PMC Links for Nucleotide (Select 1519244769) - PMC

Select item 61448171.

Crystal structure of dimeric human PNPase reveals why disease-linked mutants suffer from low RNA import and degradation activities

Bagher Golzarroshan, Chia-Liang Lin, Chia-Lung Li, Wei-Zen Yang, Lee-Ya Chu, Sashank Agrawal, Hanna S Yuan

Nucleic Acids Res. 2018 Sep 19; 46(16): 8630–8640. Published online 2018 Jul 18. doi: 10.1093/nar/gky642

PMCID:: PMC6144817

Article PDF–8.5M

Select item 60283892.

Dedicated surveillance mechanism controls G-quadruplex forming non-coding RNAs in human mitochondria

Zbigniew Pietras, Magdalena A. Wojcik, Lukasz S. Borowski, Maciej Szewczyk, Tomasz M. Kulinski, Dominik Cysewski, Piotr P. Stepien, Andrzej Dziembowski, Roman J. Szczesny

Nat Commun. 2018; 9: 2558. Published online 2018 Jul 2. doi: 10.1038/s41467-018-05007-9

PMCID:: PMC6028389

Article PDF–3.3M

Select item 34871363.

Mutation in PNPT1, which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency

Vanessa Vedrenne, Ali Gowher, Pascale De Lonlay, Patrick Nitschke, Valérie Serre, Nathalie Boddaert, Cecilia Altuzarra, Anne-Marie Mager-Heckel, Florence Chretien, Nina Entelis, Arnold Munnich, Ivan Tarassov, Agnès Rötig

Am J Hum Genet. 2012 Nov 2; 91(5): 912–918. doi: 10.1016/j.ajhg.2012.09.001

PMCID:: PMC3487136

Article PDF–748K

Select item 34871234.

A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss

Simon von Ameln, Geng Wang, Redouane Boulouiz, Mark A. Rutherford, Geoffrey M. Smith, Yun Li, Hans-Martin Pogoda, Gudrun Nürnberg, Barbara Stiller, Alexander E. Volk, Guntram Borck, Jason S. Hong, Richard J. Goodyear, Omar Abidi, Peter Nürnberg, Kay Hofmann, Guy P. Richardson, Matthias Hammerschmidt, Tobias Moser, Bernd Wollnik, Carla M. Koehler, Michael A. Teitell, Abdelhamid Barakat, Christian Kubisch

Am J Hum Genet. 2012 Nov 2; 91(5): 919–927. doi: 10.1016/j.ajhg.2012.09.002

PMCID:: PMC3487123

Article PDF–1.1M

Select item 1391965.

Identification and cloning of human polynucleotide phosphorylase, hPNPase^old-35, in the context of terminal differentiation and cellular senescence

Magdalena Leszczyniecka, Dong-chul Kang, Devanand Sarkar, Zao-zhong Su, Matthew Holmes, Kristoffer Valerie, Paul B. Fisher

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16636–16641. Published online 2002 Dec 9. doi: 10.1073/pnas.252643699

PMCID:: PMC139196

Article PDF–396K

Select item 68365506.

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

Anna Lindstrand, Jesper Eisfeldt, Maria Pettersson, Claudia M. B. Carvalho, Malin Kvarnung, Giedre Grigelioniene, Britt-Marie Anderlid, Olof Bjerin, Peter Gustavsson, Anna Hammarsjö, Patrik Georgii-Hemming, Erik Iwarsson, Maria Johansson-Soller, Kristina Lagerstedt-Robinson, Agne Lieden, Måns Magnusson, Marcel Martin, Helena Malmgren, Magnus Nordenskjöld, Ameli Norling, Ellika Sahlin, Henrik Stranneheim, Emma Tham, Josephine Wincent, Sofia Ygberg, Anna Wedell, Valtteri Wirta, Ann Nordgren, Johanna Lundin, Daniel Nilsson

Genome Med. 2019; 11: 68. Published online 2019 Nov 7. doi: 10.1186/s13073-019-0675-1

PMCID:: PMC6836550

Article PDF–2.5M

Select item 66687907.

Defects of mitochondrial RNA turnover lead to the accumulation of double-stranded RNA in vivo

Aleksandra Pajak, Isabelle Laine, Paula Clemente, Najla El-Fissi, Florian A. Schober, Camilla Maffezzini, Javier Calvo-Garrido, Rolf Wibom, Roberta Filograna, Ashish Dhir, Anna Wedell, Christoph Freyer, Anna Wredenberg

PLoS Genet. 2019 Jul; 15(7): e1008240. Published online 2019 Jul 31. doi: 10.1371/journal.pgen.1008240

PMCID:: PMC6668790

Article PDF–2.6M

Select item 65365928.

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy

Michelle Demos, Ilaria Guella, Conrado DeGuzman, Marna B. McKenzie, Sarah E. Buerki, Daniel M. Evans, Eric B. Toyota, Cyrus Boelman, Linda L. Huh, Anita Datta, Aspasia Michoulas, Kathryn Selby, Bruce H. Bjornson, Gabriella Horvath, Elena Lopez-Rangel, Clara D. M. van Karnebeek, Ramona Salvarinova, Erin Slade, Patrice Eydoux, Shelin Adam, Margot I. Van Allen, Tanya N. Nelson, Corneliu Bolbocean, Mary B. Connolly, Matthew J. Farrer

Front Neurol. 2019; 10: 434. Published online 2019 May 21. doi: 10.3389/fneur.2019.00434

PMCID:: PMC6536592

Article PDF–405K

Select item 43421839.

Hsa-microRNA-181a is a regulator of a number of cancer genes and a biomarker for endometrial carcinoma in patients: a bioinformatic and clinical study and the therapeutic implication

Shuming He, Shumei Zeng, Zhi-Wei Zhou, Zhi-Xu He, Shu-Feng Zhou

Drug Des Devel Ther. 2015; 9: 1103–1175. Published online 2015 Feb 18. doi: 10.2147/DDDT.S73551

PMCID:: PMC4342183

Article PDF–16M

Select item 420865210.

Epigenetic heredity of human height

Pasquale Simeone, Saverio Alberti

Physiol Rep. 2014 Jun; 2(6): e12047. Published online 2014 Jun 24. doi: 10.14814/phy2.12047

PMCID:: PMC4208652

Article PDF–759K

Select item 419617511.

A generic cycling hypoxia-derived prognostic gene signature: application to breast cancer profiling

Romain Boidot, Samuel Branders, Thibault Helleputte, Laila Illan Rubio, Pierre Dupont, Olivier Feron

Oncotarget. 2014 Aug; 5(16): 6947–6963. Published online 2014 Jul 31. doi: 10.18632/oncotarget.2285

PMCID:: PMC4196175

Article PDF–1.5M

Select item 394738012.

Parainflammation associated with advanced glycation endproduct stimulation of RPE in vitro: Implications for age-related degenerative diseases of the eye

Tony Lin, Gregory Brett Walker, Khaliq Kurji, Edward Fang, Geoffrey Law, Shiv S. Prasad, Luba Kojic, Sijia Cao, Valerie White, Jing Z. Cui, Joanne A. Matsubara

Cytokine. Author manuscript; available in PMC 2014 Mar 9.

Published in final edited form as: Cytokine. 2013 Jun; 62(3): 369–381. Published online 2013 Apr 17. doi: 10.1016/j.cyto.2013.03.027

PMCID:: PMC3947380

Article PDF–1.2M

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