نتایج جستجو برای: DMD

تعداد نتایج: 4377  

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه گیلان - دانشکده علوم پایه 1391

دیستروفی عضلانی دوشن و بکر (dmd وbmd) بیماری های عصبی- عضلانی وابسته به x هستند که با ضعف پیشرونده ی عضلانی و تخریب ماهیچه های اسکلتی شناخته می شوند. جهش در ژن دیستروفین علت بیماری dmd و bmd است. ژن دیستروفین بزرگترین ژن انسانی است که در ناحیه ی xp2.1 قرار گرفته است. نوع جهش در 2/3 بیماران مبتلا به dmd/bmdحذف و مضاعف شدگی های بزرگ می باشد. 1/3 باقی مانده دارای جهش های نقطه ای، حذف های کوچک و دخ...

Journal: :Neuromuscular Disorders 2020

2001
Henry Salama

Prosthodontics, Scranton, Pennsylvania. ter of routine. However, in anterior implant -supported restorations, the successful achievement of the aesthetic goal can often be elusive. The task is made especially arduous when the potential implant recipient site lies within the lip perimeter and is compromised by significant hard and soft tissue defects and/or inharmonious occlusal combinations. Un...

2015
Frederique Ruf-Zamojski Vikas Trivedi Scott E. Fraser Le A. Trinh Atsushi Asakura

Dystrophin (Dmd) is a structural protein that links the extracellular matrix to actin filaments in muscle fibers and is required for the maintenance of muscles integrity. Mutations in Dmd lead to muscular dystrophies in humans and other vertebrates. Here, we report the characterization of a zebrafish gene trap line that fluorescently labels the endogenous Dmd protein (Dmd-citrine, Gt(dmd-citrin...

2015
Laurent Servais Marie Montus Caroline Le Guiner Rabah Ben Yaou Mélanie Annoussamy Amélie Moraux Jean-Yves Hogrel Andreea M. Seferian Karima Zehrouni Anne-Gaëlle Le Moing Teresa Gidaro Catherine Vanhulle Vincent Laugel Nina Butoianu Jean-Marie Cuisset Pascal Sabouraud Claude Cances Andrea Klein France Leturcq Philippe Moullier Thomas Voit

BACKGROUND Exon skipping therapy is an emerging approach in Duchenne Muscular Dystrophy (DMD). Antisense oligonucleotides that induce skipping of exon 51, 44, 45, or 53 are currently being evaluated in clinical trials. These trials were designed on the basis of data available in general DMD population. OBJECTIVES Our objective was to compare the clinical and functional statuses of non-ambulan...

2016
Won Ha Jo Lucy Youngmin Eun Jo Won Jung Jae Young Choi Seung Woong Gang

PURPOSE As cardiomyopathy is more prevalent and currently the leading cause of death in Duchenne muscular dystrophy (DMD), early detection of myocardial involvement is important. The purpose of this study was to analyze myocardial strain in DMD children, for the possibility of early detection of myocardial dysfunction. MATERIALS AND METHODS We reviewed medical records of DMD patients who were...

Journal: :genetics in the 3rd millennium 0
مینا حیات نو سعید mina hayat nosaeid molecular medicine department, biotechnology research center, pasteur institute of iran صادق فلاح محمد sadegh fallah mohammad kawsar genetics research center, tehran, iran رامک حیدری ramak heidari iran muscular dystrophy association tehran, iran سمانه فتحی آذر samaneh fathi azar 1- molecular medicine department, biotechnology research center, pasteur institute, tehran, ir سمیه جمالی somayeh jamali 1- molecular medicine department, biotechnology research center, pasteur institute, tehran, ir رضا مهدیان reza mahdian 1- molecular medicine department, biotechnology research center, pasteur institute, tehran, iran مرضیه رئیسی

duchenne muscular dystrophy (dmd) and becker muscular dystrophy (bmd) can be caused by deletions, duplications or point mutations in the dmd gene that encodes dystrophin. partial gene duplications account for up to 5-10 % of dmd and up to 5- 19% of bmd cases. cases with gene duplication in dmd/bmd are determined by quantitative methods such as maph, sothern blotting and q-pcr that are laborious...

2017
Leonela N. Luce Mercedes Abbate Javier Cotignola Florencia Giliberto

DMD gene mutations have been associated with the development of Dystrophinopathies. Interestingly, it has been recently reported that DMD is involved in the development and progression of myogenic tumors, assigning DMD a tumor suppressor activity in these types of cancer. However, there are only few reports that analyze DMD in non-myogenic tumors. Our study was designed to examine DMD expressio...

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