| CYP4V2 rs56413992 C > T was associated with the risk of coronary heart disease in the Chinese Han population: a case-control study. | CYP4V2 rs56413992 C > T was associated with the risk of coronary heart disease in the Chinese Han population: a case-control study.
Huang K, Ma T, Li Q, Zhong Z, Zhou Y, Zhang W, Qin T, Tang S, Zhong J, Lu S., Free PMC Article | 01/12/2024 |
| An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic Prevalence Analysis of CYP4V2 as the Cause of Bietti Crystalline Dystrophy. | An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic Prevalence Analysis of CYP4V2 as the Cause of Bietti Crystalline Dystrophy.
Hanany M, Yang RR, Lam CM, Beryozkin A, Sundaresan Y, Sharon D., Free PMC Article | 02/22/2023 |
| 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. | 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.
Triamchaisri N, Toochinda P, Lawtrakul L., Free PMC Article | 01/28/2023 |
| CYP4 subfamily V member 2 (CYP4V2) polymorphisms were associated with ischemic stroke in Chinese Han population. | CYP4 subfamily V member 2 (CYP4V2) polymorphisms were associated with ischemic stroke in Chinese Han population.
Long F, Wang D, Su Q, Zhang Y, Li J, Xia S, Wang H, Wu Y, Qu Q., Free PMC Article | 12/10/2022 |
| PREDICTED PROTEIN STRUCTURE VARIATIONS INDICATE THE CLINICAL PRESENTATION OF CYP4V2-RELATED BIETTI CRYSTALLINE DYSTROPHY. | PREDICTED PROTEIN STRUCTURE VARIATIONS INDICATE THE CLINICAL PRESENTATION OF CYP4V2-RELATED BIETTI CRYSTALLINE DYSTROPHY.
Chan LW, Sung YC, Wu DC, Chen CY, Yang CH, Yang CM, Chen PL, Chen TC. | 04/23/2022 |
| Genotype and Long-term Clinical Course of Bietti Crystalline Dystrophy in Korean and Japanese Patients. | Genotype and Long-term Clinical Course of Bietti Crystalline Dystrophy in Korean and Japanese Patients.
Murakami Y, Koyanagi Y, Fukushima M, Yoshimura M, Fujiwara K, Akiyama M, Momozawa Y, Ueno S, Terasaki H, Oishi A, Miyata M, Ikeda H, Tsujikawa A, Mizobuchi K, Hayashi T, Fujinami K, Tsunoda K, Park JY, Han J, Kim M, Lee CS, Kim SJ, Park TK, Joo K, Woo SJ, Ikeda Y, Sonoda KH. | 03/12/2022 |
| Crystals deposits in the anterior and posterior lens cortex in Bietti corneo-retinal dystrophy. | Crystals deposits in the anterior and posterior lens cortex in Bietti corneo-retinal dystrophy.
Louati Y, Vaclavik V, Moulin A, Schorderet D, Munier FL, Viet Tran H. | 02/5/2022 |
| CYP4V2 fatty acid omega hydroxylase, a druggable target for the treatment of metabolic associated fatty liver disease (MAFLD). | CYP4V2 fatty acid omega hydroxylase, a druggable target for the treatment of metabolic associated fatty liver disease (MAFLD).
Osborne N, Leahy C, Lee YK, Rote P, Song BJ, Hardwick JP. | 01/22/2022 |
| New compound heterozygous CYP4V2 mutations in bietti crystalline corneoretinal dystrophy. | New compound heterozygous CYP4V2 mutations in bietti crystalline corneoretinal dystrophy.
Wang T, Chen Q, Yao X, Kuang L, Gan R, Wang J, Yan X. | 06/12/2021 |
| Identification and functional characterization of CYP4V2 genetic variants exhibiting decreased activity of lauric acid metabolism. | Identification and functional characterization of CYP4V2 genetic variants exhibiting decreased activity of lauric acid metabolism.
Jarrar YB, Shin JG, Lee SJ. | 03/27/2021 |
| [Analysis of phenotype and CYP4V2 gene variants in two pedigrees affected with Bietti crystalline corneoretinal dystrophy]. | [Analysis of phenotype and CYP4V2 gene variants in two pedigrees affected with Bietti crystalline corneoretinal dystrophy].
Xie Y, Bai Z, Sun Z, Gu L, Zhang X, Kong X. | 01/9/2021 |
| Homozygous mutation in CYP4V2 gene is associated with Bietti's retinal dystrophy. | Presence of corneal crystals confirms an unusual presentation of Bietti's retinal dystrophy.
Song WK, Clouston P, MacLaren RE. | 06/13/2020 |
| Mutation in the CYP4V2 gene is associated with Bietti's crystalline dystrophy. | Bietti's crystalline dystrophy in Nepalese patients: when genetic analysis supports clinical diagnosis.
Suwal B, Bajimaya S, Bernstein PS. | 05/16/2020 |
| mutations in CYP4V2 may be common in the Chinese population. | Novel mutations in CYP4V2 in Bietti corneoretinal crystalline dystrophy: Next-generation sequencing technology and genotype-phenotype correlations.
Meng XH, He Y, Zhao TT, Li SY, Liu Y, Yin ZQ., Free PMC Article | 04/25/2020 |
| In conclusion, the results of this pooled systematic study indicated that individuals with the A allele had a higher risk of developing venous thromboembolism than those with the C allele of the rs13146272 variant, but the risk was inconsistent among different ethnicities. | Association of the CYP4V2 polymorphism rs13146272 with venous thromboembolism in a Chinese population.
