PMC Links for Nucleotide (Select 1653961523) - PMC

Select item 50809341.

Potential diagnostic implications of miR-144 overexpression in human oesophageal cancer

Priyanka Sharma, Anoop Saraya, Rinu Sharma

Indian J Med Res. 2016 May; 143(Suppl 1): S91–S103. doi: 10.4103/0971-5916.191796

PMCID:: PMC5080934

Select item 47911932.

Pur-alpha regulates cytoplasmic stress granule dynamics and ameliorates FUS toxicity

J Gavin Daigle, Karthik Krishnamurthy, Nandini Ramesh, Ian Casci, John Monaghan, Kevin McAvoy, Earl W Godfrey, Dianne C. Daniel, Edward M. Johnson, Zach Monahan, Frank Shewmaker, Piera Pasinelli, Udai Bhan Pandey

Acta Neuropathol. Author manuscript; available in PMC 2017 Apr 1.

Published in final edited form as: Acta Neuropathol. 2016 Apr; 131(4): 605–620. Published online 2016 Jan 4. doi: 10.1007/s00401-015-1530-0

PMCID:: PMC4791193

Abstract Article PDF–1.7M

Select item 42255833.

Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome

Seema R. Lalani, Jing Zhang, Christian P. Schaaf, Chester W. Brown, Pilar Magoulas, Anne Chun-Hui Tsai, Areeg El-Gharbawy, Klaas J. Wierenga, Dennis Bartholomew, Chin-To Fong, Tina Barbaro-Dieber, Mary K. Kukolich, Lindsay C. Burrage, Elise Austin, Kory Keller, Matthew Pastore, Fabio Fernandez, Timothy Lotze, Angus Wilfong, Gabriela Purcarin, Wenmiao Zhu, William J. Craigen, Marianne McGuire, Mahim Jain, Erin Cooney, Mahshid Azamian, Matthew N. Bainbridge, Donna M. Muzny, Eric Boerwinkle, Richard E. Person, Zhiyv Niu, Christine M. Eng, James R. Lupski, Richard A. Gibbs, Arthur L. Beaudet, Yaping Yang, Meng C. Wang, Fan Xia

Am J Hum Genet. 2014 Nov 6; 95(5): 579–583. doi: 10.1016/j.ajhg.2014.09.014

PMCID:: PMC4225583

Abstract Article PDF–389K

Select item 3695584.

The HeLa Pur factor binds single-stranded DNA at a specific element conserved in gene flanking regions and origins of DNA replication.

A D Bergemann, E M Johnson

Mol Cell Biol. 1992 Mar; 12(3): 1257–1265. doi: 10.1128/mcb.12.3.1257

PMCID:: PMC369558

Summary Page Browse PDF–2.2M

Select item 3605075.

Sequence of cDNA comprising the human pur gene and sequence-specific single-stranded-DNA-binding properties of the encoded protein.

A D Bergemann, Z W Ma, E M Johnson

Mol Cell Biol. 1992 Dec; 12(12): 5673–5682. doi: 10.1128/mcb.12.12.5673

PMCID:: PMC360507

Summary Page Browse PDF–2.1M

Select item 58743976.

Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA

Keiko Shimojima, Nobuhiko Okamoto, Kayo Ohmura, Hiroaki Nagase, Toshiyuki Yamamoto

Hum Genome Var. 2018; 5: 18007. Published online 2018 Mar 29. doi: 10.1038/hgv.2018.7

PMCID:: PMC5874397

Abstract Article PDF–895K

Select item 58212667.

Expanding the neurodevelopmental phenotype of PURA syndrome

Bo Hoon Lee, Margot R.F. Reijnders, Oluwatobi Abubakare, Emily Tuttle, Brynn Lape, Kelly Q. Minks, Christopher Stodgell, Loisa Bennetto, Jennifer Kwon, Chin-To Fong, Karen W. Gripp, Eric D. Marsh, Wendy E. Smith, Ahm M. Huq, Stephanie A. Coury, Wen-Hann Tan, Orestes Solis, Rupal I Mehta, Richard J. Leventer, Diana Baralle, David Hunt, Alex R. Paciorkowski

Am J Med Genet A. Author manuscript; available in PMC 2019 Jan 1.

Published in final edited form as: Am J Med Genet A. 2018 Jan; 176(1): 56–67. Published online 2017 Nov 17. doi: 10.1002/ajmg.a.38521

PMCID:: PMC5821266

Abstract Article PDF–1.2M

Select item 58003468.

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

Margot R F Reijnders, Robert Janowski, Mohsan Alvi, Jay E Self, Ton J van Essen, Maaike Vreeburg, Rob P W Rouhl, Servi J C Stevens, Alexander P A Stegmann, Jolanda Schieving, Rolph Pfundt, Katinke van Dijk, Eric Smeets, Connie T R M Stumpel, Levinus A Bok, Jan Maarten Cobben, Marc Engelen, Sahar Mansour, Margo Whiteford, Kate E Chandler, Sofia Douzgou, Nicola S Cooper, Ene-Choo Tan, Roger Foo, Angeline H M Lai, Julia Rankin, Andrew Green, Tuula Lönnqvist, Pirjo Isohanni, Shelley Williams, Ilene Ruhoy, Karen S Carvalho, James J Dowling, Dorit L Lev, Katalin Sterbova, Petra Lassuthova, Jana Neupauerová, Jeff L Waugh, Sotirios Keros, Jill Clayton-Smith, Sarah F Smithson, Han G Brunner, Ceciel van Hoeckel, Mel Anderson, Virginia E Clowes, Victoria Mok Siu, The DDD study, Paulo Selber, Richard J Leventer, Christoffer Nellaker, Dierk Niessing, David Hunt, Diana Baralle

J Med Genet. 2018 Feb; 55(2): 104–113. Published online 2017 Nov 2. doi: 10.1136/jmedgenet-2017-104946

PMCID:: PMC5800346

Abstract Article PDF–1.3M

Select item 54602149.

Opposing activities of oncogenic MIR17HG and tumor suppressive MIR100HG clusters and their gene targets regulate replicative senescence in human adult stem cells

Mary F. Lopez, Ping Niu, Lu Wang, Maryann Vogelsang, Meenakshi Gaur, Bryan Krastins, Yueqiang Zhao, Aibek Smagul, Aliya Nussupbekova, Aikan A. Akanov, I. King Jordan, Victoria V. Lunyak

NPJ Aging Mech Dis. 2017; 3: 7. Published online 2017 Apr 20. doi: 10.1038/s41514-017-0006-y

PMCID:: PMC5460214

Abstract Article PDF–2.9M

Select item 347543710.

Microarray analysis of ox-LDL (oxidized low-density lipoprotein)-regulated genes in human coronary artery smooth muscle cells

Joe Minta, James Jungwon Yun, Rosanne St. Bernard

Cell Biol Int Rep (2010) 2010; 17(2): e00007. Prepublished online 2010 Nov 1. Published online 2010 Dec 16. doi: 10.1042/CBR20100006

PMCID:: PMC3475437

Abstract Article PDF–269K

Select item 187662211.

Frequency of Cancer Genes on the Chicken Z Chromosome and Its Human Homologues: Implications for Sex Chromosome Evolution

Rami Stiglec, Matthias Kohn, James Fong, Tariq Ezaz, Horst Hameister, Jennifer A. Marshall Graves

Comp Funct Genomics. 2007; 2007: 43070. Published online 2007 Jan 8. doi: 10.1155/2007/43070

PMCID:: PMC1876622

Abstract Article PDF–475K

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