Results 261 to 270 of about 1,780,952 (333)

Two‐way inhibition of PAX5 transcriptional activity by PAX5::CBFA2T3

open access: yesFEBS 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

Retrospective analysis of 300 microbial cell-free DNA sequencing results in routine blood stream infection diagnostics. [PDF]

open access: yesFront Cell Infect Microbiol
Neidhöfer C   +8 more
europepmc   +1 more source

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

open access: yesAnnals 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

The Safety and Suitability of DNA Sequencing of Tissue Biopsies Performed on Patients Referred to a Phase I Unit. [PDF]

open access: yesCancers (Basel)
Esposito A   +20 more
europepmc   +1 more source

Factors for Rituximab Refractoriness in AQP4‐IgG+ NMOSD: A Cohort Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuromyelitis optica spectrum disorder (NMOSD) is a severe autoimmune condition of the central nervous system (CNS), often associated with aquaporin‐4 antibodies (AQP4‐IgG). Rituximab, a CD20+ B‐cell depleting monoclonal antibody, is widely used as first‐line therapy.
Mariano Marrodan   +8 more
wiley   +1 more source

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