PMC Links for Nucleotide (Select 1519315934) - PMC

Select item 48332161.

Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice

Ranad Shaheen, Shams Anazi, Tawfeg Ben-Omran, Mohammed Zain Seidahmed, L. Brianna Caddle, Kristina Palmer, Rehab Ali, Tarfa Alshidi, Samya Hagos, Leslie Goodwin, Mais Hashem, Salma M. Wakil, Mohamed Abouelhoda, Dilek Colak, Stephen A. Murray, Fowzan S. Alkuraya

Am J Hum Genet. 2016 Apr 7; 98(4): 643–652. Published online 2016 Mar 24. doi: 10.1016/j.ajhg.2016.02.010

PMCID:: PMC4833216

Abstract Article PDF–1.9M

Select item 30176012.

Characterization of SMG-9, an essential component of the nonsense-mediated mRNA decay SMG1C complex

Israel S. Fernández, Akio Yamashita, Ernesto Arias-Palomo, Yumi Bamba, Ruben A. Bartolomé, M. Angeles Canales, Joaquín Teixidó, Shigeo Ohno, Oscar Llorca

Nucleic Acids Res. 2011 Jan; 39(1): 347–358. Published online 2010 Sep 3. doi: 10.1093/nar/gkq749

PMCID:: PMC3017601

Abstract Article PDF–1.4M

Select item 26829533.

SMG-8 and SMG-9, two novel subunits of the SMG-1 complex, regulate remodeling of the mRNA surveillance complex during nonsense-mediated mRNA decay

Akio Yamashita, Natsuko Izumi, Isao Kashima, Tetsuo Ohnishi, Bonnie Saari, Yukiko Katsuhata, Reiko Muramatsu, Tomoko Morita, Akihiro Iwamatsu, Takahisa Hachiya, Rie Kurata, Hisashi Hirano, Philip Anderson, Shigeo Ohno

Genes Dev. 2009 May 1; 23(9): 1091–1105. doi: 10.1101/gad.1767209

PMCID:: PMC2682953

Abstract Article PDF–1.0M

Select item 10837324.

Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing

Jeremy C. Simpson, Ruth Wellenreuther, Annemarie Poustka, Rainer Pepperkok, Stefan Wiemann

EMBO Rep. 2000 Sep 15; 1(3): 287–292. doi: 10.1093/embo-reports/kvd058

PMCID:: PMC1083732

Abstract Article PDF–375K

Select item 65465565.

Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes

Hui Guo, Michael H. Duyzend, Bradley P. Coe, Carl Baker, Kendra Hoekzema, Jennifer Gerdts, Tychele N. Turner, Michael C. Zody, Jennifer S. Beighley, Shwetha C. Murali, Bradley J. Nelson, University of Washington Center for Mendelian Genomics, Michael J. Bamshad, Deborah A. Nickerson, Raphael A. Bernier, Evan E. Eichler

Genet Med. Author manuscript; available in PMC 2020 Jan 1.

Published in final edited form as: Genet Med. 2019 Jul; 21(7): 1611–1620. Published online 2018 Dec 3. doi: 10.1038/s41436-018-0380-2

PMCID:: PMC6546556

Abstract Article PDF–1.0M

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