PMC Links for Nucleotide (Select 1519316444) - PMC

Select item 61980611.

Dynamic Formation of Microvillus Inclusions During Enterocyte Differentiation in Munc18-2–Deficient Intestinal Organoids

Mohammed H. Mosa, Ophélie Nicolle, Sophia Maschalidi, Fernando E. Sepulveda, Aurelien Bidaud-Meynard, Constantin Menche, Birgitta E. Michels, Grégoire Michaux, Geneviève de Saint Basile, Henner F. Farin

Cell Mol Gastroenterol Hepatol. 2018; 6(4): 477–493.e1. Published online 2018 Aug 14. doi: 10.1016/j.jcmgh.2018.08.001

PMCID:: PMC6198061

Abstract Article PDF–8.8M

Select item 58627912.

Bi-Allelic Mutations in STXBP2 Reveal a Complementary Role for STXBP1 in Cytotoxic Lymphocyte Killing

Jamie A. Lopez, Tahereh Noori, Adrian Minson, Lu Li Jovanoska, Kevin Thia, Michael S. Hildebrand, Hedieh Akhlaghi, Phillip K. Darcy, Michael H. Kershaw, Natasha J. Brown, Andrew Grigg, Joseph A. Trapani, Ilia Voskoboinik

Front Immunol. 2018; 9: 529. Published online 2018 Mar 15. doi: 10.3389/fimmu.2018.00529

PMCID:: PMC5862791

Abstract Article PDF–1.9M

Select item 54745083.

Munc18b Increases Insulin Granule Fusion, Restoring Deficient Insulin Secretion in Type-2 Diabetes Human and Goto-Kakizaki Rat Islets with Improvement in Glucose Homeostasis

Tairan Qin, Tao Liang, Dan Zhu, Youhou Kang, Li Xie, Subhankar Dolai, Shuzo Sugita, Noriko Takahashi, Claes-Goran Ostenson, Kate Banks, Herbert Y. Gaisano

EBioMedicine. 2017 Feb; 16: 262–274. Published online 2017 Jan 22. doi: 10.1016/j.ebiom.2017.01.030

PMCID:: PMC5474508

Abstract Article PDF–1.8M

Select item 54648874.

Identification of STXBP2 as a novel susceptibility locus for myocardial infarction in Japanese individuals by an exome-wide association study

Yoshiji Yamada, Jun Sakuma, Ichiro Takeuchi, Yoshiki Yasukochi, Kimihiko Kato, Mitsutoshi Oguri, Tetsuo Fujimaki, Hideki Horibe, Masaaki Muramatsu, Motoji Sawabe, Yoshinori Fujiwara, Yu Taniguchi, Shuichi Obuchi, Hisashi Kawai, Shoji Shinkai, Seijiro Mori, Tomio Arai, Masashi Tanaka

Oncotarget. 2017 May 16; 8(20): 33527–33535. Published online 2017 Mar 23. doi: 10.18632/oncotarget.16536

PMCID:: PMC5464887

Abstract Article PDF–1.5M

Select item 68242235.

Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation

Dara McCreary, Ebun Omoyinmi, Ying Hong, Ciara Mulhern, Charalampia Papadopoulou, Marina Casimir, Yael Hacohen, Rodney Nyanhete, Helena Ahlfors, Thomas Cullup, Ming Lim, Kimberly Gilmour, Kshitij Mankad, Evangeline Wassmer, Stefan Berg, Cheryl Hemingway, Paul Brogan, Despina Eleftheriou

JAMA Netw Open. 2019 Oct; 2(10): e1914274. Published online 2019 Oct 30. doi: 10.1001/jamanetworkopen.2019.14274

PMCID:: PMC6824223

Abstract Article

Select item 64162226.

Pathogenic Gene Mutations or Variants Identified by Targeted Gene Sequencing in Adults With Hemophagocytic Lymphohistiocytosis

Yi Miao, Hua-Yuan Zhu, Chun Qiao, Yi Xia, Yiling Kong, Yi-Xin Zou, Yu-Qing Miao, Xiao Chen, Lei Cao, Wei Wu, Jin-Hua Liang, Jia-Zhu Wu, Li Wang, Lei Fan, Wei Xu, Jian-Yong Li

Front Immunol. 2019; 10: 395. Published online 2019 Mar 7. doi: 10.3389/fimmu.2019.00395

PMCID:: PMC6416222

Abstract Article PDF–1.1M

Select item 63799987.

