نتایج جستجو برای: cyp17 gene

تعداد نتایج: 1141607  

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه تربیت مدرس - دانشکده علوم پزشکی 1391

مطالعات انجام شده روی مکانیسمهای تکوینی و تکاملی گلبولهای قرمز منجر به دستیابی بشر به مفاهیم پایه و مهمی در ارتباط با مکانیسمهای عمومی تنظیم بیان ژن وشکل گیری بافتها شده است. تمایز اختصاصی به رده ارتیروئید و هر رده دیگری، شدیداً وابسته به تنظیم در سطح بیان ژن و فاکتورهای کنترلی خاص نظیر سیتوکین ها، فاکتورهای نسخه برداری ویژه، عناصر کنترل کننده چرخه سلولی، تکثیر،آپوپتوز و عناصر سیگنالینگ داخل سلو...

Journal: :Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2004
Shelley S Tworoger Jessica Chubak Erin J Aiello Cornelia M Ulrich Charlotte Atkinson John D Potter Yutaka Yasui Patricia L Stapleton Johanna W Lampe Federico M Farin Frank Z Stanczyk Anne McTiernan

Women with high circulating estrogen concentrations have an increased risk of breast cancer; thus, it is important to understand factors, including genetic variability, that influence estrogen concentrations. Several genetic polymorphisms that may influence sex hormone concentrations have been identified, including CYP17 (5'-untranslated region T-->C), CYP19 [intron 4 (TTTA)(n = 7-13) and a 3-b...

Journal: :Arquivos brasileiros de endocrinologia e metabologia 2010
Marcos S Neres Richard J Auchus Cedric H L Shackleton Claudio E Kater

OBJECTIVES (1) Characterize serum (S) and urinary (U) steroid metabolites in complete CYP17 deficiency (cCYP17D); (2) analyze the relative 17α-hydroxylase (17OH) and 17,20-lyase (17,20L) activities in vivo; and (3) comparedata from the two most prevalent mutations in Brazil. SUBJECTS AND METHODS 20 genotyped cCYP17D patients from a previously reported cohort were homozygous for W406R or R362C...

Journal: :Lancet 2004
Wiebke Arlt Elizabeth A Walker Nicole Draper Hannah E Ivison Jon P Ride Fabian Hammer Susan M Chalder Maria Borucka-Mankiewicz Berthold P Hauffa Ewa M Malunowicz Paul M Stewart Cedric H L Shackleton

BACKGROUND Congenital adrenal hyperplasia with apparent combined P450C17 and P450C21 deficiency is associated with accumulation of steroid metabolites, indicating impaired activity of 17alpha-hydroxylase and 21-hydroxylase. However, no mutations have been reported in the CYP17 and CYP21 genes, which encode these P450 enzymes. Affected girls are born with ambiguous genitalia, but their circulati...

2017
Nesa Marti Nadia Bouchoucha Kay-Sara Sauter Christa E Flück

Resveratrol, a natural compound found in grapes, became very popular for its suggested protective effects against aging. It was reported to have similar positive effects on the human metabolism as caloric restriction. Recently, positive effects of resveratrol on steroid biosynthesis in cell systems and in humans suffering from polycystic ovary syndrome have also been reported, but the exact mec...

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