PMC Links for GEO Profiles (Select 72691508) - PMC

Engin Demirdizen, Ruslan Al-Ali, Ashwin Narayanan, Xueyuan Sun, Julianna Patricia Varga, Bianca Steffl, Manuela Brom, Damir Krunic, Claudia Schmidt, Gabriele Schmidt, Felix Bestvater, Julian Taranda, Şevin Turcan

Neuro Oncol. 2023 Jun; 25(6): 1031–1043. Published online 2022 Nov 22. doi: 10.1093/neuonc/noac233

PMCID:: PMC10237422

Article PDF–23M

Select item 97781664.

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

Article PDF–2.4M

Select item 93305475.

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

Article PDF–4.8M

Select item 90978436.

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

Article PDF–7.1M

Select item 89284207.

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

Article PDF–2.0M

Select item 84461038.

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

Article PDF–3.1M

Select item 84039109.

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

Article PDF–1.4M

Select item 828276410.

N6-methyladenosine on mRNA facilitates a phase-separated nuclear body that suppresses myeloid leukemic differentiation

Yuanming Cheng, Wei Xie, Brian F Pickering, Karen L Chu, Angela M Savino, Xuejing Yang, Hanzhi Luo, Diu TT Nguyen, Shanlan Mo, Ersilia Barin, Anthony Velleca, Thomas Rohwetter, Dinshaw J Patel, Samie R Jaffrey, Michael G Kharas

Cancer Cell. Author manuscript; available in PMC 2022 Jul 12.

Published in final edited form as: Cancer Cell. 2021 Jul 12; 39(7): 958–972.e8. Published online 2021 May 27. doi: 10.1016/j.ccell.2021.04.017

PMCID:: PMC8282764

Article PDF–3.4M

Select item 788041311.

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

Akiko Nagamachi, Akinori Kanai, Megumi Nakamura, Hiroshi Okuda, Akihiko Yokoyama, Satoru Shinriki, Hirotaka Matsui, Toshiya Inaba

J Clin Invest. 2021 Feb 15; 131(4): e140147. Published online 2021 Feb 15. doi: 10.1172/JCI140147

PMCID:: PMC7880413

Article PDF–24M

Select item 738879612.

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

Article PDF–4.6M

Select item 732206713.

RIG-I regulates myeloid differentiation by promoting TRIM25-mediated ISGylation

Song-Fang Wu, Li Xia, Xiao-Dong Shi, Yu-Jun Dai, Wei-Na Zhang, Jun-Mei Zhao, Wu Zhang, Xiang-Qin Weng, Jing Lu, Huang-Ying Le, Sheng-ce Tao, Jiang Zhu, Zhu Chen, Yue-Ying Wang, Saijuan Chen

Proc Natl Acad Sci U S A. 2020 Jun 23; 117(25): 14395–14404. Published online 2020 Jun 8. doi: 10.1073/pnas.1918596117

PMCID:: PMC7322067

Article PDF–2.7M

Select item 677813714.

The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis

Luisa Capalbo, Zuni I. Bassi, Marco Geymonat, Sofia Todesca, Liviu Copoiu, Anton J. Enright, Giuliano Callaini, Maria Giovanna Riparbelli, Lu Yu, Jyoti S. Choudhary, Enrico Ferrero, Sally Wheatley, Max E. Douglas, Masanori Mishima, Pier Paolo D’Avino

Nat Commun. 2019; 10: 4513. Published online 2019 Oct 4. doi: 10.1038/s41467-019-12507-9

PMCID:: PMC6778137

Article PDF–7.8M

Select item 660110515.

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

Article PDF–817K

Select item 625100816.

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

Select item 607772217.

Estrogen-regulated feedback loop limits the efficacy of estrogen receptor–targeted breast cancer therapy

Tengfei Xiao, Wei Li, Xiaoqing Wang, Han Xu, Jixin Yang, Qiu Wu, Ying Huang, Joseph Geradts, Peng Jiang, Teng Fei, David Chi, Chongzhi Zang, Qi Liao, Jonathan Rennhack, Eran Andrechek, Nanlin Li, Simone Detre, Mitchell Dowsett, Rinath M. Jeselsohn, X. Shirley Liu, Myles Brown

Proc Natl Acad Sci U S A. 2018 Jul 31; 115(31): 7869–7878. Published online 2018 Jul 9. doi: 10.1073/pnas.1722617115

PMCID:: PMC6077722

Article PDF–2.4M

Select item 594063518.

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

Article PDF–784K

Select item 583174919.

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

Article PDF–4.1M

Select item 583037020.

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

Article PDF–1.8M

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