نتایج جستجو برای: dominant gain

تعداد نتایج: 295026  

Journal: :Human molecular genetics 2011
Géraldine Sicot Geneviève Gourdon Mário Gomes-Pereira

Expanded, non-coding RNAs can exhibit a deleterious gain-of-function causing human disease through abnormal interactions with RNA-binding proteins. Myotonic dystrophy (DM), the prototypical example of an RNA-dominant disorder, is mediated by trinucleotide repeat-containing transcripts that deregulate alternative splicing. Spliceopathy has therefore been a major focus of DM research. However, ch...

Journal: :The Journal of Cell Biology 2005
Gabriella Dobrowolny Cristina Giacinti Laura Pelosi Carmine Nicoletti Nadine Winn Laura Barberi Mario Molinaro Nadia Rosenthal Antonio Musarò

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by a selective degeneration of motor neurons, atrophy, and paralysis of skeletal muscle. Although a significant proportion of familial ALS results from a toxic gain of function associated with dominant SOD1 mutations, the etiology of the disease and its specific cellular origins have remained difficult ...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2012
Silvio A Beccara Tatjana Škrbić Roberto Covino Pietro Faccioli

We investigate the folding mechanism of the WW domain Fip35 using a realistic atomistic force field by applying the Dominant Reaction Pathways approach. We find evidence for the existence of two folding pathways, which differ by the order of formation of the two hairpins. This result is consistent with the analysis of the experimental data on the folding kinetics of WW domains and with the resu...

Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 2000
K Namikawa M Honma K Abe M Takeda K Mansur T Obata A Miwa H Okado H Kiyama

Motoneurons require neurotrophic factors for their survival and axonal projection during development, as well as nerve regeneration. By using the axotomy-induced neuronal death paradigm and adenovirus-mediated gene transfer, we attempted to gain insight into the functional significances of major growth factor receptor downstream cascades, Ras-extracellular signal-regulated kinase (Ras-ERK) path...

2014
M. B. V. Bell M. A. Cant C. Borgeaud N. Thavarajah J. Samson T. H. Clutton-Brock

In many animal societies, a small proportion of dominant females monopolize reproduction by actively suppressing subordinates. Theory assumes that this is because subordinate reproduction depresses the fitness of dominants, yet the effect of subordinate reproduction on dominant behaviour and reproductive success has never been directly assessed. Here, we describe the consequences of experimenta...

2016
Xiaoru Xia Caijun Dai Xiaochun Zhu Qiumei Liao Xu Luo Yangyang Fu Liangxing Wang

Familial cold autoinflammatory syndrome (FCAS) is an extremely rare autosomal dominant inherited disease. Although there are four genes that have been linked with FCAS, its molecular diagnosis has been challenging in a relatively large proportion of cases. In this study, we aimed to investigate the genetic defect of a recruited FCAS family using exome sequencing followed by in-depth bioinformat...

2006
Vasanthan Raghavan Akbar M. Sayeed

Multiple antennas at the transmitter and the receiver can be used to achieve diversity or multiplexing gain or a combination of the two gains. Most works to date study schemes that achieve either of the two extremes in this diversitymultiplexing trade-off. In this work, we assume communication with a fixed number (M ) of independent data-streams and a linear receiver architecture. Motivated by ...

2008
John P. McTague

This paper presents a dominant height and basal area response function for juvenile (ages 2-8) loblolly pine stands that have been fertilized with a combination dose of 200 lbs/ac of nitrogen and 50 lbs/ac of phosphorus. The data used to construct the response functions originated from the Region-wide 2 Study of the North Carolina State University Forest Nutrition Cooperative. The data set incl...

Journal: :Nature 1991

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