-
This study found that L107V and R390H in CYP1B1 are two common mutations relating to primary congenital glaucoma in Chinese populations. Both mutations may destroy the residue contacts, destabilize the local and/or whole protein, reduce the exposure of active sites, and finally affect the molecular interactions between CYP1B1 and the substrate.
-
While MYOC damaging alterations were highly prevalent (34%), CYP1B1 damaging variants were less frequent (2%) in this cohort of Brazilian juvenile open angle glaucoma patients.
-
Heterozygous pathogenic variants in the PITX2 and FOXC1 genes accounted for 66% (6/9) of the ARS/ASD cases. The absence of PAX6 or CYP1B1 abnormalities could reflect our small sample size, although their analysis could be justified in ARS/ASD patients that present with congenital glaucoma or aniridia.
-
CYP1B1 142C-4326G haplotype and high CYP1B1 mRNA expression was associated with higher risk for chemoresistance in triple negative breast cancer.
-
The aim of this study was to investigate serum concentrations of AhR, cytochromes P450 (CYP) 1A1 and 1B1 in patients with exacerbated psoriasis vulgaris.
-
Our findings suggest a relationship between the CYP1B1-rs1056836 genetic polymorphism and clinical features of squamous cell carcinoma of the esophagus , supporting further studies in larger populations in different ethnic groups, taking into account potentially important environmental factors such as diet.
-
CYP1B1 single nucleotide polymorphisms association with lung cancer susceptibility in Polish smokers.
-
Oxidation of 1-chloropyrene by human CYP1 family and CYP2A subfamily cytochrome P450 enzymes: catalytic roles of two CYP1B1 and five CYP2A13 allelic variants
-
An increased breast cancer risk, independent of other breast cancer risk factors, was observed among carriers of CYP1B1 G119T genotype.
-
CYP1B1 mRNA expression in the preputial tissues from patients with hypospadias and phimosis
-
the CYP1B1 status in tissues from 76 patients diagnosed with non-small cell lung cancer, was investigated.
-
High CYP1B1 expression is associated with prostate cancer.
-
Data provide evidence that CYP1B1 plays a critical role in polycyclic aromatic hydrocarbon-mediated DNA damage.
-
genetic association studies in population of postmenopausal Mexican-Mestizo women: Data suggest SNPs in CYP1A1 (rs1799814, rs1048943; but not rs1056836 in CYP1B1) are associated with postmenopausal osteoporosis in the population studied; SNPs in CYP1A1 are associated with low bone mineral density in lumbar spine and femur neck. (CYP1A1 = aryl hydrocarbon hydroxylase CYP1A1; CYP1B1 = aryl hydrocarbon hydroxylase CYP1B1)
-
Juvenile onset open angle glaucoma and adult onset POAG form a spectrum of phenotypes. we analyzed the common variants in MYOC and CYP1B1 that were shared among all the three phenotypes .An interesting finding was that, while, many CYP1B1 variants were found in all three types of glaucoma, there was no reported MYOC variant, that was common to all the three primary glaucomas.
-
The frequency of p.E229K and p.R368H mutations of the CYP1B1 gene is low even among sporadic JOAG patients.
-
This pilot study revealed a significant association of the CYP1B1 Asn453Ser genotypes with the plasma levels of HDL-cholesterol and of apolipoprotein A1 in postmenopausal women and less unequivocal findings in premenopausal women.
-
We present an uncommon mutation and clinical description of CYP1B1 gene analysis demonstrated homozygosity for a 1-bp deletion in exon 2 (c.830delT).
-
In summary, these data expand the mutational and phenotypic spectra of CYP1B1 to include two novel alleles and additional developmental ocular phenotypes. The contribution of CYP1B1 to primary open angle glaucoma (POAG) is less clear, but loss-of-function variants in CYP1B1, especially c.1064_1076del, p.(Arg355Hisfs*69), may be associated with an increased risk for POAG.
-
In summary, a KLE cell-based model has been characterized to be suitable for identifying CYP1B1-targeted anticancer prodrugs and should be further developed and employed for screening chemical libraries.