Yue Y, Sun Q, Man C, Fu Y., Free PMC Article | 06/1/2019 |
| The patients with mutations in CYP4V2 showed wide intra- and interfamilial variability in clinical severity. The findings expand the mutational spectrum of CYP4V2 and further confirm the c.802-8_810del17insGC mutation was due to a founder effect in a large cohort of Chinese patients. | Comprehensive screening of CYP4V2 in a cohort of Chinese patients with Bietti crystalline dystrophy.
Zhang X, Xu K, Dong B, Peng X, Li Q, Jiang F, Xie Y, Tian L, Li Y., Free PMC Article | 01/12/2019 |
| To the best of our knowledge, this study represents the largest effort to determine the genetic alterations underlying Bietti crystalline dystrophy (BCD) in Spain to date. Our results show that analysis of CYP4V2 variants is required for a reliable diagnosis of BCD. | Identification of novel CYP4V2 genotypes associated with Bietti crystalline dystrophy and atypical anterior segment phenotypes in Spanish patients.
García-García GP, Martínez-Rubio M, Moya-Moya MA, Pérez-Santonja JJ, Escribano J. | 12/22/2018 |
| This is the first report of a homozygous R400C mutation in CYP4V2 with protein modelling showing high likelihood of enzyme dysfunction. The comprehensive long-term clinical follow-up provides insight into disease progression and highlights possible anti-inflammatory modulation of disease severity. | Longitudinal characterisation of function and structure of Bietti crystalline dystrophy: report on a novel homozygous mutation in CYP4V2.
Lockhart CM, Smith TB, Yang P, Naidu M, Rettie AE, Nath A, Weleber R, Kelly EJ., Free PMC Article | 02/17/2018 |
| Bietti crystalline dystrophy patients with CYP4V2 mutations showed more severe macular choroid atrophy as compared to EYS-related RP patients. These different damage patterns suggest differences in choroidal expression between CYP4V2 and EYS. | CHOROIDAL AND RETINAL ATROPHY OF BIETTI CRYSTALLINE DYSTROPHY PATIENTS WITH CYP4V2 MUTATIONS COMPARED TO RETINITIS PIGMENTOSA PATIENTS WITH EYS MUTATIONS.
Miyata M, Hata M, Ooto S, Ogino K, Gotoh N, Morooka S, Hasegawa T, Hirashima T, Sugahara M, Kuroda Y, Yamashiro K, Yoshimura N. | 01/13/2018 |
| In summary, we confirmed that the choroideremia-like fundus appearance of our patient was caused by the novel homozygous CYP4V2 variant. | A novel homozygous CYP4V2 variant (p.S121Y) associated with a choroideremia-like phenotype.
Katagiri S, Hayashi T, Gekka T, Tsuneoka H. | 11/18/2017 |
| Photoreceptor outer segment and apical retinal pigment epithelium abnormalities underlie the relatively extensive retinal dysfunction observed in relatively early-stage Bietti crystalline dystrophy. Intravitreal Bevacizumab was effective in treating CNV in this setting. | Detailed functional and structural phenotype of Bietti crystalline dystrophy associated with mutations in CYP4V2 complicated by choroidal neovascularization.
Fuerst NM, Serrano L, Han G, Morgan JI, Maguire AM, Leroy BP, Kim BJ, Aleman TS., Free PMC Article | 11/11/2017 |
| Expression levels of both CYP4V2 mRNA and protein were significantly reduced after treatment with peroxisome proliferator-activated receptor gamma (PPARgamma) antagonist GW9662 | Expression of CYP4V2 in human THP1 macrophages and its transcriptional regulation by peroxisome proliferator-activated receptor gamma.
Yi M, Shin JG, Lee SJ. | 08/19/2017 |
| Nineteen missense, 4 nonsense, 2 deletion, 2 splice site, and 1 insertion-deletion mutations were identified in in patients with Bietti crystalline corneoretinal dystrophy. The age of the c.802-8_810del17insGC mutation was estimated to be 1040-8200 generations in the Chinese and 300-1100 generations in the Japanese populations. | Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy.
Jiao X, Li A, Jin ZB, Wang X, Iannaccone A, Traboulsi EI, Gorin MB, Simonelli F, Hejtmancik JF., Free PMC Article | 08/12/2017 |
| We found that the subfoveal choroidal thickness and the outer choroidal vascular area were smaller in Bietti Crystalline Dystrophy patients with CYP4V2 mutations than in age-, sex-, AL-, and logMAR VA-matched RP patients with EYS mutations or age-, sex-, and AL-matched healthy controls. | Choroidal Vasculature in Bietti Crystalline Dystrophy With CYP4V2 Mutations and in Retinitis Pigmentosa With EYS Mutations.
Hirashima T, Miyata M, Ishihara K, Hasegawa T, Sugahara M, Ogino K, Yoshikawa M, Hata M, Kuroda Y, Muraoka Y, Ooto S, Yoshimura N. | 08/5/2017 |
| Our findings broaden the spectrum of CYP4V2 mutations that cause BCD and the phenotypic spectrum of the disease in Chinese families. These results will be useful for the genetic diagnosis of BCD, genetic consultation, and gene therapy in the future. | Identification of CYP4V2 mutation in 36 Chinese families with Bietti crystalline corneoretinal dystrophy.
Yin X, Yang L, Chen N, Cui H, Zhao L, Feng L, Li A, Zhang H, Ma Z, Li G. | 06/24/2017 |