Erin C Boone
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Explore the profile of Erin C Boone including associated specialties, affiliations and a list of published articles.
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28
Citations
287
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Recent Articles
1.
Ailabouni A, Singh D, Thakur A, Paine M, Boone E, Gaedigk A, et al.
bioRxiv
. 2024 Nov;
PMID: 39605472
The widely prescribed oral anti-diabetic drug metformin is eliminated unchanged in the urine primarily through active tubular secretion. This process is mediated by organic cation transporter 2 (OCT2), an uptake...
2.
Wang W, Lin L, Boone E, Stevens J, Gaedigk A
Front Pharmacol
. 2024 Aug;
15:1429286.
PMID: 39206265
Background: testing is increasingly used to guide drug therapy and thus, reliable methods are needed to test this complex and polymorphic gene locus. A particular challenge arises from the detection...
3.
Zubiaur P, Rodriguez-Antona C, Boone E, Daly A, Tsermpini E, Khasawneh L, et al.
Clin Pharmacol Ther
. 2024 Aug;
116(4):963-975.
PMID: 39135485
The Pharmacogene Variation Consortium (PharmVar) serves as a global repository providing star (*) allele nomenclature for the polymorphic human CYP4F2 gene. CYP4F2 genetic variation impacts the metabolism of vitamin K,...
4.
Gaedigk A, Turner A, Moyer A, Zubiaur P, Boone E, Wang W, et al.
J Mol Diagn
. 2024 Jul;
26(10):864-875.
PMID: 39032822
The DPYD gene encodes dihydropyrimidine dehydrogenase (DPD), which is involved in the catalysis of uracil and thymine, as well as 5-fluorouracil (5-FU), which is used to treat solid tumors. Patients...
5.
Wagner J, Abdel-Rahman S, Raghuveer G, Gaedigk A, Boone E, Gaedigk R, et al.
Genes (Basel)
. 2024 Jan;
15(1).
PMID: 38254988
This clinical study examined the influence of c.521T>C (rs4149056) on plasma atorvastatin concentrations in pediatric hypercholesterolemia. The participants (8-21 years), including heterozygous (c.521T/C, n = 13), homozygous (c.521C/C, n =...
6.
Turner A, Haidar C, Yang W, Boone E, Offer S, Empey P, et al.
Clin Transl Sci
. 2023 Dec;
17(1):e13699.
PMID: 38129972
The DPYD gene encodes dihydropyrimidine dehydrogenase, the rate-limiting enzyme for the metabolism of fluoropyrimidines 5-fluorouracil and capecitabine. Genetic variants in DPYD have been associated with altered enzyme activity, therefore accurate...
7.
Zubiaur P, Soria-Chacartegui P, Boone E, Prasad B, Dinh J, Wang W, et al.
Clin Pharmacol Ther
. 2023 Aug;
114(5):1033-1042.
PMID: 37528442
A novel haplotype composed of two non-coding variants, CYP2C18 NM_000772.3:c.*31T (rs2860840) and NM_000772.2:c.819+2182G (rs11188059), referred to as "CYP2C:TG," was recently associated with ultrarapid metabolism of various CYP2C19 substrates. As the...
8.
Gaedigk A, Boone E, Turner A, van Schaik R, Chernova D, Wang W, et al.
J Mol Diagn
. 2023 Jun;
25(9):655-664.
PMID: 37354993
Pharmacogenetic testing for CYP3A4 is increasingly provided by clinical and research laboratories; however, only a limited number of quality control and reference materials are currently available for many of the...
9.
Sy V, Boone E, Xiao H, Vierling M, Schmitz S, Ung Q, et al.
G3 (Bethesda)
. 2023 Apr;
13(8).
PMID: 37052947
During the sexual phase of Neurospora crassa, unpaired genes are subject to a silencing mechanism known as meiotic silencing by unpaired DNA (MSUD). MSUD targets the transcripts of an unpaired...
10.
Pratt V, Wang W, Boone E, Broeckel U, Cody N, Edelmann L, et al.
J Mol Diagn
. 2022 Aug;
24(10):1079-1088.
PMID: 35931342
Pharmacogenetic testing is increasingly provided by clinical and research laboratories; however, only a limited number of quality control and reference materials are currently available for many of the TPMT and...