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Items: 1 to 20 of 56

1.
Abelson Helper Integration Site 1 haplotypes and peripheral blood expression associates with lithium response and immunomodulation in bipolar patients
Kosma Sakrajda, Karolina Bilska, Piotr M. Czerski, Beata Narożna, Monika Dmitrzak-Węglarz, Stefanie Heilmann-Heimbach, Felix F. Brockschmidt, Stefan Herms, Markus M. Nöthen, Sven Cichon, Barbara Więckowska, Janusz K. Rybakowski, Joanna Pawlak, Aleksandra Szczepankiewicz
Psychopharmacology (Berl) 2024; 241(4): 727–738. Published online 2023 Dec 1. doi: 10.1007/s00213-023-06505-5
PMCID:
PMC10927850
AbstractArticlePDF–1.1M
2.
LINE-1 ORF1 Protein Is Up-regulated by Reactive Oxygen Species and Associated with Bladder Urothelial Carcinoma Progression
PATCHARAWALAI WHONGSIRI, CHAOWAT PIMRATANA, UDOMSAK WIJITSETTAKUL, DEPICHA JINDATIP, ANAPAT SANPAVAT, WOLFGANG A SCHULZ, MICHÈLE J HOFFMANN, WOLFGANG GOERING, CHANCHAI BOONLA
Cancer Genomics Proteomics. 2018 Mar-Apr; 15(2): 143–151. Published online 2018 Mar 2. doi: 10.21873/cgp.20072
PMCID:
PMC5892605
AbstractArticlePDF–742K
3.
The multiple sclerosis risk allele within the AHI1 gene is associated with relapses in children and adults
Jennifer S. Graves, Lisa F. Barcellos, Steve Simpson, Jr., Anita Belman, Rui Lin, Bruce V Taylor, Anne-Louise Ponsonby, Terence Dwyer, Lauren Krupp, Emmanuelle Waubant, Ingrid A F van der Mei
Mult Scler Relat Disord. Author manuscript; available in PMC 2019 Jan 1.
Published in final edited form as: Mult Scler Relat Disord. 2018 Jan; 19: 161–165. Published online 2017 Oct 14. doi: 10.1016/j.msard.2017.10.008
PMCID:
PMC5806144
AbstractArticlePDF–329K
4.
Truncated ORF1 proteins can suppress LINE-1 retrotransposition in trans
Mark Sokolowski, May Chynces, Dawn deHaro, Claiborne M. Christian, Victoria P. Belancio
Nucleic Acids Res. 2017 May 19; 45(9): 5294–5308. Published online 2017 Apr 20. doi: 10.1093/nar/gkx211
PMCID:
PMC5605252
AbstractArticlePDF–2.4M
5.
Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa
Thanh-Minh T Nguyen, Sarah Hull, Ronald Roepman, L Ingeborgh van den Born, Machteld M Oud, Erik de Vrieze, Lisette Hetterschijt, Stef J F Letteboer, Sylvia E C van Beersum, Ellen A Blokland, Helger G Yntema, Frans P M Cremers, Paul A van der Zwaag, Gavin Arno, Erwin van Wijk, Andrew R Webster, Lonneke Haer-Wigman
J Med Genet. 2017 Sep; 54(9): 624–632. Published online 2017 Apr 25. doi: 10.1136/jmedgenet-2016-104200
PMCID:
PMC5574394
AbstractArticlePDF–1.7M
6.
Somatically acquired LINE-1 insertions in normal esophagus undergo clonal expansion in esophageal squamous cell carcinoma
Tara T. Doucet-O’Hare, Reema Sharmad, Nemanja Rodić, Robert A. Anders, Kathleen H. Burns, Haig H. Kazazian, Jr.
Hum Mutat. Author manuscript; available in PMC 2017 Sep 1.
Published in final edited form as: Hum Mutat. 2016 Sep; 37(9): 942–954. Published online 2016 Jul 13. doi: 10.1002/humu.23027
PMCID:
PMC5548391
AbstractArticlePDF–565K
7.
Common variants at PVT1, ATG13–AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency
Paola G. Bronson, Diana Chang, Tushar Bhangale, Michael F. Seldin, Ward Ortmann, Ricardo C. Ferreira, Elena Urcelay, Luis Fernández Pereira, Javier Martin, Alessandro Plebani, Vassilios Lougaris, Vanda Friman, Tomáš Freiberger, Jiri Litzman, Vojtech Thon, Qiang Pan-Hammarström, Lennart Hammarström, Robert R. Graham, Timothy W. Behrens
Nat Genet. Author manuscript; available in PMC 2017 Apr 10.
