PMC Links for Nucleotide (Select 1519246214) - PMC

Select item 64083181.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

Lindsay C. Burrage, John J. Reynolds, Nissan Vida Baratang, Jennifer B. Phillips, Jeremy Wegner, Ashley McFarquhar, Martin R. Higgs, Audrey E. Christiansen, Denise G. Lanza, John R. Seavitt, Mahim Jain, Xiaohui Li, David A. Parry, Vandana Raman, David Chitayat, Ivan K. Chinn, Alison A. Bertuch, Lefkothea Karaviti, Alan E. Schlesinger, Dawn Earl, Michael Bamshad, Ravi Savarirayan, Harsha Doddapaneni, Donna Muzny, Shalini N. Jhangiani, Christine M. Eng, Richard A. Gibbs, Weimin Bi, Lisa Emrick, Jill A. Rosenfeld, John Postlethwait, Monte Westerfield, Mary E. Dickinson, Arthur L. Beaudet, Emmanuelle Ranza, Celine Huber, Valérie Cormier-Daire, Wei Shen, Rong Mao, Jason D. Heaney, Jordan S. Orange, University of Washington Center for Mendelian Genomics, Undiagnosed Diseases Network, Débora Bertola, Guilherme L. Yamamoto, Wagner A.R. Baratela, Merlin G. Butler, Asim Ali, Mehdi Adeli, Daniel H. Cohn, Deborah Krakow, Andrew P. Jackson, Melissa Lees, Amaka C. Offiah, Colleen M. Carlston, John C. Carey, Grant S. Stewart, Carlos A. Bacino, Philippe M. Campeau, Brendan Lee

Am J Hum Genet. 2019 Mar 7; 104(3): 422–438. Published online 2019 Feb 14. doi: 10.1016/j.ajhg.2019.01.007

PMCID:: PMC6408318

Abstract Article PDF–1.9M

Select item 64075242.

Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia

Hae Ryung Chang, Sung Yoon Cho, Jae Hoon Lee, Eunkyung Lee, Jieun Seo, Hye Ran Lee, Denise P. Cavalcanti, Outi Mäkitie, Helena Valta, Katta M. Girisha, Chung Lee, Kausthubham Neethukrishna, Gandham S. Bhavani, Anju Shukla, Sheela Nampoothiri, Shubha R. Phadke, Mi Jung Park, Shiro Ikegawa, Zheng Wang, Martin R. Higgs, Grant S. Stewart, Eunyoung Jung, Myeong-Sok Lee, Jong Hoon Park, Eun A. Lee, Hongtae Kim, Kyungjae Myung, Woosung Jeon, Kyoungyeul Lee, Dongsup Kim, Ok-Hwa Kim, Murim Choi, Han-Woong Lee, Yonghwan Kim, Tae-Joon Cho

Am J Hum Genet. 2019 Mar 7; 104(3): 439–453. Published online 2019 Feb 14. doi: 10.1016/j.ajhg.2019.01.009

PMCID:: PMC6407524

Abstract Article PDF–2.0M

Select item 58433763.

Histone chaperones ASF1 and CAF-1 promote MMS22L-TONSL-mediated Rad51 loading onto ssDNA during homologous recombination in human cells

Ting-Hsiang Huang, Faith Fowler, Chin-Chuan Chen, Zih-Jie Shen, Barry Sleckman, Jessica K. Tyler

Mol Cell. Author manuscript; available in PMC 2019 Mar 1.

Published in final edited form as: Mol Cell. 2018 Mar 1; 69(5): 879–892.e5. Published online 2018 Feb 22. doi: 10.1016/j.molcel.2018.01.031

Correction in:: Mol Cell. 2020 Mar 5; 77(5): 1153.

PMCID:: PMC5843376

Abstract Article PDF–1.3M

Select item 52835914.

The MMS22L–TONSL heterodimer directly promotes RAD51‐dependent recombination upon replication stress

Wojciech Piwko, Lucie J Mlejnkova, Karun Mutreja, Lepakshi Ranjha, Diana Stafa, Alexander Smirnov, Mia ML Brodersen, Ralph Zellweger, Andreas Sturzenegger, Pavel Janscak, Massimo Lopes, Matthias Peter, Petr Cejka

EMBO J. 2016 Dec 1; 35(23): 2584–2601. Published online 2016 Oct 26. doi: 10.15252/embj.201593132

PMCID:: PMC5283591

Abstract Article PDF–2.2M

Select item 30315225.

The MMS22L-TONSL complex mediates recovery from replication stress and homologous recombination

Lara O’Donnell, Stephanie Panier, Jan Wildenhain, Johnny M. Tkach, Abdallah Al-Hakim, Marie-Claude Landry, Cristina Escribano-Diaz, Rachel K. Szilard, Jordan T. F. Young, Meagan Munro, Marella D. Canny, Nadine K. Kolas, Wei Zhang, Shane M. Harding, Jarkko Ylanko, Megan Mendez, Michael Mullin, Thomas Sun, Bianca Habermann, Alessandro Datti, Robert G. Bristow, Anne-Claude Gingras, Michael D. Tyers, Grant W. Brown, Daniel Durocher

Mol Cell. Author manuscript; available in PMC 2011 May 1.

Published in final edited form as: Mol Cell. 2010 Nov 24; 40(4): 619–631. Published online 2010 Nov 4. doi: 10.1016/j.molcel.2010.10.024

PMCID:: PMC3031522

Abstract Article PDF–1.8M

Select item 38999546.

Gene Expressions for Signal Transduction under Acidic Conditions

Toshihiko Fukamachi, Syunsuke Ikeda, Xin Wang, Hiromi Saito, Masatoshi Tagawa, Hiroshi Kobayashi

Genes (Basel) 2013 Mar; 4(1): 65–85. Published online 2013 Mar 8. doi: 10.3390/genes4010065

PMCID:: PMC3899954

Abstract Article PDF–198K

Select item 27249147.

Gene expression profiling of substantia nigra dopamine neurons: further insights into Parkinson's disease pathology

Filip Simunovic, Ming Yi, Yulei Wang, Laurel Macey, Lauren T. Brown, Anna M. Krichevsky, Susan L. Andersen, Robert M. Stephens, Francine M. Benes, Kai C. Sonntag

Brain. 2009 Jul; 132(7): 1795–1809. Published online 2008 Dec 3. doi: 10.1093/brain/awn323

PMCID:: PMC2724914

Abstract Article PDF–195K

Select item 26746748.

3′UTR-located ALU Elements: Donors of Potetial miRNA Target Sites and Mediators of Network miRNA-based Regulatory Interactions

Evelina Daskalova, Vesselin Baev, Ventsislav Rusinov, Ivan Minkov

Evol Bioinform Online. 2006; 2: 103–120. Published online 2007 Jan 18.

PMCID:: PMC2674674

Abstract Article PDF–590K

Select item 1502499.

Detection and analysis of spliced chimeric mRNAs in sequence databanks

Antonello Romani, Emanuela Guerra, Marco Trerotola, Saverio Alberti

Nucleic Acids Res. 2003 Feb 15; 31(4): e17. doi: 10.1093/nar/gng017

PMCID:: PMC150249

Abstract Article PDF–307K

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