Associated Papers
Germline Pathogenic DROSHA Variants Are Linked to Pineoblastoma and Wilms Tumor Predisposition.
Fiorica PN et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
39992227 (PubMed )
Supplement: ccr-24-2785_supplementary_data_1_suppds1.xlsx › Supplemental_Table_3
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
Gene polymorphism and frequencies of the NPC1L1 gene (rs2072183, rs217434 and rs217428) in Japanese patients with dyslipidemia.
Kashiwabara Y et al.
Journal of Clinical Pharmacy and Therapeutics, 2014
Niemann-Pick C1-Like 1 and cholesterol uptake.
Wang LJ et al.
Biochimica Et Biophysica Acta, 2012
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
Hepatic triglyceride content in individuals with reduced intestinal cholesterol absorption due to variants in Nieman Pick C1-like 1.
Ramirez R et al.
Hepatology (baltimore, Md.), 2011
Molecular characterization of the NPC1L1 variants identified from cholesterol low absorbers.
Wang LJ et al.
The Journal of Biological Chemistry, 2011
In-vitro characterization of the six clustered variants of NPC1L1 observed in cholesterol low absorbers.
Yamanashi Y et al.
Pharmacogenetics and Genomics, 2009
Niemann-Pick C1 Like 1 (NPC1L1) an intestinal sterol transporter.
Davis HR et al.
Biochimica Et Biophysica Acta, 2009
Functional characterization of genetic variants in NPC1L1 supports the sequencing extremes strategy to identify complex trait genes.
Fahmi S et al.
Human Molecular Genetics, 2008
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