نتایج جستجو برای: load skipping

تعداد نتایج: 151926  

Journal: :Human molecular genetics 2012
Zhen Zhi Tang Viktor Yarotskyy Lan Wei Krzysztof Sobczak Masayuki Nakamori Katy Eichinger Richard T Moxley Robert T Dirksen Charles A Thornton

Myotonic dystrophy type 1 and type 2 (DM1 and DM2) are genetic diseases in which mutant transcripts containing expanded CUG or CCUG repeats cause cellular dysfunction by altering the processing or metabolism of specific mRNAs and miRNAs. The toxic effects of mutant RNA are mediated partly through effects on proteins that regulate alternative splicing. Here we show that alternative splicing of e...

Journal: :Asia Pacific journal of clinical nutrition 2013
Tatsuhiko Kuroda Yoshiko Onoe Remi Yoshikata Hiroaki Ohta

UNLABELLED BACK GROUND AND AIMS: It is well known that insufficient nutrient intake leads to poor bone status. To find a simple evaluation method for prevention of nutrition intake disorder, a cross-sectional study with 275 healthy Japanese female students aged 19-25 was conducted. METHODS Anthropometric parameters, bone mineral density (BMD) at lumbar and total hip, bone metabolic markers an...

2017
M. Sakurai K. Yoshita K. Nakamura K. Miura T. Takamura S.Y. Nagasawa Y. Morikawa T. Kido Y. Naruse K. Nogawa Y. Suwazono S. Sasaki M. Ishizaki H. Nakagawa

OBJECTIVE This study investigated the relationship between frequency of skipping breakfast and annual changes in body mass index (BMI) and waist circumference (WC). METHODS The participants were 4,430 factory employees. BMI and WC were measured repeatedly at annual medical examinations over a 5-year period. The association between frequency of skipping breakfast at the baseline examination an...

2013
A Seda Yılmaz-Eliş Annemieke Aartsma-Rus Peter AC ‘t Hoen Huma Safdar Cor Breukel Bart JM van Vlijmen Judith van Deutekom Sjef de Kimpe Gert-Jan van Ommen J Sjef Verbeek

The cytokine interleukin 1(IL-1) initiates a wide range of proinflammatory cascades and its inhibition has been shown to decrease inflammation in a variety of diseases. IL-1 receptor accessory protein (IL-1RAcP) is an indispensible part of the IL-1R complex that stabilizes IL-1/IL-1R interaction and plays an important role in the signal transduction of the receptor complex. The soluble form of ...

2015
Yusuke Echigoya Vincent Mouly Luis Garcia Toshifumi Yokota William Duddy

The use of antisense 'splice-switching' oligonucleotides to induce exon skipping represents a potential therapeutic approach to various human genetic diseases. It has achieved greatest maturity in exon skipping of the dystrophin transcript in Duchenne muscular dystrophy (DMD), for which several clinical trials are completed or ongoing, and a large body of data exists describing tested oligonucl...

2016
Jerry R. Mendell Nathalie Goemans Linda P. Lowes Lindsay N. Alfano Katherine Berry James Shao Edward M. Kaye Eugenio Mercuri Hoda Abdel Hamid Barry J. Byrne Anne M. Connolly Robert A. Dracker L. Matthew Frank Peter T. Heydemann Kevin C. O'Brien Susan E. Sparks Linda A. Specht Louise Rodino‐Klapac Zarife Sahenk Samiah Al‐Zaidy Linda H. Cripe Sarah Lewis Pane M Mazzone E Messina S Vita GL D Amico A Bertini Berardinelli A Casimiro Torrente Y Magri F Comi GP Baranello G Mongini T Pini A Battini R Pegoraro E Bruno C Politano L Previtali S

OBJECTIVE To continue evaluation of the long-term efficacy and safety of eteplirsen, a phosphorodiamidate morpholino oligomer designed to skip DMD exon 51 in patients with Duchenne muscular dystrophy (DMD). Three-year progression of eteplirsen-treated patients was compared to matched historical controls (HC). METHODS Ambulatory DMD patients who were ≥7 years old and amenable to exon 51 skippi...

2010
Niki S. Holtzman Ruth Striegel-Moore

Objective: Much of the previous research on breakfast skipping and its associations with disordered eating, obesity, and depression has been limited by the use of different definitions “breakfast skipping.” The present study examines breakfast skipping and its associations with these negative health correlates in the Add Health Wave III sample of adolescents and young adults using all the defin...

2013
Tanya Zilberter Eugene Y. Zilberter

There is a consensus regarding the universal significance of breakfast (BF) for health, wellbeing, and cognition. The success of free school BF programs (e.g., Hasz and Lamport, 2012), which reportedly improve academic performance, fortifies this belief. However, studies showing cognitive effects of BF vs. skipping BF in large mixed cohorts of children (e.g., Wesnes et al., 2012) are often lack...

Journal: :Nucleic acid therapeutics 2012
Toshifumi Yokota Akinori Nakamura Tetsuya Nagata Takashi Saito Masanori Kobayashi Yoshitsugu Aoki Yusuke Echigoya Terence Partridge Eric P Hoffman Shin'ichi Takeda

Duchenne muscular dystrophy (DMD) is a severe and the most prevalent form of muscular dystrophy, characterized by rapid progression of muscle degeneration. Antisense-mediated exon skipping is currently one of the most promising therapeutic options for DMD. However, unmodified antisense oligos such as morpholinos require frequent (weekly or bi-weekly) injections. Recently, new generation morphol...

Journal: :Human gene therapy 2013
John Rendu Julie Brocard Eric Denarier Nicole Monnier France Piétri-Rouxel Cyriaque Beley Nathalie Roux-Buisson Brigitte Gilbert-Dussardier Marie José Perez Norma Romero Luis Garcia Joël Lunardi Julien Fauré Anne Fourest-Lieuvin Isabelle Marty

Central core disease is a myopathy often arising from mutations in the type 1 ryanodine receptor (RYR1) gene, encoding the sarcoplasmic reticulum calcium release channel RyR1. No treatment is currently available for this disease. We studied the pathological situation of a severely affected child with two recessive mutations, which resulted in a massive reduction in the amount of RyR1. The pater...

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