Varaico: Literature-Extracted Genetic Variants

Gene:ABCG8
Variant:p.T400K
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ABCG8

NM_022437.3:p.T400K

Associated Papers

Genetic Variants Related to Increased CKD Progression-A Systematic Review.

Mira FS et al.

Biology, 2025

Blood Phytosterol Concentration and Genetic Variant Associations in a Sample Population.

Garrido-Sanchez L et al.

Nutrients, 2024

Association of ABCG5 and ABCG8 Transporters with Sitosterolemia.

Bydlowski SP et al.

Advances in Experimental Medicine and Biology, 2024

Somatic mutations reveal hyperactive Notch signaling and racial disparities in prurigo nodularis.

Rajeh A et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37808834 (PubMed )
Supplement: media-2.xlsx › pnSomatic_supplement_tableS2

Pharmacogenomics of response to statin treatment and susceptibility to statin-induced adverse drug reactions in Asians: a scoping review.

Yow HY et al.

Asian Biomedicine : Research, Reviews and News, 2023

Differential Effects of ABCG5/G8 Gene Region Variants on Lipid Profile, Blood Pressure Status, and Gallstone Disease History in Taiwan.

Teng MS et al.

Genes, 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

36098472 (PubMed )
Supplement: HEP4-6-3120-s001.xlsx › ST6

Spectrum of Rare and Common Genetic Variants in Arrhythmogenic Cardiomyopathy Patients.

Lippi M et al.

Biomolecules, 2022

36008935 (PubMed )
Supplement: biomolecules-12-01043-s001.zip › biomolecules-1806599-supplementary-proof_done-update.pdf

Genetic factors associated with alterations in liver function test results in adult hospitalized patients treated with parenteral nutrition: A substudy of a clinical trial.

Llop-Talaveron J et al.

Nutrition (burbank, Los Angeles County, Calif.), 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

36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1

The association of cytochrome 7A1 and ATP-binding cassette G8 genotypes with type 2 diabetes among Jordanian patients.

Abed E et al.

Drug Metabolism and Personalized Therapy, 2021

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s006.xlsx › Sheet1

Genetic variability in the absorption of dietary sterols affects the risk of coronary artery disease.

Helgadottir A et al.

European Heart Journal, 2020

Association of Common Single Nucleotide Polymorphisms of Candidate Genes with Gallstone Disease: A Meta-Analysis.

Chauhan T et al.

Indian Journal of Clinical Biochemistry : Ijcb, 2020

Recent Advances in the Critical Role of the Sterol Efflux Transporters ABCG5/G8 in Health and Disease.

Wang HH et al.

Advances in Experimental Medicine and Biology, 2020

Endocrine and metabolic disorders in patients with Gaucher disease type 1: a review.

Kałużna M et al.

Orphanet Journal of Rare Diseases, 2019

Genes Potentially Associated with Familial Hypercholesterolemia.

Mikhailova S et al.

Biomolecules, 2019

Targeted Next-Generation Sequencing Identifies Novel Sequence Variations of Genes Associated with Nonobstructive Azoospermia in the Han Population of Northeast China.

Liu X et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2019

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Famiglietti ML et al.

Database : the Journal of Biological Databases and Curation, 2019

30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common

Distribution of the ATP-binding cassette transporter ABCG8 IVS1-2A>G genotype and clinical characteristics of gallbladder patients in Northeastern Mexico: A pilot study.

Frigerio P et al.

Biomedical Reports, 2018

Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine.

Liu R et al.

Scientific Reports, 2017

28835676 (PubMed )
Supplement: 41598_2017_7012_MOESM1_ESM.doc

ATP binding cassette and cholecystokinin A receptor genetic variations in gallstone susceptibility.

Milanizadeh S et al.

Gastroenterology and Hepatology From Bed to Bench, 2017

Cholelithiasis in Patients with Gaucher Disease type 1: Risk Factors and the Role of ABCG5/ABCG8 Gene Variants.

Zimmermann A et al.

