نتایج جستجو برای: xerodermapigmentosum (xp)

تعداد نتایج: 3105  

Journal: :acta medica iranica 0
shokoufeh hajsadeghi department of cardiology, rasul-e-akramhospital, tehran university of medical sciences, tehran, iran. maral hejrati department of cardiology, tehran university of medical sciences, tehran, iran. samar moghadami department of cardiology, tehran university of medical sciences, tehran, iran. sahar rismantab internal medicine, rasul-e-akram hospital, tehran university of medical sciences, tehran, iran. parva namiranian department of cardiology, tehran university of medical sciences, tehran, iran.

xerodermapigmentosum (xp), is an autosomal recessivegenetic disorder of dna repair in which the ability to repair damage caused by ultraviolet (uv) light is deficient. the oxidative stress caused by decline catalase activity as an antioxidant enzyme, has been illustrated in these patients. this is the first case report of dilated cardiomyopathy in two patients with xp, a 26 year old girl and he...

زمینه و هدف موفقیت درمان مجدد ارتوگرید بستگی به پاکسازی و شکل دهی کافی نواحی دست نخورده سیستم کانال ریشه دارد. سیستم D-Race یکی از پرکاربرد ترین اینسترومنت های درمان مجدد است. هدف این تحقیق بررسی کارایی فایل روتاری XP-Endo Finisher (XP-F) در پاکسازی مواد باقی مانده در کانال ریشه بود. روش بررسی در این تحقیق آزمایشگاهی 45 دندان پرمولر تک کانال انسان بالغ با ریشه جمع آوری و ضدعفو...

خرده‌جمله سازه‌ای با ساختار [NP XP] است که متمم افعال خاصی همچون «پنداشتن» و دیگر افعال هم‌معنی آن واقع می‌شود. زنجیرۀ مذکور در برخی زبان‌ها همچون سوئدی، انگلیسی، عربی، فرانسوی و فارسی سازه‌ای تحت عنوان «بند کوچک» یا «خرده‌جمله» تشکیل می‌دهد. در توصیف این بندها، خرده‌جمله‌ها بندی فاقد فعل خودایستا، متمّم‌ساز و تصریف معرّفی می‌شوند که ساختار آنها به صورت [NP XP] است. (XP) در این بندها می‌تواند گرو...

Journal: :The Journal of the Association of Physicians of India 2016
Mathur A Manghera P Bhakal Ss Malhotra H

Xeroderma pigmentosum (XP) is a rare disorder, inherited as an autosomal recessive gemodermatosis. It is characterized by photosensitivity, freckly pigmented changes, premature skin ageing, telegiectasis, warty and papillomatous growth and malignant tumor development in later stage. It results from mutation in seven nucleotide excision repair gene (XP-A to XP-G complement groups) and post repli...

2013
Jin-Ping Lai Yen-Chun Liu Meghna Alimchandani Qingyan Liu Phyu Phyu Aung Kant Matsuda Chyi-Chia R Lee Maria Tsokos Stephen Hewitt Elisabeth J Rushing Deborah Tamura David L Levens John J DiGiovanna Howard A Fine Nicholas Patronas Sikandar G Khan David E Kleiner J Carl Oberholtzer Martha M Quezado Kenneth H Kraemer

BACKGROUND To investigate the association of DNA nucleotide excision repair (NER) defects with neurological degeneration, cachexia and cancer, we performed autopsies on 4 adult xeroderma pigmentosum (XP) patients with different clinical features and defects in NER complementation groups XP-A, XP-C or XP-D. RESULTS The XP-A (XP12BE) and XP-D (XP18BE) patients exhibited progressive neurological...

2009

i) 8 (p;Xp) 2 TM , as p 2M ) there exists (U ; ) 2 S such that p 2 U ; i.e. (p;Xp) 2 TU , and we have TU =  1 (R) 2 . ii) If we de…ne F : TpM ! R by F (Xp) = (Xp(x); Xp(x); :::::; Xp(x)) where x; x; ::::; x are local coordinates on (U ; ), then clearly F is an isomorphism, so  (p; Xp) = ( (p); F ( Xp)); and  1 = ( 1 ; F 1 ). Now take  1 (U);  1 (V ) 2 and suppose (p; Xp) 2  1 (U)\  1 (V ...

2006
Nikola A Bowden Paul A Tooney Rodney J Scott

Xeroderma pigmentosum (XP) is a rare recessive disorder that is characterized by extreme sensitivity to UV light. UV light exposure results in the formation of DNA damage such as cyclobutane dimers and (6-4) photoproducts. Nucleotide excision repair (NER) orchestrates the removal of cyclobutane dimers and (6-4) photoproducts as well as some forms of bulky chemical DNA adducts. The disease XP is...

2017
Valerie Natale Hayley Raquer

Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651). Published information on XP-CS is mostly scattered throughout the literature. We compiled statistics related to symptom prevalence in XP-CS and have written a clinical description of the syndrome. We also drew on clinical practices used in XP an...

Journal: :Journal of Experimental Medicine 2009

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