PMC Links for Nucleotide (Select 1519311980) - PMC

Select item 67426461.

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu

Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3

PMCID:: PMC6742646

Abstract Article PDF–1.2M

Select item 61387472.

Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs

Robert Smigiel, Gerd Landsberg, Maximilian Schilling, Małgorzata Rydzanicz, Agnieszka Pollak, Anna Walczak, Anna Stodolak, Piotr Stawinski, Hanna Mierzewska, Maria M. Sasiadek, Oliver J. Gruss, Rafal Ploski

Eur J Hum Genet. 2018 Oct; 26(10): 1502–1511. Published online 2018 Jun 13. doi: 10.1038/s41431-018-0179-2

PMCID:: PMC6138747

Abstract Article PDF–2.3M

Select item 57101403.

Suppression of protein tyrosine phosphatase N23 predisposes to breast tumorigenesis via activation of FYN kinase

Siwei Zhang, Gaofeng Fan, Yuan Hao, Molly Hammell, John Erby Wilkinson, Nicholas K. Tonks

Genes Dev. 2017 Oct 1; 31(19): 1939–1957. doi: 10.1101/gad.304261.117

PMCID:: PMC5710140

Abstract Article PDF–8.8M

Select item 69063084.

Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities

Renee Bend, Lior Cohen, Melissa T. Carter, Michael J. Lyons, Dmitriy Niyazov, Mohamad A. Mikati, Samantha K. Rojas, Richard E. Person, Yue Si, Ingrid M. Wentzensen, Regeneron Genetics Center, Erin Torti, Jennifer A. Lee, Kym M. Boycott, Lina Basel-Salmon, Carlos R. Ferreira, Claudia Gonzaga-Jauregui

Eur J Hum Genet. 2020 Jan; 28(1): 76–87. Published online 2019 Aug 8. doi: 10.1038/s41431-019-0487-1

PMCID:: PMC6906308

Abstract Article PDF–2.1M

Select item 37453445.

Tumor-suppressive Function of Protein-tyrosine Phosphatase Non-receptor Type 23 in Testicular Germ Cell Tumors Is Lost upon Overexpression of miR142–3p microRNA

Kiyoko Tanaka, Keiichi Kondo, Kenji Kitajima, Masatoshi Muraoka, Akinori Nozawa, Takahiko Hara

J Biol Chem. 2013 Aug 16; 288(33): 23990–23999. Published online 2013 Jul 10. doi: 10.1074/jbc.M113.478891

PMCID:: PMC3745344

Abstract Article PDF–2.3M

Select item 27935196.

A Direct Phenotypic Comparison of siRNA Pools and Multiple Individual Duplexes in a Functional Assay

Brendon D. Parsons, Anja Schindler, David H. Evans, Edan Foley

PLoS One. 2009; 4(12): e8471. Published online 2009 Dec 29. doi: 10.1371/journal.pone.0008471

PMCID:: PMC2793519

Abstract Article PDF–863K

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