PMC Links for Nucleotide (Select 1750897553) - PMC

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Items: 11

Select item 18211141.

Reduced Neuron-Specific Expression of the TAF1 Gene Is Associated with X-Linked Dystonia-Parkinsonism

Satoshi Makino, Ryuji Kaji, Satoshi Ando, Maiko Tomizawa, Katsuhito Yasuno, Satoshi Goto, Shinnichi Matsumoto, Ma. Daisy Tabuena, Elma Maranon, Marita Dantes, Lillian V. Lee, Kazumasa Ogasawara, Ikuo Tooyama, Hiroyasu Akatsu, Masataka Nishimura, Gen Tamiya

Am J Hum Genet. 2007 Mar; 80(3): 393–406. Published online 2007 Jan 23. doi: 10.1086/512129

PMCID:: PMC1821114

Abstract Article PDF–2.6M

Select item 4571532.

Molecular cloning of the cDNA of human X chromosomal gene (CCG1) which complements the temperature-sensitive G1 mutants, tsBN462 and ts13, of the BHK cell line.

T Sekiguchi, T Miyata, T Nishimoto

EMBO J. 1988 Jun; 7(6): 1683–1687. doi: 10.1002/j.1460-2075.1988.tb02996.x

PMCID:: PMC457153

Summary Page Browse PDF–848K

Select item 3601843.

The human CCG1 gene, essential for progression of the G1 phase, encodes a 210-kilodalton nuclear DNA-binding protein.

T Sekiguchi, Y Nohiro, Y Nakamura, N Hisamoto, T Nishimoto

Mol Cell Biol. 1991 Jun; 11(6): 3317–3325. doi: 10.1128/mcb.11.6.3317

PMCID:: PMC360184

Summary Page Browse PDF–2.0M

Select item 1935644.

Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism

Dagmar Nolte, Stephan Niemann, Ulrich Müller

Proc Natl Acad Sci U S A. 2003 Sep 2; 100(18): 10347–10352. Published online 2003 Aug 19. doi: 10.1073/pnas.1831949100

PMCID:: PMC193564

Abstract Article PDF–423K

Select item 69489805.

Neuronal-specific microexon splicing of TAF1 mRNA is directly regulated by SRRM4/nSR100

Simona Capponi, Nadja Stöffler, Manuel Irimia, Frederik M.A. Van Schaik, Mercedes M. Ondik, Martin L. Biniossek, Lisa Lehmann, Julia Mitschke, Marit W. Vermunt, Menno P. Creyghton, Ann M. Graybiel, Thomas Reinheckel, Oliver Schilling, Benjamin J. Blencowe, Jill R. Crittenden, H. Th. Marc Timmers

RNA Biol. 2020; 17(1): 62–74. Published online 2019 Sep 27. doi: 10.1080/15476286.2019.1667214

PMCID:: PMC6948980

Abstract Article PDF–5.4M

Select item 61744586.

Genetic Identification in Early Onset Parkinsonism among Norwegian Patients

Emil K. Gustavsson, Joanne Trinh, Marna McKenzie, Stephanie Bortnick, Maria Skaalum Petersen, Matthew J. Farrer, Jan O. Aasly

Mov Disord Clin Pract. 2017 Jul-Aug; 4(4): 499–508. Published online 2017 May 23. doi: 10.1002/mdc3.12501

PMCID:: PMC6174458

Abstract Article PDF–357K

Select item 45736527.

Splicing: is there an alternative contribution to Parkinson’s disease?

Valentina La Cognata, Velia D’Agata, Francesca Cavalcanti, Sebastiano Cavallaro

Neurogenetics. 2015; 16: 245–263. Published online 2015 May 16. doi: 10.1007/s10048-015-0449-x

PMCID:: PMC4573652

Abstract Article PDF–923K

Select item 45483088.

Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours

Sarah F. Barclay, Casey M. Rand, Lauren A. Borch, Lisa Nguyen, Paul A. Gray, William T. Gibson, Richard J. A. Wilson, Paul M. K. Gordon, Zaw Aung, Elizabeth M. Berry-Kravis, Diego Ize-Ludlow, Debra E. Weese-Mayer, N. Torben Bech-Hansen

Orphanet J Rare Dis. 2015; 10: 103. Published online 2015 Aug 25. doi: 10.1186/s13023-015-0314-x

PMCID:: PMC4548308

Abstract Article PDF–503K

Select item 43828039.

SeqHBase: a big data toolset for family based sequencing data analysis

Min He, Thomas N Person, Scott J Hebbring, Ethan Heinzen, Zhan Ye, Steven J Schrodi, Elizabeth W McPherson, Simon M Lin, Peggy L Peissig, Murray H Brilliant, Jason O'Rawe, Reid J Robison, Gholson J Lyon, Kai Wang

J Med Genet. 2015 Apr; 52(4): 282–288. Published online 2015 Jan 13. doi: 10.1136/jmedgenet-2014-102907