PMC Links for Nucleotide (Select 1519241565) - PMC

Select item 63945891.

Association of the CYP4V2 polymorphism rs13146272 with venous thromboembolism in a Chinese population

Yongjian Yue, Qing Sun, Chiwai Man, Yingyun Fu

Clin Exp Med. 2019; 19(1): 159–166. Published online 2018 Oct 1. doi: 10.1007/s10238-018-0529-y

PMCID:: PMC6394589

Article PDF–1.2M

Select item 62042572.

Comprehensive screening of CYP4V2 in a cohort of Chinese patients with Bietti crystalline dystrophy

Xiaohui Zhang, Ke Xu, Bing Dong, Xiaoyan Peng, Qian Li, Feng Jiang, Yue Xie, Lu Tian, Yang Li

Mol Vis. 2018; 24: 700–711. Published online 2018 Oct 26.

PMCID:: PMC6204257

Article PDF–3.0M

Select item 12885723.

Genetic Linkage of Bietti Crystallin Corneoretinal Dystrophy to Chromosome 4q35

Xiaodong Jiao, Francis L. Munier, Fumino Iwata, Mutsuko Hayakawa, Atsushi Kanai, June Lee, Daniel F. Schorderet, Muh-Shy Chen, Muriel Kaiser-Kupfer, J. Fielding Hejtmancik

Am J Hum Genet. 2000 Nov; 67(5): 1309–1313. Published online 2000 Sep 21. doi: 10.1016/s0002-9297(07)62960-7

PMCID:: PMC1288572

Article PDF–244K

Select item 11819774.

Bietti Crystalline Corneoretinal Dystrophy Is Caused by Mutations in the Novel Gene CYP4V2

Anren Li, Xiaodong Jiao, Francis L. Munier, Daniel F. Schorderet, Wenliang Yao, Fumino Iwata, Mutsuko Hayakawa, Atsushi Kanai, Muh Shy Chen, Richard Alan Lewis, John Heckenlively, Richard G. Weleber, Elias I. Traboulsi, Qingjiong Zhang, Xueshan Xiao, Muriel Kaiser-Kupfer, Yuri V. Sergeev, J. Fielding Hejtmancik

Am J Hum Genet. 2004 May; 74(5): 817–826. Published online 2004 Mar 23. doi: 10.1086/383228

PMCID:: PMC1181977

Article PDF–415K

Select item 4036975.

The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment

Hilary F. Clark, Austin L. Gurney, Evangeline Abaya, Kevin Baker, Daryl Baldwin, Jennifer Brush, Jian Chen, Bernard Chow, Clarissa Chui, Craig Crowley, Bridget Currell, Bethanne Deuel, Patrick Dowd, Dan Eaton, Jessica Foster, Christopher Grimaldi, Qimin Gu, Philip E. Hass, Sherry Heldens, Arthur Huang, Hok Seon Kim, Laura Klimowski, Yisheng Jin, Stephanie Johnson, James Lee, Lhney Lewis, Dongzhou Liao, Melanie Mark, Edward Robbie, Celina Sanchez, Jill Schoenfeld, Somasekar Seshagiri, Laura Simmons, Jennifer Singh, Victoria Smith, Jeremy Stinson, Alicia Vagts, Richard Vandlen, Colin Watanabe, David Wieand, Kathryn Woods, Ming-Hong Xie, Daniel Yansura, Sothy Yi, Guoying Yu, Jean Yuan, Min Zhang, Zemin Zhang, Audrey Goddard, William I. Wood, Paul Godowski

Genome Res. 2003 Oct; 13(10): 2265–2270. doi: 10.1101/gr.1293003

Correction in:: Genome Res. 2003 Dec; 13(12): 2759.

PMCID:: PMC403697

Article PDF–120K

Select item 68289926.

Novel mutations in CYP4V2 in Bietti corneoretinal crystalline dystrophy: Next-generation sequencing technology and genotype-phenotype correlations

Xiao Hong Meng, Yan He, Tong Tao Zhao, Shi Ying Li, Yong Liu, Zheng Qin Yin

Mol Vis. 2019; 25: 654–662. Published online 2019 Oct 31.

PMCID:: PMC6828992

Article PDF–846K

Select item 54289007.

Metallothionein 1G promotes the differentiation of HT-29 human colorectal cancer cells

Juan Martín Arriaga, Alicia Inés Bravo, José Mordoh, Michele Bianchini

Oncol Rep. 2017 May; 37(5): 2633–2651. Published online 2017 Apr 3. doi: 10.3892/or.2017.5547

PMCID:: PMC5428900

Article PDF–1.1M

Select item 49487538.

