Literature DB >> 27680514

Mutational profiling of a MonoMAC syndrome family with GATA2 deficiency.

L-W Ding1, T Ikezoe2, K-T Tan1, M Mori3, A Mayakonda1, W Chien1, D-C Lin1,4, Y-Y Jiang1, M Lill4, H Yang1, Q-Y Sun1, H P Koeffler1,4.   

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Year:  2016        PMID： 27680514      PMCID： PMC5214977          DOI： 10.1038/leu.2016.256

Source DB:  PubMed          Journal:  Leukemia        ISSN： 0887-6924            Impact factor:   11.528


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  15 in total

1.  Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature.

Authors:  Jan Kazenwadel; Genevieve A Secker; Yajuan J Liu; Jill A Rosenfeld; Robert S Wildin; Jennifer Cuellar-Rodriguez; Amy P Hsu; Sarah Dyack; Conrad V Fernandez; Chan-Eng Chong; Milena Babic; Peter G Bardy; Akiko Shimamura; Michael Y Zhang; Tom Walsh; Steven M Holland; Dennis D Hickstein; Marshall S Horwitz; Christopher N Hahn; Hamish S Scott; Natasha L Harvey
Journal:  Blood       Date:  2011-12-06       Impact factor: 22.113

2.  Mutations of the GATA2 and CEBPA genes in paediatric acute myeloid leukaemia.

Authors:  Norio Shiba; Michinori Funato; Kentaro Ohki; Myoung-Ja Park; Yasuhiro Mizushima; Souichi Adachi; Masao Kobayashi; Akitoshi Kinoshita; Manabu Sotomatsu; Hirokazu Arakawa; Akio Tawa; Keizo Horibe; Ichiro Tsukimoto; Yasuhide Hayashi
Journal:  Br J Haematol       Date:  2013-09-14       Impact factor: 6.998

Review 3.  The role of the GATA2 transcription factor in normal and malignant hematopoiesis.

Authors:  Carmen Vicente; Ana Conchillo; María A García-Sánchez; María D Odero
Journal:  Crit Rev Oncol Hematol       Date:  2011-05-24       Impact factor: 6.312

4.  GATA2 and secondary mutations in familial myelodysplastic syndromes and pediatric myeloid malignancies.

Authors:  Xinan Wang; Hideki Muramatsu; Yusuke Okuno; Hirotoshi Sakaguchi; Kenichi Yoshida; Nozomu Kawashima; Yinyan Xu; Yuichi Shiraishi; Kenichi Chiba; Hiroko Tanaka; Shoji Saito; Yozo Nakazawa; Taro Masunari; Tadashi Hirose; Shaimaa Elmahdi; Atsushi Narita; Sayoko Doisaki; Olfat Ismael; Hideki Makishima; Asahito Hama; Satoru Miyano; Yoshiyuki Takahashi; Seishi Ogawa; Seiji Kojima
Journal:  Haematologica       Date:  2015-05-28       Impact factor: 9.941

5.  Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

Authors:  Amy P Hsu; Elizabeth P Sampaio; Javed Khan; Katherine R Calvo; Jacob E Lemieux; Smita Y Patel; David M Frucht; Donald C Vinh; Roger D Auth; Alexandra F Freeman; Kenneth N Olivier; Gulbu Uzel; Christa S Zerbe; Christine Spalding; Stefania Pittaluga; Mark Raffeld; Douglas B Kuhns; Li Ding; Michelle L Paulson; Beatriz E Marciano; Juan C Gea-Banacloche; Jordan S Orange; Jennifer Cuellar-Rodriguez; Dennis D Hickstein; Steven M Holland
Journal:  Blood       Date:  2011-06-13       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.  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

8.  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 9.  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

