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Items: 5

1.
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
AbstractArticlePDF–3.7M
2.
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
AbstractArticlePDF–1.6M
3.
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
AbstractArticlePDF–2.6M
4.
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
AbstractArticlePDF–226K
5.
Development of a Ligand-Directed Approach To Study the Pathogenesis of Invasive Aspergillosis
Michail S. Lionakis, Johanna Lahdenranta, Jessica Sun, Wei Liu, Russell E. Lewis, Nathaniel D. Albert, Renata Pasqualini, Wadih Arap, Dimitrios P. Kontoyiannis
Infect Immun. 2005 Nov; 73(11): 7747–7758. doi: 10.1128/IAI.73.11.7747-7758.2005
PMCID:
PMC1273901
AbstractArticlePDF–485K

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