Literature DB >> 36112213

Identification of GFI1 mutations in adult patients with congenital neutropenia.

Erasmia Boutakoglou1,2, Maksim Klimiankou3, Grigorios Tsaknakis1,2, Elias Drakos4, Julia Skokowa3, Helen A Papadaki5,6.   

Abstract

Entities:  

Year:  2022        PMID： 36112213     DOI： 10.1007/s00277-022-04977-7

Source DB:  PubMed          Journal:  Ann Hematol        ISSN： 0939-5555            Impact factor:   4.030


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  9 in total

1.  Intrinsic requirement for zinc finger transcription factor Gfi-1 in neutrophil differentiation.

Authors:  Hanno Hock; Melanie J Hamblen; Heather M Rooke; David Traver; Roderick T Bronson; Scott Cameron; Stuart H Orkin
Journal:  Immunity       Date:  2003-01       Impact factor: 31.745

2.  Registries for study of nonmalignant hematological diseases: the example of the Severe Chronic Neutropenia International Registry.

Authors:  David C Dale; Audrey Anna Bolyard; Laurie A Steele; Cornelia Zeidler; Karl Welte
Journal:  Curr Opin Hematol       Date:  2020-01       Impact factor: 3.284

Review 3.  Neutropenia in the age of genetic testing: Advances and challenges.

Authors:  Elissa Furutani; Peter E Newburger; Akiko Shimamura
Journal:  Am J Hematol       Date:  2019-01-08       Impact factor: 10.047

Review 4.  Severe congenital neutropenias.

Authors:  Julia Skokowa; David C Dale; Ivo P Touw; Cornelia Zeidler; Karl Welte
Journal:  Nat Rev Dis Primers       Date:  2017-06-08       Impact factor: 52.329

Review 5.  How we diagnose neutropenia in the adult and elderly patient.

Authors:  Jan Palmblad; Carlo Dufour; Helen A Papadaki
Journal:  Haematologica       Date:  2014-07       Impact factor: 9.941

6.  Cyclic neutropenia associated with T cell immunity to granulocyte proteases and a double de novo mutation in GFI1, a transcriptional regulator of ELANE.

Authors:  Paul M Armistead; Eric Wieder; Olanike Akande; Gheath Alatrash; Kathryn Quintanilla; Shoudan Liang; Jeffrey Molldrem
Journal:  Br J Haematol       Date:  2010-09       Impact factor: 6.998

7.  Inflammatory reactions and severe neutropenia in mice lacking the transcriptional repressor Gfi1.

Authors:  Holger Karsunky; Hui Zeng; Thorsten Schmidt; Branko Zevnik; Reinhart Kluge; Kurt Werner Schmid; Ulrich Dührsen; Tarik Möröy
Journal:  Nat Genet       Date:  2002-01-28       Impact factor: 38.330

8.  Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.

Authors:  Jun Xia; Audrey A Bolyard; Elin Rodger; Steve Stein; Andrew A Aprikyan; David C Dale; Daniel C Link
Journal:  Br J Haematol       Date:  2009-09-22       Impact factor: 6.998

9.  Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss.

Authors:  Parvathy Venugopal; Lucia Gagliardi; Cecily Forsyth; Jinghua Feng; Kerry Phillips; Milena Babic; Nicola K Poplawski; Hugh Young Rienhoff; Andreas W Schreiber; Christopher N Hahn; Anna L Brown; Hamish S Scott
Journal:  BMC Med Genet       Date:  2020-02-17       Impact factor: 2.103
  9 in total

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