U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Gene

Items: 1 to 20 of 31

1.
Functional Study of SAMD9L in Familial Gastric Cancer
Xu Kaixuan, Zhang Xiaobin, Tang Jiaxuan, Liu Shihui, Wang Xinxin, Hu Shuwei, Dai Penggao, Luo Xiang
Turk J Gastroenterol. 2023 May; 34(5): 472–482. Published online 2023 May 1. doi: 10.5152/tjg.2023.22267
PMCID:
PMC10334681
AbstractArticlePDF–4.1M
2.
Clonal Elimination of the Pathogenic Allele as Diagnostic Pitfall in SAMD9L-Associated Neuropathy
K. Eggermann, R. Meyer, M. Begemann, D. Dey, E. Bültmann, I. Kurth, G. C. Korenke, C. Knopp
Genes (Basel) 2022 Dec; 13(12): 2356. Published online 2022 Dec 14. doi: 10.3390/genes13122356
PMCID:
PMC9778166
AbstractArticlePDF–2.4M
3.
SAMD9L autoinflammatory or ataxia pancytopenia disease mutations activate cell-autonomous translational repression
Amanda J. Russell, Paul E. Gray, John B. Ziegler, Yae Jean Kim, Sandy Smith, William A. Sewell, Christopher C. Goodnow
Proc Natl Acad Sci U S A. 2021 Aug 24; 118(34): e2110190118. Published online 2021 Aug 20. doi: 10.1073/pnas.2110190118
PMCID:
PMC8403910
AbstractArticlePDF–1.4M
4.
A novel germline SAMD9L mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia
Jesse J.C. Cheah, Anna L. Brown, Andreas W. Schreiber, Jinghua Feng, Milena Babic, Sarah Moore, Chun-Chun Young, Miriam Fine, Kerry Phillips, Michael Guandalini, Peter Wilson, Nicola Poplawski, Christopher N. Hahn, Hamish S. Scott
Haematologica. 2019 Jul; 104(7): e318–e321. doi: 10.3324/haematol.2018.207316
PMCID:
PMC6601105
ArticlePDF–817K
5.
Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7
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
Haematologica. 2018 Mar; 103(3): 427–437. Prepublished online 2017 Dec 7. doi: 10.3324/haematol.2017.180778
PMCID:
PMC5830370
AbstractArticlePDF–1.8M
6.
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms
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
Blood. 2017 Apr 20; 129(16): 2266–2279. Prepublished online 2017 Feb 15. doi: 10.1182/blood-2016-10-743302
PMCID:
PMC5399482
AbstractArticle
7.
Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L
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
Am J Hum Genet. 2016 Jun 2; 98(6): 1146–1158. Published online 2016 Jun 2. doi: 10.1016/j.ajhg.2016.04.009
PMCID:
PMC4908176
AbstractArticlePDF–1.7M
8.
SAMD9L Inactivation Promotes Cell Proliferation via Facilitating G1-S Transition in Hepatitis B Virus-associated Hepatocellular Carcinoma
Qun Wang, Yang-Yang Zhai, Ji-Hong Dai, Kun-Yu Li, Qing Deng, Ze-Guang Han
Int J Biol Sci. 2014; 10(8): 807–816. Published online 2014 Jul 17. doi: 10.7150/ijbs.9143
PMCID:
PMC4115192
AbstractArticlePDF–1.1M
9.
Evolution and divergence of the mammalian SAMD9/SAMD9L gene family
Ana Lemos de Matos, Jia Liu, Grant McFadden, Pedro J Esteves
BMC Evol Biol. 2013; 13: 121. Published online 2013 Jun 12. doi: 10.1186/1471-2148-13-121
PMCID:
PMC3685527
AbstractArticlePDF–1013K
10.
SAMD9/9L突变致儿童全血细胞减少性疾病5例报告及文献复习
尚 倩雯, 薛 莲, 张 乐萍, 陆 爱东
Zhonghua Xue Ye Xue Za Zhi. 2023 Apr; 44(4): 340–343. Chinese. doi: 10.3760/cma.j.issn.0253-2727.2023.04.014
PMCID:
PMC10282867
ArticlePDF–829K
11.
Clinical Evolution, Genetic Landscape, and Trajectories of Clonal Hematopoiesis in SAMD9/SAMD9L Syndromes
Sushree S Sahoo, Victor B Pastor, Charnise Goodings, Rebecca K Voss, Emilia J Kozyra, Amina Szvetnik, Peter Noellke, Michael Dworzak, Jan Stary, 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, European Working Group of MDS in Children (EWOG-MDS), 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
Nat Med. Author manuscript; available in PMC 2022 Jul 28.
