PMC Links for Protein (Select 199559438) - PMC

Select item 58926051.

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

Abstract Article PDF–742K

Select item 58061442.

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

Abstract Article PDF–329K

Select item 57182733.

Prospective Evaluation of Kidney Disease in Joubert Syndrome

Leah R. Fleming, Daniel A. Doherty, Melissa A. Parisi, Ian A. Glass, Joy Bryant, Roxanne Fischer, Baris Turkbey, Peter Choyke, Kailash Daryanani, Meghana Vemulapalli, James C. Mullikin, May Christine Malicdan, Thierry Vilboux, John A. Sayer, William A. Gahl, Meral Gunay-Aygun

Clin J Am Soc Nephrol. 2017 Dec 7; 12(12): 1962–1973. Published online 2017 Nov 16. doi: 10.2215/CJN.05660517

PMCID:: PMC5718273

Abstract Article

Select item 17357234.

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

Summary PDF–436K

Select item 4413755.

Genome annotation of a 1.5 Mb region of human chromosome 6q23 encompassing a quantitative trait locus for fetal hemoglobin expression in adults

James Close, Laurence Game, Barnaby Clark, Jean Bergounioux, Ageliki Gerovassili, Swee Lay Thein

BMC Genomics. 2004; 5: 33. Published online 2004 May 31. doi: 10.1186/1471-2164-5-33

PMCID:: PMC441375

Abstract Article PDF–1.2M

Select item 1364426.

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

Abstract Article PDF–1.3M

Select item 56386887.

Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants amongst exon-captured variants of uncertain significance

Zachry T. Soens, Justin Branch, Shijing Wu, Zhisheng Yuan, Yumei Li, Hui Li, Keqing Wang, Mingchu Xu, Lavan Rajan, Fabiana L. Motta, Renata T. Simões, Irma Lopez-Solache, Radwan Ajlan, David G. Birch, Peiquan Zhao, Fernanda B. Porto, Juliana Sallum, Robert K. Koenekoop, Ruifang Sui, Rui Chen

Hum Mutat. Author manuscript; available in PMC 2018 Nov 1.

Published in final edited form as: Hum Mutat. 2017 Nov; 38(11): 1521–1533. Published online 2017 Aug 18. doi: 10.1002/humu.23294

PMCID:: PMC5638688

Abstract Article PDF–640K

Select item 34543868.

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

Abstract Article PDF–1.2M

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