Novel mutations of STXBP2 and LYST associated with adult haemophagocytic lymphohistiocytosis with Epstein-Barr virus infection: a case report

Lingshuang Sheng, Wei Zhang, Jia Gu, Kefeng Shen, Hui Luo, Yang Yang

BMC Med Genet. 2019; 20: 34. Published online 2019 Feb 19. doi: 10.1186/s12881-019-0765-3

PMCID:: PMC6379998

Abstract Article PDF–1.4M

Select item 63217398.

Expression Profile of Diabetes-Related Genes Associated with Leukocyte Sirtuin 1 Overexpression in Gestational Diabetes

Katarzyna Mac-Marcjanek, Andrzej Zieleniak, Monika Zurawska-Klis, Katarzyna Cypryk, Lucyna Wozniak, Marzena Wojcik

Int J Mol Sci. 2018 Dec; 19(12): 3826. Published online 2018 Nov 30. doi: 10.3390/ijms19123826

PMCID:: PMC6321739

Abstract Article PDF–1.9M

Select item 41215789.

Interleukin-1β mediates macrophage-induced impairment of insulin signaling in human primary adipocytes

Dan Gao, Mohamed Madi, Cherlyn Ding, Matthew Fok, Thomas Steele, Christopher Ford, Leif Hunter, Chen Bing

Am J Physiol Endocrinol Metab. 2014 Aug 1; 307(3): E289–E304. Published online 2014 Jun 10. doi: 10.1152/ajpendo.00430.2013

PMCID:: PMC4121578

Abstract Article

Select item 350269410.

Transcriptomic Analysis of Postmortem Brain identifies Dysregulated Splicing Events in Novel Candidate Genes for Schizophrenia

Ori S. Cohen, Sarah Y. Mccoy, Frank A. Middleton, Sean Bialosuknia, Yanli Zhang-James, Lu Liu, Ming T. Tsuang, Stephen V. Faraone, Stephen J. Glatt

Schizophr Res. Author manuscript; available in PMC 2013 Dec 1.

Published in final edited form as: Schizophr Res. 2012 Dec; 142(1-3): 188–199. Published online 2012 Oct 9. doi: 10.1016/j.schres.2012.09.015

PMCID:: PMC3502694

Abstract Article PDF–678K

Select item 308386411.

Alternatively Spliced Genes as Biomarkers for Schizophrenia, Bipolar Disorder and Psychosis: A Blood-Based Spliceome-Profiling Exploratory Study

S.J. Glatt, S.D. Chandler, C.A. Bousman, G. Chana, G.R. Lucero, E. Tatro, T. May, J.B. Lohr, W.S. Kremen, I.P. Everall, M.T. Tsuang

Curr Pharmacogenomics Person Med. Author manuscript; available in PMC 2011 Apr 28.

Published in final edited form as: Curr Pharmacogenomics Person Med. 2009 Sep; 7(3): 164–188. doi: 10.2174/1875692110907030164

PMCID:: PMC3083864

Abstract Article PDF–514K

Select item 278681012.

Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells

Marjorie Côte, Mickaël M. Ménager, Agathe Burgess, Nizar Mahlaoui, Capucine Picard, Catherine Schaffner, Fahad Al-Manjomi, Musa Al-Harbi, Abdullah Alangari, Françoise Le Deist, Andrew R. Gennery, Nathalie Prince, Astrid Cariou, Patrick Nitschke, Ulrich Blank, Gehad El-Ghazali, Gaël Ménasché, Sylvain Latour, Alain Fischer, Geneviève de Saint Basile

J Clin Invest. 2009 Dec 1; 119(12): 3765–3773. Published online 2009 Nov 2. doi: 10.1172/JCI40732

PMCID:: PMC2786810

Abstract Article PDF–1.7M

Select item 171324013.

Whole blood gene expression in infants with respiratory syncytial virus bronchiolitis

Hans-Olav Fjaerli, Geir Bukholm, Anne Krog, Camilla Skjaeret, Marit Holden, Britt Nakstad

BMC Infect Dis. 2006; 6: 175. Published online 2006 Dec 13. doi: 10.1186/1471-2334-6-175

PMCID:: PMC1713240

Abstract Article PDF–283K

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