PMC Links for Gene (Select 1123) - PMC

Tai-Cheng Zhou, Wen-Hua Duan, Xiao-Lin Fu, Qin Zhu, Li-Yun Guo, Yuan Zhou, Zhi-Juan Hua, Xue-Jiao Li, Dong-Mei Yang, Jie-Ying Zhang, Jie Yin, Xiao-Fan Zhang, Guang-Long Zhou, Min Hu

Sci Rep. 2020; 10: 16225. Published online 2020 Oct 1. doi: 10.1038/s41598-020-73190-1

PMCID:: PMC7531002

Abstract Article PDF–2.3M

Select item 67628534.

α2-Chimaerin, a Cdc42/Rac1 Regulator, Is Selectively Expressed in the Rat Embryonic Nervous System and Is Involved in Neuritogenesis in N1E-115 Neuroblastoma Cells

Christine Hall, Gregory J. Michael, Nansi Cann, Giovanna Ferrari, Mabel Teo, Tom Jacobs, Clinton Monfries, Louis Lim

J Neurosci. 2001 Jul 15; 21(14): 5191–5202. doi: 10.1523/JNEUROSCI.21-14-05191.2001

PMCID:: PMC6762853

Abstract Article PDF–684K

Select item 43825175.

Alpha1-chimaerin, a Rac1 GTPase-activating protein, is expressed at reduced mRNA levels in the brain of Alzheimer's disease patients

Tomoko Kato, Yoshihiro Konishi, Shun Shimohama, Thomas G. Beach, Hiroyasu Akatsu, Ikuo Tooyama

Neurosci Lett. Author manuscript; available in PMC 2016 Mar 30.

Published in final edited form as: Neurosci Lett. 2015 Mar 30; 591: 19–24. Published online 2015 Feb 9. doi: 10.1016/j.neulet.2015.02.013

PMCID:: PMC4382517

Abstract Article PDF–617K

Select item 35171736.

Two novel CHN1 mutations in two families with Duane’s retraction syndrome

Ms Wai-Man Chan, Dr Noriko Miyake, Dr Lily Zhu-Tam, Ms Caroline Andrews, Dr Elizabeth C. Engle

Arch Ophthalmol. Author manuscript; available in PMC 2012 Dec 7.

Published in final edited form as: Arch Ophthalmol. 2011 May; 129(5): 649–652. doi: 10.1001/archophthalmol.2011.84

PMCID:: PMC3517173

Abstract Article PDF–1.2M

Select item 31759927.

Expansion of the CHN1 Strabismus Phenotype

Noriko Miyake, Joseph L. Demer, Sherin Shaaban, Caroline Andrews, Wai-Man Chan, Stephen P. Christiansen, David G. Hunter, Elizabeth C. Engle

Invest Ophthalmol Vis Sci. 2011 Aug; 52(9): 6321–6328. Published online 2011 Aug 11. doi: 10.1167/iovs.11-7950

PMCID:: PMC3175992

Abstract Article PDF–2.1M

Select item 28292958.

Two pedigrees segregating Duane’s retraction syndrome as a dominant trait map to the DURS2 genetic locus

Elizabeth C. Engle, Caroline Andrews, Krystal Law, Joseph L. Demer

Invest Ophthalmol Vis Sci. Author manuscript; available in PMC 2010 Feb 26.

Published in final edited form as: Invest Ophthalmol Vis Sci. 2007 Jan; 48(1): 189–193. doi: 10.1167/iovs.06-0631

PMCID:: PMC2829295

Abstract Article PDF–196K

Select item 28018899.

CHN1 Mutations are not a Common Cause of Sporadic Duane’s Retraction Syndrome

Noriko Miyake, Caroline Andrews, Wen Fan, Wei He, Wai-Man Chan, Elizabeth C. Engle

Am J Med Genet A. Author manuscript; available in PMC 2011 Jan 1.

Published in final edited form as: Am J Med Genet A. 2010 Jan; 152A(1): 215–217. doi: 10.1002/ajmg.a.33168

PMCID:: PMC2801889

Article PDF–50K

Select item 270225810.

Clinical features associated with an I126M α2-chimaerin mutation in a family with autosomal dominant Duane retraction syndrome

Claudia E. Murillo-Correa, Veronica Kon-Jara, Elizabeth C. Engle, Juan C. Zenteno

J AAPOS. Author manuscript; available in PMC 2010 Jun 1.

Published in final edited form as: J AAPOS. 2009 Jun; 13(3): 245–248. doi: 10.1016/j.jaapos.2009.03.007

PMCID:: PMC2702258

Abstract Article PDF–148K

Select item 259639411.

Identification of an Autoinhibitory Mechanism That Restricts C1 Domain-mediated Activation of the Rac-GAP α2-Chimaerin

Francheska Colón-González, Federico Coluccio Leskow, Marcelo G. Kazanietz

J Biol Chem. 2008 Dec 12; 283(50): 35247–35257. doi: 10.1074/jbc.M806264200

PMCID:: PMC2596394

Abstract Article PDF–1.2M

Select item 185062912.

Magnetic Resonance Imaging Evidence for Widespread Orbital Dysinnervation in Dominant Duane’s Retraction Syndrome Linked to the DURS2 Locus

Joseph L. Demer, Robert A. Clark, Key-Hwan Lim, Elizabeth C. Engle

Invest Ophthalmol Vis Sci. Author manuscript; available in PMC 2008 Jan 1.

