Associated Papers
The curious case of a heterozygous loss-of-function PSEN1 variant associated with early-onset Alzheimer's disease.
Sanjuan-Ruiz I et al.
Molecular Neurodegeneration Advances, 2025
In utero tumor development and identification of CTNNB1 mutation in a newborn case of ossifying renal tumor of infancy.
Kasai S et al.
Pediatric Blood & Cancer, 2024
Hypercholesterolemia in the Malaysian Cohort Participants: Genetic and Non-Genetic Risk Factors.
Abdul Murad NA et al.
Genes, 2023
The Emerging Roles of Intracellular PCSK9 and Their Implications in Endoplasmic Reticulum Stress and Metabolic Diseases.
Lebeau PF et al.
Metabolites, 2022
Protective lipid-lowering variants in healthy older individuals without coronary heart disease.
Lacaze P et al.
Open Heart, 2021
Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.
Nagasawa S et al.
Communications Biology, 2021
Genetic Diagnosis of Familial Hypercholesterolemia in Asia.
Huang CC et al.
Frontiers in Genetics, 2020
Dysregulation of neuron differentiation in an autistic savant with exceptional memory.
Song J et al.
Molecular Brain, 2019
Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients.
Hori M et al.
Atherosclerosis, 2019
Loss-of-Function PCSK9 Mutations Are Not Associated With Alzheimer Disease.
Paquette M et al.
Journal of Geriatric Psychiatry and Neurology, 2018
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
Complexity of mechanisms among human proprotein convertase subtilisin-kexin type 9 variants.
Dron JS et al.
Current Opinion in Lipidology, 2017
Exome and deep sequencing of clinically aggressive neuroblastoma reveal somatic mutations that affect key pathways involved in cancer progression.
Lasorsa VA et al.
Oncotarget, 2016
PCSK9 polymorphism in a Tunisian cohort: identification of a new allele, L8, and association of allele L10 with reduced coronary heart disease risk.
Slimani A et al.
Molecular and Cellular Probes, 2015
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.
Cooper DN et al.
Human Genetics, 2013
Regional distribution and metabolic effect of PCSK9 insLEU and R46L gene mutations and apoE genotype.
Awan Z et al.
The Canadian Journal of Cardiology, 2013
Genomic characterization of two deletions in the LDLR gene in Tunisian patients with familial hypercholesterolemia.
Jelassi A et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012
Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease).
Georges A et al.
Orphanet Journal of Rare Diseases, 2011
The E32K variant of PCSK9 exacerbates the phenotype of familial hypercholesterolaemia by increasing PCSK9 function and concentration in the circulation.
Noguchi T et al.
Atherosclerosis, 2010
The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene.
Abifadel M et al.
Human Mutation, 2009
A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats.
Chung BD et al.
Human Mutation, 2009
A PCSK9 variant and familial combined hyperlipidaemia.
Abifadel M et al.
Journal of Medical Genetics, 2008
Effect of ezetimibe coadministered with statins in genotype-confirmed heterozygous FH patients.
Pisciotta L et al.
Atherosclerosis, 2007
Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.
Humphries SE et al.
Journal of Medical Genetics, 2006
Shortcomings on genetic testing of Familial hypercholesterolemia (FH) in India: Can we collaborate to establish Indian FH registry?
Reddy LL et al.
Indian Heart Journal, 0