Results 21 to 30 of about 258,592 (266)

The role of transposable elements in the evolution of non-mammalian vertebrates and invertebrates [PDF]

Genome Biology 2010, 11:R59, 2010
Background: Transposable elements (TEs) have played an important role in the diversification and enrichment of mammalian transcriptomes through various mechanisms such as exonization and intronization (the birth of new exons/introns from previously intronic/exonic sequences, respectively), and insertion into first and last exons.
arxiv   +1 more source

Clinical heterogeneity in a family with flail arm syndrome and review of hnRNPA1‐related spectrum

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1910-1917, December 2022., 2022
Abstract Objective Flail arm syndrome (FAS) is one of the atypical subtypes of amyotrophic lateral sclerosis (ALS). Mutations in hnRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare genetic cause of ALS. Herein, marked clinical heterogeneity of FAS in a pedigree with a known hnRNPA1 variant was described to raise early ...
Xiaochen Han, Feixia Zhan, Yuxin Yao, Li Cao, Jianguo Liu, Sheng Yao   +5 more
wiley   +1 more source

Protein Modularity of Alternatively Spliced Exons Is Associated with Tissue-Specific Regulation of Alternative Splicing. [PDF]

PLoS Genetics, 2005
Recent comparative genomic analysis of alternative splicing has shown that protein modularity is an important criterion for functional alternative splicing events.
Yi Xing, Christopher J Lee
doaj   +2 more sources

Exon-Primed Intron-Crossing (EPIC) Markers for Evolutionary Studies of Ficus and Other Taxa in the Fig Family (Moraceae)

Applications in Plant Sciences, 2013
Premise of the study: The genus Ficus (fig trees) comprises ca. 750 species of trees, vines, and stranglers found in tropical forests throughout the world. Fig trees are keystone species in many tropical forests, and their relationship with host-specific
Xiaohong Yao, Chenhong Li, Christopher W. Dick   +2 more
doaj   +1 more source

The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1941-1952, December 2022., 2022
Abstract Objective The objectives of this study were to define the clinical and biochemical spectrum of spinal muscular atrophy with progressive myoclonic epilepsy (SMA‐PME) and to determine if aberrant cellular ceramide accumulation could be normalized by enzyme replacement.
Michelle M. Lee, Graeme S. V. McDowell, Darryl C. De Vivo, Daniel Friedman, Samuel F. Berkovic, Maria Spanou, Argirios Dinopoulos, Katheryn Grand, Pedro A. Sanchez‐Lara, Michelle Allen‐Sharpley, Jodi Warman‐Chardon, Alexander Solyom, Thierry Levade, Edward H. Schuchman, Steffany A. L. Bennett, David A. Dyment, Toni S. Pearson   +16 more
wiley   +1 more source

Duchenne and Becker muscular dystrophy: a molecular and immunohistochemical approach Distrofia muscular de Duchenne e Becker: abordagem molecular e imuno-histoquímica

Arquivos de Neuro-Psiquiatria, 2007
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by mutations in the dystrophin gene. We studied 106 patients with a diagnosis of probable DMD/BMD by analyzing 20 exons of the dystrophin gene in their blood and, in some of
Aline Andrade Freund, Rosana Herminia Scola, Raquel Cristina Arndt, Paulo José Lorenzoni, Claudia Kamoy Kay, Lineu Cesar Werneck   +5 more
doaj   +1 more source

SERpredict: Detection of tissue- or tumor-specific isoforms generated through exonization of transposable elements [PDF]

BMC Genetics 2007 8:78, 2008
Background: Transposed elements (TEs) are known to affect transcriptomes, because either new exons are generated from intronic transposed elements (this is called exonization), or the element inserts into the exon, leading to a new transcript. Several examples in the literature show that isoforms generated by an exonization are specific to a certain ...
arxiv   +1 more source

Comparative component analysis of exons with different splicing frequencies. [PDF]

PLoS ONE, 2009
Transcriptional isoforms are not just random combinations of exons. What has caused exons to be differentially spliced and whether exons with different splicing frequencies are subjected to divergent regulation by potential elements or splicing signals ...
Shiqin Song, Qianli Huang, Jiaming Guo, Jesse Li-Ling, Xueping Chen, Fei Ma   +5 more
doaj   +1 more source

Biased exonization of transposed elements in duplicated genes: A lesson from the TIF-IA gene [PDF]

BMC Molecular Biology 2007, 8:109, 2008
Background: Gene duplication and exonization of intronic transposed elements are two mechanisms that enhance genomic diversity. We examined whether there is less selection against exonization of transposed elements in duplicated genes than in single-copy genes.
arxiv   +1 more source

Comparative analysis of transposed element insertion within human and mouse genomes reveals Alu's unique role in shaping the human transcriptome [PDF]

Genome Biology 2007, 8:R127, 2008
Background: Transposed elements (TEs) have a substantial impact on mammalian evolution and are involved in numerous genetic diseases. We compared the impact of TEs on the human transcriptome and the mouse transcriptome. Results: We compiled a dataset of all TEs in the human and mouse genomes, identifying 3,932,058 and 3,122,416 TEs, respectively.
arxiv   +1 more source