PMC Links for Nucleotide (Select 1519311524) - PMC - NCBI

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Items: 6

Select item 63367721.

Variant in SCYL1 gene causes aberrant splicing in a family with cerebellar ataxia, recurrent episodes of liver failure, and growth retardation

Adi Shohet, Lior Cohen, Danielle Haguel, Yael Mozer, Noam Shomron, Shay Tzur, Lily Bazak, Lina Basel Salmon, Irit Krause

Eur J Hum Genet. 2019 Feb; 27(2): 263–268. Published online 2018 Sep 26. doi: 10.1038/s41431-018-0268-2

PMCID:: PMC6336772

Abstract Article PDF–688K

Select item 59899272.

SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)

Dominic Lenz, Patricia McClean, Aydan Kansu, Penelope E Bonnen, Giusy Ranucci, Christian Thiel, Beate K Straub, Inga Harting, Bader Alhaddad, Bianca Dimitrov, Urania Kotzaeridou, Daniel Wenning, Raffaele Iorio, Ryan W Himes, Zarife Kuloğlu, Emma L Blakely, Robert W Taylor, Thomas Meitinger, Stefan Kölker, Holger Prokisch, Georg F Hoffmann, Tobias B Haack, Christian Staufner

Genet Med. 2018; 20(10): 1255–1265. Published online 2018 Feb 8. doi: 10.1038/gim.2017.260

PMCID:: PMC5989927

Abstract Article PDF–4.4M

Select item 54535573.

SCYL1 does not regulate REST expression and turnover

Sebastien Gingras, Emin Kuliyev, Stéphane Pelletier

PLoS One. 2017; 12(6): e0178680. Published online 2017 Jun 1. doi: 10.1371/journal.pone.0178680

PMCID:: PMC5453557

Abstract Article PDF–2.8M

Select item 46784154.

Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia

Wolfgang M. Schmidt, S. Lane Rutledge, Rebecca Schüle, Benjamin Mayerhofer, Stephan Züchner, Eugen Boltshauser, Reginald E. Bittner

Am J Hum Genet. 2015 Dec 3; 97(6): 855–861. Published online 2015 Nov 12. doi: 10.1016/j.ajhg.2015.10.011

PMCID:: PMC4678415

Abstract Article PDF–1.1M

Select item 43593195.

Overexpression of N-terminal kinase like gene promotes tumorigenicity of hepatocellular carcinoma by regulating cell cycle progression and cell motility

Jian Wang, Ming Liu, Leilei Chen, Tim Hon Man Chan, Lingxi Jiang, Yun-Fei Yuan, Xin-Yuan Guan

Oncotarget. 2015 Jan; 6(3): 1618–1630. Published online 2015 Jan 10. doi: 10.18632/oncotarget.2730

PMCID:: PMC4359319

Abstract Article PDF–7.1M

Select item 63978146.

Recurrent acute liver failure associated with novel SCYL1 mutation: A case report

Jia-Qi Li, Jing-Yu Gong, A S Knisely, Mei-Hong Zhang, Jian-She Wang

World J Clin Cases. 2019 Feb 26; 7(4): 494–499. Published online 2019 Feb 26. doi: 10.12998/wjcc.v7.i4.494

PMCID:: PMC6397814

Abstract Article PDF–380K

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