PMC Links for Nucleotide (Select 312032425) - PMC

Select item 65902151.

Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing

Matthias Rath, Stefanie Spiegler, Tim M. Strom, Johannes Trenkler, Peter Michael Kroisel, Ute Felbor

Am J Med Genet A. 2019 Feb; 179(2): 295–299. Published online 2018 Dec 17. doi: 10.1002/ajmg.a.60700

PMCID:: PMC6590215

Select item 53766492.

A genome-wide screen identifies YAP/WBP2 interplay conferring growth advantage on human epidermal stem cells

Gernot Walko, Samuel Woodhouse, Angela Oliveira Pisco, Emanuel Rognoni, Kifayathullah Liakath-Ali, Beate M. Lichtenberger, Ajay Mishra, Stephanie B. Telerman, Priyalakshmi Viswanathan, Meike Logtenberg, Lisa M. Renz, Giacomo Donati, Sven R. Quist, Fiona M. Watt

Nat Commun. 2017; 8: 14744. Published online 2017 Mar 23. doi: 10.1038/ncomms14744

PMCID:: PMC5376649

Abstract Article PDF–3.8M

Select item 52230263.

Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease

Dong-chuan Guo, Xue-Yan Duan, Ellen S. Regalado, Lauren Mellor-Crummey, Callie S. Kwartler, Dong Kim, Kenneth Lieberman, Bert B.A. de Vries, Rolph Pfundt, Albert Schinzel, Dieter Kotzot, Xuetong Shen, Min-Lee Yang, University of Washington Center for Mendelian Genomics, Michael J. Bamshad, Deborah A. Nickerson, Heather L. Gornik, Santhi K. Ganesh, Alan C. Braverman, Dorothy K. Grange, Dianna M. Milewicz

Am J Hum Genet. 2017 Jan 5; 100(1): 21–30. Published online 2016 Dec 8. doi: 10.1016/j.ajhg.2016.11.008

PMCID:: PMC5223026

Abstract Article PDF–1.9M

Select item 23751674.

Identification and characterization of a novel human hepatocellular carcinoma-associated gene

Z-X Wang, H-Y Wang, M-C Wu

Br J Cancer. 2001 Oct; 85(8): 1162–1167. doi: 10.1054/bjoc.2001.2059

PMCID:: PMC2375167

Summary PDF–80K

Select item 5144465.

Large-scale characterization of HeLa cell nuclear phosphoproteins

Sean A. Beausoleil, Mark Jedrychowski, Daniel Schwartz, Joshua E. Elias, Judit Villén, Jiaxu Li, Martin A. Cohn, Lewis C. Cantley, Steven P. Gygi

Proc Natl Acad Sci U S A. 2004 Aug 17; 101(33): 12130–12135. Published online 2004 Aug 9. doi: 10.1073/pnas.0404720101

PMCID:: PMC514446

Abstract Article PDF–475K

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