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Items: 1 to 20 of 46

1.
Modulation of NBAS-Related Functions in the Early Response to SARS-CoV-2 Infection
Valentina Granata, Isabel Pagani, Emanuela Morenghi, Maria Lucia Schiavone, Alessandra Lezzi, Silvia Ghezzi, Elisa Vicenzi, Guido Poli, Cristina Sobacchi
Int J Mol Sci. 2023 Feb; 24(3): 2634. Published online 2023 Jan 30. doi: 10.3390/ijms24032634
PMCID:
PMC9916797
AbstractArticlePDF–2.9M
2.
NBAS, a gene involved in cytotoxic degranulation, is recurrently mutated in pediatric hemophagocytic lymphohistiocytosis
Xiaoman Bi, Qing Zhang, Lei Chen, Dan Liu, Yueying Li, Xiaoxi Zhao, Ya Zhang, Liping Zhang, Jingkun Liu, Chaoyi Wu, Zhigang Li, Yunze Zhao, Honghao Ma, Gang Huang, Xin Liu, Qian-fei Wang, Rui Zhang
J Hematol Oncol. 2022; 15: 101. Published online 2022 Jul 28. doi: 10.1186/s13045-022-01318-z
PMCID:
PMC9331571
AbstractArticlePDF–3.2M
3.
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency
Dominic Lenz, Jens Pahl, Fabian Hauck, Seham Alameer, Meena Balasubramanian, Ivo Baric, Nikolas Boy, Joseph A. Church, Ellen Crushell, Anke Dick, Felix Distelmaier, Jidnyasa Gujar, Giuseppe Indolfi, Eberhard Lurz, Bianca Peters, Tobias Schwerd, Daniele Serranti, Stefan Kölker, Christoph Klein, Georg F. Hoffmann, Holger Prokisch, Johann Greil, Adelheid Cerwenka, Thomas Giese, Christian Staufner
J Clin Immunol. 2021; 41(8): 1781–1793. Published online 2021 Aug 13. doi: 10.1007/s10875-021-01110-7
PMCID:
PMC8604887
AbstractArticlePDF–2.2M
4.
Novel compound heterozygous variants in the NBAS gene in a child with osteogenesis imperfecta and recurrent acute liver failure
Sowmya Krishnan, Ankur Rughani, Anne Tsai, Sirish Palle
BMJ Case Rep. 2021; 14(2): e234993. Published online 2021 Feb 4. doi: 10.1136/bcr-2020-234993
PMCID:
PMC7868262
AbstractArticlePDF–529K
5.
Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta
M Balasubramanian, J Hurst, S Brown, NJ Bishop, P Arundel, C DeVile, RC Pollitt, L Crooks, D Longman, JF Caceres, F Shackley, S Connolly, JH Payne, AC Offiah, D Hughes, DDD Study, MJ Parker, W Hide, T Skerry
Bone. Author manuscript; available in PMC 2018 Jul 31.
Published in final edited form as: Bone. 2017 Jan; 94: 65–74. Published online 2016 Oct 24. doi: 10.1016/j.bone.2016.10.023
PMCID:
PMC6067660
AbstractArticlePDF–2.6M
6.
Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective study
Jia-Qi Li, Yi-Ling Qiu, Jing-Yu Gong, Li-Min Dou, Yi Lu, A. S. Knisely, Mei-Hong Zhang, Wei-Sha Luan, Jian-She Wang
BMC Gastroenterol. 2017; 17: 77. Published online 2017 Jun 19. doi: 10.1186/s12876-017-0636-3
PMCID:
PMC5477288
AbstractArticlePDF–641K
7.
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy
Tobias B. Haack, Christian Staufner, Marlies G. Köpke, Beate K. Straub, Stefan Kölker, Christian Thiel, Peter Freisinger, Ivo Baric, Patrick J. McKiernan, Nicola Dikow, Inga Harting, Flemming Beisse, Peter Burgard, Urania Kotzaeridou, Joachim Kühr, Urban Himbert, Robert W. Taylor, Felix Distelmaier, Jerry Vockley, Lina Ghaloul-Gonzalez, Johannes Zschocke, Laura S. Kremer, Elisabeth Graf, Thomas Schwarzmayr, Daniel M. Bader, Julien Gagneur, Thomas Wieland, Caterina Terrile, Tim M. Strom, Thomas Meitinger, Georg F. Hoffmann, Holger Prokisch
Am J Hum Genet. 2015 Jul 2; 97(1): 163–169. doi: 10.1016/j.ajhg.2015.05.009
PMCID:
PMC4572578
AbstractArticlePDF–778K
8.
Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger–Huët anomaly
Nadezda Maksimova, Kenju Hara, Irina Nikolaeva, Tan Chun-Feng, Tomoaki Usui, Mineo Takagi, Yasushi Nishihira, Akinori Miyashita, Hiroshi Fujiwara, Tokuhide Oyama, Anna Nogovicina, Aitalina Sukhomyasova, Svetlana Potapova, Ryozo Kuwano, Hitoshi Takahashi, Masatoyo Nishizawa, Osamu Onodera
J Med Genet. 2010 Aug; 47(8): 538–548. Published online 2010 Jun 24. doi: 10.1136/jmg.2009.074815
PMCID:
PMC2921285
AbstractArticlePDF–1.8M
9.
Breakpoint Features of Genomic Rearrangements in Neuroblastoma with Unbalanced Translocations and Chromothripsis
Valentina Boeva, Stéphanie Jouannet, Romain Daveau, Valérie Combaret, Cécile Pierre-Eugène, Alex Cazes, Caroline Louis-Brennetot, Gudrun Schleiermacher, Sandrine Ferrand, Gaëlle Pierron, Alban Lermine, Thomas Rio Frio, Virginie Raynal, Gilles Vassal, Emmanuel Barillot, Olivier Delattre, Isabelle Janoueix-Lerosey
PLoS One. 2013; 8(8): e72182. Published online 2013 Aug 26. doi: 10.1371/journal.pone.0072182
PMCID:
PMC3753337
AbstractArticlePDF–2.0M
10.
Identification of the Neuroblastoma-amplified Gene Product as a Component of the Syntaxin 18 Complex Implicated in Golgi-to-Endoplasmic Reticulum Retrograde Transport
Takehiro Aoki, Sarah Ichimura, Ayano Itoh, Mami Kuramoto, Takashi Shinkawa, Toshiaki Isobe, Mitsuo Tagaya
Mol Biol Cell. 2009 Jun 1; 20(11): 2639–2649. doi: 10.1091/mbc.E08-11-1104
PMCID:
PMC2688544
AbstractArticlePDF–464K
11.
Genome-wide association study of conduct disorder symptomatology
DM Dick, F Aliev, RF Krueger, A Edwards, A Agrawal, M Lynskey, P Lin, M Schuckit, V Hesselbrock, J Nurnberger, Jr, L Almasy, B Porjesz, HJ Edenberg, K Bucholz, J Kramer, S Kuperman, L Bierut
Mol Psychiatry. Author manuscript; available in PMC 2013 Feb 25.
Published in final edited form as: Mol Psychiatry. 2011 Aug; 16(8): 800–808. Published online 2010 Jun 29. doi: 10.1038/mp.2010.73
PMCID:
PMC3580835
AbstractArticlePDF–684K
12.
Genome-wide Meta-analysis Identifies Variants Associated with Platinating Agent Susceptibility Across Populations
Heather E. Wheeler, Eric R. Gamazon, Amy L. Stark, Peter H. O’Donnell, Lidija K. Gorsic, R. Stephanie Huang, Nancy J. Cox, M. Eileen Dolan
Pharmacogenomics J. Author manuscript; available in PMC 2013 Aug 1.
Published in final edited form as: Pharmacogenomics J. 2013 Feb; 13(1): 35–43. Published online 2011 Aug 16. doi: 10.1038/tpj.2011.38
PMCID:
PMC3370147
AbstractArticlePDF–621K
13.
Implication of ZW10 in membrane trafficking between the endoplasmic reticulum and Golgi
Hidenori Hirose, Kohei Arasaki, Naoshi Dohmae, Koji Takio, Kiyotaka Hatsuzawa, Masami Nagahama, Katsuko Tani, Akitsugu Yamamoto, Masaya Tohyama, Mitsuo Tagaya
EMBO J. 2004 Mar 24; 23(6): 1267–1278. Published online 2004 Mar 18. doi: 10.1038/sj.emboj.7600135
PMCID:
PMC381410
AbstractArticlePDF–648K
14.
