PMC Links for Gene (Select 393480) - PMC

Select item 44877811.

EFTUD2 deficiency in vertebrates: identification of a novel human mutation and generation of a zebrafish model

Brett Deml, Linda M. Reis, Sanaa Muheisen, David Bick, Elena V. Semina

Birth Defects Res A Clin Mol Teratol. Author manuscript; available in PMC 2016 Jul 1.

Published in final edited form as: Birth Defects Res A Clin Mol Teratol. 2015 Jul; 103(7): 630–640. Published online 2015 Jun 27. doi: 10.1002/bdra.23397

PMCID:: PMC4487781

Abstract Article PDF–1.4M

Select item 68945062.

EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway

Jing Wu, Yi Yang, You He, Qiang Li, Xu Wang, Chengjun Sun, Lishun Wang, Yu An, Feihong Luo

Hum Genomics. 2019; 13: 63. Published online 2019 Dec 5. doi: 10.1186/s40246-019-0238-y

PMCID:: PMC6894506

Abstract Article PDF–8.2M

Select item 44691723.

Knocking Down Snrnp200 Initiates Demorphogenesis of Rod Photoreceptors in Zebrafish

Yuan Liu, Xue Chen, Bing Qin, Kanxing Zhao, Qingshun Zhao, Jonathan P. Staley, Chen Zhao

J Ophthalmol. 2015; 2015: 816329. Published online 2015 Jun 2. doi: 10.1155/2015/816329

PMCID:: PMC4469172

Abstract Article PDF–3.1M

Select item 73782454.

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

Yu-Ri Lee, Kamal Khan, Kim Armfield-Uhas, Sujata Srikanth, Nicola A. Thompson, Mercedes Pardo, Lu Yu, Joy W. Norris, Yunhui Peng, Karen W. Gripp, Kirk A. Aleck, Chumei Li, Ed Spence, Tae-Ik Choi, Soo Jeong Kwon, Hee-Moon Park, Daseuli Yu, Won Do Heo, Marie R. Mooney, Shahid M. Baig, Ingrid M. Wentzensen, Aida Telegrafi, Kirsty McWalter, Trevor Moreland, Chelsea Roadhouse, Keri Ramsey, Michael J. Lyons, Cindy Skinner, Emil Alexov, Nicholas Katsanis, Roger E. Stevenson, Jyoti S. Choudhary, David J. Adams, Cheol-Hee Kim, Erica E. Davis, Charles E. Schwartz

Nat Commun. 2020; 11: 3698. Published online 2020 Jul 23. doi: 10.1038/s41467-020-17452-6

PMCID:: PMC7378245

Abstract Article PDF–2.2M

Select item 53894675.

Spliceosomal protein eftud2 mutation leads to p53-dependent apoptosis in zebrafish neural progenitors

Lei Lei, Shou-Yu Yan, Ran Yang, Jia-Yu Chen, Yumei Li, Ye Bu, Nannan Chang, Qinchao Zhou, Xiaojun Zhu, Chuan-Yun Li, Jing-Wei Xiong

Nucleic Acids Res. 2017 Apr 7; 45(6): 3422–3436. Published online 2016 Nov 24. doi: 10.1093/nar/gkw1043

PMCID:: PMC5389467

Abstract Article PDF–5.6M

Select item 46341376.

RFX transcription factors are essential for hearing in mice

Ran Elkon, Beatrice Milon, Laura Morrison, Manan Shah, Sarath Vijayakumar, Manoj Racherla, Carmen C. Leitch, Lorna Silipino, Shadan Hadi, Michèle Weiss-Gayet, Emmanuèle Barras, Christoph D. Schmid, Aouatef Ait-Lounis, Ashley Barnes, Yang Song, David J. Eisenman, Efrat Eliyahu, Gregory I. Frolenkov, Scott E. Strome, Bénédicte Durand, Norann A. Zaghloul, Sherri M. Jones, Walter Reith, Ronna Hertzano

Nat Commun. 2015; 6: 8549. Published online 2015 Oct 15. doi: 10.1038/ncomms9549

PMCID:: PMC4634137

Abstract Article PDF–5.5M

Select item 1392417.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

Select item 31780598.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

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