Unconventional protein secretion–new insights into the pathogenesis and therapeutic targets of human diseases

J Kim, HY Gee, MG Lee - Journal of cell science, 2018 - journals.biologists.com
Most secretory proteins travel through a well-documented conventional secretion pathway
involving the endoplasmic reticulum (ER) and the Golgi complex. However, recently, it has …

Essential thrombocythemia

JB Brière - Orphanet journal of rare diseases, 2007 - Springer
Essential thrombocythemia (ET) is an acquired myeloproliferative disorder (MPD)
characterized by a sustained elevation of platelet number with a tendency for thrombosis …

A Gain-of-Function Mutation of JAK2 in Myeloproliferative Disorders

R Kralovics, F Passamonti, AS Buser… - … England Journal of …, 2005 - Mass Medical Soc
Background Polycythemia vera, essential thrombocythemia, and idiopathic myelofibrosis are
clonal myeloproliferative disorders arising from a multipotent progenitor. The loss of …

Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders

AV Jones, S Kreil, K Zoi, K Waghorn, C Curtis, L Zhang… - Blood, 2005 - ashpublications.org
The analysis of rare chromosomal translocations in myeloproliferative disorders has
highlighted the importance of aberrant tyrosine kinase signaling in the pathogenesis of …

Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study

PJ Campbell, LM Scott, G Buck, K Wheatley, CL East… - The Lancet, 2005 - thelancet.com
Summary Background An acquired V617F mutation in JAK2 occurs in most patients with
polycythaemia vera, but is seen in only half those with essential thrombocythaemia and …

Ratio of mutant JAK2-V617F to wild-type Jak2 determines the MPD phenotypes in transgenic mice

R Tiedt, H Hao-Shen, MA Sobas… - Blood, The Journal …, 2008 - ashpublications.org
An acquired somatic mutation in the JAK2 gene (JAK2-V617F) is present in the majority of
patients with myeloproliferative disorders (MPDs). Several phenotypic manifestations …

[PDF][PDF] Guidelines for the diagnosis, investigation and management of polycythaemia/erythrocytosis.

MF McMullin, D Bareford, P Campbell… - British journal of …, 2005 - academia.edu
1Department of Haematology, Queen's University, Belfast, Belfast City Hospital, Belfast,
2Department of Haematology, City Hospital, Birmingham, 3Department of Haematology …

[PDF][PDF] Role of the JAK2 mutation in the diagnosis of chronic myeloproliferative disorders in splanchnic vein thrombosis

M Primignani, G Barosi, G Bergamaschi… - …, 2006 - Wiley Online Library
The diagnosis of an underlying chronic myeloproliferative disorder (CMPD) is often
problematic in patients with primary extrahepatic portal vein obstruction (EHPVO) or Budd …

Acquisition of the V617F mutation of JAK2 is a late genetic event in a subset of patients with myeloproliferative disorders

R Kralovics, SS Teo, S Li, A Theocharides, AS Buser… - Blood, 2006 - ashpublications.org
An acquired gain-of-function mutation in the Janus kinase 2 (JAK2-V617F) is frequently
found in patients with myeloproliferative disorders (MPDs). To test the hypothesis that JAK2 …

Clonal analysis of TET2 and JAK2 mutations suggests that TET2 can be a late event in the progression of myeloproliferative neoplasms

FX Schaub, R Looser, S Li, H Hao-Shen… - Blood, The Journal …, 2010 - ashpublications.org
Somatic mutations in TET2 occur in patients with myeloproliferative neoplasms and other
hematologic malignancies. It has been suggested that TET2 is a tumor suppressor gene and …