PMC Links for Nucleotide (Select 1813324322) - PMC

Select item 67426461.

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu

Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3

PMCID:: PMC6742646

Abstract Article PDF–1.2M

Select item 66196042.

Progranulin deficiency leads to reduced glucocerebrosidase activity

Xiaolai Zhou, Daniel H. Paushter, Mitchell D. Pagan, Dongsung Kim, Mariela Nunez Santos, Raquel L. Lieberman, Herman S. Overkleeft, Ying Sun, Marcus B. Smolka, Fenghua Hu

PLoS One. 2019; 14(7): e0212382. Published online 2019 Jul 10. doi: 10.1371/journal.pone.0212382

PMCID:: PMC6619604

Abstract Article PDF–2.5M

Select item 64389923.

Thalamo-cortical network hyperconnectivity in preclinical progranulin mutation carriers

Suzee E. Lee, Ana C. Sias, Eena L. Kosik, Taru M. Flagan, Jersey Deng, Stephanie A. Chu, Jesse A. Brown, Anna A. Vidovszky, Eliana Marisa Ramos, Maria Luisa Gorno-Tempini, Anna M. Karydas, Giovanni Coppola, Daniel H. Geschwind, Rosa Rademakers, Bradley F. Boeve, Adam L. Boxer, Howard J. Rosen, Bruce L. Miller, William W. Seeley

Neuroimage Clin. 2019; 22: 101751. Published online 2019 Mar 16. doi: 10.1016/j.nicl.2019.101751

PMCID:: PMC6438992

Abstract Article PDF–2.5M

Select item 41621884.

Progranulin Transcripts with Short and Long 5′ Untranslated Regions (UTRs) Are Differentially Expressed via Posttranscriptional and Translational Repression

Anja Capell, Katrin Fellerer, Christian Haass

J Biol Chem. 2014 Sep 12; 289(37): 25879–25889. Published online 2014 Jul 23. doi: 10.1074/jbc.M114.560128

PMCID:: PMC4162188

Abstract Article PDF–2.3M

Select item 485235.

Isolation and sequence of the granulin precursor cDNA from human bone marrow reveals tandem cysteine-rich granulin domains.

V Bhandari, R G Palfree, A Bateman

Proc Natl Acad Sci U S A. 1992 Mar 1; 89(5): 1715–1719. doi: 10.1073/pnas.89.5.1715

PMCID:: PMC48523

Summary Page Browse PDF–1.1M

Select item 65538756.

Frontotemporal dementia spectrum: first genetic screen in a Greek cohort

Eliana Marisa Ramos, Christos Koros, Deepika Reddy Dokuru, Victoria Van Berlo, Christos Kroupis, Kevin Wojta, Qing Wang, Nikolaos Andronas, Stavroula Matsi, Ion N. Beratis, Alden Y. Huang, Suzee E. Lee, Anastasios Bonakis, Chryseis Florou-Hatziyiannidou, Stella Fragkiadaki, Dionysia Kontaxopoulou, Dimitrios Agiomyrgiannakis, Vasiliki Kamtsadeli, Niki Tsinia, Vasiliki Papastefanopoulou, Maria Stamelou, Bruce L. Miller, Leonidas Stefanis, John D. Papatriantafyllou, Sokratis G. Papageorgiou, Giovanni Coppola

Neurobiol Aging. Author manuscript; available in PMC 2020 Mar 1.

Published in final edited form as: Neurobiol Aging. 2019 Mar; 75: 224.e1–224.e8. Published online 2018 Nov 3. doi: 10.1016/j.neurobiolaging.2018.10.029

PMCID:: PMC6553875

Abstract Article PDF–170K

Select item 60652987.

The Whole Exome Sequencing Clarifies the Genotype- Phenotype Correlations in Patients with Early-Onset Dementia

Yangqi Xu, Xiaoli Liu, Junyi Shen, Wotu Tian, Rong Fang, Binyin Li, Jianfang Ma, Li Cao, Shengdi Chen, Guanjun Li, Huidong Tang

Aging Dis. 2018 Aug; 9(4): 696–705. Published online 2018 Aug 1. doi: 10.14336/AD.2018.0208

PMCID:: PMC6065298

Abstract Article PDF–676K

Select item 58485868.

Deregulated microRNA and mRNA expression profiles in the peripheral blood of patients with Marfan syndrome

Masood Abu-Halima, Mustafa Kahraman, Dominic Henn, Tanja Rädle-Hurst, Andreas Keller, Hashim Abdul-Khaliq, Eckart Meese

J Transl Med. 2018; 16: 60. Published online 2018 Mar 12. doi: 10.1186/s12967-018-1429-3

PMCID:: PMC5848586

Abstract Article PDF–1.0M

Select item 54713409.

Mahroo Mofarrahi, Ioanna Sigala, Theodoros Vassilakopoulos, Sharon Harel, Yeting Guo, Richard Debigare, Francois Maltais, Sabah N. A. Hussain

J Appl Physiol (1985) 2013 May 1; 114(9): 1309–1318. Published online 2013 Jan 10. doi: 10.1152/japplphysiol.00954.2012

PMCID:: PMC5471340

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