Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A5
Variant:p.L69L
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SLC22A5

NM_003060.4:p.L69L

Associated Papers

The Human OCTN Sub-Family: Gene and Protein Structure, Expression, and Regulation.

Galluccio M et al.

International Journal of Molecular Sciences, 2024

The Role of Organic Cation Transporters in the Pharmacokinetics, Pharmacodynamics and Drug-Drug Interactions of Tyrosine Kinase Inhibitors.

Xiu F et al.

International Journal of Molecular Sciences, 2023

Genetic Studies of Inflammatory Bowel Disease-Focusing on Asian Patients.

Park SC et al.

Cells, 2019

Association study between OCTN1 functional haplotypes and Crohn's disease in a Korean population.

Jung ES et al.

The Korean Journal of Physiology & Pharmacology : Official Journal of the Korean Physiological Society and the Korean Society of Pharmacology, 2017

Identification of OCTN2 variants and their association with phenotypes of Crohn's disease in a Korean population.

Park HJ et al.

Scientific Reports, 2016

Enzymes involved in L-carnitine biosynthesis are expressed by small intestinal enterocytes in mice: implications for gut health.

Shekhawat PS et al.

Journal of Crohn's & Colitis, 2013

Contribution of higher risk genes and European admixture to Crohn's disease in African Americans.

Wang MH et al.

Inflammatory Bowel Diseases, 2012

Single-nucleotide polymorphisms in inflammatory bowel disease.

Neuman MG et al.

Translational Research : the Journal of Laboratory and Clinical Medicine, 2012

Association of the OCTN1/1672T variant with increased risk for colorectal cancer in young individuals and ulcerative colitis patients.

Martini M et al.

Inflammatory Bowel Diseases, 2012

Expression and functional analysis of intestinal organic cation/L-carnitine transporter (OCTN) in Crohn's disease.

Girardin M et al.

Journal of Crohn's & Colitis, 2012

Carnitine deficiency in OCTN2-/- newborn mice leads to a severe gut and immune phenotype with widespread atrophy, apoptosis and a pro-inflammatory response.

Sonne S et al.

Plos One, 2012

PTGER4 expression-modulating polymorphisms in the 5p13.1 region predispose to Crohn's disease and affect NF-κB and XBP1 binding sites.

Glas J et al.

Plos One, 2012

Identification of DLG5 and SLC22A5 gene polymorphisms in Malaysian patients with Crohn's disease.

Chua KH et al.

Journal of Digestive Diseases, 2011

Two independent genetic factors responsible for the associations of the IBD5 locus with Crohn's disease in the Czech population.

Hradsky O et al.

Inflammatory Bowel Diseases, 2011

Selective regulation of cardiac organic cation transporter novel type 2 (OCTN2) in dilated cardiomyopathy.

Grube M et al.

The American Journal of Pathology, 2011

OCTN1 variant L503F is associated with familial and sporadic inflammatory bowel disease.

Lin Z et al.

Journal of Crohn's & Colitis, 2010

Pharmacogenomic discovery using cell-based models.

Welsh M et al.

Pharmacological Reviews, 2009

Epistasis between Toll-like receptor-9 polymorphisms and variants in NOD2 and IL23R modulates susceptibility to Crohn's disease.

Török HP et al.

The American Journal of Gastroenterology, 2009

Association of genetic profiles to Crohn's disease by linear combinations of single nucleotide polymorphisms.

D'Addabbo A et al.

Artificial Intelligence in Medicine, 2009

Polymorphisms in the IBD5 locus are associated with Crohn disease in pediatric Ashkenazi Jewish patients.

Tomer G et al.

Journal of Pediatric Gastroenterology and Nutrition, 2009

Functional genetic variation in the basal promoter of the organic cation/carnitine transporters OCTN1 (SLC22A4) and OCTN2 (SLC22A5).

Tahara H et al.

The Journal of Pharmacology and Experimental Therapeutics, 2009

Increased ergothioneine tissue concentrations in carriers of the Crohn's disease risk-associated 503F variant of the organic cation transporter OCTN1.

Taubert D et al.

Gut, 2009

Contributions of IBD5, IL23R, ATG16L1, and NOD2 to Crohn's disease risk in a population-based case-control study: evidence of gene-gene interactions.

Okazaki T et al.

