Literature DB >> 29365320

Poor outcome with hematopoietic stem cell transplantation for bone marrow failure and MDS with severe MIRAGE syndrome phenotype.

Jay Sarthy1,2, Ji Zha3, Daria Babushok3, Archana Shenoy4, Jian-Meng Fan3, Gerald Wertheim4, Adam Himebauch5, Ashley Munchel6, Agne Taraseviciute1,2, Samuel Yang7, Hirohito Shima8, Satoshi Narumi8, Soheil Meshinchi1,2, Timothy S Olson3,9.   

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Year:  2018        PMID： 29365320      PMCID： PMC5787871          DOI： 10.1182/bloodadvances.2017012682

Source DB:  PubMed          Journal:  Blood Adv        ISSN： 2473-9529


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  6 in total

1.  Comment on: Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features of dyskeratosis congenita and IMAGe association.

Authors:  David B Wilson; Monica Bessler; Thomas W Ferkol; Shalini Shenoy; Naoko Amano; Tomohiro Ishii; Hirohito Shima; Satoshi Narumi
Journal:  Pediatr Blood Cancer       Date:  2017-08-17       Impact factor: 3.167

2.  A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.

Authors:  Orit Topaz; Margarita Indelman; Ilana Chefetz; Dan Geiger; Aryeh Metzker; Yoram Altschuler; Mordechai Choder; Dani Bercovich; Jouni Uitto; Reuven Bergman; Gabriele Richard; Eli Sprecher
Journal:  Am J Hum Genet       Date:  2006-08-24       Impact factor: 11.025

3.  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

4.  Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein.

Authors:  Ilana Chefetz; Danny Ben Amitai; Sarah Browning; Karl Skorecki; Noam Adir; Mark G Thomas; Larissa Kogleck; Orit Topaz; Margarita Indelman; Jouni Uitto; Gabriele Richard; Neil Bradman; Eli Sprecher
Journal:  J Invest Dermatol       Date:  2007-12-20       Impact factor: 8.551

5.  Germline SAMD9 mutation in siblings with monosomy 7 and myelodysplastic syndrome.

Authors:  J R Schwartz; S Wang; J Ma; T Lamprecht; M Walsh; G Song; S C Raimondi; G Wu; M F Walsh; R B McGee; C Kesserwan; K E Nichols; B E Cauff; R C Ribeiro; M Wlodarski; J M Klco
Journal:  Leukemia       Date:  2017-05-10       Impact factor: 11.528

6.  Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans.

Authors:  Federica Buonocore; Peter Kühnen; Jenifer P Suntharalingham; Ignacio Del Valle; Martin Digweed; Harald Stachelscheid; Noushafarin Khajavi; Mohammed Didi; Angela F Brady; Oliver Blankenstein; Annie M Procter; Paul Dimitri; Jerry K H Wales; Paolo Ghirri; Dieter Knöbl; Brigitte Strahm; Miriam Erlacher; Marcin W Wlodarski; Wei Chen; George K Kokai; Glenn Anderson; Deborah Morrogh; Dale A Moulding; Shane A McKee; Charlotte M Niemeyer; Annette Grüters; John C Achermann
Journal:  J Clin Invest       Date:  2017-03-27       Impact factor: 14.808
  6 in total
  13 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.  Recent advances in hematopoietic cell transplantation for inherited bone marrow failure syndromes.

Authors:  Hirotoshi Sakaguchi; Nao Yoshida
Journal:  Int J Hematol       Date:  2022-05-28       Impact factor: 2.490

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.  Genetic Predisposition to Myelodysplastic Syndrome in Clinical Practice.

Authors:  Kristen E Schratz; Amy E DeZern
Journal:  Hematol Oncol Clin North Am       Date:  2020-01-06       Impact factor: 3.722

Review 5.  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

6.  A Rare Etiology of 46,XY Disorder of Sex Development and Adrenal Insufficiency: A Case of MIRAGE Syndrome Caused by Mutations in the SAMD9 Gene

Authors:  Eda Mengen; Aynur Küçükçongar Yavaş; S. Ahmet Uçaktürk
Journal:  J Clin Res Pediatr Endocrinol       Date:  2019-06-18

7.  Reversion SAMD9 Mutations Modifying Phenotypic Expression of MIRAGE Syndrome and Allowing Inheritance in a Usually de novo Disorder.

Authors:  Florence Roucher-Boulez; Delphine Mallet; Nicolas Chatron; Frédérique Dijoud; Daniela Brindusa Gorduza; Patricia Bretones; Yves Morel
Journal:  Front Endocrinol (Lausanne)       Date:  2019-09-11       Impact factor: 5.555

8.  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

9.  A girl with MIRAGE syndrome who developed steroid-resistant nephrotic syndrome: a case report.

Authors:  Sho Ishiwa; Koichi Kamei; Kanako Tanase-Nakao; Shinsuke Shibata; Kunihiro Matsunami; Ichiro Takeuchi; Mai Sato; Kenji Ishikura; Satoshi Narumi
Journal:  BMC Nephrol       Date:  2020-08-12       Impact factor: 2.388

10.  Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement.

Authors:  Renata Formankova; Veronika Kanderova; Marketa Rackova; Michael Svaton; Tomas Brdicka; Petr Riha; Petra Keslova; Ester Mejstrikova; Marketa Zaliova; Tomas Freiberger; Hana Grombirikova; Zuzana Zemanova; Marcela Vlkova; Filip Fencl; Ivana Copova; Jiri Bronsky; Petr Jabandziev; Petr Sedlacek; Jana Soukalova; Ondrej Zapletal; Jan Stary; Jan Trka; Tomas Kalina; Karolina Skvarova Kramarzova; Eva Hlavackova; Jiri Litzman; Eva Fronkova
Journal:  Front Immunol       Date:  2019-09-18       Impact factor: 7.561
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