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Items: 19

1.
Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development
Roslyn J. Simms, Ann Marie Hynes, Lorraine Eley, David Inglis, Bill Chaudhry, Helen R. Dawe, John A. Sayer
Cell Mol Life Sci. 2012 Mar; 69(6): 993–1009. Published online 2011 Sep 29. doi: 10.1007/s00018-011-0826-z
PMCID:
PMC11115044
AbstractArticlePDF–2.2M
2.
SPATA7 maintains a novel photoreceptor-specific zone in the distal connecting cilium
Rachayata Dharmat, Aiden Eblimit, Michael A. Robichaux, Zhixian Zhang, Thanh-Minh T. Nguyen, Sung Yun Jung, Feng He, Antrix Jain, Yumei Li, Jun Qin, Paul Overbeek, Ronald Roepman, Graeme Mardon, Theodore G. Wensel, Rui Chen
J Cell Biol. 2018 Aug 6; 217(8): 2851–2865. doi: 10.1083/jcb.201712117
PMCID:
PMC6080925
AbstractArticlePDF–2.8M
3.
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
4.
Loss of Ahi1 Affects Early Development by Impairing BM88/Cend1-Mediated Neuronal Differentiation
Ling Weng, Yung-Feng Lin, Alina L. Li, Chuan-En Wang, Sen Yan, Miao Sun, Marta A. Gaertig, Naureen Mitha, Jun Kosaka, Taketoshi Wakabayashi, Xingshun Xu, Beisha Tang, Shihua Li, Xiao-Jiang Li
J Neurosci. 2013 May 8; 33(19): 8172–8184. doi: 10.1523/JNEUROSCI.0119-13.2013
PMCID:
PMC3703472
AbstractArticlePDF–3.8M
5.
The Joubert Syndrome-associated Missense Mutation (V443D) in the Abelson-helper Integration Site 1 (AHI1) Protein Alters Its Localization and Protein-Protein Interactions
Karina Tuz, Yi-Chun Hsiao, Oscar Juárez, Bingxing Shi, Erin Y. Harmon, Ian G. Phelps, Michelle R. Lennartz, Ian A. Glass, Dan Doherty, Russell J. Ferland
J Biol Chem. 2013 May 10; 288(19): 13676–13694. Published online 2013 Mar 26. doi: 10.1074/jbc.M112.420786
PMCID:
PMC3650405
AbstractArticlePDF–4.7M
6.
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
7.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M
8.
Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome
Madeline A. Lancaster, Dipika J. Gopal, Joon Kim, Sahar N. Saleem, Jennifer L. Silhavy, Carrie M. Louie, Bryan E. Thacker, Yuko Williams, Maha S. Zaki, Joseph G. Gleeson
Nat Med. Author manuscript; available in PMC 2011 Dec 1.
Published in final edited form as: Nat Med. 2011 Jun; 17(6): 726–731. Published online 2011 May 29. doi: 10.1038/nm.2380
PMCID:
PMC3110639
AbstractArticlePDF–1.6M
9.
Neuronal Abelson helper integration site-1 (Ahi1) deficiency in mice alters TrkB signaling with a depressive phenotype
Xingshun Xu, Hao Yang, Yung-Feng Lin, Xiang Li, Austin Cape, Kerry J. Ressler, Shihua Li, Xiao-Jiang Li
Proc Natl Acad Sci U S A. 2010 Nov 2; 107(44): 19126–19131. Published online 2010 Oct 18. doi: 10.1073/pnas.1013032107
PMCID:
PMC2973903
AbstractArticlePDF–762K
10.
Retinal Degeneration and Failure of Photoreceptor Outer Segment Formation in Mice with Targeted Deletion of the Joubert Syndrome Gene, Ahi1
Jennifer E. Westfall, Carlton Hoyt, Qin Liu, Yi-Chun Hsiao, Eric A. Pierce, Patrick S. Page-McCaw, Russell J. Ferland
J Neurosci. 2010 Jun 30; 30(26): 8759–8768. doi: 10.1523/JNEUROSCI.5229-09.2010
PMCID:
PMC2923804
AbstractArticlePDF–3.8M
11.
Impaired Wnt–β-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy
Madeline A Lancaster, Carrie M Louie, Jennifer L Silhavy, Louis Sintasath, Marvalyn DeCambre, Sanjay K Nigam, Karl Willert, Joseph G Gleeson
Nat Med. Author manuscript; available in PMC 2010 Jul 2.
Published in final edited form as: Nat Med. 2009 Sep; 15(9): 1046–1054. Published online 2009 Aug 30. doi: 10.1038/nm.2010
PMCID:
PMC2895985
AbstractArticlePDF–1.6M
12.
