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Items: 1 to 20 of 29

1.
腺嘌呤碱基编辑器纠正人胚胎G6PC3基因致病突变
洪 嫚, 王 萍, 上官 陶, 李 广磊, 边 瑞鹏, 何 畏, 江 雯, 陈 洁平
Zhonghua Xue Ye Xue Za Zhi. 2023 Apr; 44(4): 308–315. Chinese. doi: 10.3760/cma.j.issn.0253-2727.2023.04.008
PMCID:
PMC10282874
AbstractArticlePDF–1.6M
2.
TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing
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
AbstractArticlePDF–23M
3.
G6PC indicated poor prognosis in cervical cancer and promoted cervical carcinogenesis in vitro and in vivo
Kun Zhu, Chunling Deng, Pan Du, Taorui Liu, Junjie Piao, Yingshi Piao, Meng Yang, Liyan Chen
Reprod Biol Endocrinol. 2022; 20: 50. Published online 2022 Mar 11. doi: 10.1186/s12958-022-00921-6
PMCID:
PMC8915493
AbstractArticlePDF–3.0M
4.
The proximal proteome of 17 SARS-CoV-2 proteins links to disrupted antiviral signaling and host translation
Jordan M. Meyers, Muthukumar Ramanathan, Ronald L. Shanderson, Aimee Beck, Laura Donohue, Ian Ferguson, Margaret G. Guo, Deepti S. Rao, Weili Miao, David Reynolds, Xue Yang, Yang Zhao, Yen-Yu Yang, Catherine Blish, Yinsheng Wang, Paul A. Khavari
PLoS Pathog. 2021 Oct; 17(10): e1009412. Published online 2021 Oct 1. doi: 10.1371/journal.ppat.1009412
PMCID:
PMC8513853
AbstractArticlePDF–4.1M
5.
CNKSR1 serves as a scaffold to activate an EGFR phosphatase via exclusive interaction with RhoB-GTP
Kanako Nishiyama, Masashi Maekawa, Tomoya Nakagita, Jun Nakayama, Takeshi Kiyoi, Mami Chosei, Akari Murakami, Yoshiaki Kamei, Hiroyuki Takeda, Yasutsugu Takada, Shigeki Higashiyama
Life Sci Alliance. 2021 Sep; 4(9): e202101095. Published online 2021 Jun 29. doi: 10.26508/lsa.202101095
PMCID:
PMC8321701
AbstractArticlePDF–4.8M
6.
Altered Functions of Neutrophils in Two Chinese Patients With Severe Congenital Neutropenia Type 4 Caused by G6PC3 Mutations
Rongxin Dai, Ge Lv, Wenyan Li, Wenjing Tang, Junjie Chen, Qiao Liu, Lu Yang, Min Zhang, Zhirui Tian, Lina Zhou, Xin Yan, Yating Wang, Yuan Ding, Yunfei An, Zhiyong Zhang, Xuemei Tang, Xiaodong Zhao
Front Immunol. 2021; 12: 699743. Published online 2021 Jul 8. doi: 10.3389/fimmu.2021.699743
PMCID:
PMC8296982
AbstractArticlePDF–2.8M
7.
The Transplantation Resistance of Type II Diabetes Mellitus Adipose-Derived Stem Cells Is Due to G6PC and IGF1 Genes Related to the FoxO Signaling Pathway
Michiko Horiguchi, Yuya Turudome, Kentaro Ushijima
Int J Mol Sci. 2021 Jun; 22(12): 6595. Published online 2021 Jun 19. doi: 10.3390/ijms22126595
PMCID:
PMC8235161
AbstractArticlePDF–3.6M
8.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
9.
Deciphering Biochemical and Molecular Signatures Associated with Obesity in Context of Metabolic Health
Daisy Masih, Jitendra Kumar Tripathi, Gurseen Rakhra, Annu Vats, Saroj Kumar Verma, Prabhash Kumar Jha, Manish Sharma, Mohammad Zahid Ashraf, Som Nath Singh
Genes (Basel) 2021 Feb; 12(2): 290. Published online 2021 Feb 19. doi: 10.3390/genes12020290
PMCID:
PMC7923210
AbstractArticlePDF–2.7M
10.
Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency
Maria Veiga-da-Cunha, Nathalie Chevalier, Xavier Stephenne, Jean-Philippe Defour, Nicole Paczia, Alina Ferster, Younes Achouri, Joseph P. Dewulf, Carole L. Linster, Guido T. Bommer, Emile Van Schaftingen
Proc Natl Acad Sci U S A. 2019 Jan 22; 116(4): 1241–1250. Published online 2019 Jan 9. doi: 10.1073/pnas.1816143116
PMCID:
PMC6347702
AbstractArticlePDF–1.6M
11.
BAP1 regulation of the key adaptor protein NCoR1 is critical for γ-globin gene repression
Lei Yu, Natee Jearawiriyapaisarn, Mary P. Lee, Tomonori Hosoya, Qingqing Wu, Greggory Myers, Kim-Chew Lim, Ryo Kurita, Yukio Nakamura, Anne B. Vojtek, Jean-François Rual, James Douglas Engel
Genes Dev. 2018 Dec 1; 32(23-24): 1537–1549. doi: 10.1101/gad.318436.118
PMCID:
PMC6295165
AbstractArticlePDF–3.5M
12.
