PMC Links for Nucleotide (Select 1519242877) - PMC

Select item 60785981.

Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E

Kollu N. Rao, Wei Zhang, Linjing Li, Manisha Anand, Hemant Khanna

Hum Mol Genet. 2016 Oct 15; 25(20): 4533–4545. Published online 2016 Aug 22. doi: 10.1093/hmg/ddw281

PMCID:: PMC6078598

Abstract Article PDF–1.3M

Select item 57835182.

Upregulation of miR-598 promotes cell proliferation and cell cycle progression in human colorectal carcinoma by suppressing INPP5E expression

Kun-Ping Li, Yong-Ping Fang, Jin-Qi Liao, Jin-Dong Duan, Li-Guang Feng, Xiao-Zai Luo, Zhi-Jian Liang

Mol Med Rep. 2018 Feb; 17(2): 2991–2997. Published online 2017 Dec 6. doi: 10.3892/mmr.2017.8207

PMCID:: PMC5783518

Abstract Article PDF–1.5M

Select item 53355103.

INPP5E Preserves Genomic Stability through Regulation of Mitosis

Elizabeth A. Sierra Potchanant, Donna Cerabona, Zahi Abdul Sater, Ying He, Zejin Sun, Jeff Gehlhausen, Grzegorz Nalepa

Mol Cell Biol. 2017 Mar 15; 37(6): e00500-16. Prepublished online 2016 Dec 28. Published online 2017 Mar 1. doi: 10.1128/MCB.00500-16

Correction in:: Mol Cell Biol. 2017 Oct 15; 37(20): e00389-17.

PMCID:: PMC5335510

Abstract Article PDF–6.5M

Select item 12883774.

Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity

Kathrin Saar, Lihadh Al-Gazali, László Sztriha, Franz Rueschendorf, Mohammed Nur-E-Kamal, André Reis, Riad Bayoumi

Am J Hum Genet. 1999 Dec; 65(6): 1666–1671. Published online 1999 Nov 22. doi: 10.1086/302655

PMCID:: PMC1288377

Abstract Article PDF–322K

Select item 52978705.

Screening of Living Kidney Donors for Genetic Diseases Using a Comprehensive Genetic Testing Strategy

C. P. Thomas, M. A. Mansilla, R. Sompallae, S. O. Mason, C. J. Nishimura, M. J. Kimble, C. A. Campbell, A. E. Kwitek, B. W. Darbro, Z. A. Stewart, R. J. H. Smith

Am J Transplant. 2017 Feb; 17(2): 401–410. Published online 2016 Aug 24. doi: 10.1111/ajt.13970

PMCID:: PMC5297870

Abstract Article PDF–172K

Select item 49389716.

Novel compound heterozygous mutations in CNGA1in a Chinese family affected with autosomal recessive retinitis pigmentosa by targeted sequencing

Min Wang, Dekang Gan, Xin Huang, Gezhi Xu

BMC Ophthalmol. 2016; 16: 101. Published online 2016 Jul 8. doi: 10.1186/s12886-016-0281-6

PMCID:: PMC4938971

Abstract Article PDF–837K

Select item 46942187.

A six-microRNA set as prognostic indicators for bile duct cancer

Ming Wang, Tian-Fu Wen, Lin-Hai He, Chuan Li, Wen-Jiang Zhu, Narasimha Murthy Trishul

Int J Clin Exp Med. 2015; 8(10): 17261–17270. Published online 2015 Oct 15.

PMCID:: PMC4694218

Abstract Article PDF–1.7M

Select item 46706128.

Systemic Inflammation as a Predictor of Clinical Outcomes Following Lower Extremity Angioplasty/Stenting

Kenneth DeSart, Kerri O’Malley, Bradley Schmit, Maria-Cecilia Lopez, Lyle Moldawer, Henry Baker, Scott Berceli, Peter Nelson

J Vasc Surg. Author manuscript; available in PMC 2017 Sep 1.

Published in final edited form as: J Vasc Surg. 2016 Sep; 64(3): 766–778.e5. Published online 2015 Jun 6. doi: 10.1016/j.jvs.2015.04.399

PMCID:: PMC4670612

Abstract Article PDF–2.8M

Select item 39130439.

Mutation Analysis of 18 Nephronophthisis-associated Ciliopathy Disease Genes using a DNA Pooling and Next-Generation Sequencing Strategy

Edgar A. Otto, Gokul Ramaswami, Sabine Janssen, Moumita Chaki, Susan J. Allen, Weibin Zhou, Rannar Airik, Toby W. Hurd, Amiya K. Ghosh, Matthias T. Wolf, Bernd Hoppe, Thomas J. Neuhaus, Detlef Bockenhauer, David V. Milford, Neveen A. Soliman, the GPN Study Group, Corinne Antignac, Sophie Saunier, Colin A. Johnson, Friedhelm Hildebrandt

J Med Genet. Author manuscript; available in PMC 2014 Feb 4.

