Literature DB >> 28240786

Mutations of RUNX1 in families with inherited thrombocytopenia.

Daniela De Rocco1, Federica Melazzini2, Caterina Marconi3, Alessandro Pecci2, Roberta Bottega4, Chiara Gnan1, Flavia Palombo3, Paola Giordano5, Maria Susanna Coccioli6, Ana C Glembotsky7, Paula G Heller7, Marco Seri3, Anna Savoia1,4, Patrizia Noris2.   

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Year:  2017        PMID： 28240786     DOI： 10.1002/ajh.24703

Source DB:  PubMed          Journal:  Am J Hematol        ISSN： 0361-8609            Impact factor:   10.047


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  6 in total

Review 1.  Treatments targeting MDS genetics: a fool's errand?

Authors:  Amy E DeZern
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2018-11-30

Review 2.  Hereditary thrombocytopenias: a growing list of disorders.

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

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

4.  Downregulation of TREM-like transcript-1 and collagen receptor α2 subunit, two novel RUNX1-targets, contributes to platelet dysfunction in familial platelet disorder with predisposition to acute myelogenous leukemia.

Authors:  Ana C Glembotsky; Dominika Sliwa; Dominique Bluteau; Nathalie Balayn; Cecilia P Marin Oyarzún; Anna Raimbault; Marie Bordas; Nathalie Droin; Iryna Pirozhkova; Valance Washington; Nora P Goette; Rosana F Marta; Rémi Favier; Hana Raslova; Paula G Heller
Journal:  Haematologica       Date:  2018-12-13       Impact factor: 9.941

5.  RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.

Authors:  Anna L Brown; Peer Arts; Catherine L Carmichael; Milena Babic; Julia Dobbins; Chan-Eng Chong; Andreas W Schreiber; Jinghua Feng; Kerry Phillips; Paul P S Wang; Thuong Ha; Claire C Homan; Sarah L King-Smith; Lesley Rawlings; Cassandra Vakulin; Andrew Dubowsky; Jessica Burdett; Sarah Moore; Grace McKavanagh; Denae Henry; Amanda Wells; Belinda Mercorella; Mario Nicola; Jeffrey Suttle; Ella Wilkins; Xiao-Chun Li; Joelle Michaud; Peter Brautigan; Ping Cannon; Meryl Altree; Louise Jaensch; Miriam Fine; Carolyn Butcher; Richard J D'Andrea; Ian D Lewis; Devendra K Hiwase; Elli Papaemmanuil; Marshall S Horwitz; Georges Natsoulis; Hugh Y Rienhoff; Nigel Patton; Sally Mapp; Rachel Susman; Susan Morgan; Julian Cooney; Mark Currie; Uday Popat; Tilmann Bochtler; Shai Izraeli; Kenneth Bradstock; Lucy A Godley; Alwin Krämer; Stefan Fröhling; Andrew H Wei; Cecily Forsyth; Helen Mar Fan; Nicola K Poplawski; Christopher N Hahn; Hamish S Scott
Journal:  Blood Adv       Date:  2020-03-24

6.  Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation.

Authors:  Michela Faleschini; Nicole Papa; Marie-Christine Morel-Kopp; Caterina Marconi; Tania Giangregorio; Federica Melazzini; Valeria Bozzi; Marco Seri; Patrizia Noris; Alessandro Pecci; Anna Savoia; Roberta Bottega
Journal:  Haematologica       Date:  2022-01-01       Impact factor: 9.941
  6 in total

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