نتایج جستجو برای: cyp1b1 gene mutation

تعداد نتایج: 1285161  

2017
Young-Shin Park Yeo-Jung Kwon Young-Jin Chun

Cytochrome P450 1B1 (CYP1B1) acts as a hydroxylase for estrogen and activates potential carcinogens. Moreover, its expression in tumor tissues is much higher than that in normal tissues. Despite this association between CYP1B1 and cancer, the detailed molecular mechanism of CYP1B1 on cancer progression in HeLa cells remains unknown. Previous reports indicated that the mRNA expression level of H...

Journal: :Drug metabolism and disposition: the biological fate of chemicals 2008
Mostafizur Rahman Sigurd F Lax Carrie H Sutter Quynh T Tran Gaylene L Stevens Gary L Emmert Jose Russo Richard J Santen Thomas R Sutter

CYP1B1 and CYP19 (aromatase) have been shown to be expressed in breast tumors. Both enzymes are efficient estrogen hydroxylases, indicating the potential for overlapping substrate and inhibitor specificity. We measured the inhibition properties of aromatase inhibitors (AIs) against CYP1B1-catalyzed hydroxylation of 17beta-estradiol (E2) to determine whether CYP1B1 affects the disposition of AIs...

Journal: :acta medica iranica 0
p. fard-esfahani p. mohammadi-torbati s. khatami s. zeinali m. taghikhani m. allahyari

familial defective apolipoprotein (apo) b 100 (fdb) causes early-onset coronary heart diseases (chd). it is produced by r3500q mutation of the apob gene resulting in decreased binding of ldl to ldl receptor. we screened the apo b gene for r3500q mutation in 130 hypercholesterolemic patients, among whom 30 patients met criteria of familial hypercholesterolemia (fh). the prevalence of r3500q alle...

جلیلوند, منیژه, شکاری, محمد, علومی, مانا, علی زاده, صفرعلی, نجاتی زاده, عبدل عظیم, نجفی پور, رضا,

Background & Objectives: Breast cancer is the most common cancer among women and the second most common cause of cancer death. Genetic factors play an important role in the development of breast cancer. Among these genetic factors, CHEk2 (checkpoint kinase 2) gene, as a tumor suppressor gene, plays a critical role in DNA repair. Germline mutations in CEHK2 result in the loss of this feature. On...

A Mirzaeyan A Rashki A Salehi E Memarzadeh Fatemeh Azadegan Dehkordi H GHatreh M Hashemzadeh chaleshtari N Bagheri N Yazdan Panahi S Heidari Z Rashki

Background & Aims: Keratoconus (KC) is an eye disorder in which the cornea is swollen, thinned and deformed. Despite extensive studies, the pathophysiological processes and genetic etiology of KC is unknown. The disease incidence is approximately 1 in 2000 and is the most common cause of corneal transplantation in the US. Many genes are involved in the disease, but evidence suggests a major rol...

Journal: :Menopause 2014
Samantha F Butts Mary D Sammel Christine Greer Timothy R Rebbeck David W Boorman Ellen W Freeman

OBJECTIVE This study aims to evaluate associations between variations in genes involved in the metabolism of environmental chemicals and steroid hormones and risk of menopause in smokers. METHODS Survival analysis was performed on 410 eligible participants from the Penn Ovarian Aging study (ongoing for 14 years), a cohort study of late-reproductive-age women. Single nucleotide polymorphisms a...

Pezhman Fard-Esfahani, Shohreh Khatami

  Background and Objective: Familial hypercholesterolemia (FH) is an autosomal trait, which is caused by mutations in Low Density Lipoprotein Receptor (LDLR) gene. FH penetrance is about 100% and worldwide prevalence for heterozygous subjects is almost 1 in 500 and for homozygous 1 in 1,000,000. The patients are at risk of premature coronary heart disease (CHD) due to defective LDLR a...

ژورنال: :gene, cell and tissue 0
farah talebi department of genetic, faculty of sciences, shahid chamran university of ahvaz, ahvaz, ir iran farideh ghanbari department of genetic, faculty of sciences, shahid chamran university of ahvaz, ahvaz, ir iran; department of genetic, faculty of sciences, shahid chamran university of ahvaz, ahvaz, ir iran. tel/fax: +98-6136233884 javad mohammadi asl department of medical genetics, faculty of medicine, ahvaz jundishapur university of medical sciences, ahvaz, ir iran

conclusions bioinformatics analyses using sift, mutation taster and polyphen-2 indicated that p.ile563val was predicted to be damaging, disease causing, and probably damaging to and causing ldb3 dysfunction. as such, this mutation produces novel protein coding transcripts, which might explain the mfm phenotype in the patient. introduction myofibrillar myopathy (mfm) is a rare human disease, cha...

Background: Systemic-onset Juvenile Idiopathic Arthritis (SoJIA) is an autoinflammatory disease with complex genetic trait starts in children less than 16 years of age with fever and cutaneous rash. Despite, the main genetic factors that may play a role in SoJIA have not yet been identified. High level of interleukin-1beta in the blood of SoJIA patients has been reported. The production and sec...

Journal: :Drug metabolism and disposition: the biological fate of chemicals 2009
Grace S Leung Masahiko Kawai Jenny K Tai Jie Chen Stelvio M Bandiera Thomas K H Chang

Mammalian testis expresses xenobiotic-metabolizing enzymes, including cytochrome P450 1B1 (CYP1B1), which catalyzes the bioactivation of procarcinogens and other chemicals. The factors that control testicular expression of CYP1B1 are largely not known. In the present study, we investigated the influence of age and pituitary, gonadal, and thyroid hormones on CYP1B1 expression in rat testis. Immu...

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