Sort   by:  
 Page size 
ProteomicsProteomic analysis of the secretome of chondrocyte-like cells in Saul-Wilson syndrome
Saul-Wilson syndrome (SWS) is a rare skeletal dysplasia often presents with features such as a distinct facial phenotype, cataracts, short stature, clubfoot deformities, and microcephaly. We have previously identified that the causative mutation in SWS is a heterozygous, dominant variant (p.G516R) i...
ORGANISM(S): Homo sapiens (Human) 
2023-03-11 | PXD036151 | Pride
Human Saul-wilson syndrome Secretome Chondrocyte-like cells 
UnknownDefining the clinical phenotype of Saul-Wilson syndrome.
Not available
S-EPMC7205587 | biostudies-literature
UnknownSevere Cranio-Cervical Stenosis in a Child with Saul-Wilson Syndrome: A Case Report.
Not available
S-EPMC9031859 | biostudies-literature
UnknownGrowth in individuals with Saul-Wilson syndrome.
Not available
S-EPMC9016779 | biostudies-literature
UnknownSaul-Wilson Syndrome Missense Allele Does Not Show Obvious Golgi Defects in a C. elegans Model.
Not available
S-EPMC7933980 | biostudies-literature
UnknownA Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
Not available
S-EPMC6174323 | biostudies-literature
UnknownCOG4 mutation in Saul-Wilson syndrome selectively affects secretion of proteins involved in chondrogenesis in chondrocyte-like cells.
Not available
S-EPMC9649697 | biostudies-literature
UnknownA Dominant Heterozygous Mutation in COG4 Causes Saul-Wilson Syndrome, a Primordial Dwarfism, and Disrupts Zebrafish Development via Wnt Signaling.
Not available
S-EPMC8476873 | biostudies-literature
ProteomicsDevelopment and initial characterization of cellular models for COG complexrelated CDG-II diseases
Conserved Oligomeric Golgi (COG) is an octameric protein complex that orchestrates intra-Golgi trafficking of glycosylation enzymes. Over a hundred individuals with 31 different COG mutations have been identified until now. The cellular phenotypes and clinical presentations of COG-CDGs are heterogen...
ORGANISM(S): Homo sapiens (Human) 
2022-02-17 | PXD027202 | Pride
Glycosylation Glycan processing Mass-spectrometry Cog complex Crispr Congenital disorder of glycosylation Golgi apparatus Vesicle tethering 
UnknownDeep learning-based assessment of missense variants in the <i>COG4</i> gene presented with bilateral congenital cataract.
Not available
S-EPMC11751923 | biostudies-literature
Sort   by:  
 Page size