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1997, Frontiers in molecular biology, ISBN 9780199634170, Volume 17, xviii, 378
Book
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 2/2010, Volume 107, Issue 5, pp. 1894 - 1899
Journal Article
Nature Genetics, ISSN 1061-4036, 04/2002, Volume 30, Issue 4, pp. 377 - 384
Journal Article
Nature, ISSN 0028-0836, 10/2011, Volume 478, Issue 7367, pp. 123 - 126
Spinal muscular atrophy (SMA) is a motor neuron disease and the leading genetic cause of infant mortality; it results from loss-of-function mutations in the... 
SURVIVAL | IGF-I | DISEASES | MULTIDISCIPLINARY SCIENCES | GROWTH | PHENOTYPE | MICE | CARDIAC DEFECTS | DELIVERY | Spinal Cord - metabolism | Longevity - drug effects | Humans | Glycoproteins - metabolism | RNA, Messenger - analysis | Survival of Motor Neuron 2 Protein - metabolism | Motor Neurons - pathology | Muscular Atrophy, Spinal - genetics | Spinal Cord - pathology | Survival of Motor Neuron 2 Protein - genetics | Survival of Motor Neuron 1 Protein - genetics | RNA Isoforms - analysis | Glycoproteins - deficiency | Spinal Cord - cytology | Transgenes | Muscular Atrophy, Spinal - physiopathology | Motor Neurons - drug effects | Disease Models, Animal | Animals, Newborn | Muscular Atrophy, Spinal - metabolism | Oligonucleotides, Antisense - pharmacology | RNA Isoforms - genetics | Growth Hormone - metabolism | Alternative Splicing - genetics | Liver - metabolism | RNA, Messenger - genetics | Kaplan-Meier Estimate | Insulin-Like Growth Factor I - deficiency | Mice, Transgenic | Muscular Atrophy, Spinal - pathology | Motor Neurons - metabolism | Rotarod Performance Test | Alternative Splicing - drug effects | Animals | Carrier Proteins - metabolism | Oligonucleotides, Antisense - genetics | Oligonucleotides, Antisense - administration & dosage | Mice | Insulin-Like Growth Factor I - metabolism | Complications and side effects | Care and treatment | Gene mutations | Patient outcomes | Genetic aspects | Infants | Research | Diagnosis | Risk factors | Spinal muscular atrophy | Gene expression | Medical research | Rodents | Index Medicus
Journal Article
Journal Article
Journal Article
Journal Article
Bioinformatics (Oxford, England), ISSN 1367-4803, 05/2019
Percent Spliced-In (PSI) values are commonly used to report alternative pre-mRNA splicing (AS) changes. Previous PSI-detection tools were limited to specific... 
Journal Article
Science, ISSN 0036-8075, 01/2015, Volume 347, Issue 6218, pp. 1254806 - 1254806
To facilitate precision medicine and whole-genome annotation, we developed a machine-learning technique that scores how strongly genetic variants affect RNA... 
MESSENGER-RNA | FUNCTIONAL IMPACT | MULTIDISCIPLINARY SCIENCES | AUTISM SPECTRUM DISORDER | MISMATCH REPAIR | EXONIC VARIANTS | HUMAN CANCERS | COPY NUMBER VARIATION | MISSENSE MUTATIONS | GENOME | PREDICTION | Genetics | Eukaryotes | Disease | Ribonucleic acid--RNA | Binding sites | Proteins | Medicine | Mutations | Splicing | Ribonucleic acids | Mathematical models | Gene sequencing
Journal Article
Proceedings of the National Academy of Sciences, ISSN 0027-8424, 07/2013, Volume 110, Issue 30, pp. E2802 - E2811
Serine/arginine (SR) proteins, one of the major families of alternative-splicing regulators in Eukarya, have two types of RNA-recognition motifs (RRMs): a... 
Protein-RNA complex | Splicing factor | NMR | SITE SELECTION | APOPTOSIS | MULTIDISCIPLINARY SCIENCES | FACTOR SF2/ASF | NMR STRUCTURE DETERMINATION | FACTORS ASF/SF2 | protein-RNA complex | MESSENGER-RNA | EXON DEFINITION | GENE-EXPRESSION | HNRNP A1 | BINDING | splicing factor | Amino Acid Sequence | RNA Splicing