Literature DB >> 30030275

A novel disease-causing synonymous exonic mutation in GATA2 affecting RNA splicing.

Claudia Wehr1,2, Katja Grotius1, Silvia Casadei3,4, Dorothee Bleckmann1, Sebastian F N Bode1,5, Björn C Frye6, Maximilian Seidl1,7, Suleyman Gulsuner3,4, Mary-Claire King3,4, Mary-Beth Percival8, Colin C Pritchard9, Tom Walsh3,4, David Wu9, Siobán Keel8, Ulrich Salzer1,10.   

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Year:  2018        PMID： 30030275      PMCID： PMC6137559          DOI： 10.1182/blood-2018-03-837336

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


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  21 in total

Review 1.  GATA-binding transcription factors in hematopoietic cells.

Authors:  S H Orkin
Journal:  Blood       Date:  1992-08-01       Impact factor: 22.113

2.  Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity.

Authors:  Michael Y Zhang; Siobán B Keel; Tom Walsh; Ming K Lee; Suleyman Gulsuner; Amanda C Watts; Colin C Pritchard; Stephen J Salipante; Michael R Jeng; Inga Hofmann; David A Williams; Mark D Fleming; Janis L Abkowitz; Mary-Claire King; Akiko Shimamura
Journal:  Haematologica       Date:  2014-09-19       Impact factor: 9.941

3.  Adaptive NK cells can persist in patients with GATA2 mutation depleted of stem and progenitor cells.

Authors:  Heinrich Schlums; Moonjung Jung; Hongya Han; Jakob Theorell; Venetia Bigley; Samuel C C Chiang; David S J Allan; Jan K Davidson-Moncada; Rachel E Dickinson; Tim D Holmes; Amy P Hsu; Danielle Townsley; Thomas Winkler; Weixin Wang; Pål Aukrust; Ingvild Nordøy; Katherine R Calvo; Steve M Holland; Matthew Collin; Cynthia E Dunbar; Yenan T Bryceson
Journal:  Blood       Date:  2017-02-16       Impact factor: 22.113

4.  Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).

Authors:  Pia Ostergaard; Michael A Simpson; Fiona C Connell; Colin G Steward; Glen Brice; Wesley J Woollard; Dimitra Dafou; Tatjana Kilo; Sarah Smithson; Peter Lunt; Victoria A Murday; Shirley Hodgson; Russell Keenan; Daniela T Pilz; Ines Martinez-Corral; Taija Makinen; Peter S Mortimer; Steve Jeffery; Richard C Trembath; Sahar Mansour
Journal:  Nat Genet       Date:  2011-09-04       Impact factor: 38.330

5.  GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome.

Authors:  Amy P Hsu; Kirby D Johnson; E Liana Falcone; Rajendran Sanalkumar; Lauren Sanchez; Dennis D Hickstein; Jennifer Cuellar-Rodriguez; Jacob E Lemieux; Christa S Zerbe; Emery H Bresnick; Steven M Holland
Journal:  Blood       Date:  2013-03-15       Impact factor: 22.113

6.  Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia.

Authors:  Donald C Vinh; Smita Y Patel; Gulbu Uzel; Victoria L Anderson; Alexandra F Freeman; Kenneth N Olivier; Christine Spalding; Stephen Hughes; Stefania Pittaluga; Mark Raffeld; Lynn R Sorbara; Houda Z Elloumi; Douglas B Kuhns; Maria L Turner; Edward W Cowen; Danielle Fink; Debra Long-Priel; Amy P Hsu; Li Ding; Michelle L Paulson; Adeline R Whitney; Elizabeth P Sampaio; David M Frucht; Frank R DeLeo; Steven M Holland
Journal:  Blood       Date:  2009-12-29       Impact factor: 22.113

7.  An early haematopoietic defect in mice lacking the transcription factor GATA-2.

Authors:  F Y Tsai; G Keller; F C Kuo; M Weiss; J Chen; M Rosenblatt; F W Alt; S H Orkin
Journal:  Nature       Date:  1994-09-15       Impact factor: 49.962

8.  Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.

