Hereditary thrombocytosis: the genetic landscape

Clinical course of myeloproliferative leukaemia virus oncogene ( MPL ) mutation‐associated familial thrombocytosis: a review of 64 paediatric and adult patients

(2021) Talal Al‐Harbi et al.   BRITISH JOURNAL OF HAEMATOLOGY

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Essential thrombocytosis attributed to JAK2-T875N germline mutation

(2019) Makoto Yoshimitsu et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

Hydroxycarbamide Plus Aspirin Versus Aspirin Alone in Patients With Essential Thrombocythemia Age 40 to 59 Years Without High-Risk Features

(2018) Anna L. Godfrey et al.   JOURNAL OF CLINICAL ONCOLOGY

Identification of MPL R102P Mutation in Hereditary Thrombocytosis

(2017) Christine Bellanné-Chantelot et al.   Frontiers in Endocrinology

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

(2017) Leila N. Varghese et al.   Frontiers in Endocrinology

Genetic Alterations of the Thrombopoietin/MPL/JAK2 Axis Impacting Megakaryopoiesis

(2017) Isabelle Plo et al.   Frontiers in Endocrinology

How I treat essential thrombocythemia

(2016) E. Rumi et al.   BLOOD

Antiplatelet therapy versus observation in low-risk essential thrombocythemia with a CALR mutation

(2016) A. Alvarez-Larran et al.   HAEMATOLOGICA

The ExAC browser: displaying reference data information from over 60 000 exomes

(2016) Konrad J. Karczewski et al.   NUCLEIC ACIDS RESEARCH

Antiplatelet therapy versus observation in low-risk essential thrombocythemia with a CALR mutation

(2016) A. Alvarez-Larran et al.   HAEMATOLOGICA

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Hereditary erythrocytosis, thrombocytosis and neutrophilia

(2014) Wan-Jen Hong et al.   BEST PRACTICE & RESEARCH CLINICAL HAEMATOLOGY

The molecular regulation of Janus kinase (JAK) activation

(2014) Jeffrey J. Babon et al.   BIOCHEMICAL JOURNAL

A novel activating, germline JAK2 mutation, JAK2R564Q, causes familial essential thrombocytosis

(2014) S. L. Etheridge et al.   BLOOD

JAK2V617F homozygosity drives a phenotypic switch in myeloproliferative neoplasms, but is insufficient to sustain disease

(2014) J. Li et al.   BLOOD

Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors

(2014) C. Marty et al.   BLOOD

A novel germlineJAK2mutation in familial myeloproliferative neoplasms

(2013) Elisa Rumi et al.   AMERICAN JOURNAL OF HEMATOLOGY

Impact of isolated germline JAK2V617I mutation on human hematopoiesis

(2013) A. J. Mead et al.   BLOOD

Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases

(2013) Celeste Bento et al.   HUMAN MUTATION

The biology of thrombopoietin and thrombopoietin receptor agonists

(2013) David J. Kuter   INTERNATIONAL JOURNAL OF HEMATOLOGY

GermlineJAK2Mutation in a Family with Hereditary Thrombocytosis

(2012) Adam J. Mead et al.   NEW ENGLAND JOURNAL OF MEDICINE

A novel splice donor mutation in the thrombopoietin gene leads to exon 2 skipping in a Filipino family with hereditary thrombocythemia

(2011) B. Zhang et al.   BLOOD

Advances in understanding the pathogenesis of familial thrombocythaemia

(2011) Luciana Teofili et al.   BRITISH JOURNAL OF HAEMATOLOGY

Hereditary thrombocytosis not as innocent as thought? Development into acute leukemia and myelofibrosis

(2010) H. L. A. Posthuma et al.   BLOOD

Multifunctional roles of gelsolin in health and diseases

(2010) Guo Hua Li et al.   MEDICINAL RESEARCH REVIEWS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation

(2009) C. Graziano et al.   BLOOD

Hereditary thrombocytosis caused by MPLSer505Asn is associated with a high thrombotic risk, splenomegaly and progression to bone marrow fibrosis

(2009) L. Teofili et al.   HAEMATOLOGICA

Evidence for a founder effect of the MPL-S505N mutation in eight Italian pedigrees with hereditary thrombocythemia

(2009) K. Liu et al.   HAEMATOLOGICA

Thrombocytosis

(2009) R. C. Skoda   Hematology-American Society of Hematology Education Program

Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in theMPLgene

(2008) El-Harith Abdelghaffar El-Harith et al.   BRITISH JOURNAL OF HAEMATOLOGY

A de novo splice donor mutation in the thrombopoietin gene causes hereditary thrombocythemia in a Polish family

(2008) K. Liu et al.   HAEMATOLOGICA