Published in final edited form as: Invest Ophthalmol Vis Sci. 2007 Jan; 48(1): 194–202. doi: 10.1167/iovs.06-0632

PMCID:: PMC1850629

Abstract Article PDF–958K

Select item 128837413.

Localization of a Gene for Duane Retraction Syndrome to Chromosome 2q31

Binoy Appukuttan, Elizabeth Gillanders, Suh-Hang Juo, Diana Freas-Lutz, Sandra Ott, Raman Sood, Ann Van Auken, Joan Bailey-Wilson, Xiaoguang Wang, Reshma J. Patel, Christiane M. Robbins, Mina Chung, Geralyn Annett, Kenneth Weinberg, Mark S. Borchert, Jeffrey M. Trent, Michael J. Brownstein, J. Timothy Stout

Am J Hum Genet. 1999 Dec; 65(6): 1639–1646. Published online 1999 Nov 18. doi: 10.1086/302656

PMCID:: PMC1288374

Abstract Article PDF–401K

Select item 115020914.

Human brain n-chimaerin cDNA encodes a novel phorbol ester receptor.

S Ahmed, R Kozma, C Monfries, C Hall, H H Lim, P Smith, L Lim

Biochem J. 1990 Dec 15; 272(3): 767–773. doi: 10.1042/bj2720767

PMCID:: PMC1150209

Summary Page Browse PDF–1.4M

Select item 36014415.

Alpha 2-chimerin, an SH2-containing GTPase-activating protein for the ras-related protein p21rac derived by alternate splicing of the human n-chimerin gene, is selectively expressed in brain regions and testes.

C Hall, W C Sin, M Teo, G J Michael, P Smith, J M Dong, H H Lim, E Manser, N K Spurr, T A Jones, et al.

Mol Cell Biol. 1993 Aug; 13(8): 4986–4998. doi: 10.1128/mcb.13.8.4986

PMCID:: PMC360144

Summary Page Browse PDF–3.8M

Select item 759047916.

Upregulation of miR-205 induces CHN1 expression, which is associated with the aggressive behaviour of cervical cancer cells and correlated with lymph node metastasis

Jianbing Liu, Yunfeng Li, Xihua Chen, Xiangbo Xu, Haoqi Zhao, Shufang Wang, Jianqing Hao, Bin He, Shuyan Liu, Jiedong Wang

BMC Cancer. 2020; 20: 1029. Published online 2020 Oct 27. doi: 10.1186/s12885-020-07478-w

PMCID:: PMC7590479

Abstract Article PDF–3.7M

Select item 577715117.

The discovery and validation of biomarkers for the diagnosis of esophageal squamous dysplasia and squamous cell carcinoma

George Couch, James E Redman, Lorenz Wernisch, Richard Newton, Shalini Malhotra, Sanford M Dawsey, Pierre Lao-Sirieix, Rebecca C Fitzgerald

Cancer Prev Res (Phila) Author manuscript; available in PMC 2018 Jan 22.

Published in final edited form as: Cancer Prev Res (Phila). 2016 Jul; 9(7): 558–566. Published online 2016 Apr 12. doi: 10.1158/1940-6207.CAPR-15-0379

PMCID:: PMC5777151

Abstract Article PDF–1.3M

Select item 541023818.

Prognostic significance of serum chemerin levels in patients with non-small cell lung cancer

Chun-Hua Xu, Yang Yang, Yu-Chao Wang, Jun Yan, Li-Hua Qian

Oncotarget. 2017 Apr 4; 8(14): 22483–22489. Published online 2017 Feb 1. doi: 10.18632/oncotarget.14956

PMCID:: PMC5410238

Abstract Article PDF–1.3M

Select item 113318119.

Developmental regulation and neuronal expression of the mRNA of rat n-chimaerin, a p21rac GAP:cDNA sequence.

H H Lim, G J Michael, P Smith, L Lim, C Hall

Biochem J. 1992 Oct 15; 287(Pt 2): 415–422. doi: 10.1042/bj2870415

PMCID:: PMC1133181

Summary Page Browse PDF–3.1M

Select item 259386720.

Human CHN1 mutations hyperactivate α2-chimaerin and cause Duane’s retraction syndrome

Noriko Miyake, John Chilton, Maria Psatha, Long Cheng, Caroline Andrews, Wai-Man Chan, Krystal Law, Moira Crosier, Susan Lindsay, Michelle Cheung, James Allen, Nick J Gutowski, Sian Ellard, Elizabeth Young, Alessandro Iannaccone, Binoy Appukuttan, J. Timothy Stout, Stephen Christiansen, Maria Laura Ciccarelli, Alfonso Baldi, Mara Campioni, Juan C. Zenteno, Dominic Davenport, Laura E. Mariani, Mustafa Sahin, Sarah Guthrie, Elizabeth C. Engle

Science. Author manuscript; available in PMC 2009 Feb 8.

Published in final edited form as: Science. 2008 Aug 8; 321(5890): 839–843. Published online 2008 Jul 24. doi: 10.1126/science.1156121

PMCID:: PMC2593867

Abstract Article PDF–2.4M

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