Literature DB >> 30923096

A novel germline SAMD9L mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia.

Jesse J C Cheah1,2,3, Anna L Brown1,2,3,4, Andreas W Schreiber5,6, Jinghua Feng6, Milena Babic1, Sarah Moore1, Chun-Chun Young1, Miriam Fine7, Kerry Phillips7, Michael Guandalini8, Peter Wilson9, Nicola Poplawski4,7, Christopher N Hahn1,2,3,10, Hamish S Scott11,2,3,5,6,10.   

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Year:  2019        PMID： 30923096      PMCID： PMC6601105          DOI： 10.3324/haematol.2018.207316

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


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  15 in total

Review 1.  Recognition of familial myeloid neoplasia in adults.

Authors:  Anna L Brown; Jane E Churpek; Luca Malcovati; Hartmut Döhner; Lucy A Godley
Journal:  Semin Hematol       Date:  2017-04-18       Impact factor: 3.851

2.  A landscape of germ line mutations in a cohort of inherited bone marrow failure patients.

Authors:  Olivier Bluteau; Marie Sebert; Thierry Leblanc; Régis Peffault de Latour; Samuel Quentin; Elodie Lainey; Lucie Hernandez; Jean-Hugues Dalle; Flore Sicre de Fontbrune; Etienne Lengline; Raphael Itzykson; Emmanuelle Clappier; Nicolas Boissel; Nadia Vasquez; Mélanie Da Costa; Julien Masliah-Planchon; Wendy Cuccuini; Anna Raimbault; Louis De Jaegere; Lionel Adès; Pierre Fenaux; Sébastien Maury; Claudine Schmitt; Marc Muller; Carine Domenech; Nicolas Blin; Bénédicte Bruno; Isabelle Pellier; Mathilde Hunault; Stéphane Blanche; Arnaud Petit; Guy Leverger; Gérard Michel; Yves Bertrand; André Baruchel; Gérard Socié; Jean Soulier
Journal:  Blood       Date:  2017-11-16       Impact factor: 22.113

Review 3.  ETV6-RUNX1 + Acute Lymphoblastic Leukaemia in Identical Twins.

Authors:  Anthony M Ford; Mel Greaves
Journal:  Adv Exp Med Biol       Date:  2017       Impact factor: 2.622

4.  Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.

Authors:  Bianca Tesi; Josef Davidsson; Matthias Voss; Elisa Rahikkala; Tim D Holmes; Samuel C C Chiang; Jonna Komulainen-Ebrahim; Sorina Gorcenco; Alexandra Rundberg Nilsson; Tim Ripperger; Hannaleena Kokkonen; David Bryder; Thoas Fioretos; Jan-Inge Henter; Merja Möttönen; Riitta Niinimäki; Lars Nilsson; Cornelis Jan Pronk; Andreas Puschmann; Hong Qian; Johanna Uusimaa; Jukka Moilanen; Ulf Tedgård; Jörg Cammenga; Yenan T Bryceson
Journal:  Blood       Date:  2017-02-15       Impact factor: 22.113

Review 5.  The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia.

Authors:  Daniel A Arber; Attilio Orazi; Robert Hasserjian; Jürgen Thiele; Michael J Borowitz; Michelle M Le Beau; Clara D Bloomfield; Mario Cazzola; James W Vardiman
Journal:  Blood       Date:  2016-04-11       Impact factor: 22.113

6.  SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.

Authors:  Satoshi Narumi; Naoko Amano; Tomohiro Ishii; Noriyuki Katsumata; Koji Muroya; Masanori Adachi; Katsuaki Toyoshima; Yukichi Tanaka; Ryuji Fukuzawa; Kenichi Miyako; Saori Kinjo; Shouichi Ohga; Kenji Ihara; Hirosuke Inoue; Tadamune Kinjo; Toshiro Hara; Miyuki Kohno; Shiro Yamada; Hironaka Urano; Yosuke Kitagawa; Koji Tsugawa; Asumi Higa; Masakazu Miyawaki; Takahiro Okutani; Zenro Kizaki; Hiroyuki Hamada; Minako Kihara; Kentaro Shiga; Tetsuya Yamaguchi; Manabu Kenmochi; Hiroyuki Kitajima; Maki Fukami; Atsushi Shimizu; Jun Kudoh; Shinsuke Shibata; Hideyuki Okano; Noriko Miyake; Naomichi Matsumoto; Tomonobu Hasegawa
Journal:  Nat Genet       Date:  2016-05-16       Impact factor: 38.330

7.  Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia.

Authors:  Jane E Churpek; Khateriaa Pyrtel; Krishna-Latha Kanchi; Jin Shao; Daniel Koboldt; Christopher A Miller; Dong Shen; Robert Fulton; Michelle O'Laughlin; Catrina Fronick; Iskra Pusic; Geoffrey L Uy; Evan M Braunstein; Mark Levis; Julie Ross; Kevin Elliott; Sharon Heath; Allan Jiang; Peter Westervelt; John F DiPersio; Daniel C Link; Matthew J Walter; John Welch; Richard Wilson; Timothy J Ley; Lucy A Godley; Timothy A Graubert
Journal:  Blood       Date:  2015-10-22       Impact factor: 22.113

8.  Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia.

