Associated Papers
Protein-truncating variants of the cholesteryl ester transfer protein gene and risk for coronary artery disease among patients with heterozygous familial hypercholesterolemia.
Tada H et al.
Atherosclerosis, 2025
Cholesteryl Ester Transfer Protein Deficiency and Hyperalphalipoproteinemia.
Inazu A
Journal of Atherosclerosis and Thrombosis, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Neglected Mendelian causes of stroke in adult Chinese patients who had an ischaemic stroke or transient ischaemic attack.
Li W et al.
Stroke and Vascular Neurology, 2024
Variants in the CETP gene affect levels of HDL cholesterol by reducing the amount, and not the specific lipid transfer activity, of secreted CETP.
Ølnes ÅS et al.
Plos One, 2023
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli ET et al.
Nature Communications, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer.
Torrezan GT et al.
Frontiers in Genetics, 2018
Protein-Truncating Variants at the Cholesteryl Ester Transfer Protein Gene and Risk for Coronary Heart Disease.
Nomura A et al.
Circulation Research, 2017
Low-frequency coding variants in CETP and CFB are associated with susceptibility of exudative age-related macular degeneration in the Japanese population.
Momozawa Y et al.
Human Molecular Genetics, 2016
Human genetics of HDL: Insight into particle metabolism and function.
Brunham LR et al.
Progress in Lipid Research, 2015
A novel type of familial hypercholesterolemia: double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene.
Tada H et al.
Atherosclerosis, 2011
Identification of a novel missense mutation in the sterol 27-hydroxylase gene in two Japanese patients with cerebrotendinous xanthomatosis.
Nozue T et al.
Internal Medicine (tokyo, Japan), 2010
A novel homozygous mutation in CETP gene as a cause of CETP deficiency in a Caucasian kindred.
Calabresi L et al.
Atherosclerosis, 2009
Novel mutations of CETP gene in Italian subjects with hyperalphalipoproteinemia.
Cefalù AB et al.
Atherosclerosis, 2009
Apolipoprotein B gene mutations and fatty liver in Japanese hypobetalipoproteinemia.
Katsuda S et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2009
Effects of hepatic lipase gene promoter nucleotide variations on serum HDL cholesterol concentration in the general Japanese population.
Inazu A et al.
Journal of Human Genetics, 2001