Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S11_FC_Founder_variants_
Sar1b mutant mice recapitulate gastrointestinal abnormalities associated with chylomicron retention disease.
Auclair N et al.
Journal of Lipid Research, 2021
Update on the molecular biology of dyslipidemias.
Ramasamy I
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.
Calandra S et al.
Journal of Lipid Research, 2011
Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers.
Peretti N et al.
Orphanet Journal of Rare Diseases, 2010
Anderson or chylomicron retention disease: molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein.
Charcosset M et al.
Molecular Genetics and Metabolism, 2008
The intracellular transport of chylomicrons requires the small GTPase, Sar1b.
Shoulders CC et al.
Current Opinion in Lipidology, 2004
Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders.
Jones B et al.
Nature Genetics, 2003
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