activation.;Defour;Proc Natl Acad Sci USA,2013

5. The Asn505 mutation of the c-MPL gene, which causes familial essential thrombocythemia, induces autonomous homodimerization of the c-Mpl protein due to strong amino acid polarity.;Ding;Blood,2009

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