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_
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Sar1b mutant mice recapitulate gastrointestinal abnormalities associated with chylomicron retention disease.
Auclair N et al.
Journal of Lipid Research, 2021
Inhibition of Sar1b, the Gene Implicated in Chylomicron Retention Disease, Impairs Migration and Morphogenesis of Developing Cortical Neurons.
Li X et al.
Neuroscience, 2020
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4
Update on the molecular biology of dyslipidemias.
Ramasamy I
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
Insights from human congenital disorders of intestinal lipid metabolism.
Levy E
Journal of Lipid Research, 2015
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
Chylomicron retention disease: a long term study of two cohorts.
Peretti N et al.
Molecular Genetics and Metabolism, 2009
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
[CONGENITAL DISORDERS OF LIPID METABOLISM. X. FAMILIAL HYPERCHOLESTEREMIC XANTHOMATOSIS-DETECTION OF HYPERPROTEINEMIA].
SOBRA J et al.
Casopis Lekaru Ceskych, 1963
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