نتایج جستجو برای: cyp1b1 gene mutation

تعداد نتایج: 1285161  

Journal: :Health Sciences Quarterly 2022

CYP1B1 is a P450 enzyme involved in activating pro-carcinogens to carcinogens as well estrogen metabolism. In order examine the effect of on cancer metabolism, it should be compared with healthy individuals and whether polymorphism between sick significant. This study aims screen CYP1B1*3 CYP1B1*4 polymorphisms group who have not been diagnosed genetic differences metabolic enzymes Turkish popu...

Journal: :Journal of medical genetics 2003
R Sitorus S M Ardjo B Lorenz M Preising

Primary congenital glaucoma (PCG) is an autosomal recessive disease, caused by unknown developmental defect(s) of the trabecular meshwork and anterior chamber angle. It manifests itself clinically during the neonatal or infantile period. The disease is characterised by high intraocular pressure (IOP), buphthalmos with corneal enlargement, and breaks in Descemet’s membrane. Two chromosomal locat...

2009
K. Kato A. Kamida N. Sasaki B.S. Shastry

PURPOSE In humans, primary open-angle glaucoma (POAG) is a complex genetic disorder and is the leading cause of visual impairment. Although all relevant genes were not identified, a small subset of the condition is found to be caused by mutations in the MYOC and CYP1B1 genes. Inherited glaucoma also occurs in several breeds of dogs including beagles. Primary glaucoma in beagles is inherited as ...

2009
Stefan El-Gayar Anuradha Ganesh Gabriela Chavarria-Soley Sana Al-Zuhaibi Rayhanah Al-Mjeni Sandy Raeburn Alexander A. Bialasiewicz

PURPOSE To screen cytochrome P4501B1 (CYP1B1) for causative mutations in Omani patients with a clinical diagnosis of primary congenital glaucoma (PCG) METHODS: Nine PCG families were recruited for the study. All patients underwent detailed clinical examinations to confirm the diagnosis of PCG. The families of index patients were also examined. Genealogical information was obtained by pedigree a...

Journal: :iranian journal of biotechnology 2013
majid motovali-bashi mostafa biglari halimeh rezaei fariba dehghanian

background: lung cancer is considered as one of the most frequent cancers worldwide, and has been the cause of more than onemillion mortalities each year. exposure to tobacco smoke is the primary cause of most lung cancers, since it contains several thousandcompounds, including more than 50 known carcinogens. however, a small fraction of individuals who are exposed to tobacco smokedevelop lung ...

Journal: :Ophthalmic genetics 2011
Italo Giuffre'

Purpose: Congenital glaucoma (CG) results from poorly understood developmental abnormalities of the aqueous drainage structures and is clinically characterized by high intraocular pressure (IOP), epiphora, corneal oedema, photophobia, blepharospasm and ocular enlargement. To date, more than 50 pathogenic mutations in the CYP1B1 gene, a member of the cytochrome P450 gene family, have been report...

Journal: :Frontiers in Pharmacology 2021

Downregulation of drug metabolizing enzymes and transporters by proinflammatory mediators in hepatocytes, enterocytes renal tubular epithelium is an established mechanism affecting pharmacokinetics. Emerging evidences indicate that vascular endothelial cell expression may regulate pharmacokinetic pathways heart to modulate local bioavailability toxicity. However, whether inflammation regulates ...

ژورنال: پژوهش در پزشکی 2016

 Prostate cancer (PCa) is the most common non-skin cancer and the second leading cause of cancer death among men in the world. Growth, maintenance and the expression of genes involved in the production of steroids, may alter the susceptibility of prostate cancer. One such gene, CYP1B1 (cytochrome P450, family 1, subfamily B, polypeptide 1) is involved in the activation of many carcinogens and i...

Journal: :Cancer prevention research 2014
Amit Kochhar Levy Kopelovich Erika Sue Joseph B Guttenplan Brittney-Shea Herbert Andrew J Dannenberg Kotha Subbaramaiah

The aryl hydrocarbon receptor (AhR), a client protein of heat shock protein 90 (Hsp90), is a ligand-activated transcription factor that plays a role in polycyclic aromatic hydrocarbon (PAH)-induced carcinogenesis. Tobacco smoke activates AhR signaling leading to increased transcription of CYP1A1 and CYP1B1, which encode proteins that convert PAHs to mutagens. Recently, p53 was found to regulate...

2016
Shazia Micheal Sorath Noorani Siddiqui Saemah Nuzhat Zafar Aftab Iqbal Muhammad Imran Khan Anneke I. den Hollander

BACKGROUND Primary congenital glaucoma (PCG) is the most common form of glaucoma in children. PCG occurs due to the developmental defects in the trabecular meshwork and anterior chamber of the eye. The purpose of this study is to identify the causative genetic variants in three families with developmental and primary congenital glaucoma (PCG) with a recessive inheritance pattern. METHODS DNA ...

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