Publications:

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: rs4073582

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

View BVdb publication page

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Multiple Membrane Transporters and Some Immune Regulatory Genes are Major Genetic Factors to Gout.

The Open Rheumatology Journal

Zhu, Weifeng W; Deng, Yan Y; Zhou, Xiaodong X

Publication Date: 2018

Variant appearance in text: rs4073582

PubMed Link: 30123371

Variant Present in the following documents:

• Main text
• TORJ-12-94.pdf

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Replication of Gout/Urate Concentrations GWAS Susceptibility Loci Associated with Gout in a Han Chinese Population.

Scientific Reports

Li, Zhiqiang Z; Zhou, Zhaowei Z; Hou, Xu X; Lu, Dajiang D; Yuan, Xuan X; Lu, Jie J; Wang, Can C; Han, Lin L; Cui, Lingling L; Liu, Zhen Z; Chen, Jianhua J; Cheng, Xiaoyu X; Zhang, Keke K; Ji, Jue J; Jia, Zhaotong Z; Ma, Lidan L; Xin, Ying Y; Liu, Tian T; Yu, Qing Q; Ren, Wei W; Wang, Xuefeng X; Li, Xinde X; Mi, Qing-Sheng QS; Shi, Yongyong Y; Li, Changgui C

Publication Date: 2017-06-22

Variant appearance in text: rs4073582

PubMed Link: 28642574

Variant Present in the following documents:

• Main text
• 41598_2017_Article_4127.pdf

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GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes.

Annals Of The Rheumatic Diseases

Nakayama, Akiyoshi A; Nakaoka, Hirofumi H; Yamamoto, Ken K; Sakiyama, Masayuki M; Shaukat, Amara A; Toyoda, Yu Y; Okada, Yukinori Y; Kamatani, Yoichiro Y; Nakamura, Takahiro T; Takada, Tappei T; Inoue, Katsuhisa K; Yasujima, Tomoya T; Yuasa, Hiroaki H; Shirahama, Yuko Y; Nakashima, Hiroshi H; Shimizu, Seiko S; Higashino, Toshihide T; Kawamura, Yusuke Y; Ogata, Hiraku H; Kawaguchi, Makoto M; Ohkawa, Yasuyuki Y; Danjoh, Inaho I; Tokumasu, Atsumi A; Ooyama, Keiko K; Ito, Toshimitsu T; Kondo, Takaaki T; Wakai, Kenji K; Stiburkova, Blanka B; Pavelka, Karel K; Stamp, Lisa K LK; Dalbeth, Nicola N; , ; Sakurai, Yutaka Y; Suzuki, Hiroshi H; Hosoyamada, Makoto M; Fujimori, Shin S; Yokoo, Takashi T; Hosoya, Tatsuo T; Inoue, Ituro I; Takahashi, Atsushi A; Kubo, Michiaki M; Ooyama, Hiroshi H; Shimizu, Toru T; Ichida, Kimiyoshi K; Shinomiya, Nariyoshi N; Merriman, Tony R TR; Matsuo, Hirotaka H; ,

Publication Date: 2017-05

Variant appearance in text: rs4073582

PubMed Link: 27899376

Variant Present in the following documents:

• Main text
• annrheumdis-2016-209632.pdf
• annrheumdis-2016-209632supp001.pdf

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Identification of rs671, a common variant of ALDH2, as a gout susceptibility locus.

Scientific Reports

Sakiyama, Masayuki M; Matsuo, Hirotaka H; Nakaoka, Hirofumi H; Yamamoto, Ken K; Nakayama, Akiyoshi A; Nakamura, Takahiro T; Kawai, Sayo S; Okada, Rieko R; Ooyama, Hiroshi H; Shimizu, Toru T; Shinomiya, Nariyoshi N

Publication Date: 2016-05-16

Variant appearance in text: rs4073582

PubMed Link: 27181629

Variant Present in the following documents:

• Main text
• srep25360.pdf

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Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes.

Annals Of The Rheumatic Diseases

Matsuo, Hirotaka H; Yamamoto, Ken K; Nakaoka, Hirofumi H; Nakayama, Akiyoshi A; Sakiyama, Masayuki M; Chiba, Toshinori T; Takahashi, Atsushi A; Nakamura, Takahiro T; Nakashima, Hiroshi H; Takada, Yuzo Y; Danjoh, Inaho I; Shimizu, Seiko S; Abe, Junko J; Kawamura, Yusuke Y; Terashige, Sho S; Ogata, Hiraku H; Tatsukawa, Seishiro S; Yin, Guang G; Okada, Rieko R; Morita, Emi E; Naito, Mariko M; Tokumasu, Atsumi A; Onoue, Hiroyuki H; Iwaya, Keiichi K; Ito, Toshimitsu T; Takada, Tappei T; Inoue, Katsuhisa K; Kato, Yukio Y; Nakamura, Yukio Y; Sakurai, Yutaka Y; Suzuki, Hiroshi H; Kanai, Yoshikatsu Y; Hosoya, Tatsuo T; Hamajima, Nobuyuki N; Inoue, Ituro I; Kubo, Michiaki M; Ichida, Kimiyoshi K; Ooyama, Hiroshi H; Shimizu, Toru T; Shinomiya, Nariyoshi N

Publication Date: 2016-04

Variant appearance in text: rs4073582

PubMed Link: 25646370

Variant Present in the following documents:

• Main text
• annrheumdis-2014-206191.pdf
• annrheumdis-2014-206191-s1.pdf

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