Results 191 to 200 of about 820,083 (349)

Real‐Time Eco–AI, Electrophoresis‐Correlative Data‐Dependent Acquisition with AI‐Based Data Processing Broadens Access to Single‐Cell Mass Spectrometry Proteomics

open access: yesAngewandte Chemie, EarlyView.
An affordable single‐cell proteomics workflow combines capillary electrophoresis, real‐time ion sorting, and AI‐aided spectral deconvolution to profile early Xenopus embryonic cells. Despite using a legacy Orbitrap, this strategy matches or exceeds the sensitivity of modern instruments, uncovering proteome dynamics at sub‐nanogram scale.
Bowen Shen, Fei Zhou, Peter Nemes
wiley   +2 more sources

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero   +17 more
wiley   +1 more source

Accelerating Characterization of Therapeutic Antibodies: A Comparative Assessment of icIEF-UV/MS and the Traditional Fractionation Workflow. [PDF]

open access: yesJ Am Soc Mass Spectrom
Shah A   +8 more
europepmc   +1 more source

Establishment of a humanized SCA2 mouse model carrying a CAA disruption preventing CAG repeat expansion in pathogenic genes

open access: yesAnimal Models and Experimental Medicine, EarlyView.
In this study, we established a mouse model in which CAG repeats do not undergo microsatellite instability (MSI) across generations. A humanized ATXN2 cDNA with four CAA interruptions within 73 CAG expansions was inserted into the Rosa26 locus of C57BL/6J mice. At the same time, a 23 CAG control mouse model was also generated.
Yao Zhang   +9 more
wiley   +1 more source

Development, validation, and preliminary phenotypic characterization of a Col6a3 knockout mouse model targeting exon 3

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Deleting Col6a3 exon 3 by CRISPR in mice results in centralized nuclei consistent with a myopathy phenotype mimicking collagen VI‐associated human disease Abstract Background Most mutations in the COL6A3 gene lead to collagen VI‐related myopathies. This is due to a reduced expression or mislocalization of the COL6A3 protein.
Michel ElChoueiry   +12 more
wiley   +1 more source

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