PMC Links for Nucleotide (Select 306482599) - 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 62957302.

A dominant dendrite phenotype caused by the disease-associated G253D mutation in doublecortin (DCX) is not due to its endocytosis defect

Chan Choo Yap, Laura Digilio, Kamil Kruczek, Matylda Roszkowska, Xiao-qin Fu, Judy S. Liu, Bettina Winckler

J Biol Chem. 2018 Dec 7; 293(49): 18890–18902. Published online 2018 Oct 5. doi: 10.1074/jbc.RA118.004462

PMCID:: PMC6295730

Abstract Article PDF–3.7M

Select item 55956793.

Evidence for reduced neurogenesis in the aging human hippocampus despite stable stem cell markers

Kathryn J. Mathews, Katherine M. Allen, Danny Boerrigter, Helen Ball, Cynthia Shannon Weickert, Kay L. Double

Aging Cell. 2017 Oct; 16(5): 1195–1199. Published online 2017 Aug 1. doi: 10.1111/acel.12641

PMCID:: PMC5595679

Abstract Article PDF–662K

Select item 55078564.

Dynamic microtubule association of Doublecortin X (DCX) is regulated by its C-terminus

Maryam Moslehi, Dominic C. H. Ng, Marie A. Bogoyevitch

Sci Rep. 2017; 7: 5245. Published online 2017 Jul 12. doi: 10.1038/s41598-017-05340-x

PMCID:: PMC5507856

Abstract Article PDF–7.3M

Select item 10508885.

Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22.

V des Portes, J M Pinard, D Smadja, J Motte, O Boespflüg-Tanguy, M L Moutard, I Desguerre, P Billuart, A Carrie, T Bienvenu, M C Vinet, L Bachner, C Beldjord, O Dulac, A Kahn, G Ponsot, J Chelly

J Med Genet. 1997 Mar; 34(3): 177–183. doi: 10.1136/jmg.34.3.177

PMCID:: PMC1050888

Summary Page Browse PDF–1.5M

Select item 65055106.

Bezafibrate Upregulates Mitochondrial Biogenesis and Influence Neural Differentiation of Human-Induced Pluripotent Stem Cells

Justyna Augustyniak, Jacek Lenart, Paweł Gaj, Monika Kolanowska, Krystian Jazdzewski, Piotr Pawel Stepien, Leonora Buzanska

Mol Neurobiol. 2019; 56(6): 4346–4363. Published online 2018 Oct 13. doi: 10.1007/s12035-018-1368-2

PMCID:: PMC6505510

Abstract Article PDF–1.8M

Select item 61793557.

Human hippocampal neurogenesis drops sharply in children to undetectable levels in adults

Shawn F. Sorrells, Mercedes F. Paredes, Arantxa Cebrian-Silla, Kadellyn Sandoval, Dashi Qi, Kevin W. Kelley, David James, Simone Mayer, Julia Chang, Kurtis I. Auguste, Edward Chang, Antonio J. Gutierrez Martin, Arnold R. Kriegstein, Gary W. Mathern, Michael C. Oldham, Eric J. Huang, Jose Manuel Garcia-Verdugo, Zhengang Yang, Arturo Alvarez-Buylla

Nature. Author manuscript; available in PMC 2018 Oct 10.

Published in final edited form as: Nature. 2018 Mar 15; 555(7696): 377–381. Published online 2018 Mar 7. doi: 10.1038/nature25975

PMCID:: PMC6179355

Abstract Article PDF–4.4M

Select item 61523128.

Structural Insight into the Recognition of r(UAG) by Musashi-1 RBD2, and Construction of a Model of Musashi-1 RBD1-2 Bound to the Minimum Target RNA

Ryo Iwaoka, Takashi Nagata, Kengo Tsuda, Takao Imai, Hideyuki Okano, Naohiro Kobayashi, Masato Katahira

Molecules. 2017 Jul; 22(7): 1207. Published online 2017 Jul 19. doi: 10.3390/molecules22071207

PMCID:: PMC6152312

Abstract Article PDF–3.7M

Select item 60579769.