10.  The evolution of cellular deficiency in GATA2 mutation.

Authors:  Rachel E Dickinson; Paul Milne; Laura Jardine; Sasan Zandi; Sabina I Swierczek; Naomi McGovern; Sharon Cookson; Zaveyna Ferozepurwalla; Alexander Langridge; Sarah Pagan; Andrew Gennery; Tarja Heiskanen-Kosma; Sari Hämäläinen; Mikko Seppänen; Matthew Helbert; Eleni Tholouli; Eleonora Gambineri; Sigrún Reykdal; Magnús Gottfreðsson; James E Thaventhiran; Emma Morris; Gideon Hirschfield; Alex G Richter; Stephen Jolles; Chris M Bacon; Sophie Hambleton; Muzlifah Haniffa; Yenan Bryceson; Carl Allen; Josef T Prchal; John E Dick; Venetia Bigley; Matthew Collin
Journal:  Blood       Date:  2013-12-17       Impact factor: 22.113
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  14 in total

1.  MDS-associated mutations in germline GATA2 mutated patients with hematologic manifestations.

Authors:  Lisa J McReynolds; Yanqin Yang; Hong Yuen Wong; Jingrong Tang; Yubo Zhang; Matthew P Mulé; Janine Daub; Cindy Palmer; Ladan Foruraghi; Qingguo Liu; Jun Zhu; Weixin Wang; Robert R West; Marielle E Yohe; Amy P Hsu; Dennis D Hickstein; Danielle M Townsley; Steven M Holland; Katherine R Calvo; Christopher S Hourigan
Journal:  Leuk Res       Date:  2018-12-04       Impact factor: 3.156

2.  Familial Acute Myeloid Leukemia and Myelodysplasia in Hungary.

Authors:  Attila Péter Király; Krisztián Kállay; Ambrus Gángó; Ádám Kellner; Miklós Egyed; Anita Szőke; Richárd Kiss; István Vályi-Nagy; Judit Csomor; András Matolcsy; Csaba Bödör
Journal:  Pathol Oncol Res       Date:  2017-03-29       Impact factor: 3.201

Review 3.  Heterogeneity of GATA2-related myeloid neoplasms.

Authors:  Shinsuke Hirabayashi; Marcin W Wlodarski; Emilia Kozyra; Charlotte M Niemeyer
Journal:  Int J Hematol       Date:  2017-06-22       Impact factor: 2.490

Review 4.  Germline GATA2 Mutation and Bone Marrow Failure.

Authors:  Lisa J McReynolds; Katherine R Calvo; Steven M Holland
Journal:  Hematol Oncol Clin North Am       Date:  2018-05-28       Impact factor: 3.722

Review 5.  Significance of Clonal Mutations in Bone Marrow Failure and Inherited Myelodysplastic Syndrome/Acute Myeloid Leukemia Predisposition Syndromes.

Authors:  Eva J Schaefer; R Coleman Lindsley
Journal:  Hematol Oncol Clin North Am       Date:  2018-05-01       Impact factor: 3.722

Review 6.  Genetic Predisposition to Myelodysplastic Syndrome in Clinical Practice.

Authors:  Kristen E Schratz; Amy E DeZern
Journal:  Hematol Oncol Clin North Am       Date:  2020-01-06       Impact factor: 3.722

7.  Differential effects on gene transcription and hematopoietic differentiation correlate with GATA2 mutant disease phenotypes.

Authors:  C-E Chong; P Venugopal; P H Stokes; Y K Lee; P J Brautigan; D T O Yeung; M Babic; G A Engler; S W Lane; M Klingler-Hoffmann; J M Matthews; R J D'Andrea; A L Brown; C N Hahn; H S Scott
Journal:  Leukemia       Date:  2017-06-23       Impact factor: 11.528

Review 8.  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 9.  Cohesin mutations in myeloid malignancies.

Authors:  Johann-Christoph Jann; Zuzana Tothova
Journal:  Blood       Date:  2021-08-26       Impact factor: 25.476

10.  Acute myeloid leukemia with 3q26 abnormality: An editorial perspective.

Authors:  K Ghosh
Journal:  J Postgrad Med       Date:  2018 Apr-Jun       Impact factor: 1.476
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