Published in final edited form as: Nat Med. 2021 Oct; 27(10): 1806–1817. Published online 2021 Oct 7. doi: 10.1038/s41591-021-01511-6
Correction in:
Nat Med. 2021 Nov 19
PMCID:
PMC9330547
AbstractArticlePDF–4.8M
12.
New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49)
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
Brain Commun. 2022; 4(2): fcac030. Published online 2022 Feb 10. doi: 10.1093/braincomms/fcac030
PMCID:
PMC8928420
AbstractArticlePDF–2.0M
13.
Pediatric MDS and bone marrow failure-associated germline mutations in SAMD9 and SAMD9L impair multiple pathways in primary hematopoietic cells
Melvin E. Thomas, III, Sherif Abdelhamed, Ryan Hiltenbrand, Jason R. Schwartz, Sadie Miki Sakurada, Michael Walsh, Guangchun Song, Jing Ma, Shondra M. Pruett-Miller, Jeffery M. Klco
Leukemia. 2021; 35(11): 3232–3244. Published online 2021 Mar 17. doi: 10.1038/s41375-021-01212-6
PMCID:
PMC8446103
AbstractArticlePDF–3.1M
14.
Germline loss-of-function SAMD9 and SAMD9L alterations in adult myelodysplastic syndromes
Yasunobu Nagata, Satoshi Narumi, Yihong Guan, Bartlomiej P. Przychodzen, Cassandra M. Hirsch, Hideki Makishima, Hirohito Shima, Mai Aly, Victor Pastor, Teodora Kuzmanovic, Tomas Radivoyevitch, Vera Adema, Hassan Awada, Kenichi Yoshida, Samuel Li, Francesc Sole, Rabi Hanna, Babal K. Jha, Thomas LaFramboise, Seishi Ogawa, Mikkael A. Sekeres, Marcin W. Wlodarski, Jörg Cammenga, Jaroslaw P. Maciejewski
Blood. 2018 Nov 22; 132(21): 2309–2313. Prepublished online 2018 Oct 15. doi: 10.1182/blood-2017-05-787390
PMCID:
PMC6251008
Article
15.
SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies
Josef Davidsson, Andreas Puschmann, Ulf Tedgård, David Bryder, Lars Nilsson, Jörg Cammenga
Leukemia. 2018; 32(5): 1106–1115. Published online 2018 Feb 25. doi: 10.1038/s41375-018-0074-4
PMCID:
PMC5940635
AbstractArticlePDF–784K
16.
A paralogous pair of mammalian host restriction factors form a critical host barrier against poxvirus infection
Xiangzhi Meng, Fushun Zhang, Bo Yan, Chuanping Si, Hiroaki Honda, Akiko Nagamachi, Lu-Zhe Sun, Yan Xiang
PLoS Pathog. 2018 Feb; 14(2): e1006884. Published online 2018 Feb 15. doi: 10.1371/journal.ppat.1006884
PMCID:
PMC5831749
AbstractArticlePDF–4.1M
17.
Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse
Catherine F Li, Jeffrey R MacDonald, Robert Y Wei, Jocelyn Ray, Kimberly Lau, Christopher Kandel, Rachel Koffman, Sherilyn Bell, Stephen W Scherer, Benjamin A Alman
BMC Genomics. 2007; 8: 92. Published online 2007 Apr 3. doi: 10.1186/1471-2164-8-92
PMCID:
PMC1855325
AbstractArticlePDF–1.0M
18.
Up‐regulated SAMD9L modulated by TLR2 and HIF‐1α as a promising biomarker in tuberculosis
Xiang‐juan Zhang, Hai‐shan Xu, Chong‐hui Li, Yu‐rong Fu, Zheng‐jun Yi
J Cell Mol Med. 2022 May; 26(10): 2935–2946. Published online 2022 Apr 7. doi: 10.1111/jcmm.17307
PMCID:
PMC9097843
AbstractArticlePDF–7.1M
19.
Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes
Sushree S. Sahoo, Emilia J. Kozyra, Marcin W. Wlodarski
Best Pract Res Clin Haematol. 2020 Sep; 33(3): 101197. Published online 2020 Jul 29. doi: 10.1016/j.beha.2020.101197
PMCID:
PMC7388796
AbstractArticlePDF–4.6M
20.
Patient mutation directed shRNA screen uncovers novel bladder tumor growth suppressors
Jonathan Hensel, Jason E. Duex, Charles Owens, Garrett M. Dancik, Michael G. Edwards, Henry F. Frierson, Dan Theodorescu
Mol Cancer Res. Author manuscript; available in PMC 2016 Sep 1.
Published in final edited form as: Mol Cancer Res. 2015 Sep; 13(9): 1306–1315. Published online 2015 Jun 15. doi: 10.1158/1541-7786.MCR-15-0130
PMCID:
PMC4573363
AbstractArticlePDF–1.0M

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center