DHX34 and NBAS form part of an autoregulatory NMD circuit that regulates endogenous RNA targets in human cells, zebrafish and Caenorhabditis elegans
Dasa Longman, Nele Hug, Marianne Keith, Corina Anastasaki, E. Elizabeth Patton, Graeme Grimes, Javier F. Cáceres
Nucleic Acids Res. 2013 Sep; 41(17): 8319–8331. Published online 2013 Jul 4. doi: 10.1093/nar/gkt585
PMCID:
PMC3783168
AbstractArticlePDF–3.0M
15.
The interactome of metabolic enzyme carbonic anhydrase IX reveals novel roles in tumor cell migration and invadopodia/MMP14-mediated invasion
M Swayampakula, P C McDonald, M Vallejo, E Coyaud, S C Chafe, A Westerback, G Venkateswaran, J Shankar, G Gao, E M N Laurent, Y Lou, K L Bennewith, C T Supuran, I R Nabi, B Raught, S Dedhar
Oncogene. 2017 Nov 9; 36(45): 6244–6261. Published online 2017 Jul 10. doi: 10.1038/onc.2017.219
PMCID:
PMC5684442
AbstractArticlePDF–4.4M
16.
LRRC31 inhibits DNA repair and sensitizes breast cancer brain metastasis to radiation therapy
Yanke Chen, Ting Jiang, Hongyi Zhang, Xingchun Gou, Cong Han, Jianhui Wang, Ann T. Chen, Jun Ma, Jun Liu, Zeming Chen, Xintao Jing, Hong Lei, Zhenzhen Wang, Youmei Bao, Mehdi Baqri, Yong Zhu, Ranjit S. Bindra, James E. Hansen, Jun Dou, Chen Huang, Jiangbing Zhou
Nat Cell Biol. Author manuscript; available in PMC 2021 Apr 1.
Published in final edited form as: Nat Cell Biol. 2020 Oct; 22(10): 1276–1285. Published online 2020 Oct 1. doi: 10.1038/s41556-020-00586-6
PMCID:
PMC7962994
AbstractArticlePDF–5.5M
17.
The Functional Landscape of Hsp27 Reveals New Cellular Processes such as DNA Repair and Alternative Splicing and Proposes Novel Anticancer Targets
Maria Katsogiannou, Claudia Andrieu, Virginie Baylot, Anaïs Baudot, Nelson J. Dusetti, Odile Gayet, Pascal Finetti, Carmen Garrido, Daniel Birnbaum, François Bertucci, Christine Brun, Palma Rocchi
Mol Cell Proteomics. 2014 Dec; 13(12): 3585–3601. Published online 2014 Oct 1. doi: 10.1074/mcp.M114.041228
PMCID:
PMC4256507
AbstractArticlePDF–3.9M
18.
Proteomic and Biochemical Comparison of the Cellular Interaction Partners of Human VPS33A and VPS33B
Morag R. Hunter, Geoffrey G. Hesketh, Tomasz H. Benedyk, Anne-Claude Gingras, Stephen C. Graham
J Mol Biol. 2018 Jul 6; 430(14): 2153–2163. doi: 10.1016/j.jmb.2018.05.019
PMCID:
PMC6005816
AbstractArticlePDF–1.6M
19.
ESYT1 tethers the ER to mitochondria and is required for mitochondrial lipid and calcium homeostasis
Alexandre Janer, Jordan L Morris, Michiel Krols, Hana Antonicka, Mari J Aaltonen, Zhen-Yuan Lin, Hanish Anand, Anne-Claude Gingras, Julien Prudent, Eric A Shoubridge
Life Sci Alliance. 2024 Jan; 7(1): e202302335. Published online 2023 Nov 6. doi: 10.26508/lsa.202302335
PMCID:
PMC10627786
AbstractArticlePDF–5.2M
20.
Quantitative Proteomics Links the LRRC59 Interactome to mRNA Translation on the ER Membrane
Molly M. Hannigan, Alyson M. Hoffman, J. Will Thompson, Tianli Zheng, Christopher V. Nicchitta
Mol Cell Proteomics. 2020 Nov; 19(11): 1826–1849. Published online 2020 Aug 10. doi: 10.1074/mcp.RA120.002228
PMCID:
PMC7664120
AbstractArticlePDF–4.8M

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