Published in final edited form as: Nat Genet. 2016 Nov; 48(11): 1425–1429. Published online 2016 Oct 10. doi: 10.1038/ng.3675
PMCID:
PMC5086090
AbstractArticlePDF–911K
8.
The Influence of AHI1 Variants on the Diagnosis and Treatment Outcome in Schizophrenia
Stefano Porcelli, Chi-Un Pae, Changsu Han, Soo-Jung Lee, Ashwin A. Patkar, Prakash S. Masand, Beatrice Balzarro, Siegfried Alberti, Diana De Ronchi, Alessandro Serretti
Int J Mol Sci. 2015 Feb; 16(2): 2517–2529. Published online 2015 Jan 22. doi: 10.3390/ijms16022517
PMCID:
PMC4346849
AbstractArticlePDF–1.0M
9.
Targeting Primitive Chronic Myeloid Leukemia Cells by Effective Inhibition of a New AHI-1–BCR-ABL–JAK2 Complex
Min Chen, Paolo Gallipoli, Donna DeGeer, Ivan Sloma, Donna L. Forrest, Matthew Chan, Damian Lai, Heather Jorgensen, Ashley Ringrose, Hui Mi Wang, Karen Lambie, Helen Nakamoto, Kyi Min Saw, Ali Turhan, Ralph Arlinghaus, James Paul, Jon Stobo, Michael J. Barnett, Allen Eaves, Connie J Eaves, Tessa L. Holyoake, Xiaoyan Jiang
J Natl Cancer Inst. 2013 Mar 20; 105(6): 405–423. Published online 2013 Feb 27. doi: 10.1093/jnci/djt006
PMCID:
PMC3601953
AbstractArticlePDF–22M
10.
Impact of the AHI1 Gene on the Vulnerability to Schizophrenia: A Case-Control Association Study
Olga Rivero, Andreas Reif, Julio Sanjuán, María D. Moltó, Sarah Kittel-Schneider, Carmen Nájera, Theresia Töpner, Klaus-Peter Lesch
PLoS One. 2010; 5(8): e12254. Published online 2010 Aug 18. doi: 10.1371/journal.pone.0012254
PMCID:
PMC2923617
AbstractArticlePDF–618K
11.
A large replication study and meta-analysis in European samples provides further support for association of AHI1 markers with schizophrenia
Andrés Ingason, Ina Giegling, Sven Cichon, Thomas Hansen, Henrik B. Rasmussen, Jimmi Nielsen, Gesche Jürgens, Pierandrea Muglia, Annette M. Hartmann, Eric Strengman, Catalina Vasilescu, Thomas W. Mühleisen, Srdjan Djurovic, Ingrid Melle, Bernard Lerer, Hans-Jürgen Möller, Clyde Francks, Olli P.H. Pietiläinen, Jouko Lonnqvist, Jaana Suvisaari, Annamari Tuulio-Henriksson, Muriel Walshe, Evangelos Vassos, Marta Di Forti, Robin Murray, Chiara Bonetto, Sarah Tosato, GROUP Investigators, Rita M. Cantor, Marcella Rietschel, Nick Craddock, Michael J. Owen, Leena Peltonen, Ole A. Andreassen, Markus M. Nöthen, David St Clair, Roel A. Ophoff, Michael C. O'Donovan, David A. Collier, Thomas Werge, Dan Rujescu
Hum Mol Genet. 2010 Apr 1; 19(7): 1379–1386. Published online 2010 Jan 12. doi: 10.1093/hmg/ddq009
PMCID:
PMC2838541
AbstractArticlePDF–363K
12.
Expression, purification, crystallization and preliminary X-ray crystallographic analysis of the SH3 domain of human AHI1
Zhuliang Shi, Ning Liang, Wei Xu, Kuai Li, Guoqing Sheng, Jinsong Liu, Aimin Xu, Xiao-Jiang Li, Donghai Wu
Acta Crystallogr Sect F Struct Biol Cryst Commun. 2009 Apr 1; 65(Pt 4): 361–363. Published online 2009 Mar 21. doi: 10.1107/S174430910900774X
PMCID:
PMC2664760
AbstractArticlePDF–240K
13.