Published in final edited form as: J Med Genet. 2011 Feb; 48(2): 105–116. Published online 2010 Nov 10. doi: 10.1136/jmg.2010.082552

Correction in:: J Med Genet. 2015 Dec; 52(12): 866.

PMCID:: PMC3913043

Abstract Article PDF–3.0M

Select item 377834310.

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

Lorena Travaglini, Francesco Brancati, Jennifer Silhavy, Miriam Iannicelli, Elizabeth Nickerson, Nadia Elkhartoufi, Eric Scott, Emily Spencer, Stacey Gabriel, Sophie Thomas, Bruria Ben-Zeev, Enrico Bertini, Eugen Boltshauser, Malika Chaouch, Maria Roberta Cilio, Mirjam M de Jong, Hulya Kayserili, Gonul Ogur, Andrea Poretti, Sabrina Signorini, Graziella Uziel, Maha S Zaki, the International JSRD Study Group, Colin Johnson, Tania Attié-Bitach, Joseph G Gleeson, Enza Maria Valente

Eur J Hum Genet. 2013 Oct; 21(10): 1074–1078. Published online 2013 Feb 6. doi: 10.1038/ejhg.2012.305

PMCID:: PMC3778343

Abstract Article PDF–471K

Select item 340909611.

Regulation of voltage-gated potassium channels by PI(4,5)P₂

Martin Kruse, Gerald R.V. Hammond, Bertil Hille

J Gen Physiol. 2012 Aug; 140(2): 189–205. doi: 10.1085/jgp.201210806

PMCID:: PMC3409096

Abstract Article PDF–2.3M

Select item 328399412.

Arf6 promotes autophagosome formation via effects on phosphatidylinositol 4,5-bisphosphate and phospholipase D

Kevin Moreau, Brinda Ravikumar, Claudia Puri, David C. Rubinsztein

J Cell Biol. 2012 Feb 20; 196(4): 483–496. doi: 10.1083/jcb.201110114

PMCID:: PMC3283994

Abstract Article PDF–3.9M

Select item 314593113.

Probing the regulation of TASK potassium channels by PI(4,5)P₂ with switchable phosphoinositide phosphatases

Moritz Lindner, Michael G Leitner, Christian R Halaszovich, Gerald R V Hammond, Dominik Oliver

J Physiol. 2011 Jul 1; 589(Pt 13): 3149–3162. Published online 2011 May 3. doi: 10.1113/jphysiol.2011.208983

PMCID:: PMC3145931

Abstract Article PDF–638K

Select item 274668214.

Mutations in the inositol polyphosphate-5-phosphatase E gene link phosphatidyl inositol signaling to the ciliopathies

Stephanie L. Bielas, Jennifer L. Silhavy, Francesco Brancati, Marina V. Kisseleva, Lihadh Al-Gazali, Laszlo Sztriha, Riad A. Bayoumi, Maha S. Zaki, Alice Abdel-Aleem, Ozgur Rosti, Hulya Kayserili, Dominika Swistun, Lesley C. Scott, Enrico Bertini, Eugen Boltshauser, Elisa Fazzi, Lorena Travaglini, Seth J. Field, Stephanie Gayral, Monique Jacoby, Stephane Schurmans, Bruno Dallapiccola, Philip W. Majerus, Enza Maria Valente, Joseph G. Gleeson

Nat Genet. Author manuscript; available in PMC 2010 Mar 1.

Published in final edited form as: Nat Genet. 2009 Sep; 41(9): 1032–1036. Published online 2009 Aug 9. doi: 10.1038/ng.423

PMCID:: PMC2746682

Abstract Article PDF–922K

Select item 255595815.

Phosphatidylinositol (4,5)-bisphosphate Modulates Nox5 Localization via an N-Terminal Polybasic Region

Tsukasa Kawahara, J. David Lambeth

Mol Biol Cell. 2008 Oct; 19(10): 4020–4031. doi: 10.1091/mbc.E07-12-1223

PMCID:: PMC2555958

Abstract Article PDF–1.5M

Select item 206451516.

Rapidly inducible changes in phosphatidylinositol 4,5-bisphosphate levels influence multiple regulatory functions of the lipid in intact living cells

Peter Varnai, Baskaran Thyagarajan, Tibor Rohacs, Tamas Balla

J Cell Biol. 2006 Nov 6; 175(3): 377–382. doi: 10.1083/jcb.200607116

PMCID:: PMC2064515

Abstract Article PDF–2.8M

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