Authors:  Sabine Topka; Joseph Vijai; Michael F Walsh; Lauren Jacobs; Ann Maria; Danylo Villano; Pragna Gaddam; Gang Wu; Rose B McGee; Emily Quinn; Hiroto Inaba; Christine Hartford; Ching-Hon Pui; Alberto Pappo; Michael Edmonson; Michael Y Zhang; Polina Stepensky; Peter Steinherz; Kasmintan Schrader; Anne Lincoln; James Bussel; Steve M Lipkin; Yehuda Goldgur; Mira Harit; Zsofia K Stadler; Charles Mullighan; Michael Weintraub; Akiko Shimamura; Jinghui Zhang; James R Downing; Kim E Nichols; Kenneth Offit
Journal:  PLoS Genet       Date:  2015-06-23       Impact factor: 5.917

Review 9.  SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies.

Authors:  Josef Davidsson; Andreas Puschmann; Ulf Tedgård; David Bryder; Lars Nilsson; Jörg Cammenga
Journal:  Leukemia       Date:  2018-02-25       Impact factor: 11.528

10.  Germline SAMD9 and SAMD9L mutations are associated with extensive genetic evolution and diverse hematologic outcomes.

Authors:  Jasmine C Wong; Victoria Bryant; Tamara Lamprecht; Jing Ma; Michael Walsh; Jason Schwartz; Maria Del Pilar Alzamora; Charles G Mullighan; Mignon L Loh; Raul Ribeiro; James R Downing; William L Carroll; Jeffrey Davis; Stuart Gold; Paul C Rogers; Sara Israels; Rochelle Yanofsky; Kevin Shannon; Jeffery M Klco
Journal:  JCI Insight       Date:  2018-07-26
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  7 in total

1.  Multiorgan failure with abnormal receptor metabolism in mice mimicking Samd9/9L syndromes.

Authors:  Akiko Nagamachi; Akinori Kanai; Megumi Nakamura; Hiroshi Okuda; Akihiko Yokoyama; Satoru Shinriki; Hirotaka Matsui; Toshiya Inaba
Journal:  J Clin Invest       Date:  2021-02-15       Impact factor: 14.808

Review 2.  Somatic mosaicism in inherited bone marrow failure syndromes.

Authors:  Fernanda Gutierrez-Rodrigues; Sushree S Sahoo; Marcin W Wlodarski; Neal S Young
Journal:  Best Pract Res Clin Haematol       Date:  2021-06-27       Impact factor: 3.670

3.  Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes.

Authors:  Sushree S Sahoo; Victor B Pastor; Charnise Goodings; Rebecca K Voss; Emilia J Kozyra; Amina Szvetnik; Peter Noellke; Michael Dworzak; Jan Starý; Franco Locatelli; Riccardo Masetti; Markus Schmugge; Barbara De Moerloose; Albert Catala; Krisztián Kállay; Dominik Turkiewicz; Henrik Hasle; Jochen Buechner; Kirsi Jahnukainen; Marek Ussowicz; Sophia Polychronopoulou; Owen P Smith; Oksana Fabri; Shlomit Barzilai; Valerie de Haas; Irith Baumann; Stephan Schwarz-Furlan; Marena R Niewisch; Martin G Sauer; Birgit Burkhardt; Peter Lang; Peter Bader; Rita Beier; Ingo Müller; Michael H Albert; Roland Meisel; Ansgar Schulz; Gunnar Cario; Pritam K Panda; Julius Wehrle; Shinsuke Hirabayashi; Marta Derecka; Robert Durruthy-Durruthy; Gudrun Göhring; Ayami Yoshimi-Noellke; Manching Ku; Dirk Lebrecht; Miriam Erlacher; Christian Flotho; Brigitte Strahm; Charlotte M Niemeyer; Marcin W Wlodarski
Journal:  Nat Med       Date:  2021-10-07       Impact factor: 87.241

Review 4.  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

5.  SAMD9L autoinflammatory or ataxia pancytopenia disease mutations activate cell-autonomous translational repression.

Authors:  Amanda J Russell; Paul E Gray; John B Ziegler; Yae Jean Kim; Sandy Smith; William A Sewell; Christopher C Goodnow
Journal:  Proc Natl Acad Sci U S A       Date:  2021-08-24       Impact factor: 11.205

6.  New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49).

Authors:  Marc Corral-Juan; Pilar Casquero; Natalia Giraldo-Restrepo; Steve Laurie; Alicia Martinez-Piñeiro; Raidili Cristina Mateo-Montero; Lourdes Ispierto; Dolores Vilas; Eduardo Tolosa; Victor Volpini; Ramiro Alvarez-Ramo; Ivelisse Sánchez; Antoni Matilla-Dueñas
Journal:  Brain Commun       Date:  2022-02-10

7.  Leukoencephalopathia, demyelinating peripheral neuropathy and dural ectasia explained by a not formerly described de novo mutation in the SAMD9L gene, ends 27 years of investigations - a case report.

Authors:  Sofia Thunström; Markus Axelsson
Journal:  BMC Neurol       Date:  2019-05-03       Impact factor: 2.474
  7 in total

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