Associated Papers
Saul Wilson Syndrome: A Case Report With New Features in Saudi Arabia.
Bin Owaimer SA et al.
Clinical Case Reports, 2026
COG Complex in Golgi Trafficking and Glycosylation.
Sumya FT et al.
Sub-cellular Biochemistry, 2026
The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas.
Tinker RJ et al.
American Journal of Ophthalmology, 2025
Zebrafish models for congenital disorders of glycosylation (CDG): a systematic review.
Gandoy-Fieiras N et al.
Orphanet Journal of Rare Diseases, 2025
Deep learning-based assessment of missense variants in the COG4 gene presented with bilateral congenital cataract.
Xiao B et al.
Bmj Open Ophthalmology, 2025
Systematic Review: Drug Repositioning for Congenital Disorders of Glycosylation (CDG).
Brasil S et al.
International Journal of Molecular Sciences, 2022
Severe Cranio-Cervical Stenosis in a Child with Saul-Wilson Syndrome: A Case Report.
Koruga N et al.
Children (basel, Switzerland), 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
COG4 mutation in Saul-Wilson syndrome selectively affects secretion of proteins involved in chondrogenesis in chondrocyte-like cells.
Xia ZJ et al.
Frontiers in Cell and Developmental Biology, 2022
Saul-Wilson Syndrome Missense Allele Does Not Show Obvious Golgi Defects in a C. elegans Model.
Zafra I et al.
Micropublication Biology, 2021
A Dominant Heterozygous Mutation in COG4 Causes Saul-Wilson Syndrome, a Primordial Dwarfism, and Disrupts Zebrafish Development via Wnt Signaling.
Xia ZJ et al.
Frontiers in Cell and Developmental Biology, 2021
Development and Initial Characterization of Cellular Models for COG Complex-Related CDG-II Diseases.
Sumya FT et al.
Frontiers in Genetics, 2021
Golgi inCOGnito: From vesicle tethering to human disease.
D'Souza Z et al.
Biochimica Et Biophysica Acta. General Subjects, 2020
Growth in individuals with Saul-Wilson syndrome.
Ferreira CR et al.
American Journal of Medical Genetics. Part A, 2020
Sugary Logistics Gone Wrong: Membrane Trafficking and Congenital Disorders of Glycosylation.
Linders PTA et al.
International Journal of Molecular Sciences, 2020
Defining the clinical phenotype of Saul-Wilson syndrome.
Ferreira CR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Maintaining order: COG complex controls Golgi trafficking, processing, and sorting.
Blackburn JB et al.
Febs Letters, 2019
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
Ferreira CR et al.
American Journal of Human Genetics, 2018