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Literature DB >> 24071841

Germline PAX5 mutations and B cell leukemia.

Abstract

The transcription factor PAX5 is required for normal B cell development and is frequently mutated or deleted in B cell precursor acute lymphoblastic leukemia (B-ALL). A new study demonstrates that germline hypomorphic mutations of PAX5 are associated with susceptibility to B-ALL, implicating PAX5 in a growing list of hematopoietic transcription factors mutated in familial leukemia predisposition syndromes.

Entities: Disease Gene

Mesh：

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Year: 2013 PMID： 24071841 DOI： 10.1038/ng.2778

Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330

11 in total

Review 1. Pax5: a master regulator of B cell development and leukemogenesis.

Authors: Jasna Medvedovic; Anja Ebert; Hiromi Tagoh; Meinrad Busslinger
Journal: Adv Immunol Date: 2011 Impact factor: 3.543

2. 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

3. A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia.

Authors: Sohela Shah; Kasmintan A Schrader; Esmé Waanders; Andrew E Timms; Joseph Vijai; Cornelius Miething; John T Sandlund; Marshall S Horwitz; Charles G Mullighan; Kenneth Offit; Jeremy Wechsler; Jun Yang; James Hayes; Robert J Klein; Jinghui Zhang; Lei Wei; Gang Wu; Michael Rusch; Panduka Nagahawatte; Jing Ma; Shann-Ching Chen; Guangchun Song; Jinjun Cheng; Paul Meyers; Deepa Bhojwani; Suresh Jhanwar; Peter Maslak; Martin Fleisher; Jason Littman; Lily Offit; Rohini Rau-Murthy; Megan Harlan Fleischut; Marina Corines; Rajmohan Murali; Xiaoni Gao; Christopher Manschreck; Thomas Kitzing; Vundavalli V Murty; Susana Raimondi; Roland P Kuiper; Annet Simons; Joshua D Schiffman; Kenan Onel; Sharon E Plon; David Wheeler; Deborah Ritter; David S Ziegler; Kathy Tucker; Rosemary Sutton; Georgia Chenevix-Trench; Jun Li; David G Huntsman; Samantha Hansford; Janine Senz; Thomas Walsh; Ming Lee; Christopher N Hahn; Kathryn Roberts; Mary-Claire King; Sarah M Lo; Ross L Levine; Agnes Viale; Nicholas D Socci; Katherine L Nathanson; Hamish S Scott; Mark Daly; Steven M Lipkin; Scott W Lowe; James R Downing; David Altshuler
Journal: Nat Genet Date: 2013-09-08 Impact factor: 38.330

4. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.

Authors: W J Song; M G Sullivan; R D Legare; S Hutchings; X Tan; D Kufrin; J Ratajczak; I C Resende; C Haworth; R Hock; M Loh; C Felix; D C Roy; L Busque; D Kurnit; C Willman; A M Gewirtz; N A Speck; J H Bushweller; F P Li; K Gardiner; M Poncz; J M Maris; D G Gilliland
Journal: Nat Genet Date: 1999-10 Impact factor: 38.330

5. 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

Review 6. The regulation of the B-cell gene expression programme by Pax5.

Authors: Melissa L Holmes; Clare Pridans; Stephen L Nutt
Journal: Immunol Cell Biol Date: 2007-11-13 Impact factor: 5.126

7. Mutation of CEBPA in familial acute myeloid leukemia.

Authors: Matthew L Smith; Jamie D Cavenagh; T Andrew Lister; Jude Fitzgibbon
Journal: N Engl J Med Date: 2004-12-02 Impact factor: 91.245

Review 8. Familial myelodysplasia and acute myeloid leukaemia--a review.

Authors: Carolyn Owen; Michael Barnett; Jude Fitzgibbon
Journal: Br J Haematol Date: 2008-01 Impact factor: 6.998

9. Corecruitment of the Grg4 repressor by PU.1 is critical for Pax5-mediated repression of B-cell-specific genes.

Authors: Ylva Linderson; Dirk Eberhard; Stephen Malin; Annica Johansson; Meinrad Busslinger; Sven Pettersson
Journal: EMBO Rep Date: 2004-02-20 Impact factor: 8.807

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

5 in total

Review 1. Emerging technologies in paediatric leukaemia.

Authors: Amanda Dixon-McIver
Journal: Transl Pediatr Date: 2015-04

Review 2. Updates in the Pathology of Precursor Lymphoid Neoplasms in the Revised Fourth Edition of the WHO Classification of Tumors of Hematopoietic and Lymphoid Tissues.

Authors: Christopher Wenzinger; Eli Williams; Alejandro A Gru
Journal: Curr Hematol Malig Rep Date: 2018-08 Impact factor: 3.952