Identification and Validation of Genes with Expression Patterns Inverse to Multiple Metastasis Suppressor Genes in Breast Cancer Cell Lines

Natascia Marino, Joshua W. Collins, Changyu Shen, Natasha J. Caplen, Anand S. Merchant, Yesim Gökmen-Polar, Chirayu P. Goswami, Takashi Hoshino, Yongzhen Qian, George W. Sledge, Jr, Patricia S. Steeg

Clin Exp Metastasis. Author manuscript; available in PMC 2016 Jul 18.

Published in final edited form as: Clin Exp Metastasis. 2014 Oct; 31(7): 771–786. Published online 2014 Aug 3. doi: 10.1007/s10585-014-9667-0

PMCID:: PMC4948753

Article PDF–1.2M

Select item 46786619.

Whole-transcriptome gene expression profiling in an epidermolysis bullosa simplex Dowling-Meara model keratinocyte cell line uncovered novel, potential therapeutic targets and affected pathways

Julia Herzog, Raphaela Rid, Martin Wagner, Harald Hundsberger, Andreas Eger, Johann Bauer, Kamil Önder

BMC Res Notes. 2015; 8: 785. Published online 2015 Dec 15. doi: 10.1186/s13104-015-1783-7

PMCID:: PMC4678661

Article PDF–1.4M

Select item 445864710.

Novel CYP4V2 mutations associated with Bietti crystalline corneoretinal dystrophy in Chinese patients

Rong Tian, Shu-Ran Wang, Jing Wang, You-Xin Chen

Int J Ophthalmol. 2015; 8(3): 465–469. Published online 2015 Jun 18. doi: 10.3980/j.issn.2222-3959.2015.03.06

PMCID:: PMC4458647

Article PDF–720K

Select item 429971211.

Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy

Galuh D N Astuti, Vincent Sun, Miriam Bauwens, Ditta Zobor, Bart P Leroy, Amer Omar, Bernhard Jurklies, Irma Lopez, Huanan Ren, Volkan Yazar, Christian Hamel, Ulrich Kellner, Bernd Wissinger, Susanne Kohl, Elfride De Baere, Rob W J Collin, Robert K Koenekoop

Mol Genet Genomic Med. 2015 Jan; 3(1): 14–29. Published online 2014 Sep 15. doi: 10.1002/mgg3.109

PMCID:: PMC4299712

Article PDF–639K

Select item 394544112.

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

Feng Wang, Hui Wang, Han-Fang Tuan, Duy H. Nguyen, Vincent Sun, Vafa Keser, Sara J. Bowne, Lori S. Sullivan, Hongrong Luo, Ling Zhao, Xia Wang, Jacques E. Zaneveld, Jason S. Salvo, Sorath Siddiqui, Louise Mao, Dianna K. Wheaton, David G. Birch, Kari E. Branham, John R. Heckenlively, Cindy Wen, Ken Flagg, Henry Ferreyra, Jacqueline Pei, Ayesha Khan, Huanan Ren, Keqing Wang, Irma Lopez, Raheel Qamar, Juan C. Zenteno, Raul Ayala-Ramirez, Beatriz-Buentello-Volante, Qing Fu, David A. Simpson, Yumei Li, Ruifang Sui, Giuliana Silvestri, Stephen P. Daiger, Robert K. Koenekoop, Kang Zhang, Rui Chen

Hum Genet. Author manuscript; available in PMC 2015 Mar 1.

Published in final edited form as: Hum Genet. 2014 Mar; 133(3): 331–345. Published online 2013 Oct 24. doi: 10.1007/s00439-013-1381-5

PMCID:: PMC3945441

Article PDF–1.6M

Select item 335141613.

Clinical and molecular findings in three Lebanese families with Bietti crystalline dystrophy: Report on a novel mutation

Nour Maya N. Haddad, Naji Waked, Riad Bejjani, Ziad Khoueir, Eliane Chouery, Sandra Corbani, André Mégarbané

Mol Vis. 2012; 18: 1182–1188. Published online 2012 May 5.

PMCID:: PMC3351416

Article PDF–1011K

Select item 301431914.

Gene expression profiling of TGFβ2- and/or BMP7-treated trabecular meshwork cells: Identification of Smad7 as a critical inhibitor of TGF-β2 signaling

Rudolf Fuchshofer, Dietrich A. Stephan, Paul Russell, Ernst R. Tamm

Exp Eye Res. Author manuscript; available in PMC 2011 Jan 3.

Published in final edited form as: Exp Eye Res. 2009 Jun; 88(6): 1020–1032. Published online 2009 Jan 18. doi: 10.1016/j.exer.2009.01.002

PMCID:: PMC3014319

Article PDF–1.5M

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