Literature DB >> 23812944

Infrequent occurrence of mutations in the PH domain of LNK in patients with JAK2 mutation-negative 'idiopathic' erythrocytosis.

Ambra Spolverini, Lisa Pieri, Paola Guglielmelli, Alessandro Pancrazzi, Tiziana Fanelli, Chiara Paoli, Alberto Bosi, Ilaria Nichele, Marco Ruggeri, Alessandro M Vannucchi.   

Abstract

Entities:  

Keywords:  Epo levels; PH domain; mutations

Mesh：

Substances：

Year:  2013        PMID： 23812944      PMCID： PMC3762108          DOI： 10.3324/haematol.2013.090175

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  10 in total

1.  Lnk constrains myeloproliferative diseases in mice.

Authors:  Alexey Bersenev; Chao Wu; Joanna Balcerek; Jiang Jing; Mondira Kundu; Gerd A Blobel; Kudakwashe R Chikwava; Wei Tong
Journal:  J Clin Invest       Date:  2010-05-10       Impact factor: 14.808

2.  LNK mutations in JAK2 mutation-negative erythrocytosis.

Authors:  Terra L Lasho; Animesh Pardanani; Ayalew Tefferi
Journal:  N Engl J Med       Date:  2010-09-16       Impact factor: 91.245

3.  LNK mutation studies in blast-phase myeloproliferative neoplasms, and in chronic-phase disease with TET2, IDH, JAK2 or MPL mutations.

Authors:  A Pardanani; T Lasho; C Finke; S T Oh; J Gotlib; A Tefferi
Journal:  Leukemia       Date:  2010-08-19       Impact factor: 11.528

4.  LNK can also be mutated outside PH and SH2 domains in myeloproliferative neoplasms with and without V617FJAK2 mutation.

Authors:  C Hurtado; I Erquiaga; P Aranaz; I Miguéliz; M García-Delgado; F J Novo; J L Vizmanos
Journal:  Leuk Res       Date:  2011-07-26       Impact factor: 3.156

5.  Possible new LNK mutations in myeloproliferative neoplasms.

Authors:  Jung-Sook Ha; Dong-Seok Jeon
Journal:  Am J Hematol       Date:  2011-08-22       Impact factor: 10.047

6.  Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms.

Authors:  Stephen T Oh; Erin F Simonds; Carol Jones; Matthew B Hale; Yury Goltsev; Kenneth D Gibbs; Jason D Merker; James L Zehnder; Garry P Nolan; Jason Gotlib
Journal:  Blood       Date:  2010-04-19       Impact factor: 22.113

7.  A nonsynonymous LNK polymorphism associated with idiopathic erythrocytosis.

Authors:  Mary Frances McMullin; Chao Wu; Melanie J Percy; Wei Tong
Journal:  Am J Hematol       Date:  2011-08-22       Impact factor: 10.047

Review 8.  Idiopathic erythrocytosis: a disappearing entity.

Authors:  Mary Frances McMullin
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2009

9.  Proposals and rationale for revision of the World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis: recommendations from an ad hoc international expert panel.

Authors:  Ayalew Tefferi; Juergen Thiele; Attilio Orazi; Hans Michael Kvasnicka; Tiziano Barbui; Curtis A Hanson; Giovanni Barosi; Srdan Verstovsek; Gunnar Birgegard; Ruben Mesa; John T Reilly; Heinz Gisslinger; Alessandro M Vannucchi; Francisco Cervantes; Guido Finazzi; Ronald Hoffman; D Gary Gilliland; Clara D Bloomfield; James W Vardiman
Journal:  Blood       Date:  2007-05-08       Impact factor: 22.113

10.  Cytokine signaling and hematopoietic homeostasis are disrupted in Lnk-deficient mice.

Authors:  Laura Velazquez; Alec M Cheng; Heather E Fleming; Caren Furlonger; Shirly Vesely; Alan Bernstein; Christopher J Paige; Tony Pawson
Journal:  J Exp Med       Date:  2002-06-17       Impact factor: 14.307
  10 in total
  10 in total

Review 1.  Historical views, conventional approaches, and evolving management strategies for myeloproliferative neoplasms.

