Literature DB >> 30322869

Germline loss-of-function SAMD9 and SAMD9L alterations in adult myelodysplastic syndromes.

Yasunobu Nagata1, Satoshi Narumi2, Yihong Guan1, Bartlomiej P Przychodzen1, Cassandra M Hirsch1, Hideki Makishima3, Hirohito Shima2, Mai Aly1,4, Victor Pastor5, Teodora Kuzmanovic1, Tomas Radivoyevitch1,6, Vera Adema1, Hassan Awada1, Kenichi Yoshida3, Samuel Li7, Francesc Sole8, Rabi Hanna9, Babal K Jha1, Thomas LaFramboise7, Seishi Ogawa3, Mikkael A Sekeres10, Marcin W Wlodarski5, Jörg Cammenga11, Jaroslaw P Maciejewski1.   

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Year:  2018        PMID: 30322869      PMCID: PMC6251008          DOI: 10.1182/blood-2017-05-787390

Source DB:  PubMed          Journal:  Blood        ISSN: 0006-4971            Impact factor:   25.476


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  25 in total

1.  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

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

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

3.  Somatic mutations of calreticulin in myeloproliferative neoplasms.

Authors:  Thorsten Klampfl; Heinz Gisslinger; Ashot S Harutyunyan; Harini Nivarthi; Elisa Rumi; Jelena D Milosevic; Nicole C C Them; Tiina Berg; Bettina Gisslinger; Daniela Pietra; Doris Chen; Gregory I Vladimer; Klaudia Bagienski; Chiara Milanesi; Ilaria Carola Casetti; Emanuela Sant'Antonio; Virginia Ferretti; Chiara Elena; Fiorella Schischlik; Ciara Cleary; Melanie Six; Martin Schalling; Andreas Schönegger; Christoph Bock; Luca Malcovati; Cristiana Pascutto; Giulio Superti-Furga; Mario Cazzola; Robert Kralovics
Journal:  N Engl J Med       Date:  2013-12-10       Impact factor: 91.245

4.  Variegated RHOA mutations in adult T-cell leukemia/lymphoma.

Authors:  Yasunobu Nagata; Kenji Kontani; Terukazu Enami; Keisuke Kataoka; Ryohei Ishii; Yasushi Totoki; Tatsuki R Kataoka; Masahiro Hirata; Kazuhiro Aoki; Kazumi Nakano; Akira Kitanaka; Mamiko Sakata-Yanagimoto; Sachiko Egami; Yuichi Shiraishi; Kenichi Chiba; Hiroko Tanaka; Yusuke Shiozawa; Tetsuichi Yoshizato; Hiromichi Suzuki; Ayana Kon; Kenichi Yoshida; Yusuke Sato; Aiko Sato-Otsubo; Masashi Sanada; Wataru Munakata; Hiromi Nakamura; Natsuko Hama; Satoru Miyano; Osamu Nureki; Tatsuhiro Shibata; Hironori Haga; Kazuya Shimoda; Toshiaki Katada; Shigeru Chiba; Toshiki Watanabe; Seishi Ogawa
Journal:  Blood       Date:  2015-11-16       Impact factor: 22.113

5.  Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome.

Authors:  M C J Jongmans; R P Kuiper; C L Carmichael; E J Wilkins; N Dors; A Carmagnac; A Y N Schouten-van Meeteren; X Li; M Stankovic; E Kamping; H Bengtsson; E F P M Schoenmakers; A Geurts van Kessel; P M Hoogerbrugge; C N Hahn; P P Brons; H S Scott; N Hoogerbrugge
Journal:  Leukemia       Date:  2009-10-15       Impact factor: 11.528

Review 6.  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

7.  Genomic Profiling of Pediatric Acute Myeloid Leukemia Reveals a Changing Mutational Landscape from Disease Diagnosis to Relapse.

Authors:  Jason E Farrar; Heather L Schuback; Rhonda E Ries; Daniel Wai; Oliver A Hampton; Lisa R Trevino; Todd A Alonzo; Jaime M Guidry Auvil; Tanja M Davidsen; Patee Gesuwan; Leandro Hermida; Donna M Muzny; Ninad Dewal; Navin Rustagi; Lora R Lewis; Alan S Gamis; David A Wheeler; Malcolm A Smith; Daniela S Gerhard; Soheil Meshinchi
Journal:  Cancer Res       Date:  2016-03-03       Impact factor: 12.701

8.  Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.

Authors:  Dong-Hui Chen; Jennifer E Below; Akiko Shimamura; Sioban B Keel; Mark Matsushita; John Wolff; Youngmee Sul; Emily Bonkowski; Maria Castella; Toshiyasu Taniguchi; Deborah Nickerson; Thalia Papayannopoulou; Thomas D Bird; Wendy H Raskind
Journal:  Am J Hum Genet       Date:  2016-06-02       Impact factor: 11.025

Review 9.  The enigma of monosomy 7.

Authors:  Toshiya Inaba; Hiroaki Honda; Hirotaka Matsui
Journal:  Blood       Date:  2018-04-03       Impact factor: 22.113

10.  Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.

Authors:  Victor B Pastor; Sushree S Sahoo; Jessica Boklan; Georg C Schwabe; Ebru Saribeyoglu; Brigitte Strahm; Dirk Lebrecht; Matthias Voss; Yenan T Bryceson; Miriam Erlacher; Gerhard Ehninger; Marena Niewisch; Brigitte Schlegelberger; Irith Baumann; John C Achermann; Akiko Shimamura; Jochen Hochrein; Ulf Tedgård; Lars Nilsson; Henrik Hasle; Melanie Boerries; Hauke Busch; Charlotte M Niemeyer; Marcin W Wlodarski
Journal:  Haematologica       Date:  2017-12-07       Impact factor: 9.941

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  14 in total

1.  Assessment of Potential Clinical Role for Exome Sequencing in Schizophrenia.

Authors:  Thivia Balakrishna; David Curtis
Journal:  Schizophr Bull       Date:  2020-02-26       Impact factor: 9.306

2.  Idiopathic aplastic anemia vs hypocellular myelodysplastic syndrome.

Authors:  Jibran Durrani; Jaroslaw P Maciejewski
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2019-12-06

Review 3.  Mechanisms of somatic transformation in inherited bone marrow failure syndromes.

