ProteoSeeker: A Feature-Rich Metagenomic Analysis Tool for Accessible and Comprehensive Metagenomic Exploration. [PDF]
Filis G+6 more
europepmc +1 more source
Identifying prognostic targets in metastatic prostate cancer beyond AR
Genome‐wide functional screens combined with a large gene expression database and clinical outcomes can identify new therapeutic vulnerabilities in prostate cancer. Eight potentially druggable targets demonstrated strong dependency in cell lines, were associated with worse prognosis clinically, and showed evidence of protein expression in prostate ...
Emily Feng+13 more
wiley +1 more source
Current Performance of MALDI-TOF Mass Spectrometry Databases for the Identification of Dermatophyte Species. [PDF]
Rodriguez-Temporal D+26 more
europepmc +1 more source
Understanding and Overcoming Immunotherapy Resistance in Skin Cancer: Mechanisms and Strategies
This narrative review explores the mechanisms driving immunotherapy resistance in skin cancer, including tumor microenvironment factors, genetic mutations, and immune evasion strategies. It highlights potential strategies to overcome resistance, offering insights for improving therapeutic outcomes and guiding future research in personalized ...
Shreya Singh Beniwal+8 more
wiley +1 more source
Expanding kinetoplastid genome annotation through protein structure comparison. [PDF]
Trinidad-Barnech JM+3 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
iSeqSearch: incremental protein search for iBlast/iMMSeqs2/iDiamond. [PDF]
Yoo H+5 more
europepmc +1 more source
UDP‐glucose dehydrogenase variants cause dystroglycanopathy
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
ProTaxoVis-protein taxonomic visualisation of presence. [PDF]
Hsieh YC, Bockwoldt M, Heiland I.
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