Systematic protein–protein interaction mapping for clinically relevant human GPCRs
Kate Sokolina, Saranya Kittanakom, Jamie Snider, Max Kotlyar, Pascal Maurice, Jorge Gandía, Abla Benleulmi‐Chaachoua, Kenjiro Tadagaki, Atsuro Oishi, Victoria Wong, Ramy H Malty, Viktor Deineko, Hiroyuki Aoki, Shahreen Amin, Zhong Yao, Xavier Morató, David Otasek, Hiroyuki Kobayashi, Javier Menendez, Daniel Auerbach, Stephane Angers, Natasa Pržulj, Michel Bouvier, Mohan Babu, Francisco Ciruela, Ralf Jockers, Igor Jurisica, Igor Stagljar
Mol Syst Biol. 2017 Mar; 13(3): 918. Published online 2017 Mar 15. doi: 10.15252/msb.20167430
PMCID:
PMC5371730
AbstractArticlePDF–4.1M
13.
G6PC3, ALDOA and CS induction accompanies mir-122 down-regulation in the mechanical asphyxia and can serve as hypoxia biomarkers
Yan Zeng, Yehui Lv, Li Tao, Jianlong Ma, Heng Zhang, Hongmei Xu, Bi Xiao, Qun Shi, Kaijun Ma, Long Chen
Oncotarget. 2016 Nov 15; 7(46): 74526–74536. Published online 2016 Oct 26. doi: 10.18632/oncotarget.12931
PMCID:
PMC5342684
AbstractArticlePDF–2.4M
14.
Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-β deficiency
Su Ru Lin, Chi-Jiunn Pan, Brian C. Mansfield, Janice Yang Chou
Mol Genet Metab. Author manuscript; available in PMC 2016 Mar 17.
Published in final edited form as: Mol Genet Metab. 2015 Jan; 114(1): 41–45. Published online 2014 Nov 26. doi: 10.1016/j.ymgme.2014.11.012
PMCID:
PMC4794745
AbstractArticlePDF–1.3M
15.
Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia
Bradley N. Smith, Catherine Evans, Akbar Ali, Phil J. Ancliff, Bu’Hussain Hayee, Anthony W. Segal, Georgina Hall, Zuhre Kaya, Abdul Rauf Shakoori, David C. Linch, Rosemary E. Gale
Br J Haematol. Author manuscript; available in PMC 2015 Aug 12.
Published in final edited form as: Br J Haematol. 2012 Jul; 158(1): 146–149. Published online 2012 Apr 2. doi: 10.1111/j.1365-2141.2012.09110.x
PMCID:
PMC4533883
ArticlePDF–1.4M
16.
Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry
Claire Desplantes, Marie Louise Fremond, Blandine Beaupain, Jean Luc Harousseau, Agnès Buzyn, Isabelle Pellier, Gaelle Roques, Pierre Morville, Catherine Paillard, Julie Bruneau, Lucile Pinson, Eric Jeziorski, Jean Pierre Vannier, Capucine Picard, Florence Bellanger, Norma Romero, Loïc de Pontual, Hélène Lapillonne, Patrick Lutz, Christine Bellanné Chantelot, Jean Donadieu
Orphanet J Rare Dis. 2014; 9: 183. Published online 2014 Dec 10. doi: 10.1186/s13023-014-0183-8
PMCID:
PMC4279596
AbstractArticlePDF–1.7M
17.
Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations
Lucia Dora Notarangelo, Gianfranco Savoldi, Sara Cavagnini, Veronica Bennato, Sabrina Vasile, Alba Pilotta, Alessandro Plebani, Fulvio Porta
Ital J Pediatr. 2014; 40: 80. Published online 2014 Nov 14. doi: 10.1186/s13052-014-0080-8
PMCID:
PMC4234865
AbstractArticlePDF–378K
18.
A Study Assessing the Association of Glycated Hemoglobin A1C (HbA1C) Associated Variants with HbA1C, Chronic Kidney Disease and Diabetic Retinopathy in Populations of Asian Ancestry
Peng Chen, Rick Twee-Hee Ong, Wan-Ting Tay, Xueling Sim, Mohammad Ali, Haiyan Xu, Chen Suo, Jianjun Liu, Kee-Seng Chia, Eranga Vithana, Terri L. Young, Tin Aung, Wei-Yen Lim, Chiea-Chuen Khor, Ching-Yu Cheng, Tien-Yin Wong, Yik-Ying Teo, E-Shyong Tai
PLoS One. 2013; 8(11): e79767. Published online 2013 Nov 7. doi: 10.1371/journal.pone.0079767
PMCID:
PMC3820602
AbstractArticlePDF–591K
19.
A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations
Siddharth Banka, William G Newman
Orphanet J Rare Dis. 2013; 8: 84. Published online 2013 Jun 13. doi: 10.1186/1750-1172-8-84
PMCID:
PMC3718741
AbstractArticlePDF–3.0M
20.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M

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