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

Wojciech Wiszniewski, Pawel Gawlinski, Tomasz Gambin, Monika Bekiesinska-Figatowska, Ewa Obersztyn, Dorota Antczak-Marach, Zeynep Hande Coban Akdemir, Tamar Harel, Ender Karaca, Marta Jurek, Katarzyna Sobecka, Beata Nowakowska, Malgorzata Kruk, Iwona Terczynska, Alicja Goszczanska-Ciuchta, Mariola Rudzka-Dybala, Ewa Jamroz, Antoni Pyrkosz, Anna Jakubiuk-Tomaszuk, Piotr Iwanowski, Dorota Gieruszczak-Bialek, Malgorzata Piotrowicz, Maria Sasiadek, Iwona Kochanowska, Barbara Gurda, Barbara Steinborn, Mateusz Dawidziuk, Jennifer Castaneda, Pawel Wlasienko, Natalia Bezniakow, Shalini N. Jhangiani, Dorota Hoffman-Zacharska, Jerzy Bal, Elzbieta Szczepanik, Eric Boerwinkle, Richard A. Gibbs, James R. Lupski

Eur J Hum Genet. 2018 Aug; 26(8): 1121–1131. Published online 2018 Apr 30. doi: 10.1038/s41431-018-0137-z

PMCID:: PMC6057976

Abstract Article PDF–1.1M

Select item 432672010.

Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform

Erika Della Mina, Roberto Ciccone, Francesca Brustia, Baran Bayindir, Ivan Limongelli, Annalisa Vetro, Maria Iascone, Laura Pezzoli, Riccardo Bellazzi, Gianfranco Perotti, Valentina De Giorgis, Simona Lunghi, Giangennaro Coppola, Simona Orcesi, Pietro Merli, Salvatore Savasta, Pierangelo Veggiotti, Orsetta Zuffardi

Eur J Hum Genet. 2015 Mar; 23(3): 354–362. Published online 2014 May 21. doi: 10.1038/ejhg.2014.92

PMCID:: PMC4326720

Abstract Article PDF–1.6M

Select item 420862411.

Decrease in creatine kinase messenger RNA expression in the hippocampus and dorsolateral prefrontal cortex in bipolar disorder

Matthew L MacDonald, Alipi Naydenov, Melissa Chu, David Matzilevich, Christine Konradi

Bipolar Disord. Author manuscript; available in PMC 2014 Oct 24.

Published in final edited form as: Bipolar Disord. 2006 Jun; 8(3): 255–264. doi: 10.1111/j.1399-5618.2006.00302.x

PMCID:: PMC4208624

Abstract Article PDF–675K

Select item 388015012.

Transcriptomes of the major human pancreatic cell types

C. Dorrell, J. Schug, C. F. Lin, P. S. Canaday, A. J. Fox, O. Smirnova, R. Bonnah, P. R. Streeter, C. J. Stoeckert, Jr, K. H. Kaestner, M. Grompe

Diabetologia. Author manuscript; available in PMC 2014 Jan 3.

Published in final edited form as: Diabetologia. 2011 Nov; 54(11): 10.1007/s00125-011-2283-5. Published online 2011 Sep 1. doi: 10.1007/s00125-011-2283-5

Correction in:: volume 56 on page 1192

PMCID:: PMC3880150

Abstract Article PDF–791K

Select item 309753513.

Global gene expression and Ingenuity biological functions analysis on PCB 153 and 138 induced human PBMC in vitro reveals differential mode(s) of action in developing toxicities

Somiranjan Ghosh, Shizhu Zang, Partha S. Mitra, Svetlana Ghimbovschi, Eric P. Hoffman, Sisir K. Dutta

Environ Int. Author manuscript; available in PMC 2012 Jul 1.

Published in final edited form as: Environ Int. 2011 Jul; 37(5): 838–857. Published online 2011 Apr 5. doi: 10.1016/j.envint.2011.02.010

PMCID:: PMC3097535

Abstract Article PDF–3.2M

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