نتایج جستجو برای: cyp1b1 gene mutation

تعداد نتایج: 1285161  

Journal: :Investigative ophthalmology & visual science 2009
Subhabrata Chakrabarti Kiranpreet Kaur Kollu Nageswara Rao Anil K Mandal Inderjeet Kaur Rajul S Parikh Ravi Thomas

PURPOSE Primary congenital glaucoma (PCG) is an autosomal recessive disorder that has been linked to CYP1B1 mutations. This study was conducted to explore the role of FOXC1, which is involved in anterior segment dysgenesis, in PCG. METHODS An earlier screening for CYP1B1 in a clinically well-characterized PCG cohort (n = 301) revealed cases that were either homozygous (n = 73), compound heter...

Journal: :Cancer research 2004
Yuki Tsuchiya Miki Nakajima Satoru Kyo Taro Kanaya Masaki Inoue Tsuyoshi Yokoi

Human cytochrome P450 (CYP) 1B1 is a key enzyme in the metabolism of 17beta-estradiol (E2). CYP1B1 is mainly expressed in endocrine-regulated tissues, such as mammary, uterus, and ovary. Because many CYP enzymes are likely to be induced by the substrates themselves, we examined whether the human CYP1B1 expression is regulated by E2 in the present study. Real-time reverse transcription-PCR analy...

Journal: :Drug metabolism and disposition: the biological fate of chemicals 2009
Simone Helmig Bahar Hadzaad Juliane Döhrel Joachim Schneider

Cytochrome P450 1B1 (CYP1B1), a phase I enzyme, is involved in the activation of a broad spectrum of procarcinogens. An association of the Cyp1B1 L432V polymorphism with diverse types of cancer, as well as an impact on the catalytic activity of the enzyme, has been described. To show the functional impact of the allelic variant Cyp1B1*3, we investigated the quantitative Cyp1B1 mRNA expression i...

2016
Catherine M Rondelli Michele Campaigne Larsen Alhaji N'jai Charles J Czuprynski Colin R Jefcoate

7,12-Dimethylbenz(a)anthracene (DMBA) rapidly suppresses hematopoietic progenitors, measured as colony forming units (CFU), in mouse bone marrow (BM) leading to mature cell losses as replenishment fails. These losses are mediated by Cyp1b1, independent of the AhR, despite induction of Cyp1b1. BM mesenchymal progenitor cells (MPC) may mediate these responses since basal Cyp1b1 is minimally induc...

2009
Eranga N Vithana Tin Aung

Glaucoma, an optic neuropathy characterized by progressive visual field loss, is the leading cause of irreversible blindness worldwide. The condition has a substantial heritable basis, as illustrated by the numerous loci and genes identified to date and the large proportion of patients with positive family history. When glaucoma manifests before the age of 40 years, it tends to be more aggressi...

2014
Jianhua Jin Faming Lin Shiyu Liao Qiyu Bao Liyan Ni Qing-Yi Wei

PURPOSE This study was conducted to explore the effects of genetic polymorphisms (CYP1B1*2 G355T, CYP1B1*3 C4326G, and CYP2E1*5 G-1293C) and environmental factors (smoking and drinking) on susceptibility to laryngeal cancer in a Han Chinese study group. METHODS This case-control study included 552 Han Chinese patients diagnosed with laryngeal cancer and 666 healthy control subjects of the sam...

Journal: :Hypertension 2016
Ajeeth K Pingili Shyamala Thirunavukkarasu Mehmet Kara David D Brand Akemi Katsurada Dewan S A Majid L Gabriel Navar Frank J Gonzalez Kafait U Malik

6β-Hydroxytestosterone, a cytochrome P450 1B1-derived metabolite of testosterone, contributes to the development of angiotensin II-induced hypertension and associated cardiovascular pathophysiology. In view of the critical role of angiotensin II in the maintenance of renal homeostasis, development of hypertension, and end-organ damage, this study was conducted to determine the contribution of 6...

Background and purpose: CYP1B1 is involved in the metabolism of exogenous and endogenous substrates and plays a key role in hormone and xenobiotic induced carcinogenesis. Polymorphisms in CYP1B1 could result in modifications in its enzyme activity and are known to be associated with cancer susceptibility related to environmental toxins and hormone exposure. Moreover, the association of CYP1B1 p...

Journal: :Cancer research 2005
Eleni Aklillu Steinar Øvrebø Ingrid V Botnen Charlotta Otter Magnus Ingelman-Sundberg

Cytochrome P450 1B1 (CYP1B1), an extrahepatic enzyme inducible by smoking, is overexpressed in many tumors and catalyzes the metabolic activation of procarcinogens such as polycyclic aromatic hydrocarbons. In human, CYP1B1 is genetically polymorphic and five common missense mutations causing amino acid substitution have been identified. In this study, we have investigated CYP1B1 haplotypes pres...

Journal: :Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2005
Wanqing Wen Qiuyin Cai Xiao-Ou Shu Jia-Rong Cheng Fritz Parl Larry Pierce Yu-Tang Gao Wei Zheng

Cytochrome P450 1B1 (CYP1B1) and catechol-O-methyltransferase (COMT) are important estrogen-metabolizing enzymes and, thus, genetic polymorphisms of these enzymes may affect breast cancer risk. A population-based case-control study was conducted to assess the association of breast cancer risk with CYP1B1 and COMT polymorphisms. A meta-analysis was done to summarize the findings from this and pr...

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