Authors:  Rachel Emma Dickinson; Helen Griffin; Venetia Bigley; Louise N Reynard; Rafiqul Hussain; Muzlifah Haniffa; Jeremy H Lakey; Thahira Rahman; Xiao-Nong Wang; Naomi McGovern; Sarah Pagan; Sharon Cookson; David McDonald; Ignatius Chua; Jonathan Wallis; Andrew Cant; Michael Wright; Bernard Keavney; Patrick F Chinnery; John Loughlin; Sophie Hambleton; Mauro Santibanez-Koref; Matthew Collin
Journal:  Blood       Date:  2011-07-15       Impact factor: 22.113

9.  Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.

Authors:  Christopher N Hahn; Chan-Eng Chong; Catherine L Carmichael; Ella J Wilkins; Peter J Brautigan; Xiao-Chun Li; Milena Babic; Ming Lin; Amandine Carmagnac; Young K Lee; Chung H Kok; Lucia Gagliardi; Kathryn L Friend; Paul G Ekert; Carolyn M Butcher; Anna L Brown; Ian D Lewis; L Bik To; Andrew E Timms; Jan Storek; Sarah Moore; Meryl Altree; Robert Escher; Peter G Bardy; Graeme K Suthers; Richard J D'Andrea; Marshall S Horwitz; Hamish S Scott
Journal:  Nat Genet       Date:  2011-09-04       Impact factor: 38.330

Review 10.  Haematopoietic and immune defects associated with GATA2 mutation.

Authors:  Matthew Collin; Rachel Dickinson; Venetia Bigley
Journal:  Br J Haematol       Date:  2015-02-23       Impact factor: 6.998
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  10 in total

Review 1.  Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA).

Authors:  Anna L Brown; Christopher N Hahn; Hamish S Scott
Journal:  Blood       Date:  2020-07-02       Impact factor: 22.113

2.  Association of unbalanced translocation der(1;7) with germline GATA2 mutations.

Authors:  Emilia J Kozyra; Gudrun Göhring; Dennis D Hickstein; Katherine R Calvo; Courtney D DiNardo; Michael Dworzak; Valerie de Haas; Jan Starý; Henrik Hasle; Akiko Shimamura; Mark D Fleming; Hiroto Inaba; Sara Lewis; Amy P Hsu; Steven M Holland; Danielle E Arnold; Cristina Mecucci; Siobán B Keel; Alison A Bertuch; Kiran Tawana; Shlomit Barzilai; Shinsuke Hirabayashi; Masahiro Onozawa; Shaohua Lei; Helena Alaiz; Hajnalka Andrikovics; David Betts; Berna H Beverloo; Jochen Buechner; Martin Čermák; José Cervera; Olga Haus; Kirsi Jahnukainen; Kalliopi N Manola; Karin Nebral; Francesco Pasquali; Joelle Tchinda; Dominik Turkiewicz; Nadine Van Roy; Zuzana Zemanova; Victor B Pastor; Brigitte Strahm; Peter Noellke; Charlotte M Niemeyer; Brigitte Schlegelberger; Ayami Yoshimi; Marcin W Wlodarski
Journal:  Blood       Date:  2021-12-09       Impact factor: 22.113

Review 3.  Advances in germline predisposition to acute leukaemias and myeloid neoplasms.

Authors:  Jeffery M Klco; Charles G Mullighan
Journal:  Nat Rev Cancer       Date:  2020-12-16       Impact factor: 60.716

Review 4.  Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes.

Authors:  Sushree S Sahoo; Emilia J Kozyra; Marcin W Wlodarski
Journal:  Best Pract Res Clin Haematol       Date:  2020-07-29       Impact factor: 3.020

Review 5.  How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline predisposition to myeloid malignancies.

