PMC Links for GEO Profiles (Select 113050525) - PMC

Select item 67742481.

The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome

Laura S. Farach, Mary E. Little, Angela L. Duker, Clare V. Logan, Andrew Jackson, Jaqueline T. Hecht, Michael Bober

Am J Med Genet A. Author manuscript; available in PMC 2019 Oct 2.

Published in final edited form as: Am J Med Genet A. 2018 Feb; 176(2): 465–469. Published online 2017 Dec 19. doi: 10.1002/ajmg.a.38581

PMCID:: PMC6774248

Abstract Article PDF–348K

Select item 57847062.

Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly

Ye Wang, Xueli Wu, Liu Du, Ju Zheng, Songqing Deng, Xin Bi, Qiuyan Chen, Hongning Xie, Claude Férec, David N. Cooper, Yanmin Luo, Qun Fang, Jian-Min Chen

Hum Genomics. 2018; 12: 3. Published online 2018 Jan 25. doi: 10.1186/s40246-018-0135-9

PMCID:: PMC5784706

Abstract Article PDF–3.4M

Select item 56785813.

RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination

Nila Roy Choudhury, Gregory Heikel, Maryia Trubitsyna, Peter Kubik, Jakub Stanislaw Nowak, Shaun Webb, Sander Granneman, Christos Spanos, Juri Rappsilber, Alfredo Castello, Gracjan Michlewski

BMC Biol. 2017; 15: 105. Published online 2017 Nov 8. doi: 10.1186/s12915-017-0444-9

PMCID:: PMC5678581

Abstract Article PDF–3.2M

Select item 46676434.

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing

Daniele Merico, Maian Roifman, Ulrich Braunschweig, Ryan K. C. Yuen, Roumiana Alexandrova, Andrea Bates, Brenda Reid, Thomas Nalpathamkalam, Zhuozhi Wang, Bhooma Thiruvahindrapuram, Paul Gray, Alyson Kakakios, Jane Peake, Stephanie Hogarth, David Manson, Raymond Buncic, Sergio L. Pereira, Jo-Anne Herbrick, Benjamin J. Blencowe, Chaim M. Roifman, Stephen W. Scherer

Nat Commun. 2015; 6: 8718. Published online 2015 Nov 2. doi: 10.1038/ncomms9718

PMCID:: PMC4667643

Abstract Article PDF–819K

Select item 41146875.

Biochemical defects in minor spliceosome function in the developmental disorder MOPD I

Faegheh Jafarifar, Rosemary C. Dietrich, James M. Hiznay, Richard A. Padgett

RNA. 2014 Jul; 20(7): 1078–1089. doi: 10.1261/rna.045187.114

PMCID:: PMC4114687

Abstract Article PDF–719K

Select item 38166356.

Microcephalic Osteodysplastic Primordial Dwarfism type I with biallelic mutations in the RNU4ATAC gene

Rebecca Nagy, Heng Wang, Beate Albrecht, Dagmar Wieczorek, Gabriele Gillessen-Kaesbach, Eric Haan, Peter Meinecke, Albert de la Chapelle, Judith A. Westman

Clin Genet. Author manuscript; available in PMC 2013 Nov 4.

Published in final edited form as: Clin Genet. 2012 Aug; 82(2): 10.1111/j.1399-0004.2011.01756.x. Published online 2011 Aug 28. doi: 10.1111/j.1399-0004.2011.01756.x

PMCID:: PMC3816635

Abstract Article PDF–1.9M

Select item 33804487.

Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I

Huiling He, Sandya Liyanarachchi, Keiko Akagi, Rebecca Nagy, Jingfeng Li, Rosemary C Dietrich, Wei Li, Nikhil Sebastian, Bernard Wen, Baozhong Xin, Jarnail Singh, Pearlly Yan, Hansjuerg Alder, Eric Haan, Dagmar Wieczorek, Beate Albrecht, Erik Puffenberger, Heng Wang, Judith A. Westman, Richard A Padgett, David E Symer, Albert de la Chapelle

Science. Author manuscript; available in PMC 2012 Jun 21.

Published in final edited form as: Science. 2011 Apr 8; 332(6026): 238–240. doi: 10.1126/science.1200587

PMCID:: PMC3380448

Abstract Article PDF–715K

Select item 3141448.

U4 small nuclear RNA can function in both the major and minor spliceosomes

Girish C. Shukla, Richard A. Padgett

Proc Natl Acad Sci U S A. 2004 Jan 6; 101(1): 93–98. Published online 2003 Dec 22. doi: 10.1073/pnas.0304919101

PMCID:: PMC314144

Abstract Article PDF–453K

Select item 1337959.

Human U4/U6.U5 and U4atac/U6atac.U5 Tri-snRNPs Exhibit Similar Protein Compositions

Claudia Schneider, Cindy L. Will, Olga V. Makarova, Evgeny M. Makarov, Reinhard Lührmann

Mol Cell Biol. 2002 May; 22(10): 3219–3229. doi: 10.1128/MCB.22.10.3219-3229.2002

PMCID:: PMC133795

Abstract Article PDF–307K

Select item 12907610.

Hierarchical, clustered protein interactions with U4/U6 snRNA: a biochemical role for U4/U6 proteins

Stephanie Nottrott, Henning Urlaub, Reinhard Lührmann

EMBO J. 2002 Oct 15; 21(20): 5527–5538. doi: 10.1093/emboj/cdf544

PMCID:: PMC129076

Abstract Article PDF–349K

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