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Literature DB >> 26022708

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

Xinan Wang¹, Hideki Muramatsu¹, Yusuke Okuno¹, Hirotoshi Sakaguchi¹, Kenichi Yoshida², Nozomu Kawashima¹, Yinyan Xu¹, Yuichi Shiraishi³, Kenichi Chiba³, Hiroko Tanaka³, Shoji Saito⁴, Yozo Nakazawa⁴, Taro Masunari⁵, Tadashi Hirose⁶, Shaimaa Elmahdi¹, Atsushi Narita¹, Sayoko Doisaki¹, Olfat Ismael¹, Hideki Makishima⁷, Asahito Hama¹, Satoru Miyano⁸, Yoshiyuki Takahashi¹, Seishi Ogawa², Seiji Kojima⁹.

Abstract

Entities: Disease Gene

Keywords: GATA2; SETBP1; acute myeloid leukemia; aplastic anemia; children; familial myelodysplastic syndromes; juvenile myelomonocytic leukemia; monosomy 7

Mesh：

Substances：

Year: 2015 PMID： 26022708 PMCID： PMC4591774 DOI： 10.3324/haematol.2015.127092

Source DB: PubMed Journal: Haematologica ISSN： 0390-6078 Impact factor: 9.941

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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. Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival.

Authors: Csaba Bödör; Aline Renneville; Matthew Smith; Aurélie Charazac; Sameena Iqbal; Pascaline Etancelin; Jamie Cavenagh; Michael J Barnett; Karolina Kramarzová; Biju Krishnan; András Matolcsy; Claude Preudhomme; Jude Fitzgibbon; Carolyn Owen
Journal: Haematologica Date: 2012-01-22 Impact factor: 9.941

3. Haploinsufficiency of GATA-2 perturbs adult hematopoietic stem-cell homeostasis.

Authors: Neil P Rodrigues; Viktor Janzen; Randolf Forkert; David M Dombkowski; Ashleigh S Boyd; Stuart H Orkin; Tariq Enver; Paresh Vyas; David T Scadden
Journal: Blood Date: 2005-04-05 Impact factor: 22.113

4. GATA2 mutations are frequent in intermediate-risk karyotype AML with biallelic CEBPA mutations and are associated with favorable prognosis.

Authors: A Fasan; C Eder; C Haferlach; V Grossmann; A Kohlmann; F Dicker; W Kern; T Haferlach; S Schnittger
Journal: Leukemia Date: 2012-07-03 Impact factor: 11.528

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. 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

7. 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

8. Gain-of-function mutation of GATA-2 in acute myeloid transformation of chronic myeloid leukemia.

Authors: Su-Jiang Zhang; Li-Yuan Ma; Qiu-Hua Huang; Guo Li; Bai-Wei Gu; Xiao-Dong Gao; Jing-Yi Shi; Yue-Ying Wang; Li Gao; Xun Cai; Rui-Bao Ren; Jiang Zhu; Zhu Chen; Sai-Juan Chen
Journal: Proc Natl Acad Sci U S A Date: 2008-02-04 Impact factor: 11.205

9. 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

10. 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

25 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. GATA2 deficiency and human hematopoietic development modeled using induced pluripotent stem cells.

Authors: Moonjung Jung; Stefan Cordes; Jizhong Zou; Shiqin J Yu; Xavi Guitart; So Gun Hong; Vinh Dang; Elaine Kang; Flavia S Donaires; Sergio A Hassan; Maher Albitar; Amy P Hsu; Steven M Holland; Dennis D Hickstein; Danielle Townsley; Cynthia E Dunbar; Thomas Winkler
Journal: Blood Adv Date: 2018-12-11

3. Can somatic GATA2 mutation mimic germ line GATA2 mutation?

Authors: Mallika Sekhar; Rachael Pocock; David Lowe; Christopher Mitchell; Teresa Marafioti; Rachel Dickinson; Matthew Collin; Marc Lipman
Journal: Blood Adv Date: 2018-04-24

4. Somatic mutations in children with GATA2-associated myelodysplastic syndrome who lack other features of GATA2 deficiency.

Authors: Kevin E Fisher; Amy P Hsu; Christopher L Williams; Hadi Sayeed; Brian Y Merritt; M Tarek Elghetany; Steven M Holland; Alison A Bertuch; Maria Monica Gramatges
Journal: Blood Adv Date: 2017-02-27

Review 10. 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