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Literature DB >> 26944477

Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid leukemia.

Ruijuan Li¹, Nara Sobreira², P Dane Witmer³, Keith W Pratz⁴, Evan M Braunstein⁵.

Abstract

Entities: Disease Gene Mutation

Keywords: AML; DDX41; MDS; inherited; novel mutation

Mesh：

Substances：

Year: 2016 PMID： 26944477 PMCID： PMC5013967 DOI： 10.3324/haematol.2015.139790

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

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13 in total

1. SIFT: Predicting amino acid changes that affect protein function.

Authors: Pauline C Ng; Steven Henikoff
Journal: Nucleic Acids Res Date: 2003-07-01 Impact factor: 16.971

2. Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.

Authors: Michael Y Zhang; Jane E Churpek; Siobán B Keel; Tom Walsh; Ming K Lee; Keith R Loeb; Suleyman Gulsuner; Colin C Pritchard; Marilyn Sanchez-Bonilla; Jeffrey J Delrow; Ryan S Basom; Melissa Forouhar; Boglarka Gyurkocza; Bradford S Schwartz; Barbara Neistadt; Rafael Marquez; Christopher J Mariani; Scott A Coats; Inga Hofmann; R Coleman Lindsley; David A Williams; Janis L Abkowitz; Marshall S Horwitz; Mary-Claire King; Lucy A Godley; Akiko Shimamura
Journal: Nat Genet Date: 2015-01-12 Impact factor: 38.330

3. 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

4. Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.

Authors: Maya Lewinsohn; Anna L Brown; Luke M Weinel; Connie Phung; George Rafidi; Ming K Lee; Andreas W Schreiber; Jinghua Feng; Milena Babic; Chan-Eng Chong; Young Lee; Agnes Yong; Graeme K Suthers; Nicola Poplawski; Meryl Altree; Kerry Phillips; Louise Jaensch; Miriam Fine; Richard J D'Andrea; Ian D Lewis; Bruno C Medeiros; Daniel A Pollyea; Mary-Claire King; Tom Walsh; Siobán Keel; Akiko Shimamura; Lucy A Godley; Christopher N Hahn; Jane E Churpek; Hamish S Scott
Journal: Blood Date: 2015-12-28 Impact factor: 22.113

5. 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

6. Comparative structural analysis of human DEAD-box RNA helicases.

Authors: Patrick Schütz; Tobias Karlberg; Susanne van den Berg; Ruairi Collins; Lari Lehtiö; Martin Högbom; Lovisa Holmberg-Schiavone; Wolfram Tempel; Hee-Won Park; Martin Hammarström; Martin Moche; Ann-Gerd Thorsell; Herwig Schüler
Journal: PLoS One Date: 2010-09-30 Impact factor: 3.240

7. Predicting functional effect of human missense mutations using PolyPhen-2.

Authors: Ivan Adzhubei; Daniel M Jordan; Shamil R Sunyaev
Journal: Curr Protoc Hum Genet Date: 2013-01

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

9. COSMIC: exploring the world's knowledge of somatic mutations in human cancer.

Authors: Simon A Forbes; David Beare; Prasad Gunasekaran; Kenric Leung; Nidhi Bindal; Harry Boutselakis; Minjie Ding; Sally Bamford; Charlotte Cole; Sari Ward; Chai Yin Kok; Mingming Jia; Tisham De; Jon W Teague; Michael R Stratton; Ultan McDermott; Peter J Campbell
Journal: Nucleic Acids Res Date: 2014-10-29 Impact factor: 16.971

10. Analysis of protein-coding genetic variation in 60,706 humans.

Authors: Monkol Lek; Konrad J Karczewski; Eric V Minikel; Kaitlin E Samocha; Eric Banks; Timothy Fennell; Anne H O'Donnell-Luria; James S Ware; Andrew J Hill; Beryl B Cummings; Taru Tukiainen; Daniel P Birnbaum; Jack A Kosmicki; Laramie E Duncan; Karol Estrada; Fengmei Zhao; James Zou; Emma Pierce-Hoffman; Joanne Berghout; David N Cooper; Nicole Deflaux; Mark DePristo; Ron Do; Jason Flannick; Menachem Fromer; Laura Gauthier; Jackie Goldstein; Namrata Gupta; Daniel Howrigan; Adam Kiezun; Mitja I Kurki; Ami Levy Moonshine; Pradeep Natarajan; Lorena Orozco; Gina M Peloso; Ryan Poplin; Manuel A Rivas; Valentin Ruano-Rubio; Samuel A Rose; Douglas M Ruderfer; Khalid Shakir; Peter D Stenson; Christine Stevens; Brett P Thomas; Grace Tiao; Maria T Tusie-Luna; Ben Weisburd; Hong-Hee Won; Dongmei Yu; David M Altshuler; Diego Ardissino; Michael Boehnke; John Danesh; Stacey Donnelly; Roberto Elosua; Jose C Florez; Stacey B Gabriel; Gad Getz; Stephen J Glatt; Christina M Hultman; Sekar Kathiresan; Markku Laakso; Steven McCarroll; Mark I McCarthy; Dermot McGovern; Ruth McPherson; Benjamin M Neale; Aarno Palotie; Shaun M Purcell; Danish Saleheen; Jeremiah M Scharf; Pamela Sklar; Patrick F Sullivan; Jaakko Tuomilehto; Ming T Tsuang; Hugh C Watkins; James G Wilson; Mark J Daly; Daniel G MacArthur
Journal: Nature Date: 2016-08-18 Impact factor: 49.962

23 in total

Review 1. DDX41-related myeloid neoplasia.

Authors: Jaroslaw P Maciejewski; Richard A Padgett; Anna L Brown; Carsten Müller-Tidow
Journal: Semin Hematol Date: 2017-04-21 Impact factor: 3.851

2. Novel germline missense DDX41 variant in a patient with an adult-onset myeloid neoplasm with excess blasts without dysplasia.

Authors: Filippo Pinto E Vairo; Alejandro Ferrer; Elizabeth Cathcart-Rake; Rebecca L King; Matthew T Howard; David S Viswanatha; Eric W Klee; Abhishek A Mangaonkar; Mrinal M Patnaik
Journal: Leuk Lymphoma Date: 2018-11-08

3. Re-emergence of acute myeloid leukemia in donor cells following allogeneic transplantation in a family with a germline DDX41 mutation.

Authors: G Berger; E van den Berg; B Sikkema-Raddatz; K M Abbott; R J Sinke; L B Bungener; A B Mulder; E Vellenga
Journal: Leukemia Date: 2016-10-31 Impact factor: 11.528

Review 4. Spliceosomal factor mutations and mis-splicing in MDS.

Authors: Courtney E Hershberger; Noah J Daniels; Richard A Padgett
Journal: Best Pract Res Clin Haematol Date: 2020-08-01 Impact factor: 3.020

5. How I diagnose and manage individuals at risk for inherited myeloid malignancies.

Authors:
Journal: Blood Date: 2016-07-28 Impact factor: 22.113

Review 6. The DEAD-box protein family of RNA helicases: sentinels for a myriad of cellular functions with emerging roles in tumorigenesis.

Authors: Mohamed A M Ali
Journal: Int J Clin Oncol Date: 2021-03-03 Impact factor: 3.402