Literature DB >> 32150607

Monoallelic loss-of-function THPO variants cause heritable thrombocytopenia.

Naomi Cornish1, M Riyaad Aungraheeta2, Lucy FitzGibbon2, Kate Burley2, Dominic Alibhai3, Janine Collins4, Daniel Greene4,5,6, Kate Downes4,6, Sarah K Westbury2, Ernest Turro4,5,6,7, Andrew D Mumford2.   

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Year:  2020        PMID： 32150607      PMCID： PMC7065488          DOI： 10.1182/bloodadvances.2019001293

Source DB:  PubMed          Journal:  Blood Adv        ISSN： 2473-9529


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  24 in total

1.  Mutations of RUNX1 in families with inherited thrombocytopenia.

Authors:  Daniela De Rocco; Federica Melazzini; Caterina Marconi; Alessandro Pecci; Roberta Bottega; Chiara Gnan; Flavia Palombo; Paola Giordano; Maria Susanna Coccioli; Ana C Glembotsky; Paula G Heller; Marco Seri; Anna Savoia; Patrizia Noris
Journal:  Am J Hematol       Date:  2017-03-24       Impact factor: 10.047

2.  Hereditary thrombocythaemia in a Japanese family is caused by a novel point mutation in the thrombopoietin gene.

Authors:  N Ghilardi; A Wiestner; M Kikuchi; A Ohsaka; R C Skoda
Journal:  Br J Haematol       Date:  1999-11       Impact factor: 6.998

3.  The glycan domain of thrombopoietin enhances its secretion.

Authors:  H M Linden; K Kaushansky
Journal:  Biochemistry       Date:  2000-03-21       Impact factor: 3.162

4.  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

5.  Confirmation and further delineation of the 3q26.33-3q27.2 microdeletion syndrome.

Authors:  Majed Dasouki; Jennifer Roberts; Angela Santiago; Irfan Saadi; Karine Hovanes
Journal:  Eur J Med Genet       Date:  2014-01-22       Impact factor: 2.708

6.  The glycan domain of thrombopoietin (TPO) acts in trans to enhance secretion of the hormone and other cytokines.

Authors:  Hannah M Linden; Kenneth Kaushansky
Journal:  J Biol Chem       Date:  2002-07-05       Impact factor: 5.157

7.  Familial essential thrombocythemia associated with one-base deletion in the 5'-untranslated region of the thrombopoietin gene.

Authors:  T Kondo; M Okabe; M Sanada; M Kurosawa; S Suzuki; M Kobayashi; M Hosokawa; M Asaka
Journal:  Blood       Date:  1998-08-15       Impact factor: 22.113

8.  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

9.  A general framework for estimating the relative pathogenicity of human genetic variants.

Authors:  Martin Kircher; Daniela M Witten; Preti Jain; Brian J O'Roak; Gregory M Cooper; Jay Shendure
Journal:  Nat Genet       Date:  2014-02-02       Impact factor: 38.330

10.  Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim.

Authors:  Alessandro Pecci; Iman Ragab; Valeria Bozzi; Daniela De Rocco; Serena Barozzi; Tania Giangregorio; Heba Ali; Federica Melazzini; Mohamed Sallam; Caterina Alfano; Annalisa Pastore; Carlo L Balduini; Anna Savoia
Journal:  EMBO Mol Med       Date:  2018-01       Impact factor: 12.137
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  3 in total

Review 1.  Inherited Platelet Disorders: An Updated Overview.

Authors:  Verónica Palma-Barqueros; Nuria Revilla; Ana Sánchez; Ana Zamora Cánovas; Agustín Rodriguez-Alén; Ana Marín-Quílez; José Ramón González-Porras; Vicente Vicente; María Luisa Lozano; José María Bastida; José Rivera
Journal:  Int J Mol Sci       Date:  2021-04-26       Impact factor: 5.923

2.  Genomic legacy of migration in endangered caribou.

Authors:  Maria Cavedon; Bridgett vonHoldt; Mark Hebblewhite; Troy Hegel; Elizabeth Heppenheimer; Dave Hervieux; Stefano Mariani; Helen Schwantje; Robin Steenweg; Jessica Theoret; Megan Watters; Marco Musiani
Journal:  PLoS Genet       Date:  2022-02-10       Impact factor: 5.917

Review 3.  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
  3 in total

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