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Mutation Report for: G143E_human-CES1

G143E_human-CES1
Gene_Locus|human-CES1
Mode of mutation|Natural mutant, Site directed mutagenesis
Amino Acid change|G143E
Torpedo number|119
Summary|
Comment|p.G143E Gly143Glu c.428G>A (rs71647871)
Kinetic parameters|none


References:
    Title: The Influence of the CES1 Genotype on the Pharmacokinetics of Enalapril in Patients with Arterial Hypertension
    Ikonnikova A, Rodina T, Dmitriev A, Melnikov E, Kazakov R, Nasedkina T
    Ref: J Pers Med, 12:, 2022 : PubMed

            

    Title: Major implications of single nucleotide polymorphisms in human carboxylesterase 1 on substrate bioavailability
    Yerrakula G, Abraham S, John S, Zeharvi M, George SG, Senthil V, Maiz F, Rahman MH
    Ref: Biotechnol Genet Eng Rev, :1, 2022 : PubMed

            

    Title: The influence of carboxylesterase 1 polymorphism and cannabidiol on the hepatic metabolism of heroin
    Qian Y, Gilliland TK, Markowitz JS
    Ref: Chemico-Biological Interactions, :108914, 2019 : PubMed

            

    Title: The impact of human CES1 genetic variation on enzyme activity assessed by ritalinic acid/methylphenidate ratios
    Stage C, Dalhoff K, Rasmussen HB, Schow Guski L, Thomsen R, Bjerre D, Ferrero-Miliani L, Busk Madsen M, Jurgens G
    Ref: Basic Clin Pharmacol Toxicol, 125:54, 2019 : PubMed

            

    Title: Genetic variation in human carboxylesterase CES1 confers resistance to hepatic steatosis
    Lian J, Bahitham W, Panigrahi R, Nelson R, Li L, Watts R, Thiesen A, Lemieux MJ, Lehner R
    Ref: Biochimica & Biophysica Acta, 1863:688, 2018 : PubMed

            

    Title: Effects of Genetic Variants on Carboxylesterase 1 Gene Expression, and Clopidogrel Pharmacokinetics and Antiplatelet Effects
    Neuvonen M, Tarkiainen EK, Tornio A, Hirvensalo P, Tapaninen T, Paile-Hyvarinen M, Itkonen MK, Holmberg MT, Karja V and Niemi M <4 more author(s)>
    Ref: Basic Clin Pharmacol Toxicol, 122:341, 2018 : PubMed

            

    Title: The impact of CES1 genotypes on the pharmacokinetics of methylphenidate in healthy Danish subjects
    Stage C, Jurgens G, Guski LS, Thomsen R, Bjerre D, Ferrero-Miliani L, Lyauk YK, Rasmussen HB, Dalhoff K
    Ref: British Journal of Clinical Pharmacology, 83:1506, 2017 : PubMed

            

    Title: Population Pharmacokinetics of Methylphenidate in Healthy Adults Emphasizing Novel and Known Effects of Several Carboxylesterase 1 (CES1) Variants
    Lyauk YK, Stage C, Bergmann TK, Ferrero-Milliani L, Bjerre D, Thomsen R, Dalhoff KP, Rasmussen HB, Jurgens G
    Ref: Clin Transl Sci, 9:337, 2016 : PubMed

            

    Title: Investigating the impact of missense mutations in hCES1 by in silico structure-based approaches
    Nzabonimpa GS, Rasmussen HB, Brunak S, Taboureau O
    Ref: Drug Metab Pers Ther, :, 2016 : PubMed

            

    Title: Dabigatran etexilate activation is affected by the CES1 genetic polymorphism G143E (rs71647871) and gender
    Shi J, Wang X, Nguyen JH, Bleske BE, Liang Y, Liu L, Zhu HJ
    Ref: Biochemical Pharmacology, 119:76, 2016 : PubMed

            

    Title: Association of Oseltamivir Activation with Gender and Carboxylesterase 1 Genetic Polymorphisms
    Shi J, Wang X, Eyler RF, Liang Y, Liu L, Mueller BA, Zhu HJ
    Ref: Basic Clin Pharmacol Toxicol, 119:555, 2016 : PubMed

