نتایج جستجو برای: human itpa protein

تعداد نتایج: 2478083  

2012
Josep Ma Guardiola Juliana Salazar Ferran Torres Cristina Pacho Ma del Mar Gutierrez Karuna Lamarca Angels Fontanet Jordi Martin Jessica Muñoz Francesc Vidal

42 Background 43 Polymorphisms of the ITPA gene have been associated with anemia during 44 combination therapy in HCV mono-infected patients. Our aim was to confirm this 45 association in HIV/HCV co-infected patients 46 Methods 47 In this prospective, observational study, 73 HIV/HCV co-infected patients treated with 48 Peg-IFN plus RBV were enrolled. Two SNPs within or adjacent to ITPA gene (rs...

Journal: :Exceptional children 1977
A Von Isser

ix CHAPTER I. EPILEPSY 1 Historical Perspective .... 2 Current Concepts and Diagnosis 4 Classification of the Epilepsies 7 Grand Mai 8 Petit Mai 9 Temporal Lobe or Psychomotor Seizures 10 Jacksonian 10 Prevalence 13 II. PSYCHOLOGICAL STUDIES OF CHILDREN WITH EPILEPSY. 16 The Intelligence of Epileptics 18 Institutionalized and Public School Epileptics 20 The Effects of Brain Damage 22 Deteriorat...

2017
Victoria Ekstrom Rajneesh Kumar Yi Zhao Mei Ling Yee Cynthia Sung Dorothy Toh Poh Yen Loh Jessica Tan Eng Kiong Teo Wan Cheng Chow

Background and aim: Conventional hepatitis C treatment using pegylated interferon (PEG-IFN) and ribavirin is associated with significant side effects. IL28B polymorphism can predict response to treatment, with CC genotype having a better response. ITPA gene deficiency protects against clinically significant anaemia induced by treatment. The purpose of this study was to determine IL28B polymorph...

Journal: :Twin research and human genetics : the official journal of the International Society for Twin Studies 2006
Yoko Kobayashi Kazuo Hayakawa Rituko Hattori Mikiko Ito Kenji Kato Chisato Hayashi Hiroshi Mikami

In general, twins have delayed language development early in childhood compared with singletons. The purpose of this study was to clarify the overall linguistic features of twins. A Japanese version of the Illinois Test of Psycholinguistic Abilities (ITPA) was administered in 24 twin pairs (aged 3 to 4 years) at their own homes. The overall language abilities of the twins were in the normal ran...

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه تربیت مدرس - دانشکده زیست شناسی 1390

هیپرتروفی قلبی (hcm) یکی از شایع ترین بیماری های قلبی-عروقی است و علامت بارز آن افزایش ضخامت دیواره بطن چپ در غیاب بار افزایش یافته خارجی است. hcm وdcm عمدتا" به واسطه جهش در ژن های کد کننده پروتئین های سارکومری رخ می دهند. اما اخیرا" مشخص شده است که موش هایی که ژن itpa در آن ها ناک اوت شده است علائمی شبیه hcm در انسان نشان می دهند. ژن itpa کد کننده ی آنزیم سیتوزولیitpase می باشد که نقش مهمی را...

2017
Roman Rietsche Matthias Söllner

Feedback is one of the most influential factor when it comes to learning success of students. Especially large-scale classes at universities often lack feedback caused by the scarcity of resources. Even though a lack of feedback is problematic across all domains, it is especially crucial when aiming to educate future managers, who are supposed to lead team members by providing effective feedbac...

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه تربیت مدرس - دانشکده علوم پایه 1387

آنزیم اینوزین تری فسفات پیروفسفاتاز (itpase) که توسط ژن itpa کد می شود عهده دار حفاظت سلول ها از طریق حذف نوکلئوتید های پورینی دآمینه سه فسفاته از مخزن نوکلئوتیدی می باشد. این نوکلئوتید های غیر طبیعی (itp، ditp، xtp) طی فرایند دآمیناسیون بازهای پورینی بوجود می آیند و به نظر می رسد افزایش غلظت و تجمع آن ها در شرایط خاصی مانند استرس برای سلول مضر می باشد و منجر به افزایش جهش ها و ناپایداری ژنتیکی...

Journal: :Mutation Research/Genetic Toxicology and Environmental Mutagenesis 2010

2013
Mazin A Zamzami John A Duley Gareth R Price Deon J Venter John W Yarham Robert W Taylor Laurence P Catley Timothy HJ Florin Anthony M Marinaki Francis Bowling

BACKGROUND Inosine triphosphate pyrophosphohydrolase (ITPase) is a 'house-cleaning' enzyme that degrades non-canonical ('rogue') nucleotides. Complete deficiency is fatal in knockout mice, but a mutant polymorphism resulting in low enzyme activity with an accumulation of ITP and other non-canonical nucleotides, appears benign in humans. We hypothesised that reduced ITPase activity may cause acq...

2012
Hyery Kim Hyoung Jin Kang Hyo Jeong Kim Mi Kyung Jang Nam Hee Kim Yongtaek Oh Byoung-Don Han Ji-Yeob Choi Chul Woo Kim Ji Won Lee Kyung Duk Park Hee Young Shin Hyo Seop Ahn

Genetic polymorphisms are important factors in the effects and toxicity of chemotherapeutics. To analyze the pharmacogenetic and ethnic differences in chemotherapeutics, major genes implicated in the treatment of acute lymphoblastic leukemia (ALL) were analyzed. Eighteen loci of 16 genes in 100 patients with ALL were analyzed. The distribution of variant alleles were CYP3A4*1B (0%), CYP3A5*3 (0...

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