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Literature DB >> 28466964

A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene.

Patrizia Noris¹, Caterina Marconi², Daniela De Rocco³, Federica Melazzini¹, Tommaso Pippucci², Giuseppe Loffredo⁴, Tania Giangregorio³, Alessandro Pecci¹, Marco Seri², Anna Savoia^3,5.

Abstract

Entities: Disease Gene

Keywords: genetic disorders; platelet genetic diseases; platelets; thrombopoietin

Mesh：

Substances：
Thrombopoietin

Year: 2017 PMID： 28466964 DOI： 10.1111/bjh.14694

Source DB: PubMed Journal: Br J Haematol ISSN： 0007-1048 Impact factor: 6.998

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Cited

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7 in total

Review 1. Hereditary thrombocytopenias: a growing list of disorders.

Authors: Patrizia Noris; Alessandro Pecci
Journal: Hematology Am Soc Hematol Educ Program Date: 2017-12-08

Review 2. Genetics of inherited thrombocytopenias.

Authors: Julia T Warren; Jorge Di Paola
Journal: Blood Date: 2022-06-02 Impact factor: 25.476

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

Authors: Naomi Cornish; M Riyaad Aungraheeta; Lucy FitzGibbon; Kate Burley; Dominic Alibhai; Janine Collins; Daniel Greene; Kate Downes; Sarah K Westbury; Ernest Turro; Andrew D Mumford
Journal: Blood Adv Date: 2020-03-10

Review 4. 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

A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene.

Review 1. Hereditary thrombocytopenias: a growing list of disorders.

Review 2. Genetics of inherited thrombocytopenias.

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

Review 4. Inherited Platelet Disorders: An Updated Overview.

Review 5. Genetic Alterations of the Thrombopoietin/MPL/JAK2 Axis Impacting Megakaryopoiesis.

Review 6. The thrombopoietin receptor: revisiting the master regulator of platelet production.

7. Thrombopoietin: tickling the HSC's fancy.