            

    Title: Sacubitril Is Selectively Activated by Carboxylesterase 1 (CES1) in the Liver and the Activation Is Affected by CES1 Genetic Variation
    Shi J, Wang X, Nguyen J, Wu AH, Bleske BE, Zhu HJ
    Ref: Drug Metabolism & Disposition: The Biological Fate of Chemicals, 44:554, 2016 : PubMed

            

    Title: CES1 genetic variation affects the activation of angiotensin-converting enzyme inhibitors
    Wang X, Wang G, Shi J, Aa JY, Comas R, Liang Y, Zhu HJ
    Ref: Pharmacogenomics J, 16:220, 2016 : PubMed

            

    Title: Carboxylesterase 1 c.428G>A single nucleotide variation increases the antiplatelet effects of clopidogrel by reducing its hydrolysis in humans
    Tarkiainen EK, Holmberg MT, Tornio A, Neuvonen M, Neuvonen PJ, Backman JT, Niemi M
    Ref: Clinical Pharmacology & Therapeutics, 97:650, 2015 : PubMed

            

    Title: Effect of carboxylesterase 1 c.428G > A single nucleotide variation on the pharmacokinetics of quinapril and enalapril
    Tarkiainen EK, Tornio A, Holmberg MT, Launiainen T, Neuvonen PJ, Backman JT, Niemi M
    Ref: British Journal of Clinical Pharmacology, 80:1131, 2015 : PubMed

            

    Title: The functional G143E variant of carboxylesterase 1 is associated with increased clopidogrel active metabolite levels and greater clopidogrel response
    Lewis JP, Horenstein RB, Ryan K, O'Connell JR, Gibson Q, Mitchell BD, Tanner K, Chai S, Bliden KP and Shuldiner AR <6 more author(s)>
    Ref: Pharmacogenet Genomics, 23:1, 2013 : PubMed

            

    Title: Carboxylesterase 1 as a determinant of clopidogrel metabolism and activation
    Zhu HJ, Wang X, Gawronski BE, Brinda BJ, Angiolillo DJ, Markowitz JS
    Ref: Journal of Pharmacology & Experimental Therapeutics, 344:665, 2013 : PubMed

            

    Title: Carboxylesterase 1 polymorphism impairs oseltamivir bioactivation in humans
    Tarkiainen EK, Backman JT, Neuvonen M, Neuvonen PJ, Schwab M, Niemi M
    Ref: Clinical Pharmacology & Therapeutics, 92:68, 2012 : PubMed

            

    Title: A simple allele-specific polymerase chain reaction method to detect the Gly143Glu polymorphism in the human carboxylesterase 1 gene: importance of genotyping for pharmacogenetic treatment
    Walter Soria N, Belaus A, Galvan C, Ana Pasquali M, Velez P, Del Carmen Montes C, Beltramo DM
    Ref: Genet Test Mol Biomarkers, 14:749, 2010 : PubMed

            

    Title: Carboxylesterase 1 gene polymorphism and methylphenidate response in ADHD
    Nemoda Z, Angyal N, Tarnok Z, Gadoros J, Sasvari-Szekely M
    Ref: Neuropharmacology, 57:731, 2009 : PubMed

            

    Title: Activation of the antiviral prodrug oseltamivir is impaired by two newly identified carboxylesterase 1 variants
    Zhu HJ, Markowitz JS
    Ref: Drug Metabolism & Disposition: The Biological Fate of Chemicals, 37:264, 2009 : PubMed

            

    Title: Two CES1 gene mutations lead to dysfunctional carboxylesterase 1 activity in man: clinical significance and molecular basis
    Zhu HJ, Patrick KS, Yuan HJ, Wang JS, Donovan JL, DeVane CL, Malcolm R, Johnson JA, Youngblood GL and Markowitz JS <2 more author(s)>
    Ref: American Journal of Human Genetics, 82:1241, 2008 : PubMed

            




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