Leila Varghese

A typical acute lymphoblastic leukemia JAK2 variant, R683G, causes an aggressive form of familial thrombocytosis when germline.

Gonzalo Carreño-Tarragona, Leila N Varghese, Elena Sebastián, Eva Gálvez, Alberto Marín-Sánchez, Nieves López-Muñoz, Syonghyun Nam-Cha, Joaquín Martínez-López, Stefan N Constantinescu, Julián Sevilla, Rosa Ayala

Journal article  |  2021  |  Leukemia

CALR mutant protein rescues the response of MPL p.R464G variant associated with CAMT to eltrombopag

Francesca Basso-Valentina, Gabriel Levy, Leila N Varghese, Myriam Oufadem, Benedicte Neven, Charlotte Boussard, Nathalie Balayn, Caroline Marty, William Vainchenker, Isabelle Plo, Paola Ballerini, Stefan N Constantinescu, Remi Favier, Hana Raslova

Journal article  |  2021  |  BLOOD

Congenital amegakaryocytic thrombocytopenia (CAMT) is a severe inherited thrombocytopenia due to loss-of-function mutations affect..

MPL mutations in essential thrombocythemia uncover a common path of activation with eltrombopag dependent on W491

Gabriel Levy, Serge Carillo, Benjamin Papoular, Bruno Cassinat, Jean-Marc Zini, Emilie Leroy, Leila N Varghese, Ilyas Chachoua, Jean-Philippe Defour, Steven O Smith, Stefan N Constantinescu

Journal article  |  2020  |  BLOOD

Mutations in the MPL gene encoding the human thrombopoietin receptor (TpoR) drive sporadic and familial essential thrombocythemias..

MPL membrane domain sequencing goes deep

Stefan N Constantinescu, Leila N Varghese

Journal article  |  2020  |  BLOOD

Mechanisms of Progression of Myeloid Preleukemia to Transformed Myeloid Leukemia in Children with Down Syndrome (vol 36, pg 123, 2019)

Maurice Labuhn, Kelly Perkins, Soren Matzk, Leila Varghese, Catherine Garnett, Elli Papaemmanuil, Marlen Metzner, Alison Kennedy, Vyacheslav Amstislavskiy, Thomas Risch, Raj Bhayadia, David Samulowski, David Cruz Hernandez, Bilyana Stoilova, Valentina Iotchkova, Udo Oppermann, Carina Scheer, Kenichi Yoshida, Adrian Schwarzer, Jeffrey W Taub, et al.

Journal article  |  2019  |  CANCER CELL

(Cancer Cell 36, 123–138.e1–e10; August 12, 2019) As a result of an author oversight in the originally published version of this a..

Mechanisms of Progression of Myeloid Preleukemia to Transformed Myeloid Leukemia in Children with Down Syndrome

Maurice Labuhn, Kelly Perkins, Soeren Matzk, Leila Varghese, Catherine Garnett, Elli Papaemmanuil, Marlen Metzner, Alison Kennedy, Vyacheslav Amstislayskiy, Thomas Risch, Raj Bhayadia, David Samulowski, David Cruz Hernandez, Bilyana Stoilova, Valentina Lotchkova, Udo Oppermann, Carina Scheer, Kenichi Yoshida, Adrian Schwarzer, Jeffrey Taub, et al.

Journal article  |  2019  |  CANCER CELL

Myeloid leukemia in Down syndrome (ML-DS) clonally evolves from transient abnormal myelopoiesis (TAM), a preleukemic condition in ..

PS998 JANUS KINASE AND CYTOKINE RECEPTOR MUTATIONS IN TRANSIENT ABNORMAL MYELOPOIESIS AND MYELOID LEUKEMIA IN CHILDREN WITH TRISOMY 21

M Labuhn, K Perkins, E Papaemmanuil, S Matzk, L Varghese, V Amstislavskiy, T Risch, C Garnett, V Iotchkova, C Scheer, K Yoshida, A Schwarzer, J Taub, JD Crispino, MJ Weiss, E Ito, S Ogawa, D Reinhardt, M-L Yaspo, PJ Campbell, et al.

Journal article  |  2019  |  HemaSphere

The role of the thrombopoietin receptor MPL in myeloproliferative neoplasms: recent findings and potential therapeutic applications

William Vainchenker, Isabelle Plo, Caroline Marty, Leila N Varghese, Stefan N Constantinescu

Journal article  |  2019  |  EXPERT REVIEW OF HEMATOLOGY

Introduction: Classical Myeloproliferative Neoplasms (MPNs) include three disorders: Polycythemia Vera (PV), Essential Thrombocyth..

The Thrombopoietin Receptor: Structural Basis of Traffic and Activation by Ligand, Mutations, Agonists, and Mutated Calreticulin

Leila N Varghese, Jean-Philippe Defour, Christian Pecquet, Stefan N Constantinescu

Journal article  |  2017  |  FRONTIERS IN ENDOCRINOLOGY

A well-functioning hematopoietic system requires a certain robustness and flexibility to maintain appropriate quantities of functi..

An incomplete trafficking defect to the cell-surface leads to paradoxical thrombocytosis for human and murine MPL P106L

Fabrizia Favale, Kahia Messaoudi, Leila N Varghese, Siham Boukour, Christian Pecquet, Vitalina Gryshkova, Jean Philippe Defour, Roxana-Irina Albu, Olivier Bluteau, Paola Ballerini, Guy Leverger, Isabelle Plo, Najet Debili, Hana Raslova, Remi Favier, Stefan N Constantinescu, William Vainchenker

Journal article  |  2016  |  BLOOD

The mechanisms behind the hereditary thrombocytosis induced by the thrombopoietin (THPO) receptor MPL P106L mutant remain unknown...