Associated Papers
A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia.
Okada T et al.
Journal of Atherosclerosis and Thrombosis, 2026
Two Variants of the ANK1 Gene Associated with Hereditary Spherocytosis.
Bogusławska DM et al.
Biomedicines, 2025
Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.
Zhao A et al.
Genes & Diseases, 2025
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
El-Gazzar A et al.
Embo Molecular Medicine, 2023
Population-based meta-analysis and gene-set enrichment identifies FXR/RXR pathway as common to fatty liver disease and serum lipids.
Handelman SK et al.
Hepatology Communications, 2022
Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.
Valentine H et al.
Cancer Research Communications, 2022
Expanding the phenotypic spectrum of non-alcoholic fatty liver disease and hypertriglyceridemia.
Meroni M et al.
Frontiers in Nutrition, 2022
Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.
Liu YX et al.
Frontiers in Cardiovascular Medicine, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Sebate B et al.
Plos One, 2021
Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.
Fontana D et al.
Hemasphere, 2020
Genes Potentially Associated with Familial Hypercholesterolemia.
Mikhailova S et al.
Biomolecules, 2019
Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.
Lonjou C et al.
Bmc Cancer, 2017
Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.
Maguire SL et al.
The Journal of Pathology, 2016
Clinical and molecular study of a pediatric patient with sodium taurocholate cotransporting polypeptide deficiency.
Deng M et al.
Experimental and Therapeutic Medicine, 2016
Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.
Samorodnitsky E et al.
Human Mutation, 2015
Genetic variation in the cholesterol transporter NPC1L1, ischaemic vascular disease, and gallstone disease.
Lauridsen BK et al.
European Heart Journal, 2015
A novel mutation of ABCG5 gene in a Turkish boy with phytosterolemia presenting with macrotrombocytopenia and stomatocytosis.
Kaya Z et al.
Pediatric Blood & Cancer, 2014
Variation and evolution of the ABC transporter genes ABCB1, ABCC1, ABCG2, ABCG5 and ABCG8: implication for pharmacogenetics and disease.
Silverton L et al.
Drug Metabolism and Drug Interactions, 2011
Genetic regulation of serum phytosterol levels and risk of coronary artery disease.
Teupser D et al.
Circulation. Cardiovascular Genetics, 2010
Significant association of ABCG5 604Q and ABCG8 D19H polymorphisms with gallstone disease.
Kuo KK et al.
The British Journal of Surgery, 2008