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Select item 107098781.

CYP4V2 rs56413992 C > T was associated with the risk of coronary heart disease in the Chinese Han population: a case–control study

Kang Huang, Tianyi Ma, Qiang Li, Zanrui Zhong, Yilei Zhou, Wei Zhang, Ting Qin, Shilin Tang, Jianghua Zhong, Shijuan Lu

BMC Med Genomics. 2023; 16: 322. Published online 2023 Dec 8. doi: 10.1186/s12920-023-01737-y

PMCID:: PMC10709878

Abstract Article PDF–1.7M

Select item 99407742.

An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic Prevalence Analysis of CYP4V2 as the Cause of Bietti Crystalline Dystrophy

Mor Hanany, Richard Rui Yang, Chun Man Lam, Avigail Beryozkin, Yogapriya Sundaresan, Dror Sharon

Transl Vis Sci Technol. 2023 Feb; 12(2): 27. Published online 2023 Feb 16. doi: 10.1167/tvst.12.2.27

PMCID:: PMC9940774

Abstract Article PDF–4.1M

Select item 98653913.

Structural Investigation of Beta-Cyclodextrin Complexes with Cannabidiol and Delta-9-Tetrahydrocannabinol in 1:1 and 2:1 Host-Guest Stoichiometry: Molecular Docking and Density Functional Calculations

Nat Triamchaisri, Pisanu Toochinda, Luckhana Lawtrakul

Int J Mol Sci. 2023 Jan; 24(2): 1525. Published online 2023 Jan 12. doi: 10.3390/ijms24021525

PMCID:: PMC9865391

Abstract Article PDF–3.1M

Select item 97038294.

CYP4 subfamily V member 2 (CYP4V2) polymorphisms were associated with ischemic stroke in Chinese Han population

Faqing Long, Desheng Wang, Qingjie Su, Yuhui Zhang, Jianhong Li, Shiliang Xia, Hailun Wang, Yongping Wu, Qiumin Qu

BMC Med Genomics. 2022; 15: 246. Published online 2022 Nov 28. doi: 10.1186/s12920-022-01393-8

PMCID:: PMC9703829

Abstract Article PDF–894K

Select item 68289925.

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

Abstract Article PDF–846K

Select item 63945896.

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

Abstract Article PDF–1.2M

Select item 62081307.

Longitudinal characterisation of function and structure of Bietti crystalline dystrophy: report on a novel homozygous mutation in CYP4V2

Catherine M Lockhart, Travis B Smith, Paul Yang, Malini Naidu, Allan E Rettie, Abhinav Nath, Richard Weleber, Edward J Kelly

Br J Ophthalmol. Author manuscript; available in PMC 2019 Feb 1.

Published in final edited form as: Br J Ophthalmol. 2018 Feb; 102(2): 187–194. Published online 2017 Jul 11. doi: 10.1136/bjophthalmol-2016-309696

PMCID:: PMC6208130

Abstract Article PDF–1.8M

Select item 62042578.

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

Abstract Article PDF–3.0M

Select item 53864099.

Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy

Xiaodong Jiao, Anren Li, Zi-Bing Jin, Xinjing Wang, Alessandro Iannaccone, Elias I Traboulsi, Michael B Gorin, Francesca Simonelli, J Fielding Hejtmancik

Eur J Hum Genet. 2017 Apr; 25(4): 461–471. Published online 2017 Jan 4. doi: 10.1038/ejhg.2016.184

PMCID:: PMC5386409

Abstract Article PDF–1.3M

Select item 514901010.

Detailed Functional and Structural Phenotype of Bietti Crystalline Dystrophy Associated with Mutations in CYP4V2 Complicated by Choroidal Neovascularization

Nicole M. Fuerst, Leona Serrano, Grace Han, Jessica I. W. Morgan, Albert M. Maguire, Bart P. Leroy, Benjamin J. Kim, Tomas S. Aleman

Ophthalmic Genet. Author manuscript; available in PMC 2017 Dec 1.

Published in final edited form as: Ophthalmic Genet. 2016 Dec; 37(4): 445–452. Published online 2016 Mar 30. doi: 10.3109/13816810.2015.1126616

PMCID:: PMC5149010

Abstract Article PDF–1.9M

Select item 474265211.

