Results 61 to 70 of about 645,043 (338)

Very severe spinal muscular atrophy (Type 0)

Avicenna Journal of Medicine, 2017
This case report describes a rare phenotype of very severe spinal muscular atrophy (SMA) in a newborn who presented with reduced fetal movements in utero and significant respiratory distress at birth.
Suleiman Al Dakhoul
doaj   +1 more source

Exon skipping for DMD [PDF]

Orphanet Journal of Rare Diseases, 2012
Duchenne muscular dystrophy (DMD) is a severe, progressive muscle-wasting disorder, while Becker muscular dystrophy (BMD) is milder muscle disease [1]. Both are caused by mutations in dystrophin, a protein, which stabilizes muscle fibers during contraction by linking muscle actin to the extracellular matrix.
Annemieke Aartsma-Rus, Judith C.T. van Deutekom, Jan J.G.M. Verschuuren, G. Campion, Gert-Jan B. van Ommen   +4 more
openaire   +2 more sources

FreePSI: an alignment-free approach to estimating exon-inclusion ratios without a reference transcriptome. [PDF]

, 2017
Alternative splicing plays an important role in many cellular processes of eukaryotic organisms. The exon-inclusion ratio, also known as percent spliced in, is often regarded as one of the most effective measures of alternative splicing events.
Jiang, Tao, Ma, Shining, Wang, Dongfang, Zeng, Jianyang, Zhou, Jianyu   +4 more
core   +1 more source

Selecting informative features of human gene exons

Журнал Белорусского государственного университета: Математика, информатика, 2019
Dimensionality reduction of the human gene exon feature space is considered with the aim of gene identification. To evaluate the performance of various feature selection algorithms, computational experiments were carried out using the examples of exons ...
Andrei V. Volkau, Mikalai M. Yatskou, Vasily V. Grinev   +2 more
doaj   +1 more source

Characterization of Global DNA Methylation in Different Gene Regions Reveals Candidate Biomarkers in Pigs with High and Low Levels of Boar Taint

Veterinary Sciences, 2020
DNA methylation of different gene components, including different exons and introns, or different lengths of exons and introns is associated with differences in gene expression.
Xiao Wang, Haja N. Kadarmideen
doaj   +1 more source

The contribution of Alu exons to the human proteome. [PDF]

, 2016
BackgroundAlu elements are major contributors to lineage-specific new exons in primate and human genomes. Recent studies indicate that some Alu exons have high transcript inclusion levels or tissue-specific splicing profiles, and may play important ...
Jiang, Peng, Lam, Maggie PY, Lin, Lan, Lu, Zhi-Xiang, Park, Juw Won, Ping, Peipei, Wang, Jinkai, Xing, Yi   +7 more
core   +1 more source

Unexpected Compensatory Increase in Shank3 Transcripts in Shank3 Knock-Out Mice Having Partial Deletions of Exons

Frontiers in Molecular Neuroscience, 2019
Genetic variants of the SH3 and multiple ankyrin repeat domains 3 (SHANK3) gene, which encodes excitatory postsynaptic core scaffolds cause numerous brain disorders.
Chunmei Jin, Chunmei Jin, Hyae Rim Kang, Hyae Rim Kang, Hyojin Kang, Yinhua Zhang, Yinhua Zhang, Yeunkum Lee, Yeunkum Lee, Yoonhee Kim, Yoonhee Kim, Kihoon Han, Kihoon Han   +12 more
doaj   +1 more source

Exon-phase symmetry and intrinsic structural disorder promote modular evolution in the human genome [PDF]

, 2013
A key signature of module exchange in the genome is phase symmetry of exons, suggestive of exon shuffling events that occurred without disrupting translation reading frame.
Adams, Balazs, Buljan, Burra, Corvelo, Daughdrill, Davey, Davey, Diella, Dosztanyi, Dosztanyi, Dyson, Eva Schad, Fedorov, Fisher, Fujita, Fuxreiter, Fuxreiter, Gilbert, Greaser, Grover, Hernandez, Kaessmann, Kalmar, Kaplon, Kato, Kawasaki, Kiss, Kiss, Kovacs, Lajos Kalmar, Lee, Li, Long, Meszaros, Mittag, Modrek, Mosca, Oliver, Pancsa, Patthy, Patthy, Patthy, Pentony, Peter Tompa, Punta, Romero, Sarkar, Seet, Sire, Tompa, Tompa, Tompa, Tompa, Tompa, Tompa, Uversky, Van Roey, Vucetic, Ward, Weatheritt, Weatheritt, Zhang   +62 more
core   +1 more source

Improved ontology for eukaryotic single-exon coding sequences in biological databases [PDF]

, 2018
Indexación: Scopus.Efficient extraction of knowledge from biological data requires the development of structured vocabularies to unambiguously define biological terms. This paper proposes descriptions and definitions to disambiguate the term 'single-exon
Clausen, P., González, C., Holmes, D.S., Jorquera, R., Petersen, B.   +4 more
core   +2 more sources

Targeting SR proteins improves SMN expression in spinal muscular atrophy cells. [PDF]

PLoS ONE, 2014
Spinal muscular atrophy (SMA) is one of the most common inherited causes of pediatric mortality. SMA is caused by deletions or mutations in the survival of motor neuron 1 (SMN1) gene, which results in SMN protein deficiency.
Claribel D Wee, Mallory A Havens, Francine M Jodelka, Michelle L Hastings   +3 more
doaj   +1 more source