Homozygosity mapping of a third Joubert syndrome locus to 6q23
C Lagier-Tourenne, E Boltshauser, N Breivik, M Gribaa, C Betard, C Barbot, M Koenig
J Med Genet. 2004 Apr; 41(4): 273–277. doi: 10.1136/jmg.2003.014787
PMCID:
PMC1735723
SummaryPDF–436K
14.
Aicardi–Goutières syndrome protein TREX1 suppresses L1 and maintains genome integrity through exonuclease-independent ORF1p depletion
Peng Li, Juan Du, John L. Goodier, Jingwei Hou, Jian Kang, Haig H. Kazazian, Jr, Ke Zhao, Xiao-Fang Yu
Nucleic Acids Res. 2017 May 5; 45(8): 4619–4631. Published online 2017 Mar 15. doi: 10.1093/nar/gkx178
PMCID:
PMC5416883
AbstractArticlePDF–2.0M
15.
Identification of 2 Potentially Relevant Gene Mutations Involved in Strabismus Using Whole-Exome Sequencing
Xiangrong Min, Haiying Fan, Guiqiu Zhao, Guixiang Liu
Med Sci Monit. 2017; 23: 1719–1724. Published online 2017 Apr 9. doi: 10.12659/MSM.902823
PMCID:
PMC5395132
AbstractArticlePDF–409K
16.
The Role of AHI1 and CDKN1C in Cutaneous T-Cell Lymphoma Progression
Ivan V. Litvinov, Thomas S. Kupper, Denis Sasseville
Exp Dermatol. Author manuscript; available in PMC 2017 Jan 5.
Published in final edited form as: Exp Dermatol. 2012 Dec; 21(12): 964–966. doi: 10.1111/exd.12039
PMCID:
PMC5215484
AbstractArticlePDF–449K
17.
A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report
Siham Chafai-Elalaoui, Matthias Chalon, Nadia Elkhartoufi, Yamna Kriouele, Maria Mansouri, Tania Attié-Bitach, Abdelaziz Sefiani, Lekbir Baala
J Med Case Rep. 2015; 9: 254. Published online 2015 Nov 5. doi: 10.1186/s13256-015-0732-3
PMCID:
PMC4635607
AbstractArticlePDF–3.8M
18.
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene
Solaf M. Elsayed, Jennifer B. Phillips, Raoul Heller, Michaela Thoenes, Ezzat Elsobky, Gudrun Nürnberg, Peter Nürnberg, Saskia Seland, Inga Ebermann, Janine Altmüller, Holger Thiele, Mohammad Toliat, Friederike Körber, Xue-Jia Hu, Yun-Dong Wu, Maha S. Zaki, Ghada Abdel-Salam, Joseph Gleeson, Eugen Boltshauser, Monte Westerfield, Hanno J. Bolz
Hum Mol Genet. 2015 May 1; 24(9): 2594–2603. Published online 2015 Jan 23. doi: 10.1093/hmg/ddv022
PMCID:
PMC4383865
AbstractArticlePDF–825K
19.
Investigating Embryonic Expression Patterns and Evolution of AHI1 and CEP290 Genes, Implicated in Joubert Syndrome
Yu-Zhu Cheng, Lorraine Eley, Ann-Marie Hynes, Lynne M. Overman, Roslyn J. Simms, Amy Barker, Helen R. Dawe, Susan Lindsay, John A. Sayer
PLoS One. 2012; 7(9): e44975. Published online 2012 Sep 24. doi: 10.1371/journal.pone.0044975
PMCID:
PMC3454386
AbstractArticlePDF–1.2M
20.
The characterisation of Abelson Helper Integration Site-1 in skeletal muscle and its links to the metabolic syndrome
Matthew J. Prior, Victoria C. Foletta, Jeremy B. Jowett, David H. Segal, Melanie A. Carless, Joanne E. Curran, Tom D. Dyer, Eric K. Moses, Andrew J. McAinch, Nicky Konstantopoulos, Kiymet Bozaoglu, Greg R. Collier, David Cameron-Smith, John Blangero, Ken R. Walder
Metabolism. Author manuscript; available in PMC 2012 Jan 2.
Published in final edited form as: Metabolism. 2010 Jul; 59(7): 1057–1064. Published online 2009 Dec 31. doi: 10.1016/j.metabol.2009.11.002
PMCID:
PMC3249385
AbstractArticlePDF–976K

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