AHI1 is required for outer segment development and is a modifier for retinal degeneration in nephronophthisis
Carrie M Louie, Gianluca Caridi, Vanda S Lopes, Francesco Brancati, Andreas Kispert, Madeline A Lancaster, Andrew M Schlossman, Edgar A Otto, Michael Leitges, Hermann-Josef Groene, Irma Lopez, Harini V Gudiseva, John F O’Toole, Elena Vallespin, Radha Ayyagari, Carmen Ayuso, Frans P Cremers, Anneke I den Hollander, Robert K Koenekoop, Bruno Dallapiccola, Gian Marco Ghiggeri, Friedhelm Hildebrandt, Enza Maria Valente, David S Williams, Joseph G Gleeson
Nat Genet. Author manuscript; available in PMC 2010 Aug 1.
Published in final edited form as: Nat Genet. 2010 Feb; 42(2): 175–180. Published online 2010 Jan 17. doi: 10.1038/ng.519
PMCID:
PMC2884967
AbstractArticlePDF–790K
13.
Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking
Yi-Chun Hsiao, Zachary J. Tong, Jennifer E. Westfall, Jeffrey G. Ault, Patrick S. Page-McCaw, Russell J. Ferland
Hum Mol Genet. 2009 Oct 15; 18(20): 3926–3941. Published online 2009 Jul 22. doi: 10.1093/hmg/ddp335
PMCID:
PMC2748898
AbstractArticlePDF–712K
14.
Association of common variants in the Joubert syndrome gene (AHI1) with autism
Ana I. Alvarez Retuerto, Rita M. Cantor, Joseph G. Gleeson, Anna Ustaszewska, Wendy S. Schackwitz, Len A. Pennacchio, Daniel H. Geschwind
Hum Mol Genet. 2008 Dec 15; 17(24): 3887–3896. Published online 2008 Sep 9. doi: 10.1093/hmg/ddn291
PMCID:
PMC2638573
AbstractArticlePDF–360K
15.
AHI-1 interacts with BCR-ABL and modulates BCR-ABL transforming activity and imatinib response of CML stem/progenitor cells
Liang L. Zhou, Yun Zhao, Ashley Ringrose, Donna DeGeer, Erin Kennah, Ann E.-J. Lin, Guoqing Sheng, Xiao-Jiang Li, Ali Turhan, Xiaoyan Jiang
J Exp Med. 2008 Oct 27; 205(11): 2657–2671. doi: 10.1084/jem.20072316
PMCID:
PMC2571939
AbstractArticlePDF–2.4M
16.
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome
M A Parisi, D Doherty, M L Eckert, D W W Shaw, H Ozyurek, S Aysun, O Giray, A Al Swaid, S Al Shahwan, N Dohayan, E Bakhsh, O S Indridason, W B Dobyns, C L Bennett, P F Chance, I A Glass
J Med Genet. 2006 Apr; 43(4): 334–339. Published online 2005 Sep 9. doi: 10.1136/jmg.2005.036608
PMCID:
PMC2563230
AbstractArticlePDF–307K
17.
Huntingtin-associated protein 1 interacts with Ahi1 to regulate cerebellar and brainstem development in mice
Guoqing Sheng, Xingshun Xu, Yung-Feng Lin, Chuan-En Wang, Juan Rong, Dongmei Cheng, Junmin Peng, Xiaoyan Jiang, Shi-Hua Li, Xiao-Jiang Li
J Clin Invest. 2008 Aug 1; 118(8): 2785–2795. Published online 2008 Jul 17. doi: 10.1172/JCI35339
PMCID:
PMC2467384
AbstractArticlePDF–1.2M
18.
Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria
Tracy Dixon-Salazar, Jennifer L. Silhavy, Sarah E. Marsh, Carrie M. Louie, Lesley C. Scott, Aithala Gururaj, Lihadh Al-Gazali, Asma A. Al-Tawari, Hulya Kayserili, László Sztriha, Joseph G. Gleeson
Am J Hum Genet. 2004 Dec; 75(6): 979–987. Published online 2004 Oct 4. doi: 10.1086/425985
PMCID:
PMC1182159
AbstractArticlePDF–515K
19.
Ahi-1, a Novel Gene Encoding a Modular Protein with WD40-Repeat and SH3 Domains, Is Targeted by the Ahi-1 and Mis-2 Provirus Integrations
Xiaoyan Jiang, Zaher Hanna, Mohammadi Kaouass, Luc Girard, Paul Jolicoeur
J Virol. 2002 Sep; 76(18): 9046–9059. doi: 10.1128/JVI.76.18.9046-9059.2002
PMCID:
PMC136442
AbstractArticlePDF–1.3M

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