Literature DB >> 30407884

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

Filippo Pinto E Vairo1,2, Alejandro Ferrer1,2, Elizabeth Cathcart-Rake3, Rebecca L King3, Matthew T Howard3, David S Viswanatha4, Eric W Klee1,2,4,5, Abhishek A Mangaonkar3, Mrinal M Patnaik3.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2018        PMID： 30407884      PMCID： PMC6472976          DOI： 10.1080/10428194.2018.1522443

Source DB:  PubMed          Journal:  Leuk Lymphoma        ISSN： 1026-8022


× No keyword cloud information.
  13 in total

1.  Familial aggregation of acute myeloid leukemia and myelodysplastic syndromes.

Authors:  Lynn R Goldin; Sigurdur Y Kristinsson; Xueying Sharon Liang; Asa R Derolf; Ola Landgren; Magnus Björkholm
Journal:  J Clin Oncol       Date:  2011-12-12       Impact factor: 44.544

2.  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

3.  M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity.

Authors:  Karthik A Jagadeesh; Aaron M Wenger; Mark J Berger; Harendra Guturu; Peter D Stenson; David N Cooper; Jonathan A Bernstein; Gill Bejerano
Journal:  Nat Genet       Date:  2016-10-24       Impact factor: 38.330

4.  Topography, clinical, and genomic correlates of 5q myeloid malignancies revisited.

Authors:  Andres Jerez; Lukasz P Gondek; Anna M Jankowska; Hideki Makishima; Bartlomiej Przychodzen; Ramon V Tiu; Christine L O'Keefe; Azim M Mohamedali; Denise Batista; Mikkael A Sekeres; Michael A McDevitt; Ghulam J Mufti; Jaroslaw P Maciejewski
Journal:  J Clin Oncol       Date:  2012-02-27       Impact factor: 44.544

5.  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

Review 6.  The genetics of myelodysplastic syndrome: from clonal haematopoiesis to secondary leukaemia.

Authors:  Adam S Sperling; Christopher J Gibson; Benjamin L Ebert
Journal:  Nat Rev Cancer       Date:  2016-11-11       Impact factor: 60.716

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

Authors:  Ruijuan Li; Nara Sobreira; P Dane Witmer; Keith W Pratz; Evan M Braunstein
Journal:  Haematologica       Date:  2016-03-04       Impact factor: 9.941

8.  Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms.

Authors:  Chantana Polprasert; Isabell Schulze; Mikkael A Sekeres; Hideki Makishima; Bartlomiej Przychodzen; Naoko Hosono; Jarnail Singh; Richard A Padgett; Xiaorong Gu; James G Phillips; Michael Clemente; Yvonne Parker; Daniel Lindner; Brittney Dienes; Eckhard Jankowsky; Yogen Saunthararajah; Yang Du; Kevin Oakley; Nhu Nguyen; Sudipto Mukherjee; Caroline Pabst; Lucy A Godley; Jane E Churpek; Daniel A Pollyea; Utz Krug; Wolfgang E Berdel; Hans-Ulrich Klein; Martin Dugas; Yuichi Shiraishi; Kenichi Chiba; Hiroko Tanaka; Satoru Miyano; Kenichi Yoshida; Seishi Ogawa; Carsten Müller-Tidow; Jaroslaw P Maciejewski
Journal:  Cancer Cell       Date:  2015-04-23       Impact factor: 31.743

9.  The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes.

Authors:  Ayal B Gussow; Slavé Petrovski; Quanli Wang; Andrew S Allen; David B Goldstein
Journal:  Genome Biol       Date:  2016-01-18       Impact factor: 13.583

10.  PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Authors:  Jaroslav Bendl; Miloš Musil; Jan Štourač; Jaroslav Zendulka; Jiří Damborský; Jan Brezovský
Journal:  PLoS Comput Biol       Date:  2016-05-25       Impact factor: 4.475
View more
  4 in total

Review 1.  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

2.  AML with germline DDX41 variants is a clinicopathologically distinct entity with an indolent clinical course and favorable outcome.

Authors:  Peng Li; Thomas White; Wei Xie; Wei Cui; Deniz Peker; Gang Zeng; Huan-You Wang; Jennie Vagher; Sara Brown; Margaret Williams; Tibor Kovacsovics; Jay L Patel
Journal:  Leukemia       Date:  2021-10-20       Impact factor: 12.883

3.  Unique ethnic features of DDX41 mutations in patients with idiopathic cytopenia of undetermined significance, myelodysplastic syndrome, or acute myeloid leukemia.

Authors:  Eun-Ji Choi; Young-Uk Cho; Eun-Hye Hur; Seongsoo Jang; Nayoung Kim; Han-Seung Park; Jung-Hee Lee; Kyoo-Hyung Lee; Si-Hwan Kim; Sang-Hyun Hwang; Eul-Ju Seo; Chan-Jeoung Park; Je-Hwan Lee
Journal:  Haematologica       Date:  2022-02-01       Impact factor: 9.941

Review 4.  Clinical features of DDX41 mutation-related diseases: a systematic review with individual patient data.

Authors:  Ziqi Wan; Bing Han
Journal:  Ther Adv Hematol       Date:  2021-07-16
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.