Literature DB >> 22194398

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

Bing Zhang, Dana Ng, Carol Jones, Stephen T Oh, Garry P Nolan, Shiva Salehi, Wendy Wong, James L Zehnder, Jason Gotlib.   

Abstract

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Year:  2011        PMID： 22194398     DOI： 10.1182/blood-2011-10-386177

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


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  6 in total

1.  Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in thrombopoietin.

Authors:  Aaron Seo; Miri Ben-Harosh; Mehtap Sirin; Jerry Stein; Orly Dgany; Joseph Kaplelushnik; Manfred Hoenig; Ulrich Pannicke; Myriam Lorenz; Klaus Schwarz; Clemens Stockklausner; Tom Walsh; Suleyman Gulsuner; Ming K Lee; Anoop Sendamarai; Marilyn Sanchez-Bonilla; Mary-Claire King; Holger Cario; Andreas E Kulozik; Klaus-Michael Debatin; Ansgar Schulz; Hannah Tamary; Akiko Shimamura
Journal:  Blood       Date:  2017-05-30       Impact factor: 22.113

2.  Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia.

Authors:  Majed J Dasouki; Syed K Rafi; Adam J Olm-Shipman; Nathan R Wilson; Sunil Abhyankar; Brigitte Ganter; L Mike Furness; Jianwen Fang; Rodrigo T Calado; Irfan Saadi
Journal:  Blood       Date:  2013-10-01       Impact factor: 22.113

Review 3.  Thrombocytosis in children and adolescents-classification, diagnostic approach, and clinical management.

Authors:  Clemens Stockklausner; C M Duffert; H Cario; R Knöfler; W Streif; A E Kulozik
Journal:  Ann Hematol       Date:  2021-03-12       Impact factor: 3.673

4.  Expression of VEGFA-mRNA in classical and MSX2-mRNA in non-classical monocytes in patients with spondyloarthritis is associated with peripheral arthritis.

Authors:  Małgorzata Stec; Michał Seweryn; Mariusz Korkosz; Zofia Guła; Rafał Szatanek; Kazimierz Węglarczyk; Magdalena Rutkowska-Zapała; Marzena Lenart; Marcin Czepiel; Jarosław Czyż; Jarosław Baran; Anna Gruca; Kamila Wojnar-Lasoń; Paweł Wołkow; Maciej Siedlar
Journal:  Sci Rep       Date:  2021-05-06       Impact factor: 4.379

Review 5.  The thrombopoietin receptor: revisiting the master regulator of platelet production.

Authors:  Ian S Hitchcock; Maximillian Hafer; Veena Sangkhae; Julie A Tucker
Journal:  Platelets       Date:  2021-06-07       Impact factor: 3.862

6.  Thrombocythemia 1 With THPO Variant (c.13+1G>A) Diagnosed Using Targeted Exome Sequencing: First Case in Korea.

Authors:  Nani Jung; Do Hoon Kim; Jung Sook Ha; Ye Jee Shim
Journal:  Ann Lab Med       Date:  2020-07       Impact factor: 3.464
  6 in total

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