Authors:  Brady L Stein; Jason Gotlib; Murat Arcasoy; Marie Huong Nguyen; Neil Shah; Alison Moliterno; Catriona Jamieson; Daniel A Pollyea; Bart Scott; Martha Wadleigh; Ross Levine; Rami Komrokji; Rebecca Klisovic; Krishna Gundabolu; Patricia Kropf; Meir Wetzler; Stephen T Oh; Raul Ribeiro; Rita Paschal; Sanjay Mohan; Nikolai Podoltsev; Josef Prchal; Moshe Talpaz; David Snyder; Srdan Verstovsek; Ruben A Mesa
Journal:  J Natl Compr Canc Netw       Date:  2015-04       Impact factor: 11.908

Review 2.  The role of LNK/SH2B3 genetic alterations in myeloproliferative neoplasms and other hematological disorders.

Authors:  N Maslah; B Cassinat; E Verger; J-J Kiladjian; L Velazquez
Journal:  Leukemia       Date:  2017-05-09       Impact factor: 11.528

Review 3.  Molecular Pathways Involved in the Development of Congenital Erythrocytosis.

Authors:  Jana Tomc; Nataša Debeljak
Journal:  Genes (Basel)       Date:  2021-07-28       Impact factor: 4.096

4.  Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.

Authors:  Carme Camps; Nayia Petousi; Celeste Bento; Holger Cario; Richard R Copley; Mary Frances McMullin; Richard van Wijk; Peter J Ratcliffe; Peter A Robbins; Jenny C Taylor
Journal:  Haematologica       Date:  2016-09-20       Impact factor: 9.941

5.  Targeted Application of Human Genetic Variation Can Improve Red Blood Cell Production from Stem Cells.

Authors:  Felix C Giani; Claudia Fiorini; Aoi Wakabayashi; Leif S Ludwig; Rany M Salem; Chintan D Jobaliya; Stephanie N Regan; Jacob C Ulirsch; Ge Liang; Orna Steinberg-Shemer; Michael H Guo; Tõnu Esko; Wei Tong; Carlo Brugnara; Joel N Hirschhorn; Mitchell J Weiss; Leonard I Zon; Stella T Chou; Deborah L French; Kiran Musunuru; Vijay G Sankaran
Journal:  Cell Stem Cell       Date:  2015-10-22       Impact factor: 24.633

Review 6.  Erythrocytosis: genes and pathways involved in disease development.

Authors:  Jernej Gašperšič; Aleša Kristan; Tanja Kunej; Irena Preložnik Zupan; Nataša Debeljak
Journal:  Blood Transfus       Date:  2020-12-16       Impact factor: 3.443

Review 7.  Genetic Alterations of the Thrombopoietin/MPL/JAK2 Axis Impacting Megakaryopoiesis.

Authors:  Isabelle Plo; Christine Bellanné-Chantelot; Matthieu Mosca; Stefania Mazzi; Caroline Marty; William Vainchenker
Journal:  Front Endocrinol (Lausanne)       Date:  2017-09-12       Impact factor: 5.555

Review 8.  JAK2 unmutated erythrocytosis: current diagnostic approach and therapeutic views.

Authors:  Naseema Gangat; Natasha Szuber; Animesh Pardanani; Ayalew Tefferi
Journal:  Leukemia       Date:  2021-05-21       Impact factor: 11.528

9.  Identification of Variants Associated With Rare Hematological Disorder Erythrocytosis Using Targeted Next-Generation Sequencing Analysis.

Authors:  Aleša Kristan; Tadej Pajič; Aleš Maver; Tadeja Režen; Tanja Kunej; Rok Količ; Andrej Vuga; Martina Fink; Špela Žula; Helena Podgornik; Saša Anžej Doma; Irena Preložnik Zupan; Damjana Rozman; Nataša Debeljak
Journal:  Front Genet       Date:  2021-07-19       Impact factor: 4.599

Review 10.  The Role of LNK (SH2B3) in the Regulation of JAK-STAT Signalling in Haematopoiesis.

Authors:  Rhiannon Morris; Liesl Butler; Andrew Perkins; Nadia J Kershaw; Jeffrey J Babon
Journal:  Pharmaceuticals (Basel)       Date:  2021-12-24
  10 in total

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