نتایج جستجو برای: cyp1b1 gene mutation
تعداد نتایج: 1285161 فیلتر نتایج به سال:
BACKGROUND Primary congenital glaucoma (PCG), occurs due to the developmental defects in the trabecular meshwork and anterior chamber angle in children. PCG exhibits genetic heterogeneity and the CYP1B1 gene has been widely implicated worldwide. Despite the diverse mutation spectra, the clinical implications of these mutations are yet unclear. The present study attempted to delineate the clinic...
The review is devoted to the genetic nature of congenital glaucoma (CG) and presents clinical forms hereditary single nucleotide polymorphisms identified by genome-wide association studies (GWAS). Glaucoma a genetically heterogeneous disease, patients with same diagnosis often have different molecular causes. role mutations in CYP1B1 gene has been proven pathogenesis hydrophthalmos; MYOC — juve...
Abstract Recent studies have uncovered the critical role of aryl hydrocarbon receptor (AHR) in various diseases, including obesity and cancer progression, independent its previously identified as a for endocrine-disrupting chemicals (EDCs). We showed that endoplasmic reticulum (ER) stress, newly recognized local factor follicular microenvironment, is activated granulosa cells from patients with...
PURPOSE Primary congenital glaucoma (PCG) is a severe form of glaucoma that presents early in life. PCG is a clinical and genetic entity that is distinct from juvenile forms of glaucoma. Inheritance is usually autosomal recessive and therefore the disease might be more common in societies where consanguinity is high. We studied the prevalence of cytochrome P450, family 1, subfamily B, polypepti...
PURPOSE Myocilin gene defects have been originally implicated in primary open angle glaucoma (POAG). Based on multiple reports for the occurrence of Gln48His mutation (c.144G>T; HGMD accession number CM023962) among Indian POAG patients, we wanted to estimate the prevalence of this mutation in primary open angle and primary congenital glaucoma (PCG) in India and assess its role in the causation...
Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis
PURPOSE This study was designed to analyze two candidate genes, myocilin (MYOC) and cytochrome P450 1B1 (CYP1B1), in a Chinese pedigree of juvenile glaucoma with goniodysgenesis. METHODS In a three-generation family of juvenile glaucoma with goniodysgenesis (13 members), six of them were patients with glaucoma and the rest were asymptomatic. All members of the family underwent complete ophtha...
PURPOSE The gene coding cytochrome P4501B1 (CYP1B1) has been shown to be a major cause of primary congenital glaucoma in the Iranian population. More recently it was shown to also be important in juvenile-onset open angle glaucoma (JOAG). We aimed to further investigate the role of CYP1B1 in a larger cohort of primary open angle glaucoma (POAG) patients which included late-onset patients. We al...
Mutations in bone morphogenetic protein receptor type 2 (BMPR2) cause familial pulmonary arterial hypertension (FPAH), but the penetrance is reduced and females are significantly overrepresented. In addition, gene expression data implicating the oestrogen-metabolising enzyme CYP1B1 suggests a detrimental role of oestrogens or oestrogen metabolites. We examined genetic and metabolic markers of a...
Purpose Mutations in the CYP1B1 gene are the most commonly identified genetic causes of primary infantile-onset glaucoma. Despite this disease association, the role of CYP1B1 in eye development and its in vivo substrate remain unknown. In the present study, we used zebrafish to elucidate the mechanism by which cyp1b1 regulates eye development. Methods Zebrafish eye and neural crest developmen...
Cytochrome P450 1B1 (CYP1B1) is a phase I enzyme involved in the metabolic activation of many polycyclic aromatic hydrocarbons. It is also involved in the hydroxylation of estradiol to 4-hydroxyestradiol, a potentially genotoxic metabolite that is suggested to play a role in carcinogenesis. CYP1B1 is expressed in many tissues including mononuclear peripheral blood cells and is regulated through...
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