PMC Links for Nucleotide (Select 1519245968) - PMC

Select item 55671461.

Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder

Jamal Ghoumid, Florence Petit, Odile Boute-Benejean, Frédéric Frenois, Maryse Cartigny, Clémence Vanlerberghe, Thomas Smol, Roseline Caumes, Nicolas de ROUX, Sylvie Manouvrier-Hanu

Eur J Hum Genet. 2017 Aug; 25(8): 1011–1014. Published online 2017 Jun 7. doi: 10.1038/ejhg.2017.73

PMCID:: PMC5567146

Abstract Article PDF–902K

Select item 32134032.

Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy

Martine Tétreault, Karine Choquet, Simona Orcesi, Davide Tonduti, Umberto Balottin, Martin Teichmann, Sébastien Fribourg, Raphael Schiffmann, Bernard Brais, Adeline Vanderver, Geneviève Bernard

Am J Hum Genet. 2011 Nov 11; 89(5): 652–655. doi: 10.1016/j.ajhg.2011.10.006

PMCID:: PMC3213403

Abstract Article PDF–526K

Select item 32133923.

Mutations in POLR3A and POLR3B Encoding RNA Polymerase III Subunits Cause an Autosomal-Recessive Hypomyelinating Leukoencephalopathy

Hirotomo Saitsu, Hitoshi Osaka, Masayuki Sasaki, Jun-ichi Takanashi, Keisuke Hamada, Akio Yamashita, Hidehiro Shibayama, Masaaki Shiina, Yukiko Kondo, Kiyomi Nishiyama, Yoshinori Tsurusaki, Noriko Miyake, Hiroshi Doi, Kazuhiro Ogata, Ken Inoue, Naomichi Matsumoto

Am J Hum Genet. 2011 Nov 11; 89(5): 644–651. doi: 10.1016/j.ajhg.2011.10.003

PMCID:: PMC3213392

Abstract Article PDF–889K

Select item 1347404.

Characterization of Human RNA Polymerase III Identifies Orthologues for Saccharomyces cerevisiae RNA Polymerase III Subunits

Ping Hu, Si Wu, Yuling Sun, Chih-Chi Yuan, Ryuji Kobayashi, Michael P. Myers, Nouria Hernandez

Mol Cell Biol. 2002 Nov; 22(22): 8044–8055. doi: 10.1128/MCB.22.22.8044-8055.2002

PMCID:: PMC134740

Abstract Article PDF–966K

Select item 64360365.

Induction of sestrin 2 is associated with fisetin-mediated apoptosis in human head and neck cancer cell lines

Dong-Hoon Won, Shin Hye Chung, Ji-Ae Shin, Kyoung-Ok Hong, In-Hyoung Yang, Jun-Won Yun, Sung-Dae Cho

J Clin Biochem Nutr. 2019 Mar; 64(2): 97–105. Published online 2018 Oct 13. doi: 10.3164/jcbn.18-63

PMCID:: PMC6436036

Abstract Article PDF–942K

Select item 46578596.

Candidate genes contributing to the aggressive phenotype of mantle cell lymphoma

Sarah E. Henson, Travis Morford, Mary-Pat Stein, Randolph Wall, Cindy S. Malone

Acta Histochem. Author manuscript; available in PMC 2015 Nov 24.

Published in final edited form as: Acta Histochem. 2011 Nov; 113(7): 729–742. Published online 2010 Dec 9. doi: 10.1016/j.acthis.2010.11.001

PMCID:: PMC4657859

Abstract Article PDF–1.5M

Select item 45578387.

Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description

Roberta Battini, Silvano Bertelloni, Guja Astrea, Manuela Casarano, Lorena Travaglini, Giampiero Baroncelli, Rosa Pasquariello, Enrico Bertini, Giovanni Cioni

BMC Med Genet. 2015; 16: 53. Published online 2015 Jul 25. doi: 10.1186/s12881-015-0203-0

PMCID:: PMC4557838

Abstract Article PDF–2.4M

Select item 45200208.

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy

Mariana Gutierrez, Isabelle Thiffault, Kether Guerrero, Gabriel Á. Martos-Moreno, Luan T. Tran, William Benko, Marjo S. van der Knaap, Rosalina M. L. van Spaendonk, Nicole I. Wolf, Geneviève Bernard

Orphanet J Rare Dis. 2015; 10: 69. Published online 2015 Jun 5. doi: 10.1186/s13023-015-0279-9

PMCID:: PMC4520020

Abstract Article PDF–1.2M

Select item 22298499.

Mutation of RNA Pol III Subunit rpc2/polr3b Leads to Deficiency of Subunit Rpc11 and Disrupts Zebrafish Digestive Development

Nelson S Yee, Weilong Gong, Ying Huang, Kristin Lorent, Amy C Dolan, Richard J Maraia, Michael Pack

PLoS Biol. 2007 Nov; 5(11): e312. Published online 2007 Nov 27. doi: 10.1371/journal.pbio.0050312

PMCID:: PMC2229849

Abstract Article PDF–455K

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