PMC Links for Protein (Select 269954694) - PMC

Select item 66156311.

Profound analgesia is associated with a truncated peptide resulting from tissue specific alternative splicing of DRG CA8-204 regulated by an exon-level cis-eQTL

Udita Upadhyay, Gerald Z. Zhuang, Luda Diatchenko, Marc Parisien, Yuan Kang, Konstantinos D. Sarantopoulos, Eden R. Martin, Shad B. Smith, William Maixner, Roy C. Levitt

PLoS Genet. 2019 Jun; 15(6): e1008226. Published online 2019 Jun 14. doi: 10.1371/journal.pgen.1008226

PMCID:: PMC6615631

Abstract Article PDF–1.9M

Select item 64718682.

Ai-lncRNA EGOT enhancing autophagy sensitizes paclitaxel cytotoxicity via upregulation of ITPR1 expression by RNA-RNA and RNA-protein interactions in human cancer

Shouping Xu, Peiyuan Wang, Jian Zhang, Hao Wu, Shiyao Sui, Jinfeng Zhang, Qin Wang, Kun Qiao, Weiwei Yang, Hongbiao Xu, Da Pang

Mol Cancer. 2019; 18: 89. Published online 2019 Apr 18. doi: 10.1186/s12943-019-1017-z

PMCID:: PMC6471868

Abstract Article PDF–6.8M

Select item 64497113.

G-Protein-Coupled Receptor 120 Mediates DHA-Induced Apoptosis by Regulating IP3R, ROS and, ER Stress Levels in Cisplatin-Resistant Cancer Cells

Jong-Il Shin, Yong-Joon Jeon, Sol Lee, Yoon Gyeong Lee, Ji Beom Kim, Kyungho Lee

Mol Cells. 2019 Mar 31; 42(3): 252–261. Published online 2019 Feb 13. doi: 10.14348/molcells.2019.2440

PMCID:: PMC6449711

Abstract Article PDF–1.3M

Select item 63025504.

IP₃ Receptors Preferentially Associate with ER-Lysosome Contact Sites and Selectively Deliver Ca²⁺ to Lysosomes

Peace Atakpa, Nagendra Babu Thillaiappan, Stefania Mataragka, David L. Prole, Colin W. Taylor

Cell Rep. 2018 Dec 11; 25(11): 3180–3193.e7. Published online 2018 Dec 11. doi: 10.1016/j.celrep.2018.11.064

PMCID:: PMC6302550

Abstract Article PDF–5.5M

Select item 27545765.

Cloning and Characterization of the Type I Inositol 1,4,5-Trisphosphate Receptor Gene Promoter: REGULATION BY 17β-ESTRADIOL IN OSTEOBLASTS

Keith L. Kirkwood, Kristen Homick, Marc B. Dragon, Peter G. Bradford

J Biol Chem. Author manuscript; available in PMC 2009 Sep 30.

Published in final edited form as: J Biol Chem. 1997 Sep 5; 272(36): 22425–22431. doi: 10.1074/jbc.272.36.22425

PMCID:: PMC2754576

Abstract Article PDF–1.5M

Select item 64118336.

Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes

Ewelina Elert-Dobkowska, Iwona Stepniak, Wioletta Krysa, Karolina Ziora-Jakutowicz, Maria Rakowicz, Anna Sobanska, Jacek Pilch, Dorota Antczak-Marach, Jacek Zaremba, Anna Sulek

Neurogenetics. 2019; 20(1): 27–38. Published online 2019 Feb 19. doi: 10.1007/s10048-019-00565-6

PMCID:: PMC6411833

Abstract Article PDF–772K

Select item 57067507.

Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias

Cheng-Tsung Hsiao, Yo-Tsen Liu, Yi-Chu Liao, Ting-Yi Hsu, Yi-Chung Lee, Bing-Wen Soong

PLoS One. 2017; 12(11): e0187503. Published online 2017 Nov 29. doi: 10.1371/journal.pone.0187503

Correction in:: PLoS One. 2018; 13(2): e0192866.

PMCID:: PMC5706750

Abstract Article PDF–3.5M

Select item 56073528.

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome

Maria Lisa Dentici, Sabina Barresi, Marta Nardella, Emanuele Bellacchio, Paolo Alfieri, Alessandro Bruselles, Francesca Pantaleoni, Alberto Danieli, Giancarlo Iarossi, Marco Cappa, Enrico Bertini, Marco Tartaglia, Ginevra Zanni

Gene. 2017 Sep 10; 628: 141–145. doi: 10.1016/j.gene.2017.07.017

PMCID:: PMC5607352

Abstract Article

Select item 55399159.

Hotspots of missense mutation identify novel neurodevelopmental disorder genes and functional domains

Madeleine R. Geisheker, Gabriel Heymann, Tianyun Wang, Bradley P. Coe, Tychele N. Turner, Holly A.F. Stessman, Kendra Hoekzema, Malin Kvarnung, Marie Shaw, Kathryn Friend, Jan Liebelt, Christopher Barnett, Elizabeth M. Thompson, Eric Haan, Hui Guo, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand, Geert Vandeweyer, Antonino Alberti, Emanuela Avola, Mirella Vinci, Stefania Giusto, Tiziano Pramparo, Karen Pierce, Srinivasa Nalabolu, Jacob J. Michaelson, Zdenek Sedlacek, Gijs W.E. Santen, Hilde Peeters, Hakon Hakonarson, Eric Courchesne, Corrado Romano, R. Frank Kooy, Raphael A. Bernier, Magnus Nordenskjöld, Jozef Gecz, Kun Xia, Larry S. Zweifel, Evan E. Eichler

Nat Neurosci. Author manuscript; available in PMC 2017 Dec 19.

Published in final edited form as: Nat Neurosci. 2017 Aug; 20(8): 1043–1051. Published online 2017 Jun 19. doi: 10.1038/nn.4589

PMCID:: PMC5539915

Abstract Article PDF–1.5M

Select item 486366310.

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

Meriel McEntagart, Kathleen A. Williamson, Jacqueline K. Rainger, Ann Wheeler, Anne Seawright, Elfride De Baere, Hannah Verdin, L. Therese Bergendahl, Alan Quigley, Joe Rainger, Abhijit Dixit, Ajoy Sarkar, Eduardo López Laso, Rocio Sanchez-Carpintero, Jesus Barrio, Pierre Bitoun, Trine Prescott, Ruth Riise, Shane McKee, Jackie Cook, Lisa McKie, Berten Ceulemans, Françoise Meire, I. Karen Temple, Fabienne Prieur, Jonathan Williams, Penny Clouston, Andrea H. Németh, Siddharth Banka, Hemant Bengani, Mark Handley, Elisabeth Freyer, Allyson Ross, DDD Study, Veronica van Heyningen, Joseph A. Marsh, Frances Elmslie, David R. FitzPatrick

Am J Hum Genet. 2016 May 5; 98(5): 981–992. Published online 2016 Apr 21. doi: 10.1016/j.ajhg.2016.03.018

PMCID:: PMC4863663

Abstract Article PDF–2.0M

Select item 420402911.

Comparative characterization of two intracellular Ca²⁺-release channels from the red flour beetle, Tribolium castaneum

Yaping Liu, Chengjun Li, Jingkun Gao, Wenlong Wang, Li Huang, Xuezhu Guo, Bin Li, Jianjun Wang

Sci Rep. 2014; 4: 6702. Published online 2014 Oct 21. doi: 10.1038/srep06702

PMCID:: PMC4204029

Abstract Article PDF–3.0M

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