Publications:

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Association of Mutations Identified in Xanthinuria with the Function and Inhibition Mechanism of Xanthine Oxidoreductase.

Biomedicines

Sekine, Mai M; Okamoto, Ken K; Ichida, Kimiyoshi K

Publication Date: 2021-11-20

Variant appearance in text: XDH: Pro1150Arg

PubMed Link: 34829959

Variant Present in the following documents:

• Main text
• biomedicines-09-01723.pdf

View BVdb publication page

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Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Translational And Clinical Pharmacology

Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J

Publication Date: 2021-09

Variant appearance in text: XDH: 3449C>G; P1150R; rs1042036

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

View BVdb publication page

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A case of xanthinuria type I with a novel mutation in xanthine dehydrogenase.

Cen Case Reports

Iguchi, Akira A; Sato, Takaaki T; Yamazaki, Mihoko M; Tasaki, Kazuyuki K; Suzuki, Yasushi Y; Iino, Noriaki N; Hasegawa, Hiroshi H; Ichida, Kimiyoshi K; Narita, Ichiei I

Publication Date: 2016-11

Variant appearance in text: XDH: 3449C>G; Pro1150Arg

PubMed Link: 28508967

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs1042036

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: XDH: P1150R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers

Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N

Publication Date: 2015

Variant appearance in text: rs1042036

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

View BVdb publication page

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The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports

Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK

Publication Date: 2014

Variant appearance in text: rs1042036

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

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Genome bioinformatic analysis of nonsynonymous SNPs.

Bmc Bioinformatics

Burke, David F DF; Worth, Catherine L CL; Priego, Eva-Maria EM; Cheng, Tammy T; Smink, Luc J LJ; Todd, John A JA; Blundell, Tom L TL

Publication Date: 2007-08-20

Variant appearance in text: XDH: P1150R

PubMed Link: 17708757

Variant Present in the following documents:

• Main text
• 1471-2105-8-301.pdf

View BVdb publication page

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