PMC Links for Books (Select 4397578) - PMC

Select item 48508901.

De novo mutations in PURA are associated with hypotonia and developmental delay

Akemi J. Tanaka, Renkui Bai, Megan T. Cho, Kwame Anyane-Yeboa, Priyanka Ahimaz, Ashley L. Wilson, Fran Kendall, Beverly Hay, Timothy Moss, Monica Nardini, Mislen Bauer, Kyle Retterer, Jane Juusola, Wendy K. Chung

Cold Spring Harb Mol Case Stud. 2015 Oct; 1(1): a000356. doi: 10.1101/mcs.a000356

PMCID:: PMC4850890

Abstract Article PDF–1.0M

Select item 47645812.

Structural basis of nucleic-acid recognition and double-strand unwinding by the essential neuronal protein Pur-alpha

Janine Weber, Han Bao, Christoph Hartlmüller, Zhiqin Wang, Almut Windhager, Robert Janowski, Tobias Madl, Peng Jin, Dierk Niessing

eLife. 2016; 5: e11297. Published online 2016 Jan 8. doi: 10.7554/eLife.11297

PMCID:: PMC4764581

Abstract Article PDF–4.4M

Select item 46502923.

Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA

Maria Clara Bonaglia, Nicoletta Zanotta, Roberto Giorda, Grazia D’Angelo, Claudio Zucca

Mol Cytogenet. 2015; 8: 89. Published online 2015 Nov 14. doi: 10.1186/s13039-015-0193-9

PMCID:: PMC4650292

Abstract Article PDF–2.1M

Select item 45447534.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 42511685.

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability

David Hunt, Richard J Leventer, Cas Simons, Ryan Taft, Kathryn J Swoboda, Mary Gawne-Cain, the DDD study, Alex C Magee, Peter D Turnpenny, Diana Baralle

J Med Genet. 2014 Dec; 51(12): 806–813. Published online 2014 Oct 23. doi: 10.1136/jmedgenet-2014-102798

PMCID:: PMC4251168

Abstract Article PDF–22M

Select item 42255836.

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 27654577.

X-ray structure of Pur-α reveals a Whirly-like fold and an unusual nucleic-acid binding surface

Almut Graebsch, Stéphane Roche, Dierk Niessing

Proc Natl Acad Sci U S A. 2009 Nov 3; 106(44): 18521–18526. Published online 2009 Oct 21. doi: 10.1073/pnas.0907990106

PMCID:: PMC2765457

Abstract Article PDF–3.0M

Select item 26834118.

Multiple roles for Purα in cellular and viral regulation

Martyn K. White, Edward M. Johnson, Kamel Khalili

Cell Cycle. Author manuscript; available in PMC 2010 Feb 1.

Published in final edited form as: Cell Cycle. 2009 Feb 1; 8(3): 1–7. Published online 2009 Feb 10. doi: 10.4161/cc.8.3.7585

PMCID:: PMC2683411

Abstract Article PDF–190K

Select item 1939449.

Purα Is Essential for Postnatal Brain Development and Developmentally Coupled Cellular Proliferation As Revealed by Genetic Inactivation in the Mouse

Kamel Khalili, Luis Del Valle, Vandhana Muralidharan, William J. Gault, Nune Darbinian, Jessica Otte, Ellen Meier, Edward M. Johnson, Dianne C. Daniel, Yayoi Kinoshita, Shohreh Amini, Jennifer Gordon

Mol Cell Biol. 2003 Oct; 23(19): 6857–6875. doi: 10.1128/MCB.23.19.6857-6875.2003

PMCID:: PMC193944

Abstract Article PDF–2.8M

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