Inflammatory Bowel Diseases, 2008

Detailed assessment of NOD2/CARD15 exonic variation in inflammatory bowel disease in Scotland: implications for disease pathogenesis.

Russell RK et al.

Genes and Immunity, 2008

Lack of evidence for association of primary sclerosing cholangitis and primary biliary cirrhosis with risk alleles for Crohn's disease in Polish patients.

Gaj P et al.

Bmc Medical Genetics, 2008

OCTN and CARD15 gene polymorphism in Chinese patients with inflammatory bowel disease.

Li M et al.

World Journal of Gastroenterology, 2008

Inflammatory response gene polymorphisms and their relationship with colorectal cancer risk.

Suchy J et al.

Bmc Cancer, 2008

IL4 in the 5q31 context: association studies of type 1 diabetes and rheumatoid arthritis in the Spanish population.

Nuñez C et al.

Immunogenetics, 2008

Barrett's esophagus associates with a variant of IL23R gene.

Gaj P et al.

Acta Biochimica Polonica, 2008

Genetics of inflammatory bowel disease: clues to pathogenesis.

Zhang H et al.

British Medical Bulletin, 2008

Cell-based Models for Discovery of Pharmacogenomic Markers of Anticancer Agent Toxicity.

Zhang W et al.

Trends in Cancer Research, 2008

Spontaneous development of intestinal and colonic atrophy and inflammation in the carnitine-deficient jvs (OCTN2(-/-)) mice.

Shekhawat PS et al.

Molecular Genetics and Metabolism, 2007

Novel genetic markers in inflammatory bowel disease.

Rodriguez-Bores L et al.

World Journal of Gastroenterology, 2007

rs1004819 is the main disease-associated IL23R variant in German Crohn's disease patients: combined analysis of IL23R, CARD15, and OCTN1/2 variants.

Glas J et al.

Plos One, 2007

Genes, diet and inflammatory bowel disease.

Ferguson LR et al.

Mutation Research, 2007

Plasma carnitine ester profiles in Crohn's disease patients characterized for SLC22A4 C1672T and SLC22A5 G-207C genotypes.

Bene J et al.

The British Journal of Nutrition, 2007

Risk factors for perianal Crohn's disease: the role of genotype, phenotype, and ethnicity.

Karban A et al.

The American Journal of Gastroenterology, 2007

Genetics of the innate immune response in inflammatory bowel disease.

Van Limbergen J et al.

Inflammatory Bowel Diseases, 2007

Refined genomic localization and ethnic differences observed for the IBD5 association with Crohn's disease.

Silverberg MS et al.

European Journal of Human Genetics : Ejhg, 2007

Role of CARD15, DLG5 and OCTN genes polymorphisms in children with inflammatory bowel diseases.

Cucchiara S et al.

World Journal of Gastroenterology, 2007

Genetic polymorphisms associated with inflammatory bowel disease do not confer risk for primary sclerosing cholangitis.

Karlsen TH et al.

The American Journal of Gastroenterology, 2007

Prevalence of SLC22A4 1672T and SLC22A5 -207C combination defined TC haplotype in Hungarian ulcerative colitis patients.

Magyari L et al.

Pathology Oncology Research : Por, 2007

Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5).

Urban TJ et al.

Molecular Pharmacology, 2006

Prevalence of SLC22A4, SLC22A5 and CARD15 gene mutations in Hungarian pediatric patients with Crohn's disease.

Bene J et al.

World Journal of Gastroenterology, 2006

Analysis of the influence of OCTN1/2 variants within the IBD5 locus on disease susceptibility and growth indices in early onset inflammatory bowel disease.

Russell RK et al.

Gut, 2006

Direct or indirect association in a complex disease: the role of SLC22A4 and SLC22A5 functional variants in Crohn disease.

Fisher SA et al.

Human Mutation, 2006

Sequence variation, linkage disequilibrium and association with Crohn's disease on chromosome 5q31.

Onnie C et al.

Genes and Immunity, 2006

Evidence for the association of the SLC22A4 and SLC22A5 genes with type 1 diabetes: a case control study.

Santiago JL et al.

Bmc Medical Genetics, 2006

Contribution of OCTN variants within the IBD5 locus to pediatric onset Crohn's disease.

Babusukumar U et al.

The American Journal of Gastroenterology, 2006

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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."