Two‐way inhibition of PAX5 transcriptional activity by PAX5::CBFA2T3
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
Mutations in the TSC2 gene: analysis of the complete coding sequence using the protein truncation test (PTT) [PDF]
I van Bakel
openalex +1 more source
Transcriptome Screening of Long Noncoding RNAs and Their Target Protein-Coding Genes Unmasks a Dynamic Portrait of Seed Coat Coloration Associated with Anthocyanins in Tibetan Hulless Barley. [PDF]
Zheng K+10 more
europepmc +1 more source
Mitochondrial DNA disorders in neuromuscular diseases in diverse populations
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao+34 more
wiley +1 more source
Unequal synonymous substitution rates within and between two protein- coding mitochondrial genes [PDF]
Joseph P. Bielawski, John R. Gold
openalex +1 more source
Analysis of long noncoding gene expression and its interactions with protein-coding genes in vascular endothelial cells in keloids. [PDF]
Luo Y+9 more
europepmc +1 more source
The Green Valley of <i>Drosophila melanogaster</i> Constitutive Heterochromatin: Protein-Coding Genes Involved in Cell Division Control. [PDF]
Messina G+4 more
europepmc +1 more source
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
Highly contiguous genomes of human clinical isolates of Giardia duodenalis reveal assemblage- and sub-assemblage-specific presence-absence variation in protein-coding genes. [PDF]
Klotz C+11 more
europepmc +1 more source
ABSTRACT Objective Despite the availability of effective therapies for Multiple Sclerosis (MS), the unpredictable nature of disease progression and the variability in individual treatment outcomes call for reliable biomarkers. This pilot study aims to investigate the potential of plasma circulating microRNAs (miRNAs) as predictive biomarkers for ...
Fortunata Carbone+19 more
wiley +1 more source