Journal of Gastrointestinal and Liver Diseases : Jgld, 2016

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

27512948 (PubMed )
Supplement: PATH-240-315-s015.xlsx › Table_S2

Genetic variation in the cholesterol transporter NPC1L1, ischaemic vascular disease, and gallstone disease.

Lauridsen BK et al.

European Heart Journal, 2015

ABCG8 polymorphisms and renal disease in type 2 diabetic patients.

Nicolas A et al.

Metabolism: Clinical and Experimental, 2015

ABCG5/8 variants are associated with susceptibility to coronary heart disease.

Wu G et al.

Molecular Medicine Reports, 2014

The ABCG5/8 cholesterol transporter and myocardial infarction versus gallstone disease.

Stender S et al.

Journal of the American College of Cardiology, 2014

Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia.

Wang Z et al.

American Journal of Hematology, 2014

Association of three common single nucleotide polymorphisms of ATP binding cassette G8 gene with gallstone disease: a meta-analysis.

Jiang ZY et al.

Plos One, 2014

Lipid-lowing pharmacogenomics in Chinese patients.

Hu M et al.

Expert Review of Cardiovascular Therapy, 2013

Single nucleotide polymorphism rs3732860 in the 3'-untranslated region of CYP8B1 gene is associated with gallstone disease in Han Chinese.

Qin J et al.

Journal of Gastroenterology and Hepatology, 2013

Genetics of biliary lithiasis from an ethnic perspective.

Krawczyk M et al.

Clinics and Research in Hepatology and Gastroenterology, 2013

CYP7A1 polymorphism influences the LDL cholesterol-lowering response to atorvastatin.

Jiang XY et al.

Journal of Clinical Pharmacy and Therapeutics, 2012

Pharmacogenetics and personalized medicine.

Li-Wan-Po A

Journal of Clinical Pharmacy and Therapeutics, 2012

Macrothrombocytopenia/stomatocytosis specially associated with phytosterolemia.

Wang G et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2012

Association of ATP binding cassette transporter G8 rs4148217 SNP and serum lipid levels in Mulao and Han nationalities.

Li Q et al.

Lipids in Health and Disease, 2012

Phytosterol and cholesterol precursor levels indicate increased cholesterol excretion and biosynthesis in gallstone disease.

Krawczyk M et al.

Hepatology (baltimore, Md.), 2012

Interactions between CYP7A1 A-204C and ABCG8 C1199A polymorphisms on lipid lowering with atorvastatin.

Wei KK et al.

Journal of Clinical Pharmacy and Therapeutics, 2011

Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.

Wang LL et al.

Basic & Clinical Pharmacology & Toxicology, 2011

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

ABCG8 D19H polymorphism: a basis for the genetic prediction of cholesterol gallstone disease.

Yoon JH et al.

Journal of Gastroenterology and Hepatology, 2010

Role of ABCG8 D19H (rs11887534) variant in gallstone susceptibility in northern India.

Srivastava A et al.

Journal of Gastroenterology and Hepatology, 2010

ABCG5/G8 polymorphisms and markers of cholesterol metabolism: systematic review and meta-analysis.

Jakulj L et al.

Journal of Lipid Research, 2010

Frequencies of four ATP-binding cassette transporter G8 polymorphisms in patients with ischemic vascular diseases.

Szilvási A et al.

Genetic Testing and Molecular Biomarkers, 2010

Genetic regulation of serum phytosterol levels and risk of coronary artery disease.

Teupser D et al.

Circulation. Cardiovascular Genetics, 2010

Association of selected ABC gene family single nucleotide polymorphisms with postprandial lipoproteins: results from the population-based Hortega study.

Abellán R et al.

Atherosclerosis, 2010

Genetic variations at ABCG5/G8 genes modulate plasma lipids concentrations in patients with familial hypercholesterolemia.

Garcia-Rios A et al.

Atherosclerosis, 2010

Hepatic cholesterol transporter ABCG8 polymorphisms in gallstone disease in an Indian population.

Siddapuram SP et al.

Journal of Gastroenterology and Hepatology, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."