PMC Links for Nucleotide (Select 1519314014) - PMC

Select item 67524781.

ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder

Lloyd B. Williams, Asif Javed, Amin Sabri, Denise J. Morgan, Chad D. Huff, John R. Grigg, Xiu Ting Heng, Alexis J. Khng, Iris H. I. M. Hollink, Margaux A. Morrison, Leah A. Owen, Katherine Anderson, Krista Kinard, Rebecca Greenlees, Danica Novacic, H. Nida Sen, Wadih M. Zein, George M. Rodgers, Albert T. Vitale, Neena B. Haider, Axel M. Hillmer, Pauline C. Ng, Shankaracharya, Anson Cheng, Linda Zheng, Mark C. Gillies, Marjon van Slegtenhorst, P. Martin van Hagen, Tom O. A. R. Missotten, Gary L. Farley, Michael Polo, James Malatack, Julie Curtin, Frank Martin, Susan Arbuckle, Stephen I. Alexander, Megan Chircop, Sonia Davila, Kathleen B. Digre, Robyn V. Jamieson, Margaret M. DeAngelis

Genet Med. 2019; 21(9): 2103–2115. Published online 2019 Apr 10. doi: 10.1038/s41436-019-0476-3

PMCID:: PMC6752478

Abstract Article PDF–3.7M

Select item 65252462.

ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma

Mamunur Rashid, Michiel van der Horst, Thomas Mentzel, Francesca Butera, Ingrid Ferreira, Alena Pance, Arno Rütten, Bostjan Luzar, Zlatko Marusic, Nicolas de Saint Aubain, Jennifer S. Ko, Steven D. Billings, Sofia Chen, Marie Abi Daoud, James Hewinson, Sandra Louzada, Paul W. Harms, Guia Cerretelli, Carla Daniela Robles-Espinoza, Rajiv M. Patel, Louise van der Weyden, Chris Bakal, Jason L. Hornick, Mark J. Arends, Thomas Brenn, David J. Adams

Nat Commun. 2019; 10: 2213. Published online 2019 May 17. doi: 10.1038/s41467-019-09979-0

PMCID:: PMC6525246

Abstract Article PDF–1.6M

Select item 30305343.

Motor coordination deficits in Alpk1 mutant mice with the inserted piggyBac transposon

Muyun Chen, Rener Xu

BMC Neurosci. 2011; 12: 1. Published online 2011 Jan 5. doi: 10.1186/1471-2202-12-1

PMCID:: PMC3030534

Abstract Article PDF–2.6M

Select item 28768844.

A systematic gene-based screen of chr4q22–q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts

Gursharan Kalsi, Po-Hsiu Kuo, Fazil Aliev, Jeffry Alexander, Omari McMichael, Diana G. Patterson, Dermot Walsh, Zhongming Zhao, Marc Schuckit, John Nurnberger, Jr, Howard Edenberg, John Kramer, Vladimir Vladimirov, Carol A. Prescott, Danielle M. Dick, Kenneth S. Kendler, Brien P. Riley

Hum Mol Genet. 2010 Jun 15; 19(12): 2497–2506. Published online 2010 Mar 23. doi: 10.1093/hmg/ddq112

Correction in:: Hum Mol Genet. 2010 Oct 15; 19(20): 4121.

PMCID:: PMC2876884

Abstract Article PDF–226K

Select item 33985045.

Repression of genes involved in melanocyte differentiation in uveal melanoma

Marjorie-Allison Bergeron, Sophie Champagne, Manon Gaudreault, Alexandre Deschambeault, Solange Landreville

Mol Vis. 2012; 18: 1813–1822. Published online 2012 Jul 4.

PMCID:: PMC3398504

Abstract Article PDF–2.8M

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