Results 41 to 50 of about 838,049 (387)

Investigating synthetic oligonucleotide targeting of miR31 in Duchenne muscular dystrophy [PDF]

, 2016
Exon-skipping via synthetic antisense oligonucleotides represents one of the most promising potential therapies for Duchenne muscular dystrophy (DMD), yet this approach is highly sequence-specific and thus each oligonucleotide is of benefit to only a ...
Hildyard, J C W, Wells, D J
core   +1 more source

Synthetic polypeptides using a biologic as a reference medicinal product – the European landscape of regulatory approvals

Frontiers in Medicine
Recent advances in synthetic drug manufacturing have introduced a new dynamic to the European regulatory system, with chemically synthesized polypeptide products using biological originator products as their reference medicine.
Kevin Klein, Jens Heisterberg, Pieter Stolk   +2 more
doaj   +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

Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report [PDF]

, 2018
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in any organ systems. Mutations in the TSC1 or TSC2 gene lead to the dysfunction of hamartin or tuberin proteins, which cause tuberous sclerosis ...
Bottillo, I, Han, Y, Lang, Y, Liu, X, Shao, L., Wang, J, Wang, Q, Zhang, R   +7 more
core   +2 more sources

Crossing the Exon [PDF]

Molecular Cell, 2010
Pathways of intron/exon specification that drive spliceosome assembly remain unclear. In this issue of Molecular Cell, Schneider et al. (2010) extensively characterize complexes formed on exons, demonstrating unexpected components and providing insights into the switch from cross-exon to cross-intron interactions.
Moldón, Alberto, Query, Charles
openaire   +2 more sources

Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region [PDF]

, 2010
Mutations in ABCC6 cause pseudoxanthoma elasticum (PXE), a heritable disease that affects elastic fibers. Thus far, >200 mutations have been characterized by various PCR-based techniques (primarily direct sequencing), identifying up to 90% of PXE-causing
Chassaing, N, Costrop, Laura, Coucke, Paul, De Paepe, Anne, Guerra, D, Le Saux, Olivier, Martin, L, Pasquali-Ronchetti, I, Van Laer, Lut, Vanakker, Olivier   +9 more
core   +2 more sources

PD-L1 expression, tumor mutational burden, and response to immunotherapy in patients with MET exon 14 altered lung cancers

Annals of Oncology, 2018
Background MET exon 14 alterations are actionable oncogenic drivers. Durable responses to MET inhibitors are observed in patients with advanced MET exon 14-altered lung cancers in prospective trials.
J. Sabari, G. Leonardi, C. Shu, R. Umeton, J. Montecalvo, A. Ni, R. Chen, Jordan A. Dienstag, C. Mrad, I. Bergagnini, W. Lai, M. Offin, K. Arbour, A. Plodkowski, D. Halpenny, P. Paik, B. Li, Gregory Riely, M. Kris, C. Rudin, L. Sholl, M. Nishino, M. Hellmann, N. Rekhtman, M. Awad, A. Drilon   +25 more
semanticscholar   +1 more source

Kit receptor tyrosine kinase dysregulations in feline splenic mast cell tumours [PDF]

, 2017
This study investigated Ki t receptor dysregulations (cytoplasmic immunohistochemical expression and/or c-KIT mutations) in cats a\ufb00ected with splenic mast cell tumours. Twenty-two cats were included.
Amagai, Arock, Carpenter, Columbo, Dank, Frost, Garner, Giantin, Hadzijusufovic, Hahn, Henry, Isotani, Isotani, Lanternier, Letard, Liska, Litster, London, London, Mallett, Marconato, Meininger, Rodriguez-Cariño, Sabattini, Sabattini, Sabattini, Spangler, Takanosu, Takeuchi, Webster, Webster, Webster, Zemke   +32 more
core   +1 more source

Position of Premature Termination Codons Determines Susceptibility of hERG Mutations to Nonsense-Mediated mRNA Decay in Long QT Syndrome

, 2014
The degradation of human ether-a-go-go-related gene (hERG, KCNH2) transcripts containing premature termination codon (PTC)mutations by nonsense-mediatedmRNA decay (NMD) is an importantmechanismof long QT syndrome type 2 (LQT2).
Gong, Qiuming, Stump, Matthew R., Zhou, Zhengfeng   +2 more
core   +1 more source

Expression of the plasma prekallikrein gene: utilization of multiple transcription start sites and alternative promoter regions [PDF]

, 2005
The plasma prekallikrein gene is expressed in many different human tissues at distinctly different levels and therefore tissue-specific control of the gene transcription is likely.
Akita, Bhoola, Colman, Davie, DiScipio, Hauert, Ichinose, Motta, Motta, Neth, Schapira, Smale, Suzuki   +12 more
core   +1 more source