Authors:  Haruna Batzorig Choijilsuren; Yeji Park; Moonjung Jung
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2021-12-10

4.  Identification and prioritization of myeloid malignancy germline variants in a large cohort of adult patients with AML.

Authors:  Fei Yang; Nicola Long; Tauangtham Anekpuritanang; Daniel Bottomly; Jonathan C Savage; Tiffany Lee; Jose Solis-Ruiz; Uma Borate; Beth Wilmot; Cristina Tognon; Allison M Bock; Daniel A Pollyea; Saikripa Radhakrishnan; Srinidhi Radhakrishnan; Prapti Patel; Robert H Collins; Srinivas Tantravahi; Michael W Deininger; Guang Fan; Brian Druker; Ujwal Shinde; Jeffrey W Tyner; Richard D Press; Shannon McWeeney; Anupriya Agarwal
Journal:  Blood       Date:  2022-02-24       Impact factor: 25.476

5.  Human mutational constraint as a tool to understand biology of rare and emerging bone marrow failure syndromes.

Authors:  Joseph H Oved; Daria V Babushok; Michele P Lambert; Nicole Wolfset; M Anna Kowalska; Mortimer Poncz; Konrad J Karczewski; Timothy S Olson
Journal:  Blood Adv       Date:  2020-10-27

Review 6.  Somatic genetic rescue in Mendelian haematopoietic diseases.

Authors:  Patrick Revy; Caroline Kannengiesser; Alain Fischer
Journal:  Nat Rev Genet       Date:  2019-06-11       Impact factor: 53.242

7.  Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases.

Authors:  Adriana A de Jesus; Yangfeng Hou; Stephen Brooks; Louise Malle; Angelique Biancotto; Yan Huang; Katherine R Calvo; Bernadette Marrero; Susan Moir; Andrew J Oler; Zuoming Deng; Gina A Montealegre Sanchez; Amina Ahmed; Eric Allenspach; Bita Arabshahi; Edward Behrens; Susanne Benseler; Liliana Bezrodnik; Sharon Bout-Tabaku; AnneMarie C Brescia; Diane Brown; Jon M Burnham; Maria Soledad Caldirola; Ruy Carrasco; Alice Y Chan; Rolando Cimaz; Paul Dancey; Jason Dare; Marietta DeGuzman; Victoria Dimitriades; Ian Ferguson; Polly Ferguson; Laura Finn; Marco Gattorno; Alexei A Grom; Eric P Hanson; Philip J Hashkes; Christian M Hedrich; Ronit Herzog; Gerd Horneff; Rita Jerath; Elizabeth Kessler; Hanna Kim; Daniel J Kingsbury; Ronald M Laxer; Pui Y Lee; Min Ae Lee-Kirsch; Laura Lewandowski; Suzanne Li; Vibke Lilleby; Vafa Mammadova; Lakshmi N Moorthy; Gulnara Nasrullayeva; Kathleen M O'Neil; Karen Onel; Seza Ozen; Nancy Pan; Pascal Pillet; Daniela Gp Piotto; Marilynn G Punaro; Andreas Reiff; Adam Reinhardt; Lisa G Rider; Rafael Rivas-Chacon; Tova Ronis; Angela Rösen-Wolff; Johannes Roth; Natasha Mckerran Ruth; Marite Rygg; Heinrike Schmeling; Grant Schulert; Christiaan Scott; Gisella Seminario; Andrew Shulman; Vidya Sivaraman; Mary Beth Son; Yuriy Stepanovskiy; Elizabeth Stringer; Sara Taber; Maria Teresa Terreri; Cynthia Tifft; Troy Torgerson; Laura Tosi; Annet Van Royen-Kerkhof; Theresa Wampler Muskardin; Scott W Canna; Raphaela Goldbach-Mansky
Journal:  J Clin Invest       Date:  2020-04-01       Impact factor: 14.808

Review 8.  Advances in germline predisposition to acute leukaemias and myeloid neoplasms.

Authors:  Jeffery M Klco; Charles G Mullighan
Journal:  Nat Rev Cancer       Date:  2020-12-16       Impact factor: 60.716

9.  A Therapeutic Strategy for Preferential Targeting of TET2 Mutant and TET-dioxygenase Deficient Cells in Myeloid Neoplasms.

Authors:  Yihong Guan; Anand D Tiwari; James G Phillips; Metis Hasipek; Dale R Grabowski; Simona Pagliuca; Priyanka Gopal; Cassandra M Kerr; Vera Adema; Tomas Radivoyevitch; Yvonne Parker; Daniel J Lindner; Manja Meggendorfer; Mohamed Abazeed; Mikkeal A Sekeres; Omar Y Mian; Torsten Haferlach; Jaroslaw P Maciejewski; Babal K Jha
Journal:  Blood Cancer Discov       Date:  2020-12-07

10.  Assessment of technical heterogeneity among diagnostic tests to detect germline risk variants for hematopoietic malignancies.

Authors:  Gregory W Roloff; Lucy A Godley; Michael W Drazer
Journal:  Genet Med       Date:  2020-08-18       Impact factor: 8.864

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