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ProteomicsHomozygous KIAA1033/WASHC4 mutation in siblings with a syndromic phenotype defined by intellectual disability, sensorineural hearing loss, dysmorphisms and muscle fiber vulnerability
The Wiskott-Aldrich Syndrome Protein (WASP) family is known for its participation in cytoskeleton reorganization (Marchand et al., 2001 and Jia et al., 2010). In 2007, the human subtelomeric MGC52000 genes were renamed as Wiskott-Aldrich Syndrome Protein and SCAR Homolog (WASH). Human WASH proteins ...
ORGANISM(S): Homo sapiens (Human) 
2021-10-14 | PXD024222 | Pride
Washc4 Muscle autophagy Vcp Fibroblast proteomics 
UnknownGenetic disruption of WASHC4 drives endo-lysosomal dysfunction and cognitive-movement impairments in mice and humans.
Not available
S-EPMC7984842 | biostudies-literature
UnknownFOLFOX treatment response prediction in metastatic or recurrent colorectal cancer patients via machine learning algorithms.
Not available
S-EPMC7013065 | biostudies-literature
UnknownGenome-Wide Association Study for Somatic Skeletal Traits in Duroc × (Landrace × Yorkshire) Pigs.
Not available
S-EPMC10778498 | biostudies-literature
ProteomicsCryoEM and AI reveal a structure of SARS-CoV-2 Nsp2, a multifunctional protein involved in key host processes
Using structural analysis together with affinity tagged purification mass spectrometry experiments, we identify Nsp2 mutants that are unable to interact with key host proteins and processes.
ORGANISM(S): Homo sapiens (Human) 
2022-01-20 | PXD025817 | Pride
Apms Artificial intelligence Sars-cov-2 Protein-protein interactions Cryoem Nsp2 
UnknownThe clinical and genetic spectrum of paediatric speech and language disorders in 52,143 individuals.
Not available
S-EPMC11071575 | biostudies-literature
ProteomicsBioID2-Synapsin proteome Soderling
To determine the proteome of presynaptic terminals based on a BioID2-synapsin probe.
ORGANISM(S): Mus musculus (Mouse) 
2021-07-15 | PXD019342 | Pride
Bioid synapsin 
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