Authors:  David Wu; Xi Luo; Simone Feurstein; Chimene Kesserwan; Shruthi Mohan; Daniel E Pineda-Alvarez; Lucy A Godley
Journal:  Haematologica       Date:  2020-03-12       Impact factor: 9.941

6.  Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency.

Authors:  Emilia J Kozyra; Victor B Pastor; Stylianos Lefkopoulos; Sushree S Sahoo; Hauke Busch; Rebecca K Voss; Miriam Erlacher; Dirk Lebrecht; Enikoe A Szvetnik; Shinsuke Hirabayashi; Ramunė Pasaulienė; Lucia Pedace; Marco Tartaglia; Christian Klemann; Patrick Metzger; Melanie Boerries; Albert Catala; Henrik Hasle; Valerie de Haas; Krisztián Kállay; Riccardo Masetti; Barbara De Moerloose; Michael Dworzak; Markus Schmugge; Owen Smith; Jan Starý; Ester Mejstrikova; Marek Ussowicz; Emma Morris; Preeti Singh; Matthew Collin; Marta Derecka; Gudrun Göhring; Christian Flotho; Brigitte Strahm; Franco Locatelli; Charlotte M Niemeyer; Eirini Trompouki; Marcin W Wlodarski
Journal:  Leukemia       Date:  2020-06-18       Impact factor: 11.528

7.  Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes.

Authors:  Piers Blombery; Lucy Fox; Georgina L Ryland; Ella R Thompson; Jennifer Lickiss; Michelle McBean; Satwica Yerneni; David Hughes; Anthea Greenway; Francoise Mechinaud; Erica M Wood; Graham J Lieschke; Jeff Szer; Pasquale Barbaro; John Roy; Joel Wight; Elly Lynch; Melissa Martyn; Clara Gaff; David Ritchie
Journal:  Haematologica       Date:  2021-01-01       Impact factor: 9.941

8.  When a Synonymous Variant Is Nonsynonymous.

Authors:  Mauno Vihinen
Journal:  Genes (Basel)       Date:  2022-08-19       Impact factor: 4.141

9.  The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.

Authors:  Ana Rio-Machin; Tom Vulliamy; Nele Hug; Amanda Walne; Kiran Tawana; Shirleny Cardoso; Alicia Ellison; Nikolas Pontikos; Jun Wang; Hemanth Tummala; Ahad Fahad H Al Seraihi; Jenna Alnajar; Findlay Bewicke-Copley; Hannah Armes; Michael Barnett; Adrian Bloor; Csaba Bödör; David Bowen; Pierre Fenaux; Andrew Green; Andrew Hallahan; Henrik Hjorth-Hansen; Upal Hossain; Sally Killick; Sarah Lawson; Mark Layton; Alison M Male; Judith Marsh; Priyanka Mehta; Rogier Mous; Josep F Nomdedéu; Carolyn Owen; Jiri Pavlu; Elspeth M Payne; Rachel E Protheroe; Claude Preudhomme; Nuria Pujol-Moix; Aline Renneville; Nigel Russell; Anand Saggar; Gabriela Sciuccati; David Taussig; Cynthia L Toze; Anne Uyttebroeck; Peter Vandenberghe; Brigitte Schlegelberger; Tim Ripperger; Doris Steinemann; John Wu; Joanne Mason; Paula Page; Susanna Akiki; Kim Reay; Jamie D Cavenagh; Vincent Plagnol; Javier F Caceres; Jude Fitzgibbon; Inderjeet Dokal
Journal:  Nat Commun       Date:  2020-02-25       Impact factor: 14.919

10.  GATA2 deficiency syndrome: A decade of discovery.

Authors:  Claire C Homan; Parvathy Venugopal; Peer Arts; Nur H Shahrin; Simone Feurstein; Lesley Rawlings; David M Lawrence; James Andrews; Sarah L King-Smith; Natasha L Harvey; Anna L Brown; Hamish S Scott; Christopher N Hahn
Journal:  Hum Mutat       Date:  2021-08-31       Impact factor: 4.700
  10 in total

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