PMC Links for Nucleotide (Select 1675149711) - 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 53126425.

DNA methylation data for identification of epigenetic targets of resveratrol in triple negative breast cancer cells

Rubiceli Medina-Aguilar, Carlos Pérez-Plasencia, Patricio Gariglio, Laurence A. Marchat, Ali Flores-Pérez, César López-Camarillo, Jaime García Mena

Data Brief. 2017 Apr; 11: 169–182. Published online 2017 Feb 9. doi: 10.1016/j.dib.2017.02.006

PMCID:: PMC5312642

Abstract Article PDF–431K

Select item 33353146.

Expression profiling of uterine leiomyomata cytogenetic subgroups reveals distinct signatures in matched myometrium: transcriptional profiling of the t(12;14) and evidence in support of predisposing genetic heterogeneity

Jennelle C. Hodge, Tae-Min Kim, Jonathan M. Dreyfuss, Priya Somasundaram, Nicole C. Christacos, Marissa Rousselle, Bradley J. Quade, Peter J. Park, Elizabeth A. Stewart, Cynthia C. Morton

Hum Mol Genet. 2012 May 15; 21(10): 2312–2329. Published online 2012 Feb 17. doi: 10.1093/hmg/dds051

PMCID:: PMC3335314

Abstract Article PDF–671K

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