Bietti Crystalline Retinopathy Confirmed by Mutation of CYP4V2 Gene in a Korean Patient

Young Joo Park, Duck Jin Hwang, Moon-Woo Seong, Sung Sup Park, Se Joon Woo

Korean J Ophthalmol. 2016 Feb; 30(1): 81–83. Published online 2016 Jan 21. doi: 10.3341/kjo.2016.30.1.81

PMCID:: PMC4742652

Article PDF–7.7M

Select item 428771812.

Identification of novel CYP4V2 gene mutations in 92 Chinese families with Bietti’s crystalline corneoretinal dystrophy

Xiao Hong Meng, Hong Guo, Hai Wei Xu, Qi You Li, Xin Jin, Yun Bai, Shi Ying Li, Zheng Qin Yin

Mol Vis. 2014; 20: 1806–1814. Published online 2014 Dec 31.

PMCID:: PMC4287718

Abstract Article PDF–1.3M

Select item 398925213.

Molecular Analysis and Phenotypic Study in 14 Chinese Families with Bietti Crystalline Dystrophy

Houfa Yin, Chongfei Jin, Xiaoyun Fang, Qi Miao, Yingying Zhao, Zhiqing Chen, Zhaoan Su, Panpan Ye, Yao Wang, Jinfu Yin

PLoS One. 2014; 9(4): e94960. Published online 2014 Apr 16. doi: 10.1371/journal.pone.0094960

PMCID:: PMC3989252

Abstract Article PDF–2.1M

Select item 358208914.

Clinical and genetic features in Italian Bietti crystalline dystrophy patients

Settimio Rossi, Francesco Testa, Anren Li, Fulya Yaylacioğlu, Carlo Gesualdo, J Fielding Hejtmancik, Francesca Simonelli

Br J Ophthalmol. 2013 Feb; 97(2): 174–179. Published online 2012 Dec 6. doi: 10.1136/bjophthalmol-2012-302469

PMCID:: PMC3582089

Abstract Article PDF–417K

Select item 336506915.

Exome Sequencing Identifies Compound Heterozygous Mutations in CYP4V2 in a Pedigree with Retinitis Pigmentosa

Yun Wang, Liheng Guo, Su-Ping Cai, Meizhi Dai, Qiaona Yang, Wenhan Yu, Naihong Yan, Xiaomin Zhou, Jin Fu, Xinwu Guo, Pengfei Han, Jun Wang, Xuyang Liu

PLoS One. 2012; 7(5): e33673. Published online 2012 May 31. doi: 10.1371/journal.pone.0033673

PMCID:: PMC3365069

Abstract Article PDF–3.1M

Select item 335141616.

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

Abstract Article PDF–1011K

Select item 315569917.

An Atypical Form of Bietti Crystalline Dystrophy

Settimio Rossi, Francesco Testa, Anren Li, Valentina Di Iorio, Jun Zhang, Carlo Gesualdo, Michele Della Corte, Chi-Chao Chan, J. Fielding Hejtmancik, Francesca Simonelli

Ophthalmic Genet. Author manuscript; available in PMC 2011 Aug 13.

Published in final edited form as: Ophthalmic Genet. 2011 Jun; 32(2): 118–121. Published online 2011 Mar 8. doi: 10.3109/13816810.2011.559653

PMCID:: PMC3155699

Abstract Article PDF–836K

Select item 315413518.

Molecular screening of the CYP4V2 gene in Bietti crystalline dystrophy that is associated with choroidal neovascularization

Gandra Mamatha, Vetrivel Umashankar, Nachiappan Kasinathan, Tandava Krishnan, Ravichandran Sathyabaarathi, Thirumalai Karthiyayini, John Amali, Chetan Rao, Jagadeesan Madhavan

Mol Vis. 2011; 17: 1970–1977. Published online 2011 Jul 20.

PMCID:: PMC3154135

Abstract Article PDF–1.4M

Select item 128857219.

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

Abstract Article PDF–244K

Select item 118197720.

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