Results 101 to 110 of about 395,522 (295)
Two‐way inhibition of PAX5 transcriptional activity by PAX5::CBFA2T3
FEBS Open Bio, EarlyView.PAX5::CBFA2T3 (PAX5‐C) is a fusion protein of the B‐cell transcription factor, PAX5, and is found in B‐cell ALL. We propose a putative model of two‐way inhibition of PAX5 transcriptional activity by PAX5‐C. There are two ways of repression by PAX5‐C: DNA‐binding‐dependent way and HDAC‐dependent way, with either being sufficient for the repression. HDAC
Reina Ueno +12 more
wiley +1 more source
EXON RESINS: each one engineered for Specific Problems and Specific Uses [PDF]
, 1955 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
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
Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero +15 more
wiley +1 more source
Nucleotide sequence of the human c-myc locus: provocative open reading frame within the first exon. [PDF]
, 1984 Claude Gazin +6 more
openalex +1 more source
Influence of Dystrophin Isoform Deficiency on Motor Development in Duchenne Muscular Dystrophy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective In Duchenne muscular dystrophy (DMD), lack of the shorter dystrophin isoforms Dp140 and Dp71 is associated with increased central nervous system (CNS) involvement. We aimed to investigate how CNS involvement affects motor development in young DMD boys.
Mary Chesshyre +152 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
BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach +11 more
wiley +1 more source