Results 141 to 150 of about 645,043 (338)
Expand+Functional selection and systematic analysis of intronic splicing elements identify active sequence motifs and associated splicing factors [PDF]
, 2010 Despite the critical role of pre-mRNA splicing in generating proteomic diversity and regulating gene expression, the sequence composition and function of intronic splicing regulatory elements (ISREs) have not been well elucidated.
Berglund, J. Andrew +4 more
core +4 more sources
Familial MTC with RET exon 8 Gly533Cys mutation: origin and prevalence of second malignancy
Endocrine Connections, 2017 Introduction: High prevalence of RET p.Gly533Cys (c.1597G > T) has been found in familial MTC in Greece (exon 8 fMTC). We studied their origin and compared clinical characteristics with non-exon 8 fMTC. Methods: 102 fMTC (FMTC and MEN2A) patients (31.4%
Katerina Saltiki +7 more
doaj +1 more source
The influence of 5-HT(2C) and MDR1 genetic polymorphisms on antipsychotic-induced weight gain in female schizophrenic patients [PDF]
, 2008 We investigated the relationships between functional genetic variants of the 5-HT(2C) receptor and multidrug-resistant protein (MDR1), coding for P-glycoprotein, and second generation antipsychotic (SDA)-induced weight gain among 108 female schizophrenic
Bilušić, Hrvoje +5 more
core +1 more source
UDP‐glucose dehydrogenase variants cause dystroglycanopathy
Annals of Clinical and Translational Neurology, EarlyView.Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs +8 more
wiley +1 more source
Development of algorithms and software for classification of nucleotide sequences
Informatika, 2019 Coding and non-coding nucleotide sequences of the human reference genome have been investigated. Seven models of vectorization of nucleotide sequences based on mono-, bi-, trigram nucleotide frequencies, parameters of the category-position-frequency ...
V. R. Zakirava +4 more
doaj
HOW TO USE EXON RESINS PLUS Firestone TECHNICAL SERVICE ...for a shortcut to a better [PDF]
, 1953 openalex +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra +17 more
wiley +1 more source
Cell Reports, 2012 During evolution segments of homeothermic genomes underwent a GC content increase. Our analyses reveal that two exon-intron architectures have evolved from an ancestral state of low GC content exons flanked by short introns with a lower GC content.
Maayan Amit +11 more
doaj +1 more source
Enhancement of SMN2 Exon 7 Inclusion by Antisense Oligonucleotides Targeting the Exon
PLoS Biology, 2007 Several strategies have been pursued to increase the extent of exon 7 inclusion during splicing of SMN2 (survival of motor neuron 2) transcripts, for eventual therapeutic use in spinal muscular atrophy (SMA), a genetic neuromuscular disease. Antisense oligonucleotides (ASOs) that target an exon or its flanking splice sites usually promote exon skipping.
Adrian R. Krainer +4 more
openaire +5 more sources