Results 101 to 110 of about 747,509 (280)
Palaeoproteomic Deconvolution of Physical and Genetic Collagen Mixtures
Advanced Science, EarlyView.ClassiCOL_v2 uses a novel “peptide patching” framework that treats any collagen sample as a patchwork of peptide sequences derived from phylogenetically related species. This allows the algorithm to simultaneously resolve two previously intractable problems: multi‐species samples and/or database deficiencies.
Ian Engels +12 more
wiley +1 more source
Regulation of RNA splicing by nonsense mutations
, 2007 Translation termination as a result of premature nonsense codon-incorporation in a RNA transcript can lead to the production of aberrant proteins with gain-of-function or dominant negative properties that could have deletrious effects on the cell. T-cell
Imam, J. Saadi
core +1 more source
AI‐Driven Cancer Multi‐Omics: A Review From the Data Pipeline Perspective
Advanced Intelligent Discovery, EarlyView.The exponential growth of cancer multi‐omics data brings opportunities and challenges for precision oncology. This review systematically examines AI's role in addressing these challenges, covering generative models, integration architectures, Explainable AI for clinical trust, clinical applications, and key directions for clinical translation.
Shilong Liu, Shunxiang Li, Kun Qian
wiley +1 more source
Molecular Therapy: Nucleic AcidsDuchenne muscular dystrophy (DMD) is the most prevalent herediatry disease in men, characterized by dystrophin deficiency, progressive muscle wasting, cardiac insufficiency, and premature mortality, with no effective therapeutic options.
Ming Jin +16 more
doaj +1 more source
Disease Models & Mechanisms, 2016 Neurofibromatosis type 1 (NF1) is a common genetic disorder characterized by the occurrence of nerve sheath tumors and considerable clinical heterogeneity.
Kairong Li +11 more
doaj +1 more source
, 2005 Nonsense-mediated RNA decay (NMD) is an evolutionary conserved system of RNA surveillance that detects and degrades RNA transcripts containing nonsense mutations.
Claudio Alonso (4462075)
core
Nonsense CD247 mutations show dominant-negative features in TCR expression and function
Background The invariant TCRζ/CD247 homodimer is crucial for TCR/CD3 expression and signaling through its three immunoreceptor tyrosine‐based activation motifs (ITAMs).
Balastegui Martín, Héctor +9 more
core +1 more source
A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco +6 more
wiley +1 more source
Hepatology, EarlyView., 2022 A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan +19 more
wiley +1 more source
Identification of APC nonsense mutations responsive to aminoglycoside treatment.
, 2013 Readthrough efficiencies for 11 nonsense mutations in the APC gene were assessed in NIH3T3 cells with and without gentamicin (800 µg/ml) treatment for 24 h.
Jean-Pierre Rousset (26086) +2 more
core +1 more source