نتایج جستجو برای: a3243g 5kb

تعداد نتایج: 218  

ژورنال: :فیض 0
مجتبی آدینه mojtaba adine احمد طالبیان ahmad talebian department of pediatrics, faculty of medicine, kashan university of medical sciences, kashan, i. r. iranکاشان، کیلومتر 5 بلوار قطب راوندی ، بیمارستان شهید بهشتی ابراهیم کوچکی abrahim koochaki

سابقه و هدف: سندروم آنسفالوپاتی میتوکندریال همراه با اسیدوز لاکتیک و حملات شبیه سکته مغزی، اختلالی در چندین ارگان بدن به ویژه در سیستم عصبی مرکزی (آنسفالوپاتی) و در عضلات (میوپاتی) است که با وراثت مادری و در نتیجه جهش در ژنوم میتوکندری ایجاد می شود. دوره هایی از علایم مانند سردرد، تشنج، اختلالات بینایی، ناشنوایی پیش رونده و اختلالات شناختی در بیماران (اغلب تا 40 سالگی) ایجاد می شود. معرفی بیمار...

Journal: :Journal of neurology, neurosurgery, and psychiatry 1996
G M Fabrizi E Cardaioli G S Grieco T Cavallaro A Malandrini L Manneschi M T Dotti A Federico G Guazzi

OBJECTIVE To verify the phenotype to genotype correlations of mitochondrial DNA (mtDNA) related disorders in an atypical maternally inherited encephalomyopathy. METHODS Neuroradiological, morphological, biochemical, and molecular genetic analyses were performed on the affected members of a pedigree harbouring the heteroplasmic A to G transition at nucleotide 3243 of the mitochondrial tRNALeu(...

2003
Gian Maria Fabrizi Elena Cardaioli Gaetano Salvatore Tiziana Cavallaro Alessandro Malandrini Letizia Manneschi Maria Teresa Dotti Antonio Federico Giancarlo Guazzi

Received 31 October 1995 and in final revised form 19 February 1996 Accepted 23 February 1996 Abstract Objective-To verify the phenotype to genotype correlations of mitochondrial DNA (mtDNA) related disorders in an atypical maternally inherited encephalomyopathy. Methods-Neuroradiological, morphological, biochemical, and molecular genetic analyses were performed on the affected members of a ped...

2012
Young Min Cho Ju Han Kim Mingoo Kim Su Jin Park Sang Hyeok Koh Hyo Seop Ahn Gyeong Hoon Kang Jung-Bin Lee Kyong Soo Park Hong Kyu Lee

It has been reported that human mesenchymal stem cells (MSCs) can transfer mitochondria to the cells with severely compromised mitochondrial function. We tested whether the reported intercellular mitochondrial transfer could be replicated in different types of cells or under different experimental conditions, and tried to elucidate possible mechanism. Using biochemical selection methods, we fou...

Journal: :Diabetes care 2003
Katharine R Owen Amanda Stride Sian Ellard Andrew T Hattersley

OBJECTIVE Young adults with newly diagnosed apparent type 2 diabetes present the clinician with a wide differential diagnosis of possible etiology, including autoimmune and genetic causes as well as young-onset type 2 diabetes (YT2D). The characteristics of these groups have been described, but it is not known in which subjects investigation for etiology may be beneficial. RESEARCH DESIGN AND...

Journal: :Investigative ophthalmology & visual science 2004
Caren Bellmann Magella M Neveu Hendrik P N Scholl Chris R Hogg Pamela P Rath Sharon Jenkins Alan C Bird Graham E Holder

PURPOSE To investigate retinal function in patients with maternally inherited diabetes and deafness (MIDD) and to correlate the findings with fundus autofluorescence (FAF) imaging. METHODS FAF was imaged in five patients (age range, 49-60 years) confirmed to have the mitochondrial DNA nucleotide A3243G point mutation. Retinal function was measured by full-field (Ganzfeld) electroretinography ...

2001
Daniel H. Geschwind Joseph D. Dougherty Lili C. Kudo Stanislav Karsten

1) Introduction 2) What is a microarray? a) Experimental steps in a typical cDNA microarray experiment b) If you don?t see it, it doesn?t mean that it isn?t there. 3) Experimental Design a) Comparing independent ?replicate? arrays b) ?A vs. M? plot. 4) Informatic Annotation of Array Data 5) Initial annotation of gene list based on published literature a) Linking array data to the literature b) ...

2016
Yuan-Hao Chang

The problem of low space utilization (Fig. 1). E mbedded/mobile computing systems are usually battery-powered devices and are widely adopted in various application domains. Due to cost and energy considerations, they usually have limited computing power, RAM space, and storage capacity. However, recent improvements in embedded/ mobile computing systems' computing ability have allowed some embed...

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