Results 41 to 50 of about 4,111,769 (301)
ABSTRACT Pediatric intramedullary low‐grade gliomas (PIMLGGs) are rare neoplasms that present unique clinical and management challenges. Although surgery remains the primary tool for tissue diagnosis and decompression, complete gross‐total resection is frequently unfeasible due to the infiltrative nature of these lesions.
Olga M. Sergeenko +5 more
wiley +1 more source
Structural variant calling: the long and the short of it [PDF]
AbstractRecent research into structural variants (SVs) has established their importance to medicine and molecular biology, elucidating their role in various diseases, regulation of gene expression, ethnic diversity, and large-scale chromosome evolution—giving rise to the differences within populations and among species. Nevertheless, characterizing SVs
Medhat Mahmoud +5 more
openaire +5 more sources
Detecting large deletions at base pair level by combining split read and paired read data
Background Genomic structural variants (SV) play a significant role in the onset and progression of cancer. Genomic deletions can create oncogenic fusion genes or cause the loss of tumor suppressing gene function which can lead to tumorigenesis by ...
Matthew Hayes, Jeremy S. Pearson
doaj +1 more source
ABSTRACT Background Outcomes in relapsed or refractory pediatric and AYA bone sarcomas remain poor, and the impact of early referral to specialized sarcoma centers on survival is unclear. Early centralization of care may improve local and systemic treatment quality, but evidence in this population is limited.
Justyna Antoniuk‐Majchrzak +9 more
wiley +1 more source
Structural Characterization of the Histone Variant macroH2A [PDF]
macroH2A is an H2A variant with a highly unusual structural organization. It has a C-terminal domain connected to the N-terminal histone domain by a linker. Crystallographic and biochemical studies show that changes in the L1 loop in the histone fold region of macroH2A impact the structure and potentially the function of nucleosomes.
Srinivas, Chakravarthy +6 more
openaire +2 more sources
ABSTRACT Background Establishing a comprehensive apheresis medicine program in a resource‐constrained setting presents significant structural, financial, and logistical challenges. Despite the growing clinical importance of apheresis services globally, published experience from sub‐Saharan Africa remains sparse.
Folasade Adelekan‐Popoola +4 more
wiley +1 more source
Capsella is a model genus for studying polyploid speciation and mating system transitions. Here, we report a subgenome‐resolved telomere‐to‐telomere reference genome of Capsella bursa‐pastoris, the only polyploid species in the genus, generated by ...
Xin Liu +4 more
doaj +1 more source
Shiny-SoSV: A web-based performance calculator for somatic structural variant detection.
Somatic structural variants are an important contributor to cancer development and evolution. Accurate detection of these complex variants from whole genome sequencing data is influenced by a multitude of parameters. However, there are currently no tools
Tingting Gong +2 more
doaj +1 more source
ABSTRACT Background Chronic micro‐inflammation in patients with end‐stage renal disease (ESRD) is a significant driver of cardiovascular complications and diminished quality of life. While standard hemodialysis (SHD) effectively manages small‐molecule clearance, its ability to remove medium‐to‐large uremic toxins—the primary catalysts of systemic ...
Hongwei Zuo +5 more
wiley +1 more source
Somatic Cell Structural Variant Mutagenesis and Neurologic Disease [PDF]
Detection of organismal mosaic states for variant alleles faces technical and analytical challenges, as does the association of such variant alleles with susceptibility to neurologic disease.
Lupski, James R
core +1 more source

