نتایج جستجو برای: expandable dna repeat

تعداد نتایج: 570229  

2009
Herre van Oostendorp Mari Carmen Puerta Melguizo

Success in finding information in a website depends not only on the complexity of the information retrieval task per se but also on the way information is made accessible. We explored the role of navigation menus when performing information retrieval tasks. We compared expandable menus with sequential menus. Expandable menus preserve the full context of choice while the user is browsing. Sequen...

Journal: :Journal of Thoracic Disease 2023

Background: Limited studies have focused on the performance of self-expandable valves (SEVs) and balloon-expandable (BEVs) in patients with dilatated ascending aorta (AA) undergoing transcatheter aortic valve replacement (TAVR). The present study compared widely used Edwards BEVs domestic SEVs AA among Chinese population.

Objective(s): Jervell and Lange–Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome. Methods: Here we present a 3.5-year-old female patient, an offspring of consanguineous marriage, who had a history of recurrent syncope and congenital sensorineural deafness. The patient ...

Journal: :JACC. Cardiovascular interventions 2016
Taner Seker Armagan Acele Mustafa Topuz Yucel Colkesen

W e describe a case of post-operative displacement of an aortic coarctation (CoA) stent, which was determined 6 months after deployment. A 21-year-old woman with history of surgery for CoA in early childhood presented with fatigue and shortness of breath. Cardiac catheterization and aortography showed a recurrence of CoA. An 18 42-mm Sinus-XL (Optimed XL, Ettlingen, Germany) self-expandable ste...

2011
Martin C. Frith

Biological sequences are often analyzed by detecting homologous regions between them. Homology search is confounded by simple repeats, which give rise to strong similarities that are not homologies. Standard repeat-masking methods fail to eliminate this problem, and they are especially ill-suited to AT-rich DNA such as malaria and slime-mould genomes. We present a new repeat-masking method, TAN...

Journal: :Frontiers in bioscience : a journal and virtual library 2003
Robert S Lahue Danielle L Slater

enes harboring certain trinucleotide repeat (TNR) sequences are at risk for high-frequency mutations that expand or contract the repeat tract. The triplet sequences CNG (where N = any nucleotide) and GAA are known to cause human disease when they expand by more than a few repeats in certain key genes. One of the crucial questions in the field is the mechanism (or, more likely, mechanisms) of tr...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1979
J C Wang

The helical repeat of DNA in solution has been measured directly by analyzing the gel electrophoretic patterns of pairs of covalently closed DNAs with length differences between 1 and 58 base pairs, out of a total length of about 4350 base pairs per DNA molecule. The method is based on the observation that for a covalently closed DNA of a fixed size of n base pairs (n of the order of several th...

Journal: :Current opinion in genetics & development 2013
Jane C Kim Sergei M Mirkin

Expansions of microsatellite DNA repeats contribute to the inheritance of nearly 30 developmental and neurological disorders. Significant progress has been made in elucidating the molecular mechanisms of repeat expansions using various model organisms and mammalian cell culture, and models implicating nearly all DNA transactions such as replication, repair, recombination, and transcription have...

Journal: :genetics in the 3rd millennium 0
الهام خلیلی elham khalili special medical center, tehran, iran مسعود هوشمند masoud houshmand مهدی شفا شریعت پناهی mahdi shafa shariat panahi شهریار نفیسی shahriar nafissi اکبر سلطان زاده akbar soltanzadeh امید آریانی omid ariani

friedreich’s ataxia (fa) is the commonest genetic cause of ataxia and is associated with the expansion of a gaa repeat in intron 1 of the frataxin gene. iron accumulation in the mitochondria of patients with fa results in hypersensitivity to oxidative stress. mitochondrial dna (mtdna) could be considered a candidate modifier factor for fa disease since mitochondrial oxidative stress is thought ...

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